#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_ORegAnno_bin	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
CFAP43	80217	broad.mit.edu	37	10	105951965	105951965	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr10:105951965C>T	ENST00000278064.2	-	12	1656	c.1331G>A	c.(1330-1332)gGa>gAa	p.G444E	WDR96_ENST00000357060.3_Missense_Mutation_p.G513E|WDR96_ENST00000428666.1_Missense_Mutation_p.G514E														p.G513E(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCTGTGAATCCAATAATCTG	0.294																																					p.G513E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1538A	10						.						128.0	123.0	125.0					10																	105951965		2203	4300	6503	105941955	SO:0001583	missense	80217	exon12																														ENST00000278064.2:c.1331G>A	10.37:g.105951965C>T	ENSP00000278064:p.Gly444Glu		105941955	NM_025145		Missense_Mutation	SNP	ENST00000278064.2	37		.	.	.	.	.	.	.	.	.	.	C	23.6	4.440037	0.83993	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064	T;T;T	0.35789	1.6;1.59;1.29	5.91	5.91	0.95273	WD40 repeat-like-containing domain (1);	0.000000	0.41194	D	0.000923	T	0.62624	0.2443	M	0.76002	2.32	0.46749	D	0.999186	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64141	-0.6477	10	0.87932	D	0	.	17.7923	0.88558	0.0:1.0:0.0:0.0	.	514;513	B4DHB6;Q8NDM7	.;WDR96_HUMAN	E	513;514;444	ENSP00000349568:G513E;ENSP00000400289:G514E;ENSP00000278064:G444E	ENSP00000278064:G444E	G	-	2	0	WDR96	105941955	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.348000	0.59379	2.793000	0.96121	0.655000	0.94253	GGA		0.294	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1		
CUBN	8029	broad.mit.edu	37	10	17126295	17126295	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr10:17126295C>T	ENST00000377833.4	-	17	2341	c.2276G>A	c.(2275-2277)aGt>aAt	p.S759N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	759	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.S759N(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)	AGAACTGTCACTCTGGCATTG	0.443																																					p.S759N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2276A	10						.						163.0	152.0	156.0					10																	17126295		2203	4300	6503	17166301	SO:0001583	missense	8029	exon17			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.2276G>A	10.37:g.17126295C>T	ENSP00000367064:p.Ser759Asn		17166301	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	3.509	-0.100208	0.06967	.	.	ENSG00000107611	ENST00000377833	T	0.18338	2.22	5.69	-0.989	0.10242	CUB (5);	0.913105	0.09201	N	0.834672	T	0.09949	0.0244	L	0.33245	0.995	0.09310	N	1	B	0.19331	0.035	B	0.19391	0.025	T	0.41645	-0.9497	10	0.16896	T	0.51	.	2.9043	0.05715	0.1089:0.3621:0.322:0.2071	.	759	O60494	CUBN_HUMAN	N	759	ENSP00000367064:S759N	ENSP00000367064:S759N	S	-	2	0	CUBN	17166301	0.000000	0.05858	0.010000	0.14722	0.051000	0.14879	-0.684000	0.05173	0.010000	0.14839	0.655000	0.94253	AGT		0.443	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
SYT15	83849	broad.mit.edu	37	10	46963880	46963881	+	Missense_Mutation	DNP	AG	AG	GT			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	AG	AG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr10:46963880_46963881AG>GT	ENST00000374321.4	-	7	1148_1149	c.1082_1083CT>AC	c.(1081-1083)gCT>gAC	p.A361D	SYT15_ENST00000374323.4_Missense_Mutation_p.A414D|SYT15_ENST00000503753.1_Missense_Mutation_p.A361D|SYT15_ENST00000374325.3_Missense_Mutation_p.A361D|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000449358.2_5'Flank	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	361	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GGCTGAGGCTAGCGGTATCCAG	0.579																																					.	Ovarian(57;1152 1428 19651 37745)											.	.	0			c.1082_1083AC	10						.																																			46383887	SO:0001583	missense	83849	exon7			AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.1082_1083delinsGT	10.37:g.46963880_46963881delinsGT	ENSP00000363441:p.Ala361Asp		46383886	NM_181519	A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	DNP	ENST00000374321.4	37	CCDS44376.1																																																																																				0.579	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912	
C10orf71	118461	broad.mit.edu	37	10	50532077	50532077	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr10:50532077C>T	ENST00000374144.3	+	3	1775	c.1487C>T	c.(1486-1488)gCc>gTc	p.A496V	C10orf71_ENST00000323868.4_Missense_Mutation_p.A496V			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	496										endometrium(1)	1						AAGTCCAAAGCCCCTAGCCTG	0.522																																					p.A496V												.	.	0			c.C1487T	10						.						37.0	41.0	40.0					10																	50532077		2070	4202	6272	50202083	SO:0001583	missense	118461	exon3			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1487C>T	10.37:g.50532077C>T	ENSP00000363259:p.Ala496Val		50202083	NM_001135196	A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115692	0.77323	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.28069	1.63;2.79	5.57	4.56	0.56223	.	0.000000	0.38778	N	0.001563	T	0.41419	0.1158	M	0.64997	1.995	0.46725	D	0.999174	D	0.61080	0.989	P	0.52758	0.708	T	0.12426	-1.0548	10	0.34782	T	0.22	.	12.9997	0.58667	0.0:0.8929:0.0:0.1071	.	496	Q711Q0-3	.	V	496	ENSP00000318713:A496V;ENSP00000363259:A496V	ENSP00000318713:A496V	A	+	2	0	C10orf71	50202083	0.993000	0.37304	1.000000	0.80357	0.995000	0.86356	2.949000	0.49074	2.629000	0.89072	0.650000	0.86243	GCC		0.522	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459	
OGDHL	55753	broad.mit.edu	37	10	50946058	50946059	+	Missense_Mutation	DNP	AG	AG	CC			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	AG	AG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr10:50946058_50946059AG>CC	ENST00000374103.4	-	19	2536_2537	c.2451_2452CT>GG	c.(2449-2454)aaCTgc>aaGGgc	p.817_818NC>KG	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.608_609NC>KG|OGDHL_ENST00000419399.1_Missense_Mutation_p.760_761NC>KG	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	817					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.N817>?(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGTGTGGAGCAGTTGACCACGA	0.619																																					.												.	.	1	Complex(1)	large_intestine(1)	c.2280_2281GG	10						.																																			50616065	SO:0001583	missense	55753	exon18			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2451_2452delinsCC	10.37:g.50946058_50946059delinsCC	ENSP00000363216:p.N817_C818delinsKG		50616064	NM_001143996	A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	DNP	ENST00000374103.4	37	CCDS7234.1																																																																																				0.619	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245	
JMJD1C	221037	broad.mit.edu	37	10	64949028	64949028	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr10:64949028A>G	ENST00000399262.2	-	18	6688	c.6470T>C	c.(6469-6471)aTa>aCa	p.I2157T	JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.I1975T|JMJD1C_ENST00000402544.1_Missense_Mutation_p.I1920T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2157					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.I2157T(1)|p.I1920T(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)					AGAATGTGGTATATCACTGTA	0.328																																					p.I1920T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T5759C	10						.						141.0	133.0	136.0					10																	64949028		1819	4075	5894	64619034	SO:0001583	missense	221037	exon15			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.6470T>C	10.37:g.64949028A>G	ENSP00000382204:p.Ile2157Thr		64619034	NM_004241	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.13|13.13	2.145762|2.145762	0.37923|0.37923	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921|ENST00000327520	T;T;T|.	0.70516|.	-0.49;-0.49;-0.49|.	5.91|5.91	4.77|4.77	0.60923|0.60923	.|.	0.099589|.	0.64402|.	D|.	0.000002|.	T|T	0.52191|0.52191	0.1719|0.1719	L|L	0.28694|0.28694	0.88|0.88	0.80722|0.80722	D|D	1|1	P;P;B|.	0.48911|.	0.917;0.917;0.007|.	B;B;B|.	0.41917|.	0.219;0.37;0.008|.	T|T	0.47407|0.47407	-0.9120|-0.9120	10|5	0.06891|.	T|.	0.86|.	-12.7768|-12.7768	12.0118|12.0118	0.53291|0.53291	0.9306:0.0:0.0694:0.0|0.9306:0.0:0.0694:0.0	.|.	1975;2157;1975|.	B7ZLC8;Q15652;A0T124|.	.;JHD2C_HUMAN;.|.	T|H	2157;1920;1975|704	ENSP00000382204:I2157T;ENSP00000384990:I1920T;ENSP00000444682:I1975T|.	ENSP00000382204:I2157T|.	I|Y	-|-	2|1	0|0	JMJD1C|JMJD1C	64619034|64619034	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.915000|6.915000	0.75770|0.75770	2.270000|2.270000	0.75569|0.75569	0.528000|0.528000	0.53228|0.53228	ATA|TAC		0.328	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241	
TET1	80312	broad.mit.edu	37	10	70332119	70332120	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	GC	GC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr10:70332119_70332120GC>CT	ENST00000373644.4	+	2	233_234	c.24_25GC>CT	c.(22-27)agGCct>agCTct	p.8_9RP>SS		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	8					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.R8>?(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GCCATGCAAGGCCTTCCAGATT	0.441																																					.												.	.	1	Complex(1)	large_intestine(1)	c.24_25CT	10						.																																			70002126	SO:0001583	missense	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	Exception_encountered	10.37:g.70332119_70332120delinsCT	ENSP00000362748:p.R8_P9delinsSS		70002125	NM_030625	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	DNP	ENST00000373644.4	37	CCDS7281.1																																																																																				0.441	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625	
SLC29A3	55315	broad.mit.edu	37	10	73122133	73122133	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr10:73122133A>T	ENST00000373189.5	+	6	1248	c.1196A>T	c.(1195-1197)cAg>cTg	p.Q399L	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	399					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)	p.Q399L(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TGTAACTACCAGCCCCGCGTC	0.642																																					p.Q399L	Esophageal Squamous(200;1319 2142 18949 31248 39672)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1196T	10						.						121.0	113.0	116.0					10																	73122133		2203	4300	6503	72792139	SO:0001583	missense	55315	exon6			AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.1196A>T	10.37:g.73122133A>T	ENSP00000362285:p.Gln399Leu		72792139	NM_018344	B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	ENST00000373189.5	37	CCDS7310.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117867	0.77323	.	.	ENSG00000198246	ENST00000373189	T	0.62941	-0.01	5.56	4.43	0.53597	.	0.150804	0.47455	D	0.000221	T	0.78502	0.4293	M	0.85197	2.74	0.47621	D	0.999478	P	0.48350	0.909	D	0.63381	0.914	D	0.84677	0.0715	9	0.66056	D	0.02	-21.5351	11.3435	0.49546	0.929:0.0:0.071:0.0	.	399	Q9BZD2	S29A3_HUMAN	L	399	ENSP00000362285:Q399L	ENSP00000362285:Q399L	Q	+	2	0	SLC29A3	72792139	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	9.334000	0.96470	0.967000	0.38186	0.533000	0.62120	CAG		0.642	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	NM_018344	
PSAP	5660	broad.mit.edu	37	10	73581705	73581705	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr10:73581705C>G	ENST00000394936.3	-	8	984	c.837G>C	c.(835-837)atG>atC	p.M279I	PSAP_ENST00000394934.1_Missense_Mutation_p.M281I			P07602	SAP_HUMAN	prosaposin	279					blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CCAGAGTCTGCATGGGCATCT	0.552																																					p.M282I												.	.	0			c.G846C	10						.						107.0	95.0	99.0					10																	73581705		2203	4300	6503	73251711	SO:0001583	missense	5660	exon9			BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.837G>C	10.37:g.73581705C>G	ENSP00000378394:p.Met279Ile		73251711	NM_001042465	P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483381	0.44147	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940	D;D	0.89552	-2.53;-2.53	5.42	4.46	0.54185	.	0.298364	0.41194	D	0.000933	D	0.83991	0.5374	L	0.59436	1.845	0.35084	D	0.763679	B	0.25563	0.129	B	0.23018	0.043	T	0.81618	-0.0851	10	0.25751	T	0.34	-1.3834	8.2905	0.31954	0.2473:0.5227:0.23:0.0	.	279	P07602	SAP_HUMAN	I	279;279;282;281;285;205	ENSP00000378394:M279I;ENSP00000378392:M281I	ENSP00000350063:M282I	M	-	3	0	PSAP	73251711	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.069000	0.30641	2.691000	0.91804	0.655000	0.94253	ATG		0.552	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778	
HABP2	3026	broad.mit.edu	37	10	115338462	115338462	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr10:115338462C>A	ENST00000351270.3	+	7	741	c.645C>A	c.(643-645)tgC>tgA	p.C215*	HABP2_ENST00000537906.1_3'UTR|HABP2_ENST00000541666.1_Nonsense_Mutation_p.C215*|HABP2_ENST00000542051.1_Nonsense_Mutation_p.C189*	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	215	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)	p.C215*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	AGCATGCGTGCCTTTACTGGA	0.483																																					p.C189X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C567A	10						.						193.0	166.0	175.0					10																	115338462		2203	4300	6503	115328452	SO:0001587	stop_gained	3026	exon7				CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.645C>A	10.37:g.115338462C>A	ENSP00000277903:p.Cys215*		115328452	NM_001177660	A8K467|B7Z8U5|F5H5M6|O00663	Nonsense_Mutation	SNP	ENST00000351270.3	37	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634248	0.47049	.	.	ENSG00000148702	ENST00000542051;ENST00000351270;ENST00000541666	.	.	.	5.36	1.99	0.26369	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.7388	0.34545	0.0:0.7036:0.0:0.2964	.	.	.	.	X	189;215;215	.	ENSP00000277903:C215X	C	+	3	2	HABP2	115328452	0.861000	0.29849	0.998000	0.56505	0.275000	0.26752	-0.073000	0.11468	0.751000	0.32900	0.462000	0.41574	TGC		0.483	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132	
SCUBE2	57758	broad.mit.edu	37	11	9087445	9087445	+	Silent	SNP	C	C	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr11:9087445C>G	ENST00000309263.3	-	7	915	c.843G>C	c.(841-843)ctG>ctC	p.L281L	SCUBE2_ENST00000457346.2_Silent_p.L281L|RP11-467K18.2_ENST00000521394.2_RNA|SCUBE2_ENST00000450649.2_Silent_p.L281L|SCUBE2_ENST00000520467.1_Silent_p.L281L			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	281						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.L281L(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TACCCATGAGCAGCCGCCGTT	0.537																																					p.L281L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G843C	11						.						189.0	135.0	153.0					11																	9087445		2201	4296	6497	9044021	SO:0001819	synonymous_variant	57758	exon7			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.843G>C	11.37:g.9087445C>G			9044021	NM_020974	Q2NKQ8|Q6ZWI1	Silent	SNP	ENST00000309263.3	37		.	.	.	.	.	.	.	.	.	.	C	7.530	0.658397	0.14645	.	.	ENSG00000175356	ENST00000519788;ENST00000531429	.	.	.	5.64	2.73	0.32206	.	.	.	.	.	T	0.60996	0.2312	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59434	-0.7455	4	.	.	.	.	11.5346	0.50631	0.0:0.7606:0.0:0.2394	.	.	.	.	S	5;46	.	.	C	-	2	0	SCUBE2	9044021	0.811000	0.29063	1.000000	0.80357	0.658000	0.38924	0.017000	0.13399	1.384000	0.46424	0.655000	0.94253	TGC		0.537	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974	
DDB2	1643	broad.mit.edu	37	11	47254445	47254445	+	Silent	SNP	A	A	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr11:47254445A>T	ENST00000256996.4	+	4	732	c.537A>T	c.(535-537)ggA>ggT	p.G179G	DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378603.3_Silent_p.G115G|DDB2_ENST00000378601.3_Silent_p.G179G	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	179					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.G179G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						CAATGGAGGGAACAACTAGGC	0.463			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.G179G		yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	damage-specific DNA binding protein 2		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A537T	11						.						170.0	140.0	150.0					11																	47254445		2201	4298	6499	47211021	SO:0001819	synonymous_variant	1643	exon4	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.537A>T	11.37:g.47254445A>T			47211021	NM_000107	B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Silent	SNP	ENST00000256996.4	37	CCDS7927.1																																																																																				0.463	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000107	
GLYATL2	219970	broad.mit.edu	37	11	58602197	58602197	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr11:58602197T>A	ENST00000287275.1	-	6	980	c.590A>T	c.(589-591)cAg>cTg	p.Q197L	GLYATL2_ENST00000533636.1_5'Flank|GLYATL2_ENST00000532258.1_Missense_Mutation_p.Q197L	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	197						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)	p.Q197L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TAGAAAATCCTGGAGGCAGCG	0.463																																					p.Q197L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A590T	11						.						55.0	58.0	57.0					11																	58602197		2145	4264	6409	58358773	SO:0001583	missense	219970	exon6			AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.590A>T	11.37:g.58602197T>A	ENSP00000287275:p.Gln197Leu		58358773	NM_145016	A5LGC7|Q86WC3|Q96AT2	Missense_Mutation	SNP	ENST00000287275.1	37	CCDS41649.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.806629	0.70682	.	.	ENSG00000156689	ENST00000287275;ENST00000532258	T;T	0.15017	2.46;2.46	4.34	0.719	0.18208	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, N-terminal (1);	0.503970	0.17910	U	0.157898	T	0.32376	0.0827	M	0.71206	2.165	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.08680	-1.0710	10	0.32370	T	0.25	.	5.8096	0.18460	0.0:0.3539:0.0:0.6461	.	197	Q8WU03	GLYL2_HUMAN	L	197	ENSP00000287275:Q197L;ENSP00000434277:Q197L	ENSP00000287275:Q197L	Q	-	2	0	GLYATL2	58358773	0.006000	0.16342	0.010000	0.14722	0.678000	0.39670	-0.288000	0.08377	0.119000	0.18210	0.467000	0.42956	CAG		0.463	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016	
MS4A10	341116	broad.mit.edu	37	11	60557878	60557878	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr11:60557878C>T	ENST00000308287.1	+	2	166	c.70C>T	c.(70-72)Cca>Tca	p.P24S		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	24						integral component of membrane (GO:0016021)		p.P24S(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						AGTCCTCAGCCCAGTCCAGCC	0.602																																					p.P24S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C70T	11						.						109.0	101.0	104.0					11																	60557878		2203	4300	6503	60314454	SO:0001583	missense	341116	exon2			AK122633	CCDS7992.1	11q12.2	2008-02-05				ENSG00000172689			13368	protein-coding gene	gene with protein product		608403				11486273, 11401424	Standard	NM_206893		Approved	CD20L7, MS4A9	uc001npz.1	Q96PG2		ENST00000308287.1:c.70C>T	11.37:g.60557878C>T	ENSP00000311862:p.Pro24Ser		60314454	NM_206893	B2RP45|Q96PG3	Missense_Mutation	SNP	ENST00000308287.1	37	CCDS7992.1	.	.	.	.	.	.	.	.	.	.	C	8.177	0.793045	0.16327	.	.	ENSG00000172689	ENST00000308287	T	0.25912	1.77	3.06	1.13	0.20643	.	0.752409	0.10949	N	0.616303	T	0.15219	0.0367	L	0.29908	0.895	0.09310	N	1	B	0.18013	0.025	B	0.12156	0.007	T	0.28744	-1.0034	10	0.28530	T	0.3	-3.6693	3.8199	0.08832	0.2359:0.6331:0.0:0.131	.	24	Q96PG2	M4A10_HUMAN	S	24	ENSP00000311862:P24S	ENSP00000311862:P24S	P	+	1	0	MS4A10	60314454	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	2.173000	0.42472	0.320000	0.23234	-0.480000	0.04831	CCA		0.602	MS4A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395619.1	NM_206893	
PRPF19	27339	broad.mit.edu	37	11	60671268	60671269	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	GC	GC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr11:60671268_60671269GC>CT	ENST00000227524.4	-	2	289_290	c.84_85GC>AG	c.(82-87)cgGCtc>cgAGtc	p.L29V	RP11-881M11.2_ENST00000544421.1_RNA	NM_014502.4	NP_055317.1			pre-mRNA processing factor 19									p.R28>?(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TTCTCGATGAGCCGCCGCTCAT	0.525																																					.												.	.	1	Complex(1)	large_intestine(1)	c.84_85AG	11						.																																			60427845	SO:0001583	missense	27339	exon2			BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.84_85delinsCT	11.37:g.60671268_60671269delinsCT	ENSP00000227524:p.Leu29Val		60427844	NM_014502		Missense_Mutation	DNP	ENST00000227524.4	37	CCDS7995.1																																																																																				0.525	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502	
NPAS4	266743	broad.mit.edu	37	11	66192332	66192332	+	Silent	SNP	C	C	A	rs552263741		TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr11:66192332C>A	ENST00000311034.2	+	7	2147	c.1971C>A	c.(1969-1971)ggC>ggA	p.G657G		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	657					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.G657G(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGGCACTGGCGGACTAGAGC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		17752	0.001		0.0	False		,,,				2504	0.0				p.G657G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1971A	11						.						103.0	107.0	106.0					11																	66192332		2200	4295	6495	65948908	SO:0001819	synonymous_variant	266743	exon7			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1971C>A	11.37:g.66192332C>A			65948908	NM_178864	B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	CCDS8138.1																																																																																				0.582	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864	
FOLH1B	219595	broad.mit.edu	37	11	89405160	89405160	+	RNA	SNP	C	C	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr11:89405160C>G	ENST00000532352.1	+	0	1100							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.T96R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AGCTTTGGAACACTGAAAAAG	0.423																																					p.T96R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C287G	11						.						188.0	165.0	173.0					11																	89405160		2201	4299	6500	89044808			219595	exon5			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89405160C>G			89044808	NM_153696		Missense_Mutation	SNP	ENST00000532352.1	37																																																																																					0.423	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696	
GUCY1A2	2977	broad.mit.edu	37	11	106681134	106681134	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr11:106681134C>T	ENST00000526355.2	-	5	1745	c.1277G>A	c.(1276-1278)tGt>tAt	p.C426Y	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.C447Y|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.C426Y	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	426					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.C426Y(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)	CTTGTCCACACATGGAGAGCC	0.438																																					p.C426Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1277A	11						.						82.0	85.0	84.0					11																	106681134		2201	4298	6499	106186344	SO:0001583	missense	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.1277G>A	11.37:g.106681134C>T	ENSP00000431245:p.Cys426Tyr		106186344	NM_000855	A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025846	0.75390	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.87966	-2.32;-2.32;-2.32	5.64	5.64	0.86602	Haem NO binding associated (1);	0.000000	0.49305	U	0.000145	D	0.88295	0.6398	L	0.38175	1.15	0.49483	D	0.999798	D;D;D	0.62365	0.975;0.991;0.989	P;D;P	0.64506	0.686;0.926;0.883	T	0.82621	-0.0367	10	0.02654	T	1	.	18.6821	0.91549	0.0:1.0:0.0:0.0	.	447;426;426	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	Y	426;426;447	ENSP00000431245:C426Y;ENSP00000282249:C426Y;ENSP00000344874:C447Y	ENSP00000282249:C426Y	C	-	2	0	GUCY1A2	106186344	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.487000	0.81328	2.644000	0.89710	0.650000	0.86243	TGT		0.438	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2		
UTP20	27340	broad.mit.edu	37	12	101727084	101727084	+	Silent	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr12:101727084G>A	ENST00000261637.4	+	28	3597	c.3423G>A	c.(3421-3423)caG>caA	p.Q1141Q		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1141					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.Q1141Q(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						TACAGATACAGCTGAGATTTA	0.338																																					p.Q1141Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3423A	12						.						62.0	66.0	65.0					12																	101727084		2203	4300	6503	100251215	SO:0001819	synonymous_variant	27340	exon28			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.3423G>A	12.37:g.101727084G>A			100251215	NM_014503	Q9H3H4	Silent	SNP	ENST00000261637.4	37	CCDS9081.1																																																																																				0.338	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
SSH1	54434	broad.mit.edu	37	12	109182896	109182896	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr12:109182896G>A	ENST00000326495.5	-	15	2111	c.2018C>T	c.(2017-2019)gCt>gTt	p.A673V	SSH1_ENST00000360239.3_Missense_Mutation_p.A361V	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	673					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A673V(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATGGCGGGAGCATTGGGGTC	0.617																																					p.A673V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2018T	12						.						41.0	40.0	40.0					12																	109182896		2203	4300	6503	107707025	SO:0001583	missense	54434	exon15			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.2018C>T	12.37:g.109182896G>A	ENSP00000315713:p.Ala673Val		107707025	NM_018984	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	G	8.136	0.784175	0.16189	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	D;D	0.87571	-2.27;-2.27	5.19	3.31	0.37934	.	1.762110	0.02615	N	0.102606	D	0.85936	0.5813	L	0.50333	1.59	0.09310	N	1	B;B	0.28713	0.22;0.161	B;B	0.30495	0.058;0.116	T	0.67952	-0.5537	10	0.30854	T	0.27	-3.6766	11.0057	0.47633	0.0712:0.1294:0.7994:0.0	.	673;361	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	V	361;673	ENSP00000353374:A361V;ENSP00000315713:A673V	ENSP00000315713:A673V	A	-	2	0	SSH1	107707025	0.623000	0.27094	0.001000	0.08648	0.133000	0.20885	4.422000	0.59854	0.639000	0.30564	0.650000	0.86243	GCT		0.617	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984	
GIT2	9815	broad.mit.edu	37	12	110427580	110427580	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr12:110427580C>G	ENST00000355312.3	-	3	213	c.214G>C	c.(214-216)Gct>Cct	p.A72P	GIT2_ENST00000360185.4_Missense_Mutation_p.A72P|GIT2_ENST00000320063.9_Missense_Mutation_p.A72P|GIT2_ENST00000356259.4_Missense_Mutation_p.A72P|GIT2_ENST00000553118.1_Missense_Mutation_p.A72P|GIT2_ENST00000547815.1_Missense_Mutation_p.A72P|GIT2_ENST00000343646.5_Missense_Mutation_p.A72P|GIT2_ENST00000457474.2_Missense_Mutation_p.A72P|GIT2_ENST00000551209.1_Missense_Mutation_p.A72P|GIT2_ENST00000354574.4_Missense_Mutation_p.A72P|GIT2_ENST00000361006.5_Missense_Mutation_p.A72P|GIT2_ENST00000338373.5_Missense_Mutation_p.A72P	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	72	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				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.A72P(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						ATAGAGTTAGCACCGTTATTA	0.388																																					p.A72P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G214C	12						.						120.0	114.0	116.0					12																	110427580		2203	4300	6503	108911963	SO:0001583	missense	9815	exon3			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.214G>C	12.37:g.110427580C>G	ENSP00000347464:p.Ala72Pro		108911963	NM_001135214	Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046275	0.93740	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000343646;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209;ENST00000542273;ENST00000547815;ENST00000320063	T;T;T;T;T;T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.87	5.87	0.94306	Ankyrin repeat-containing domain (2);	0.045358	0.85682	D	0.000000	T	0.77498	0.4139	H	0.96720	3.87	0.80722	D	1	P;P;P;P;P;D;D	0.55172	0.701;0.732;0.914;0.914;0.508;0.97;0.963	P;P;P;P;B;P;P	0.56960	0.617;0.71;0.723;0.723;0.384;0.81;0.799	D	0.84491	0.0611	10	0.87932	D	0	.	19.5705	0.95413	0.0:1.0:0.0:0.0	.	72;72;72;72;72;72;72	B4E2E7;Q6FI58;Q14161-10;F8WAK2;Q14161-11;Q14161;Q14161-5	.;.;.;.;.;GIT2_HUMAN;.	P	72;72;72;72;72;72;72;72;72;72;10;72;72	ENSP00000347464:A72P;ENSP00000353312:A72P;ENSP00000346585:A72P;ENSP00000340342:A72P;ENSP00000340938:A72P;ENSP00000348595:A72P;ENSP00000391813:A72P;ENSP00000354282:A72P;ENSP00000447465:A72P;ENSP00000448832:A72P;ENSP00000450348:A72P;ENSP00000323833:A72P	ENSP00000323833:A72P	A	-	1	0	GIT2	108911963	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.728000	0.62000	2.941000	0.99782	0.655000	0.94253	GCT		0.388	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169	
MED13L	23389	broad.mit.edu	37	12	116429047	116429047	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr12:116429047C>A	ENST00000281928.3	-	17	3918	c.3712G>T	c.(3712-3714)Gct>Tct	p.A1238S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1238						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.A1238S(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)		TTCAGTGAAGCAAAAGGTTGT	0.468																																					p.A1238S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3712T	12						.						94.0	98.0	96.0					12																	116429047		2203	4300	6503	114913430	SO:0001583	missense	23389	exon17			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.3712G>T	12.37:g.116429047C>A	ENSP00000281928:p.Ala1238Ser		114913430	NM_015335	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	3.063	-0.192823	0.06259	.	.	ENSG00000123066	ENST00000281928	T	0.73047	-0.71	5.05	5.05	0.67936	.	0.433672	0.27871	N	0.017519	T	0.37183	0.0994	N	0.02539	-0.55	0.35360	D	0.788145	B	0.11235	0.004	B	0.06405	0.002	T	0.47761	-0.9092	10	0.02654	T	1	.	7.6305	0.28236	0.0:0.8631:0.0:0.1369	.	1238	Q71F56	MD13L_HUMAN	S	1238	ENSP00000281928:A1238S	ENSP00000281928:A1238S	A	-	1	0	MED13L	114913430	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.489000	0.35562	2.784000	0.95788	0.585000	0.79938	GCT		0.468	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3		
PARP11	57097	broad.mit.edu	37	12	3931098	3931098	+	Silent	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr12:3931098G>A	ENST00000228820.4	-	6	633	c.489C>T	c.(487-489)cgC>cgT	p.R163R	PARP11_ENST00000447133.3_Silent_p.R82R|PARP11_ENST00000397096.2_Silent_p.R156R|PARP11_ENST00000427057.2_Silent_p.R82R|PARP11_ENST00000476985.1_5'UTR	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	156	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R156R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TAATTCGGTTGCGATCCATCG	0.348																																					p.R163R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C489T	12						.						77.0	84.0	82.0					12																	3931098		2203	4299	6502	3801359	SO:0001819	synonymous_variant	57097	exon6			AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"""Poly (ADP-ribose) polymerases"""	1186	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 6"""	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.489C>T	12.37:g.3931098G>A			3801359	NM_020367	B4DRQ0|Q68DS1|Q8N5Y9	Silent	SNP	ENST00000228820.4	37	CCDS8523.2																																																																																				0.348	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1		
FGF6	2251	broad.mit.edu	37	12	4543401	4543401	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr12:4543401G>T	ENST00000228837.2	-	3	650	c.607C>A	c.(607-609)Cat>Aat	p.H203N		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	203					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|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)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|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 (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)	p.H203N(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			GGAAGGAAATGAGTGACAGTC	0.493																																					p.H203N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C607A	12						.						147.0	130.0	135.0					12																	4543401		2203	4300	6503	4413662	SO:0001583	missense	2251	exon3			X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"""Endogenous ligands"""	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.607C>A	12.37:g.4543401G>T	ENSP00000228837:p.His203Asn		4413662	NM_020996	Q0VAE1	Missense_Mutation	SNP	ENST00000228837.2	37	CCDS8527.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232519	0.79688	.	.	ENSG00000111241	ENST00000228837	T	0.33865	1.39	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.71771	0.3379	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81313	-0.0989	10	0.87932	D	0	.	18.2254	0.89915	0.0:0.0:1.0:0.0	.	203	P10767	FGF6_HUMAN	N	203	ENSP00000228837:H203N	ENSP00000228837:H203N	H	-	1	0	FGF6	4413662	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.168000	0.94781	2.381000	0.81170	0.655000	0.94253	CAT		0.493	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996	
NANOG	79923	broad.mit.edu	37	12	7947504	7947504	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr12:7947504G>C	ENST00000229307.4	+	4	950	c.731G>C	c.(730-732)gGa>gCa	p.G244A	NANOG_ENST00000526286.1_Missense_Mutation_p.G228A	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	244	Sufficient for strong transactivation activity. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.G244A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		TATAACTGTGGAGAGGAATCT	0.527																																					p.G244A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G731C	12						.						3.0	3.0	3.0					12																	7947504		1143	2446	3589	7838771	SO:0001583	missense	79923	exon4			AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"""Homeoboxes / ANTP class : NKL subclass"""	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.731G>C	12.37:g.7947504G>C	ENSP00000229307:p.Gly244Ala		7838771	NM_024865	D3DUU4|Q2TTG0|Q6JZS5	Missense_Mutation	SNP	ENST00000229307.4	37	CCDS31736.1	.	.	.	.	.	.	.	.	.	.	G	4.523	0.097011	0.08681	.	.	ENSG00000111704	ENST00000229307;ENST00000526286	D;D	0.95171	-3.63;-3.13	3.64	1.74	0.24563	.	0.610732	0.15706	N	0.248653	D	0.90239	0.6948	L	0.59436	1.845	0.09310	N	1	P	0.45011	0.848	B	0.43950	0.437	T	0.80672	-0.1278	10	0.07482	T	0.82	-0.8797	4.2471	0.10677	0.1248:0.0:0.6282:0.2471	.	244	Q9H9S0	NANOG_HUMAN	A	244;228	ENSP00000229307:G244A;ENSP00000435288:G228A	ENSP00000229307:G244A	G	+	2	0	NANOG	7838771	0.099000	0.21834	0.013000	0.15412	0.109000	0.19521	1.272000	0.33109	0.325000	0.23359	0.549000	0.68633	GGA		0.527	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387480.2	NM_024865	
A2ML1	144568	broad.mit.edu	37	12	8991767	8991767	+	Silent	SNP	C	C	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr12:8991767C>A	ENST00000299698.7	+	10	1209	c.1029C>A	c.(1027-1029)acC>acA	p.T343T		NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.T343T(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GATCAATGACCTTTGAAGACA	0.403																																					p.T343T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1029A	12						.						92.0	90.0	90.0					12																	8991767		1869	4108	5977	8883034	SO:0001819	synonymous_variant	144568	exon10			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1029C>A	12.37:g.8991767C>A			8883034	NM_144670		Silent	SNP	ENST00000299698.7	37	CCDS8596.2																																																																																				0.403	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	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)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.G12V	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,haematopoietic_and_lymphoid_tissue,NS,Substitution - Missense,0 	.	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	c.G35T	12						.						91.0	81.0	85.0					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	3845	exon2	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.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val		25289551	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
ADAMTS20	80070	broad.mit.edu	37	12	43944961	43944961	+	Silent	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr12:43944961G>A	ENST00000389420.3	-	2	203	c.204C>T	c.(202-204)tcC>tcT	p.S68S	ADAMTS20_ENST00000553158.1_Silent_p.S68S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	68					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S68S(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCAGCGCCTCGGAGCTGCGTT	0.597																																					p.S68S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C204T	12						.						108.0	100.0	103.0					12																	43944961		2203	4300	6503	42231228	SO:0001819	synonymous_variant	80070	exon2			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.204C>T	12.37:g.43944961G>A			42231228	NM_025003	A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	CCDS31778.2																																																																																				0.597	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
NCKAP1L	3071	broad.mit.edu	37	12	54925341	54925341	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr12:54925341A>C	ENST00000293373.6	+	24	2750	c.2671A>C	c.(2671-2673)Atg>Ctg	p.M891L	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.M841L	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	891					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.M891L(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GCCGGACTTGATGGCTTCCCT	0.488																																					p.M841L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2521C	12						.						105.0	100.0	102.0					12																	54925341		2203	4300	6503	53211608	SO:0001583	missense	3071	exon24			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2671A>C	12.37:g.54925341A>C	ENSP00000293373:p.Met891Leu		53211608	NM_001184976	B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.671947	0.88348	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.30714	1.52;1.52	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.55737	0.1939	M	0.80183	2.485	0.58432	D	0.999992	P	0.44309	0.832	D	0.64042	0.921	T	0.58989	-0.7538	10	0.59425	D	0.04	-26.7426	12.6108	0.56549	1.0:0.0:0.0:0.0	.	891	P55160	NCKPL_HUMAN	L	891;841	ENSP00000293373:M891L;ENSP00000445596:M841L	ENSP00000293373:M891L	M	+	1	0	NCKAP1L	53211608	1.000000	0.71417	0.992000	0.48379	0.812000	0.45895	6.839000	0.75364	2.147000	0.66899	0.533000	0.62120	ATG		0.488	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337	
ARHGAP9	64333	broad.mit.edu	37	12	57866443	57866443	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr12:57866443T>A	ENST00000356411.2	-	18	2248	c.2110A>T	c.(2110-2112)Atg>Ttg	p.M704L	ARHGAP9_ENST00000393797.2_Missense_Mutation_p.M775L|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.M501L|ARHGAP9_ENST00000424809.2_3'UTR|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.M685L			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	704	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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.M704L(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TGGGGTGTCATGCGATTCTTA	0.522																																					p.M501L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1501T	12						.						100.0	81.0	87.0					12																	57866443		2203	4300	6503	56152710	SO:0001583	missense	64333	exon16			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.2110A>T	12.37:g.57866443T>A	ENSP00000348782:p.Met704Leu		56152710	NM_001080156	B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37		.	.	.	.	.	.	.	.	.	.	T	28.8	4.950889	0.92660	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000393797;ENST00000340423;ENST00000430041	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	4.96	4.96	0.65561	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.61286	0.2335	M	0.83692	2.655	0.54753	D	0.999987	P;D;P	0.56746	0.856;0.977;0.87	P;D;D	0.69824	0.881;0.965;0.966	T	0.67313	-0.5702	10	0.87932	D	0	.	12.4943	0.55918	0.0:0.0:0.0:1.0	.	704;685;501	Q9BRR9;Q9BRR9-2;B4DVI3	RHG09_HUMAN;.;.	L	685;704;775;727;501	ENSP00000377380:M685L;ENSP00000348782:M704L;ENSP00000377386:M775L;ENSP00000397950:M501L	ENSP00000344852:M727L	M	-	1	0	ARHGAP9	56152710	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.904000	0.75708	2.008000	0.58898	0.533000	0.62120	ATG		0.522	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496	
CEP83	51134	broad.mit.edu	37	12	94761669	94761669	+	Missense_Mutation	SNP	T	T	A	rs202152669		TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr12:94761669T>A	ENST00000397809.5	-	11	1793	c.1244A>T	c.(1243-1245)cAt>cTt	p.H415L	CCDC41_ENST00000339839.5_Missense_Mutation_p.H415L|CCDC41_ENST00000397807.2_Missense_Mutation_p.H382L|CCDC41_ENST00000549352.1_5'Flank	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		407					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.H415L(1)		breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CCAGACATCATGTTCCACTTT	0.383																																					p.H415L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1244T	12						.						165.0	145.0	152.0					12																	94761669		1855	4108	5963	93285800	SO:0001583	missense	51134	exon11																														ENST00000397809.5:c.1244A>T	12.37:g.94761669T>A	ENSP00000380911:p.His415Leu		93285800	NM_016122	A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.612763	0.28712	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807	T;T;T	0.46819	1.07;1.07;0.86	5.83	-2.35	0.06684	.	.	.	.	.	T	0.30262	0.0759	N	0.19112	0.55	0.23946	N	0.996387	B;B	0.23249	0.082;0.034	B;B	0.25140	0.058;0.036	T	0.22312	-1.0220	9	0.27082	T	0.32	1.426	11.3787	0.49743	0.0:0.372:0.0:0.628	.	382;407	Q9Y592-2;Q9Y592	.;CCD41_HUMAN	L	415;415;382	ENSP00000344655:H415L;ENSP00000380911:H415L;ENSP00000380909:H382L	ENSP00000344655:H415L	H	-	2	0	CCDC41	93285800	1.000000	0.71417	0.192000	0.23308	0.740000	0.42216	1.780000	0.38634	-0.674000	0.05253	-0.250000	0.11733	CAT		0.383	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3		
ANKS1B	56899	broad.mit.edu	37	12	100166797	100166797	+	Nonsense_Mutation	SNP	G	G	T	rs374815422		TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr12:100166797G>T	ENST00000547776.2	-	8	1030	c.1031C>A	c.(1030-1032)tCg>tAg	p.S344*	ANKS1B_ENST00000329257.7_Nonsense_Mutation_p.S344*|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	344						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.S344*(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)		GTCTTCAAACGAATAATCCTT	0.353																																					p.S344X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1031A	12						.						135.0	127.0	130.0					12																	100166797		1827	4080	5907	98690928	SO:0001587	stop_gained	56899	exon8			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.1031C>A	12.37:g.100166797G>T	ENSP00000449629:p.Ser344*		98690928	NM_152788	A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Nonsense_Mutation	SNP	ENST00000547776.2	37	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	G	36	5.844532	0.97016	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.9573	17.9024	0.88909	0.0:0.0:1.0:0.0	.	.	.	.	X	344;344;310	.	.	S	-	2	0	ANKS1B	98690928	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	7.115000	0.77110	2.748000	0.94277	0.655000	0.94253	TCG		0.353	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140	
RIMBP2	23504	broad.mit.edu	37	12	130926936	130926936	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr12:130926936T>C	ENST00000261655.4	-	8	1073	c.910A>G	c.(910-912)Acc>Gcc	p.T304A	RIMBP2_ENST00000536002.1_Missense_Mutation_p.T212A|RIMBP2_ENST00000535703.1_Missense_Mutation_p.T212A	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	304	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TTGATGAGGGTGATTTTTCTA	0.567																																					p.T304A												.	.	0			c.A910G	12						.						167.0	154.0	158.0					12																	130926936		2203	4300	6503	129492889	SO:0001583	missense	23504	exon8			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.910A>G	12.37:g.130926936T>C	ENSP00000261655:p.Thr304Ala		129492889	NM_015347	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.901937	0.33535	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.54866	0.55;0.55;0.55	4.28	4.28	0.50868	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.119854	0.56097	D	0.000033	T	0.42245	0.1194	L	0.51853	1.615	0.38618	D	0.951062	B;B	0.17465	0.008;0.022	B;B	0.14578	0.009;0.011	T	0.34875	-0.9811	10	0.21014	T	0.42	-36.4605	8.2252	0.31564	0.0:0.0913:0.0:0.9087	.	212;304	O15034-2;O15034	.;RIMB2_HUMAN	A	304;212;212;212	ENSP00000261655:T304A;ENSP00000440347:T212A;ENSP00000439159:T212A	ENSP00000261655:T304A	T	-	1	0	RIMBP2	129492889	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.257000	0.72480	1.556000	0.49512	0.358000	0.22013	ACC		0.567	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
PCDH9	5101	broad.mit.edu	37	13	67800812	67800812	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr13:67800812C>G	ENST00000377865.2	-	1	1895	c.1761G>C	c.(1759-1761)aaG>aaC	p.K587N	PCDH9_ENST00000456367.1_Missense_Mutation_p.K587N|PCDH9_ENST00000544246.1_Missense_Mutation_p.K587N|PCDH9_ENST00000377861.3_Missense_Mutation_p.K587N|PCDH9_ENST00000328454.5_Missense_Mutation_p.K587N			Q9HC56	PCDH9_HUMAN	protocadherin 9	587	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.K587N(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)		CAGTACTATACTTTGGCAGAT	0.393																																					p.K587N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1761C	13						.						91.0	96.0	95.0					13																	67800812		2203	4300	6503	66698813	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.1761G>C	13.37:g.67800812C>G	ENSP00000367096:p.Lys587Asn		66698813	NM_020403	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231508	0.39399	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.55	5.55	0.83447	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.53045	0.1772	N	0.17872	0.535	0.80722	D	1	P;D;D;D	0.56035	0.943;0.974;0.968;0.974	P;P;P;P	0.60236	0.762;0.871;0.796;0.871	T	0.51164	-0.8740	10	0.42905	T	0.14	.	19.6982	0.96039	0.0:1.0:0.0:0.0	.	587;587;587;587	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	N	587	ENSP00000442186:K587N;ENSP00000367096:K587N;ENSP00000401699:K587N;ENSP00000332060:K587N;ENSP00000367092:K587N	ENSP00000332060:K587N	K	-	3	2	PCDH9	66698813	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.774000	0.55341	2.894000	0.99253	0.655000	0.94253	AAG		0.393	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
RAB15	376267	broad.mit.edu	37	14	65417779	65417779	+	Intron	SNP	T	T	C			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr14:65417779T>C	ENST00000533601.2	-	4	662				FNTB_ENST00000447296.2_Intron|RAB15_ENST00000267512.5_Missense_Mutation_p.T113A|CHURC1-FNTB_ENST00000549987.1_Intron|RAB15_ENST00000436278.2_Missense_Mutation_p.T67A|FNTB_ENST00000542227.1_Intron|RAB15_ENST00000426039.3_Intron			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family						protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	GTP binding (GO:0005525)	p.T113A(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		GGCAGTGAGGTGGCATCTCCT	0.567																																					p.T113A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A337G	14						.						66.0	62.0	63.0					14																	65417779		2203	4300	6503	64487532	SO:0001627	intron_variant	376267	exon4			BC014511	CCDS9768.1	14q23.2	2012-02-28	2012-02-28		ENSG00000139998	ENSG00000139998		"""RAB, member RAS oncogene"""	20150	protein-coding gene	gene with protein product						11697911	Standard	NM_198686		Approved		uc001xhz.2	P59190	OTTHUMG00000142810	ENST00000533601.2:c.324+12A>G	14.37:g.65417779T>C			64487532	NM_198686	G5EMR7|Q86TX7|Q8IW89	Missense_Mutation	SNP	ENST00000533601.2	37		.	.	.	.	.	.	.	.	.	.	T	11.60	1.688428	0.29962	.	.	ENSG00000139998	ENST00000267512	T	0.66099	-0.19	5.62	-5.01	0.02991	.	1.220590	0.06187	N	0.680562	T	0.36413	0.0966	N	0.11892	0.195	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25882	-1.0119	10	0.72032	D	0.01	.	2.4594	0.04538	0.22:0.1497:0.1087:0.5216	.	113	P59190-2	.	A	113	ENSP00000267512:T113A	ENSP00000267512:T113A	T	-	1	0	RAB15	64487532	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	-0.920000	0.04013	-0.539000	0.06273	-0.242000	0.12053	ACC		0.567	RAB15-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000390443.2	NM_198686	
PAPLN	89932	broad.mit.edu	37	14	73733533	73733535	+	Missense_Mutation	TNP	GGT	GGT	CTC			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	GGT	GGT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr14:73733533_73733535GGT>CTC	ENST00000554301.1	+	24	3657_3659	c.3494_3496GGT>CTC	c.(3493-3498)tGGTcc>tCTCcc	p.1165_1166WS>SP	PAPLN_ENST00000427855.1_Missense_Mutation_p.1165_1166WS>SP|PAPLN_ENST00000555445.1_Missense_Mutation_p.1149_1150WS>SP|PAPLN_ENST00000340738.5_Missense_Mutation_p.1138_1139WS>SP|PAPLN_ENST00000381166.3_Intron			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1165	Ig-like C2-type 3.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.W1138>?(1)|p.W1165>?(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)		AACATCAGGTGGTCCAGGTAAAG	0.547																																					.												.	.	2	Complex(2)	large_intestine(2)	c.3413_3415CTC	14						.																																			72803288	SO:0001583	missense	89932	exon24			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.3494_3496GGT>CTC	14.37:g.73733533GGT>CTC	ENSP00000451803:p.W1165_S1166delinsSP		72803286	NM_173462	B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	TNP	ENST00000554301.1	37																																																																																					0.547	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462	
GPATCH2L	55668	broad.mit.edu	37	14	76621206	76621206	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr14:76621206G>A	ENST00000261530.7	+	2	566	c.500G>A	c.(499-501)cGt>cAt	p.R167H	GPATCH2L_ENST00000556663.1_Missense_Mutation_p.R167H|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.R167H|GPATCH2L_ENST00000557263.1_Missense_Mutation_p.R167H	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	167								p.R167H(1)									AAGAAGCAGCGTCTGTCCCGC	0.507																																					p.R167H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G500A	14						.						59.0	59.0	59.0					14																	76621206		2203	4300	6503	75690959	SO:0001583	missense	55668	exon2			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.500G>A	14.37:g.76621206G>A	ENSP00000261530:p.Arg167His		75690959	NM_017926	B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Missense_Mutation	SNP	ENST00000261530.7	37	CCDS9848.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820078	0.50633	.	.	ENSG00000089916	ENST00000336993;ENST00000557263;ENST00000312858;ENST00000261530;ENST00000556663	T;T;T;T	0.49720	0.81;0.77;0.78;0.81	5.57	3.73	0.42828	.	0.233711	0.28322	N	0.015764	T	0.28764	0.0713	N	0.19112	0.55	0.80722	D	1	B;B;P	0.37141	0.0;0.0;0.584	B;B;B	0.28849	0.001;0.001;0.095	T	0.08310	-1.0728	10	0.56958	D	0.05	-18.6756	10.6231	0.45491	0.0687:0.0:0.7983:0.133	.	167;167;167	Q9NWQ4-1;Q9NWQ4-4;Q9NWQ4	.;.;CN118_HUMAN	H	167	ENSP00000451587:R167H;ENSP00000323775:R167H;ENSP00000261530:R167H;ENSP00000450657:R167H	ENSP00000261530:R167H	R	+	2	0	C14orf118	75690959	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.863000	0.69568	0.701000	0.31803	0.655000	0.94253	CGT		0.507	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926	
STON2	85439	broad.mit.edu	37	14	81743771	81743771	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr14:81743771C>A	ENST00000267540.2	-	4	2084	c.1884G>T	c.(1882-1884)agG>agT	p.R628S	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Missense_Mutation_p.R628S	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	628	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)		p.R628S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGATGTCCTGCCTCAAAACTA	0.527																																					p.R628S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1884T	14						.						63.0	56.0	59.0					14																	81743771		2203	4300	6503	80813524	SO:0001583	missense	85439	exon4			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.1884G>T	14.37:g.81743771C>A	ENSP00000267540:p.Arg628Ser		80813524	NM_033104	G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581279	0.46006	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.19250	2.16;2.16	5.9	1.93	0.25924	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.37376	0.1001	M	0.74467	2.265	0.53005	D	0.999964	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.14952	-1.0454	10	0.59425	D	0.04	-22.4142	2.5001	0.04631	0.1199:0.5079:0.1163:0.2559	.	628;628	Q8WXE9;G3V2T7	STON2_HUMAN;.	S	628;640;628	ENSP00000450857:R628S;ENSP00000267540:R628S	ENSP00000267540:R628S	R	-	3	2	STON2	80813524	0.997000	0.39634	0.997000	0.53966	0.783000	0.44284	0.505000	0.22642	0.400000	0.25396	0.650000	0.86243	AGG		0.527	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104	
AHNAK2	113146	broad.mit.edu	37	14	105416253	105416253	+	Silent	SNP	C	C	T	rs386781100|rs199771853	byFrequency	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr14:105416253C>T	ENST00000333244.5	-	7	5654	c.5535G>A	c.(5533-5535)tcG>tcA	p.S1845S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1845						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.S1845S(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)			ACACATCCACCGAGGCCTCGA	0.602													.|||	34	0.00678914	0.0061	0.0014	5008	,	,		19990	0.0248		0.0	False		,,,				2504	0.0				p.S1845S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5535A	14						.						176.0	214.0	202.0					14																	105416253		1931	4104	6035	104487298	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.5535G>A	14.37:g.105416253C>T			104487298	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
TUBGCP4	27229	broad.mit.edu	37	15	43675686	43675686	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr15:43675686G>T	ENST00000260383.7	+	7	961	c.707G>T	c.(706-708)aGa>aTa	p.R236I	TUBGCP4_ENST00000399460.3_Missense_Mutation_p.R100I|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.R236I			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	236					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)	p.R236I(1)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		AAACAACTGAGAGAACTGCAG	0.502																																					p.R236I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G707T	15						.						48.0	52.0	50.0					15																	43675686		2064	4211	6275	41462978	SO:0001583	missense	27229	exon7			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.707G>T	15.37:g.43675686G>T	ENSP00000260383:p.Arg236Ile		41462978	NM_014444	B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37		.	.	.	.	.	.	.	.	.	.	G	15.61	2.884737	0.51908	.	.	ENSG00000137822	ENST00000260383;ENST00000399460	T	0.45276	0.9	5.21	4.22	0.49857	.	0.046027	0.85682	D	0.000000	T	0.34164	0.0888	L	0.40543	1.245	0.80722	D	1	B;B	0.14438	0.01;0.008	B;B	0.18263	0.021;0.005	T	0.10314	-1.0635	10	0.38643	T	0.18	-8.123	11.6251	0.51139	0.0968:0.0:0.9032:0.0	.	236;236	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	I	236;100	ENSP00000260383:R236I	ENSP00000260383:R236I	R	+	2	0	TUBGCP4	41462978	1.000000	0.71417	0.946000	0.38457	0.988000	0.76386	7.569000	0.82380	1.175000	0.42826	0.462000	0.41574	AGA		0.502	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444	
ULK3	25989	broad.mit.edu	37	15	75134628	75134628	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr15:75134628T>G	ENST00000440863.2	-	2	327	c.236A>C	c.(235-237)gAc>gCc	p.D79A	ULK3_ENST00000568667.1_Missense_Mutation_p.D90A|ULK3_ENST00000569437.1_Missense_Mutation_p.D79A	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	79	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D79A(1)		breast(2)	2						CACCTGAAAGTCTTTCAGCTG	0.562																																					p.D79A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A236C	15						.						108.0	109.0	108.0					15																	75134628		1991	4159	6150	72921681	SO:0001583	missense	25989	exon2			BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"""unc-51-like kinase 3 (C. elegans)"""				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.236A>C	15.37:g.75134628T>G	ENSP00000400312:p.Asp79Ala		72921681	NM_001099436	B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Missense_Mutation	SNP	ENST00000440863.2	37	CCDS45305.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.573087	0.86542	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	T	0.27402	1.67	5.32	4.21	0.49690	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	0.46964	0.1420	L	0.51853	1.615	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	0.998;0.988;1.0	T	0.41070	-0.9529	10	0.72032	D	0.01	-14.6034	10.1153	0.42587	0.0:0.078:0.0:0.922	.	90;79;79	B4DFT0;Q6PHR2;Q6PHR2-3	.;ULK3_HUMAN;.	A	79;90	ENSP00000400312:D79A	ENSP00000393658:D90A	D	-	2	0	ULK3	72921681	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.679000	0.68160	0.879000	0.35944	0.533000	0.62120	GAC		0.562	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	NM_015518	
ALPK3	57538	broad.mit.edu	37	15	85400430	85400430	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr15:85400430C>A	ENST00000258888.5	+	6	3234	c.3067C>A	c.(3067-3069)Cca>Aca	p.P1023T		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1023					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATGCCGAGGGCCACAGTCATC	0.657																																					p.P1023T												.	.	0			c.C3067A	15						.						67.0	59.0	62.0					15																	85400430		2203	4297	6500	83201434	SO:0001583	missense	57538	exon6			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3067C>A	15.37:g.85400430C>A	ENSP00000258888:p.Pro1023Thr		83201434	NM_020778	Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	C	9.924	1.213012	0.22289	.	.	ENSG00000136383	ENST00000258888	T	0.63913	-0.07	3.51	-1.24	0.09435	.	3.456600	0.01078	N	0.004921	T	0.43366	0.1244	N	0.24115	0.695	0.09310	N	1	B	0.30068	0.267	B	0.27500	0.08	T	0.12553	-1.0543	10	0.17832	T	0.49	1.6474	3.9423	0.09333	0.0:0.4789:0.1794:0.3417	.	1023	Q96L96	ALPK3_HUMAN	T	1023	ENSP00000258888:P1023T	ENSP00000258888:P1023T	P	+	1	0	ALPK3	83201434	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-2.365000	0.01079	-0.098000	0.12285	0.467000	0.42956	CCA		0.657	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778	
ACAN	176	broad.mit.edu	37	15	89384993	89384993	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr15:89384993G>A	ENST00000561243.1	+	4	652	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	ACAN_ENST00000439576.2_Missense_Mutation_p.E218K|ACAN_ENST00000559004.1_Missense_Mutation_p.E218K|ACAN_ENST00000352105.7_Missense_Mutation_p.E218K|ACAN_ENST00000558207.1_Missense_Mutation_p.E218K			P16112	PGCA_HUMAN	aggrecan	218	G1-B.|Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CACTCCCCGGGAAGGCTGCTA	0.557																																					p.E218K												.	.	0			c.G652A	15						.						148.0	156.0	154.0					15																	89384993		2028	4182	6210	87185997	SO:0001583	missense	176	exon5			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.652G>A	15.37:g.89384993G>A	ENSP00000453342:p.Glu218Lys		87185997	NM_001135	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052607	0.75960	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.08102	3.13;3.13	5.61	5.61	0.85477	.	.	.	.	.	T	0.27278	0.0669	L	0.58428	1.81	0.38959	D	0.958514	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.99;0.99	T	0.00472	-1.1719	9	0.59425	D	0.04	-20.7782	18.2179	0.89893	0.0:0.0:1.0:0.0	.	218;218;218	E7ENV9;E7EX88;Q6PID9	.;.;.	K	218	ENSP00000387356:E218K;ENSP00000341615:E218K	ENSP00000268134:E218K	E	+	1	0	ACAN	87185997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.408000	0.59761	2.641000	0.89580	0.591000	0.81541	GAA		0.557	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	
WDR93	56964	broad.mit.edu	37	15	90245084	90245085	+	Missense_Mutation	DNP	AC	AC	GT	rs150558080		TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	AC	AC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr15:90245084_90245085AC>GT	ENST00000268130.7	+	2	208_209	c.107_108AC>GT	c.(106-108)gAC>gGT	p.D36G	WDR93_ENST00000560294.1_Missense_Mutation_p.D36G|WDR93_ENST00000558000.1_Missense_Mutation_p.D36G|RP11-300G22.2_ENST00000557964.1_RNA	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	36					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.D36>?(1)		NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TGGCCTAAAGACGATGAACAGG	0.505																																					.												.	.	1	Complex(1)	large_intestine(1)	c.107_108GT	15						.																																			88046089	SO:0001583	missense	56964	exon2				CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		Exception_encountered	15.37:g.90245084_90245085delinsGT	ENSP00000268130:p.Asp36Gly		88046088	NM_020212	Q8N7Y8|Q9NP89	Missense_Mutation	DNP	ENST00000268130.7	37	CCDS32326.1																																																																																				0.505	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212	
ST8SIA2	8128	broad.mit.edu	37	15	93007369	93007369	+	Silent	SNP	C	C	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr15:93007369C>A	ENST00000268164.3	+	6	1119	c.882C>A	c.(880-882)acC>acA	p.T294T	ST8SIA2_ENST00000539113.1_Silent_p.T273T	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	294					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|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)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.T294T(1)		endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			AAAGACCCACCACCGGCCTCT	0.448																																					p.T294T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C882A	15						.						37.0	37.0	37.0					15																	93007369		2198	4298	6496	90808373	SO:0001819	synonymous_variant	8128	exon6			U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.882C>A	15.37:g.93007369C>A			90808373	NM_006011	Q4VAZ0|Q92470|Q92746	Silent	SNP	ENST00000268164.3	37	CCDS10372.1																																																																																				0.448	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011	
PLK1	5347	broad.mit.edu	37	16	23702490	23702490	+	IGR	SNP	C	C	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr16:23702490C>T	ENST00000300093.4	+	0	2227				ERN2_ENST00000256797.4_Missense_Mutation_p.G891E|CTD-2196E14.5_ENST00000566143.1_RNA|ERN2_ENST00000457008.2_Missense_Mutation_p.G791E	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1						activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.G891E(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CACTGATGTCCCCTTATAGGA	0.617																																					p.G891E	Colon(12;240 564 27038 33155)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2672A	16						.						158.0	156.0	156.0					16																	23702490		2197	4300	6497	23609991	SO:0001628	intergenic_variant	10595	exon21				CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984		16.37:g.23702490C>T			23609991	NM_033266	Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018496	0.93404	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.29917	1.55;1.55	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.67477	0.2897	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77289	-0.2643	10	0.87932	D	0	.	16.8146	0.85730	0.0:1.0:0.0:0.0	.	791;843	E7ETG2;A5YM65	.;.	E	891;791	ENSP00000256797:G891E;ENSP00000413812:G791E	ENSP00000256797:G891E	G	-	2	0	ERN2	23609991	1.000000	0.71417	0.947000	0.38551	0.993000	0.82548	4.701000	0.61810	2.639000	0.89480	0.655000	0.94253	GGG		0.617	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030	
SLC5A11	115584	broad.mit.edu	37	16	24922824	24922824	+	Silent	SNP	C	C	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr16:24922824C>T	ENST00000347898.3	+	16	2620	c.1998C>T	c.(1996-1998)tgC>tgT	p.C666C	SLC5A11_ENST00000539472.1_Silent_p.C602C|SLC5A11_ENST00000565769.1_Silent_p.C602C|SLC5A11_ENST00000568579.1_Silent_p.C596C|SLC5A11_ENST00000569071.1_Silent_p.C510C|SLC5A11_ENST00000449109.2_Silent_p.C510C|SLC5A11_ENST00000567758.1_Silent_p.C631C|SLC5A11_ENST00000424767.2_Silent_p.C631C|SLC5A11_ENST00000545376.1_Silent_p.C596C	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.C666C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GCGTGAGCTGCGCCATCTTTA	0.478																																					p.C666C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1998T	16						.						153.0	153.0	153.0					16																	24922824		2197	4300	6497	24830325	SO:0001819	synonymous_variant	115584	exon16			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1998C>T	16.37:g.24922824C>T			24830325	NM_052944		Silent	SNP	ENST00000347898.3	37	CCDS10625.1																																																																																				0.478	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944	
GTF3C1	2975	broad.mit.edu	37	16	27544614	27544614	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr16:27544614G>T	ENST00000356183.4	-	5	862	c.847C>A	c.(847-849)Ctg>Atg	p.L283M	GTF3C1_ENST00000561623.1_Missense_Mutation_p.L283M	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	283					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AGGCTCACCAGCTCTTCCCTC	0.557																																					p.L283M												.	.	0			c.C847A	16						.						115.0	102.0	107.0					16																	27544614		2197	4300	6497	27452115	SO:0001583	missense	2975	exon5			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.847C>A	16.37:g.27544614G>T	ENSP00000348510:p.Leu283Met		27452115	NM_001520	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315451	0.40996	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.30448	1.53	5.96	5.01	0.66863	.	0.000000	0.64402	D	0.000006	T	0.36082	0.0954	N	0.14661	0.345	0.37613	D	0.921007	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.37197	-0.9716	10	0.33141	T	0.24	-0.2118	12.2514	0.54599	0.1402:0.0:0.8598:0.0	.	283;283	Q12789;Q12789-3	TF3C1_HUMAN;.	M	283;281	ENSP00000348510:L283M	ENSP00000348510:L283M	L	-	1	2	GTF3C1	27452115	1.000000	0.71417	0.920000	0.36463	0.286000	0.27126	2.297000	0.43593	1.538000	0.49270	-0.145000	0.13849	CTG		0.557	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520	
C16orf72	29035	broad.mit.edu	37	16	9197010	9197010	+	Silent	SNP	T	T	C			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr16:9197010T>C	ENST00000327827.7	+	3	874	c.477T>C	c.(475-477)gcT>gcC	p.A159A	RP11-473I1.9_ENST00000574285.1_RNA|RP11-473I1.5_ENST00000565648.1_RNA	NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	159								p.A159A(1)		endometrium(4)|large_intestine(2)|lung(2)	8						ACTCTAGAGCTCCCCCAAGAC	0.478																																					p.A159A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T477C	16						.						79.0	75.0	77.0					16																	9197010		2197	4300	6497	9104511	SO:0001819	synonymous_variant	29035	exon3			AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.477T>C	16.37:g.9197010T>C			9104511	NM_014117		Silent	SNP	ENST00000327827.7	37	CCDS10538.1																																																																																				0.478	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440760.2	NM_014117	
NUDT7	283927	broad.mit.edu	37	16	77775568	77775568	+	Silent	SNP	G	G	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr16:77775568G>T	ENST00000268533.5	+	4	507	c.438G>T	c.(436-438)ctG>ctT	p.L146L	NUDT7_ENST00000437314.3_Silent_p.L93L|NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000563839.1_3'UTR|NUDT7_ENST00000564085.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	146	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)	p.L146L(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						ATGTATTCCTGGTGCCTCTGG	0.443																																					p.L146L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G438T	16						.						98.0	94.0	95.0					16																	77775568		1943	4139	6082	76333069	SO:0001819	synonymous_variant	283927	exon4			AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.438G>T	16.37:g.77775568G>T			76333069	NM_001105663	B4DLE5|H3BUB8	Silent	SNP	ENST00000268533.5	37	CCDS42195.1																																																																																				0.443	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433873.1		
MLLT6	4302	broad.mit.edu	37	17	36872059	36872060	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr17:36872059_36872060insG	ENST00000325718.7	+	9	1105_1106	c.1014_1015insG	c.(1015-1017)gggfs	p.G339fs	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	339					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.P341fs*14(1)		breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					cctcctcctctGGGGGGCCCTT	0.564			T	MLL	AL																																p.S338fs			Dom	yes		17	17q21	4302	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""		L	.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1014_1015insG	17						.																																			34125586	SO:0001589	frameshift_variant	4302	exon9				CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.1020dupG	17.37:g.36872065_36872065dupG	ENSP00000316426:p.Gly339fs		34125585	NM_005937	Q59F28|Q96IU3|Q9H5F6|Q9UF49	Frame_Shift_Ins	INS	ENST00000325718.7	37	CCDS11327.1																																																																																				0.564	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937	
KIAA0100	9703	broad.mit.edu	37	17	26965337	26965337	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr17:26965337C>T	ENST00000528896.2	-	13	1519	c.1445G>A	c.(1444-1446)cGg>cAg	p.R482Q	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R339Q|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R339Q	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	482						extracellular region (GO:0005576)		p.R482L(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GTGTGGCGCCCGCTGAATGTG	0.577																																					p.R482Q												.	.	1	Substitution - Missense(1)	lung(1)	c.G1445A	17						.						60.0	58.0	58.0					17																	26965337		2203	4300	6503	23989464	SO:0001583	missense	9703	exon13			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1445G>A	17.37:g.26965337C>T	ENSP00000436773:p.Arg482Gln		23989464	NM_014680	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707565	0.48412	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.23147	1.94;1.92	5.83	5.83	0.93111	FMP27, N-terminal (1);	0.055560	0.85682	D	0.000000	T	0.12433	0.0302	N	0.08118	0	0.39147	D	0.962158	B	0.34147	0.438	B	0.30716	0.119	T	0.25606	-1.0127	10	0.13470	T	0.59	.	13.347	0.60580	0.0:0.9283:0.0:0.0717	.	482	Q14667	K0100_HUMAN	Q	482;482;482;339	ENSP00000436773:R482Q;ENSP00000446443:R339Q	ENSP00000005905:R482Q	R	-	2	0	KIAA0100	23989464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.525000	0.67110	2.763000	0.94921	0.563000	0.77884	CGG		0.577	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680	
NEK8	284086	broad.mit.edu	37	17	27068232	27068232	+	Silent	SNP	C	C	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr17:27068232C>T	ENST00000268766.6	+	13	1903	c.1869C>T	c.(1867-1869)gcC>gcT	p.A623A	AC010761.6_ENST00000584779.1_RNA|TRAF4_ENST00000262395.5_5'Flank|TRAF4_ENST00000262396.6_5'Flank|TRAF4_ENST00000444415.3_5'Flank|AC010761.6_ENST00000582536.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	623					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.A634A(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GTGGGGATGCCTTCACTGTAG	0.602																																					p.A623A	NSCLC(6;19 293 14866 25253 49845)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1869T	17						.						52.0	41.0	44.0					17																	27068232		2203	4300	6503	24092359	SO:0001819	synonymous_variant	284086	exon13			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1869C>T	17.37:g.27068232C>T			24092359	NM_178170	A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Silent	SNP	ENST00000268766.6	37	CCDS32597.1																																																																																				0.602	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2		
EFCAB5	374786	broad.mit.edu	37	17	28296186	28296186	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr17:28296186T>A	ENST00000394835.3	+	4	760	c.568T>A	c.(568-570)Tta>Ata	p.L190I	EFCAB5_ENST00000534836.2_Intron|EFCAB5_ENST00000378738.3_Missense_Mutation_p.L190I|EFCAB5_ENST00000394832.2_Missense_Mutation_p.L190I|EFCAB5_ENST00000320856.5_Missense_Mutation_p.L190I|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000536908.2_Missense_Mutation_p.L134I	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	190							calcium ion binding (GO:0005509)	p.L190I(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGAAAACATGTTAACTCAAGT	0.363																																					p.L134I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T400A	17						.						44.0	45.0	45.0					17																	28296186		1832	4091	5923	25320312	SO:0001583	missense	374786	exon4			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.568T>A	17.37:g.28296186T>A	ENSP00000378312:p.Leu190Ile		25320312	NM_001145053	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	T	10.35	1.325227	0.24080	.	.	ENSG00000176927	ENST00000536908;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598	T;T;T;T;T	0.53206	0.71;1.82;1.77;1.0;0.63	5.31	3.08	0.35506	.	.	.	.	.	T	0.57710	0.2072	L	0.53249	1.67	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;0.997;0.997;0.997	T	0.54397	-0.8300	8	.	.	.	-9.6753	6.9672	0.24629	0.0:0.2575:0.0:0.7425	.	134;190;190;190	F5GYL2;B5MEA3;E7EVS9;A4FU69	.;.;.;EFCB5_HUMAN	I	134;190;190;190;190;134	ENSP00000440619:L134I;ENSP00000378312:L190I;ENSP00000322003:L190I;ENSP00000378309:L190I;ENSP00000368012:L190I	.	L	+	1	2	EFCAB5	25320312	1.000000	0.71417	0.985000	0.45067	0.064000	0.16182	1.057000	0.30492	0.970000	0.38263	0.533000	0.62120	TTA		0.363	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529	
TAF15	8148	broad.mit.edu	37	17	34171772	34171772	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr17:34171772G>A	ENST00000588240.1	+	15	1584	c.1469G>A	c.(1468-1470)cGa>cAa	p.R490Q	TAF15_ENST00000592237.1_Intron|TAF15_ENST00000311979.3_Missense_Mutation_p.R487Q	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|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)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R490Q(1)	TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ggaggagaccgaggtggaggc	0.612			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																p.R490Q			Dom	yes		17	17q11.1-q11.2	8148	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""		"""L, M"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1469A	17						.						69.0	59.0	62.0					17																	34171772		2203	4300	6503	31195885	SO:0001583	missense	8148	exon15			U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1469G>A	17.37:g.34171772G>A	ENSP00000466950:p.Arg490Gln		31195885	NM_139215	D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000588240.1	37	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669513	0.47677	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	3.56	2.58	0.30949	.	.	.	.	.	T	0.22975	0.0555	N	0.08118	0	0.25506	N	0.987505	B;B	0.23490	0.052;0.086	B;B	0.12837	0.003;0.008	T	0.19418	-1.0306	8	0.87932	D	0	-4.7048	9.2391	0.37484	0.116:0.0:0.884:0.0	.	490;487	Q92804;Q92804-2	RBP56_HUMAN;.	Q	490;293	.	ENSP00000309558:R490Q	R	+	2	0	TAF15	31195885	0.087000	0.21565	0.634000	0.29324	0.690000	0.40134	1.230000	0.32612	0.792000	0.33850	0.591000	0.81541	CGA		0.612	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215	
MED24	9862	broad.mit.edu	37	17	38187796	38187797	+	Missense_Mutation	DNP	GC	GC	TG			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	GC	GC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr17:38187796_38187797GC>TG	ENST00000394128.2	-	11	1142_1143	c.1061_1062GC>CA	c.(1060-1062)cGC>cCA	p.R354P	MED24_ENST00000394126.1_Missense_Mutation_p.R379P|MED24_ENST00000356271.3_Missense_Mutation_p.R341P|MED24_ENST00000394127.2_Missense_Mutation_p.R341P|MED24_ENST00000501516.3_Missense_Mutation_p.R373P|MED24_ENST00000479829.1_5'Flank	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	354					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R354>?(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CATACTTGCAGCGCTGGTCAGC	0.559																																					.												.	.	1	Complex(1)	large_intestine(1)	c.1022_1023CA	17						.																																			35441323	SO:0001583	missense	9862	exon10			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.1061_1062delinsTG	17.37:g.38187796_38187797delinsTG	ENSP00000377686:p.Arg354Pro		35441322	NM_001079518	A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	DNP	ENST00000394128.2	37	CCDS11359.1																																																																																				0.559	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815	
NR1D1	9572	broad.mit.edu	37	17	38252831	38252831	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr17:38252831G>A	ENST00000246672.3	-	4	1099	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	157	Crucial for activation of GJA1. {ECO:0000250}.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R157C(1)		endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					ATGCTCCGACGGAAAAAGCCC	0.592																																					p.R157C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C469T	17						.						98.0	91.0	93.0					17																	38252831		2203	4300	6503	35506357	SO:0001583	missense	9572	exon4			X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"""Nuclear hormone receptors"""	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.469C>T	17.37:g.38252831G>A	ENSP00000246672:p.Arg157Cys		35506357	NM_021724	Q0P5Z4|Q15304	Missense_Mutation	SNP	ENST00000246672.3	37	CCDS11361.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179495	0.78564	.	.	ENSG00000126368	ENST00000246672	D	0.97941	-4.62	4.38	4.38	0.52667	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.64402	D	0.000003	D	0.99381	0.9782	H	0.99764	4.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97933	1.0321	10	0.87932	D	0	.	15.8492	0.78912	0.0:0.0:1.0:0.0	.	157	P20393	NR1D1_HUMAN	C	157	ENSP00000246672:R157C	ENSP00000246672:R157C	R	-	1	0	NR1D1	35506357	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	1.745000	0.38278	2.266000	0.75297	0.313000	0.20887	CGT		0.592	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257135.1		
KRT33B	3884	broad.mit.edu	37	17	39521444	39521444	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr17:39521444G>T	ENST00000251646.3	-	5	908	c.859C>A	c.(859-861)Cag>Aag	p.Q287K		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	287	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TGCTGGGCCTGCAGCTCGATC	0.587																																					p.Q287K												.	.	0			c.C859A	17						.						95.0	86.0	89.0					17																	39521444		2191	4297	6488	36774970	SO:0001583	missense	3884	exon5			X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.859C>A	17.37:g.39521444G>T	ENSP00000251646:p.Gln287Lys		36774970	NM_002279	O76010	Missense_Mutation	SNP	ENST00000251646.3	37	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	g	18.62	3.662755	0.67700	.	.	ENSG00000131738	ENST00000251646	D	0.89123	-2.47	4.93	4.93	0.64822	Filament (1);	0.099650	0.45126	D	0.000383	D	0.94407	0.8201	H	0.97465	4.01	0.47123	D	0.999322	P	0.36465	0.554	B	0.41813	0.367	D	0.95750	0.8791	10	0.87932	D	0	.	17.6564	0.88179	0.0:0.0:1.0:0.0	.	287	Q14525	KT33B_HUMAN	K	287	ENSP00000251646:Q287K	ENSP00000251646:Q287K	Q	-	1	0	KRT33B	36774970	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	7.354000	0.79424	2.710000	0.92621	0.650000	0.86243	CAG		0.587	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279	
ARL4D	379	broad.mit.edu	37	17	41477385	41477386	+	Missense_Mutation	DNP	CG	CG	GT			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	CG	CG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr17:41477385_41477386CG>GT	ENST00000320033.4	+	2	492_493	c.285_286CG>GT	c.(283-288)gaCGgt>gaGTgt	p.95_96DG>EC		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	95					GTP catabolic process (GO:0006184)|protein secretion (GO:0009306)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G96C(1)|p.D95>?(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GCCGGACAGACGGTCTAGTGTT	0.658																																					.												.	.	2	Substitution - Missense(1)|Complex(1)	large_intestine(1)|lung(1)	c.285_286GT	17						.																																			38832912	SO:0001583	missense	379	exon2			AB060692	CCDS11463.1	17q21.31	2014-05-09	2005-11-03	2005-11-03	ENSG00000175906	ENSG00000175906		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	656	protein-coding gene	gene with protein product		600732	"""ADP-ribosylation factor 4-like"""	ARF4L		7590735	Standard	NM_001661		Approved		uc002idt.3	P49703		Exception_encountered	17.37:g.41477385_41477386delinsGT	ENSP00000322628:p.D95_G96delinsEC		38832911	NM_001661	B2RC59|D3DX43	Missense_Mutation	DNP	ENST00000320033.4	37	CCDS11463.1																																																																																				0.658	ARL4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453481.2	NM_001661	
HOXB2	3212	broad.mit.edu	37	17	46622181	46622181	+	Silent	SNP	T	T	C			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr17:46622181T>C	ENST00000330070.4	-	1	1260	c.93A>G	c.(91-93)acA>acG	p.T31T	HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB2_ENST00000504772.3_5'Flank	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	31					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T31T(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						AAGTTTGAAATGTCTCCAAGA	0.512																																					p.T31T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A93G	17						.						53.0	63.0	60.0					17																	46622181		2203	4300	6503	43977180	SO:0001819	synonymous_variant	3212	exon1				CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.93A>G	17.37:g.46622181T>C			43977180	NM_002145	P10913|P17485	Silent	SNP	ENST00000330070.4	37	CCDS11527.1																																																																																				0.512	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358384.2		
EFCAB3	146779	broad.mit.edu	37	17	60460352	60460352	+	Silent	SNP	A	A	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr17:60460352A>T	ENST00000305286.3	+	2	90	c.12A>T	c.(10-12)tcA>tcT	p.S4S	RNU7-52P_ENST00000516172.1_RNA|EFCAB3_ENST00000450662.2_Silent_p.S56S	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	4							calcium ion binding (GO:0005509)	p.S4S(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TGGCAGTTTCAGAAATTAAAC	0.323																																					p.S4S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A12T	17						.						68.0	62.0	64.0					17																	60460352		2203	4300	6503	57814084	SO:0001819	synonymous_variant	146779	exon2			AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.12A>T	17.37:g.60460352A>T			57814084	NM_173503	J3KQM8	Silent	SNP	ENST00000305286.3	37	CCDS11632.1																																																																																				0.323	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	NM_173503	
KIAA0195	9772	broad.mit.edu	37	17	73491018	73491018	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr17:73491018C>G	ENST00000314256.7	+	20	3025	c.2631C>G	c.(2629-2631)tgC>tgG	p.C877W	AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000579208.1_Missense_Mutation_p.C528W|KIAA0195_ENST00000375248.5_Missense_Mutation_p.C887W	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	877						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.C877W(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGGAACTGCCACATCTCCC	0.577																																					p.C877W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2631G	17						.						80.0	85.0	83.0					17																	73491018		2203	4300	6503	71002613	SO:0001583	missense	9772	exon20				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2631C>G	17.37:g.73491018C>G	ENSP00000313885:p.Cys877Trp		71002613	NM_014738	O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332067	0.24167	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.72835	-0.69;-0.69	5.53	1.23	0.21249	.	0.000000	0.85682	D	0.000000	T	0.80287	0.4595	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.994;0.997;0.994	T	0.79603	-0.1735	10	0.87932	D	0	-26.12	10.3147	0.43729	0.0:0.6071:0.0:0.3929	.	887;887;877	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	W	877;887	ENSP00000313885:C877W;ENSP00000364397:C887W	ENSP00000313885:C877W	C	+	3	2	KIAA0195	71002613	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.039000	0.30266	0.299000	0.22661	0.467000	0.42956	TGC		0.577	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738	
ACOX1	51	broad.mit.edu	37	17	73949563	73949564	+	Missense_Mutation	DNP	CG	CG	GT	rs144826451	byFrequency	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	CG	CG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr17:73949563_73949564CG>GT	ENST00000301608.4	-	7	972_973	c.912_913CG>AC	c.(910-915)agCGct>agACct	p.304_305SA>RP	ACOX1_ENST00000591857.1_5'Flank|ACOX1_ENST00000293217.5_Missense_Mutation_p.304_305SA>RP|ACOX1_ENST00000537812.1_Missense_Mutation_p.266_267SA>RP	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	304					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)	p.S304>?(2)		large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	TGCCTCACAGCGCTGTATCGGA	0.525																																					.												.	.	2	Complex(2)	large_intestine(2)	c.912_913AC	17						.																																			71461159	SO:0001583	missense	51	exon7			U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.912_913delinsGT	17.37:g.73949563_73949564delinsGT	ENSP00000301608:p.S304_A305delinsRP		71461158	NM_007292	A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	DNP	ENST00000301608.4	37	CCDS11735.1																																																																																				0.525	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1		
EVPL	2125	broad.mit.edu	37	17	74005318	74005319	+	Missense_Mutation	DNP	TC	TC	CT			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	TC	TC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr17:74005318_74005319TC>CT	ENST00000301607.3	-	22	4220_4221	c.3967_3968GA>AG	c.(3967-3969)GAc>AGc	p.D1323S	EVPL_ENST00000586740.1_Missense_Mutation_p.D1345S	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1323	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.D1323>?(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CAGCACCGGGTCCTTCTCGTGG	0.698																																					.												.	.	1	Complex(1)	large_intestine(1)	c.3967_3968AG	17						.																																			71516914	SO:0001583	missense	2125	exon22			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.3967_3968delinsCT	17.37:g.74005318_74005319delinsCT	ENSP00000301607:p.Asp1323Ser		71516913	NM_001988	A0AUV5	Missense_Mutation	DNP	ENST00000301607.3	37	CCDS11737.1																																																																																				0.698	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988	
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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.R175H	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,lung,NS,Substitution - Missense,0 	.	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	c.G524A	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578	.						50.0	50.0	50.0					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	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	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
EVPL	2125	broad.mit.edu	37	17	74005490	74005490	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr17:74005490C>T	ENST00000301607.3	-	22	4049	c.3796G>A	c.(3796-3798)Gtg>Atg	p.V1266M	EVPL_ENST00000586740.1_Missense_Mutation_p.V1288M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1266	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCACGCAGCACCTCGGGGCTC	0.667																																					p.V1266M												.	.	0			c.G3796A	17						.						100.0	86.0	91.0					17																	74005490		2203	4300	6503	71517085	SO:0001583	missense	2125	exon22			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.3796G>A	17.37:g.74005490C>T	ENSP00000301607:p.Val1266Met		71517085	NM_001988	A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295216	0.40594	.	.	ENSG00000167880	ENST00000301607	T	0.52057	0.68	5.03	2.61	0.31194	.	0.348668	0.31507	N	0.007522	T	0.35335	0.0928	L	0.50333	1.59	0.24313	N	0.99507	P;P	0.48230	0.907;0.664	B;B	0.43251	0.413;0.246	T	0.17137	-1.0379	10	0.30078	T	0.28	-33.876	2.2322	0.03999	0.1925:0.4754:0.1894:0.1427	.	1288;1266	B7ZLH8;Q92817	.;EVPL_HUMAN	M	1266	ENSP00000301607:V1266M	ENSP00000301607:V1266M	V	-	1	0	EVPL	71517085	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	1.275000	0.33144	1.112000	0.41740	0.555000	0.69702	GTG		0.667	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988	
NPC1	4864	broad.mit.edu	37	18	21121288	21121288	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr18:21121288T>G	ENST00000269228.5	-	15	2909	c.2355A>C	c.(2353-2355)ttA>ttC	p.L785F	NPC1_ENST00000412552.2_Missense_Mutation_p.L467F|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	785	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)	p.L785F(1)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTTTAATGTCTAACCCCAAGA	0.448																																					p.L785F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2355C	18						.						99.0	94.0	96.0					18																	21121288		2203	4300	6503	19375286	SO:0001583	missense	4864	exon15			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2355A>C	18.37:g.21121288T>G	ENSP00000269228:p.Leu785Phe		19375286	NM_000271	B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705048	0.68615	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.96554	-4.05;-4.05	5.89	-0.561	0.11785	Sterol-sensing domain (1);	0.000000	0.64402	D	0.000001	D	0.97155	0.9070	M	0.80028	2.48	0.80722	D	1	P;D	0.69078	0.91;0.997	P;D	0.65573	0.782;0.936	D	0.95691	0.8740	10	0.59425	D	0.04	-12.845	10.5437	0.45047	0.0:0.6738:0.0:0.3262	.	796;785	Q59GR1;O15118	.;NPC1_HUMAN	F	785;467;630	ENSP00000269228:L785F;ENSP00000408606:L467F	ENSP00000269228:L785F	L	-	3	2	NPC1	19375286	1.000000	0.71417	0.731000	0.30826	0.868000	0.49771	0.815000	0.27253	-0.056000	0.13221	0.459000	0.35465	TTA		0.448	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271	
ATP8B1	5205	broad.mit.edu	37	18	55322548	55322548	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr18:55322548G>C	ENST00000283684.4	-	22	2808	c.2809C>G	c.(2809-2811)Ctg>Gtg	p.L937V	RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.L937V			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	937					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L937V(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CCATGCACCAGCAGTAGCCTC	0.443																																					p.L937V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2809G	18						.						156.0	132.0	140.0					18																	55322548		2203	4300	6503	53473546	SO:0001583	missense	5205	exon23			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.2809C>G	18.37:g.55322548G>C	ENSP00000283684:p.Leu937Val		53473546	NM_005603	Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.533748	0.64972	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.67345	-0.26;-0.26	6.04	-3.91	0.04168	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.84620	0.5512	H	0.94542	3.55	0.58432	D	0.999998	D	0.71674	0.998	D	0.80764	0.994	D	0.87981	0.2743	10	0.87932	D	0	.	18.498	0.90872	0.1844:0.0:0.8156:0.0	.	937	O43520	AT8B1_HUMAN	V	937	ENSP00000283684:L937V;ENSP00000445359:L937V	ENSP00000283684:L937V	L	-	1	2	ATP8B1	53473546	0.996000	0.38824	0.868000	0.34077	0.846000	0.48090	0.259000	0.18405	-0.680000	0.05211	-0.291000	0.09656	CTG		0.443	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603	
CKM	1158	broad.mit.edu	37	19	45811712	45811713	+	Frame_Shift_Ins	INS	-	-	C	rs60621776		TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr19:45811712_45811713insC	ENST00000221476.3	-	6	905_906	c.731_732insG	c.(730-732)ggcfs	p.G244fs		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	244	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)	p.N245fs*17(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	CCTTCATGTTGCCCCCCTTCTC	0.579																																					p.G244fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.732_733insG	19						.																																			50503553	SO:0001589	frameshift_variant	1158	exon6			M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.732dupG	19.37:g.45811718_45811718dupC	ENSP00000221476:p.Gly244fs		50503552	NM_001824	Q96QL9	Frame_Shift_Ins	INS	ENST00000221476.3	37	CCDS12659.1																																																																																				0.579	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1		
UNC13A	23025	broad.mit.edu	37	19	17750252	17750252	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr19:17750252C>T	ENST00000519716.2	-	24	2938	c.2939G>A	c.(2938-2940)cGg>cAg	p.R980Q	UNC13A_ENST00000551649.1_Missense_Mutation_p.R980Q|UNC13A_ENST00000550896.1_Missense_Mutation_p.R978Q|UNC13A_ENST00000252773.7_Missense_Mutation_p.R980Q|UNC13A_ENST00000552293.1_Missense_Mutation_p.R980Q|UNC13A_ENST00000428389.2_Missense_Mutation_p.R1068Q	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	980					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.R980Q(1)|p.R1068Q(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TACCTTCATCCGAAAGAAGGT	0.542																																					p.R980Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2939A	19						.						65.0	64.0	64.0					19																	17750252		1940	4136	6076	17611252	SO:0001583	missense	23025	exon23			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.2939G>A	19.37:g.17750252C>T	ENSP00000429562:p.Arg980Gln		17611252	NM_001080421	E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710229	0.89018	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.84944	-1.88;-1.92;-1.88;-1.74;-1.77;-1.91	3.62	3.62	0.41486	.	0.000000	0.85682	U	0.000000	D	0.91088	0.7195	M	0.79475	2.455	0.50171	D	0.999857	D	0.76494	0.999	D	0.68353	0.957	D	0.92272	0.5826	10	0.87932	D	0	-18.9356	13.2006	0.59765	0.0:1.0:0.0:0.0	.	980	Q9UPW8	UN13A_HUMAN	Q	980;1068;980;980;980;978	ENSP00000429562:R980Q;ENSP00000400409:R1068Q;ENSP00000252773:R980Q;ENSP00000447236:R980Q;ENSP00000447572:R980Q;ENSP00000446831:R978Q	ENSP00000252773:R980Q	R	-	2	0	UNC13A	17611252	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	7.369000	0.79578	1.736000	0.51660	0.298000	0.19748	CGG		0.542	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	
PDE4C	5143	broad.mit.edu	37	19	18329239	18329240	+	Missense_Mutation	DNP	CT	CT	TG	rs1042050	byFrequency	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	CT	CT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr19:18329239_18329240CT>TG	ENST00000355502.3	-	14	2005_2006	c.1134_1135AG>CA	c.(1132-1137)gaAGgt>gaCAgt	p.378_379EG>DS	PDE4C_ENST00000539010.1_Missense_Mutation_p.147_148EG>DS|PDE4C_ENST00000597297.1_Missense_Mutation_p.148_149EG>DS|PDE4C_ENST00000262805.12_Missense_Mutation_p.346_347EG>DS|PDE4C_ENST00000594465.3_Missense_Mutation_p.378_379EG>DS|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000447275.3_Missense_Mutation_p.272_273EG>DS|PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000594617.3_Missense_Mutation_p.378_379EG>DS			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	378					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.E378>?(1)|p.E378E(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TGGTAGTGACCTTCCAGCATCA	0.619																																					.												.	.	2	Complex(1)|Substitution - coding silent(1)	large_intestine(1)|stomach(1)	c.1134_1135CA	19						.																																			18190240	SO:0001583	missense	5143	exon11				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1134_1135delinsTG	19.37:g.18329239_18329240delinsTG	ENSP00000347689:p.E378_G379delinsDS		18190239	NM_000923	B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	DNP	ENST00000355502.3	37	CCDS12373.1																																																																																				0.619	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1		
USF2	7392	broad.mit.edu	37	19	35761352	35761352	+	Silent	SNP	T	T	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr19:35761352T>G	ENST00000222305.3	+	5	469	c.432T>G	c.(430-432)gcT>gcG	p.A144A	USF2_ENST00000595068.1_Silent_p.A144A|USF2_ENST00000594064.1_Silent_p.A142A|USF2_ENST00000343550.5_Silent_p.A77A|USF2_ENST00000379134.3_Intron	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	144					lactation (GO:0007595)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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)	p.A144A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTCCCCAGGCTGTGATCCAAA	0.567																																					p.A144A	NSCLC(103;173 2832 8890)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T432G	19						.						73.0	72.0	73.0					19																	35761352		2203	4300	6503	40453192	SO:0001819	synonymous_variant	7392	exon5			AY007087	CCDS12452.1, CCDS12453.1	19q13	2013-05-21				ENSG00000105698		"""Basic helix-loop-helix proteins"""	12594	protein-coding gene	gene with protein product		600390				8954795	Standard	NM_003367		Approved	FIP, bHLHb12	uc002nyq.1	Q15853		ENST00000222305.3:c.432T>G	19.37:g.35761352T>G			40453192	NM_003367	O00671|O00709|Q05750|Q07952|Q15851|Q15852|Q6FI33|Q6YI47	Silent	SNP	ENST00000222305.3	37	CCDS12452.1																																																																																				0.567	USF2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466056.1	NM_003367	
RBM42	79171	broad.mit.edu	37	19	36128214	36128215	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	GG	GG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr19:36128214_36128215GG>TT	ENST00000262633.4	+	9	1395_1396	c.1290_1291GG>TT	c.(1288-1293)aaGGac>aaTTac	p.430_431KD>NY	RBM42_ENST00000360475.4_Missense_Mutation_p.401_402KD>NY|RBM42_ENST00000592202.1_Missense_Mutation_p.376_377KD>NY|RBM42_ENST00000586618.1_Missense_Mutation_p.134_135KD>NY|RBM42_ENST00000589559.1_Intron|RBM42_ENST00000588161.1_Missense_Mutation_p.400_401KD>NY|RBM42_ENST00000589871.1_Missense_Mutation_p.408_409KD>NY	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	430	Necessary for interaction with HNRNPK. {ECO:0000250}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K430>?(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCAGCTTCAAGGACCCCAGCGA	0.644																																					.												.	.	1	Complex(1)	large_intestine(1)	c.1290_1291TT	19						.																																			40820055	SO:0001583	missense	79171	exon9			BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		Exception_encountered	19.37:g.36128214_36128215delinsTT	ENSP00000262633:p.K430_D431delinsNY		40820054	NM_024321	O00320|Q8N5R7|Q9BU66	Missense_Mutation	DNP	ENST00000262633.4	37	CCDS12468.1																																																																																				0.644	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321	
NPHS1	4868	broad.mit.edu	37	19	36332762	36332762	+	Silent	SNP	C	C	T	rs386833924		TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr19:36332762C>T	ENST00000378910.5	-	20	2669	c.2670G>A	c.(2668-2670)acG>acA	p.T890T	NPHS1_ENST00000353632.6_Silent_p.T890T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	890	Ig-like C2-type 8.				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.T890T(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)			ATGTGTGCTCCGTGTACCTAG	0.532																																					p.T890T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2670A	19	GRCh37	CD082165	NPHS1	D		.						160.0	113.0	129.0					19																	36332762		2203	4300	6503	41024602	SO:0001819	synonymous_variant	4868	exon20				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.2670G>A	19.37:g.36332762C>T			41024602	NM_004646	A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	CCDS32996.1																																																																																				0.532	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1		
RYR1	6261	broad.mit.edu	37	19	38993310	38993310	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr19:38993310G>A	ENST00000359596.3	+	48	7778	c.7778G>A	c.(7777-7779)cGt>cAt	p.R2593H	RYR1_ENST00000355481.4_Missense_Mutation_p.R2593H|RYR1_ENST00000360985.3_Missense_Mutation_p.R2593H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2593	6 X approximate repeats.		R -> G (in MHS1). {ECO:0000269|PubMed:20681998}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R2593H(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCTCGGGGTCGTTCGCTCACC	0.652																																					p.R2593H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7778A	19						.						69.0	55.0	60.0					19																	38993310		2203	4300	6503	43685150	SO:0001583	missense	6261	exon48			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7778G>A	19.37:g.38993310G>A	ENSP00000352608:p.Arg2593His		43685150	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587458	0.46110	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97352	-4.35;-4.35;-4.35	4.08	4.08	0.47627	.	0.000000	0.64402	U	0.000005	D	0.98232	0.9415	M	0.80746	2.51	0.51012	D	0.9999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.987	D	0.98816	1.0745	10	0.62326	D	0.03	.	15.5776	0.76404	0.0:0.0:1.0:0.0	.	2593;2593	P21817-2;P21817	.;RYR1_HUMAN	H	2593	ENSP00000352608:R2593H;ENSP00000347667:R2593H;ENSP00000354254:R2593H	ENSP00000347667:R2593H	R	+	2	0	RYR1	43685150	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	9.456000	0.97628	2.265000	0.75225	0.467000	0.42956	CGT		0.652	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
CABP5	56344	broad.mit.edu	37	19	48533818	48533818	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr19:48533818C>T	ENST00000293255.2	-	6	648	c.518G>A	c.(517-519)cGc>cAc	p.R173H		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	173	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)	p.R173H(1)		endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		ACCTCCTCAGCGAGACATCAT	0.483																																					p.R173H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G518A	19						.						82.0	81.0	81.0					19																	48533818		2203	4300	6503	53225630	SO:0001583	missense	56344	exon6			AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507		"""EF-hand domain containing"""	13714	protein-coding gene	gene with protein product		607315	"""calcium binding protein 3"""	CABP3		10625670	Standard	NM_019855		Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.518G>A	19.37:g.48533818C>T	ENSP00000293255:p.Arg173His		53225630	NM_019855	A0AUY4	Missense_Mutation	SNP	ENST00000293255.2	37	CCDS12709.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159373	0.57368	.	.	ENSG00000105507	ENST00000293255	T	0.79554	-1.28	5.31	5.31	0.75309	.	0.289114	0.33515	N	0.004832	T	0.75428	0.3848	M	0.64630	1.985	0.32595	N	0.526639	P	0.49783	0.928	B	0.32465	0.146	D	0.85135	0.0977	10	0.87932	D	0	.	16.92	0.86161	0.0:1.0:0.0:0.0	.	173	Q9NP86	CABP5_HUMAN	H	173	ENSP00000293255:R173H	ENSP00000293255:R173H	R	-	2	0	CABP5	53225630	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	3.396000	0.52565	2.676000	0.91093	0.650000	0.86243	CGC		0.483	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465212.1	NM_019855	
ZNF816	125893	broad.mit.edu	37	19	53459334	53459334	+	Silent	SNP	A	A	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr19:53459334A>G	ENST00000357666.4	-	3	309	c.9T>C	c.(7-9)cgT>cgC	p.R3R	ZNF321P_ENST00000391777.3_Silent_p.R3R|ZNF816_ENST00000535506.1_Silent_p.R3R|ZNF816_ENST00000438970.2_Silent_p.R3R|CTD-2620I22.1_ENST00000600068.1_RNA|ZNF816_ENST00000391786.2_Silent_p.R3R|ZNF816_ENST00000434371.2_Silent_p.R3R|ZNF816_ENST00000270457.4_Silent_p.R3R|ZNF816_ENST00000444460.2_Silent_p.R3R	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	3					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.R3R(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TGGCTTCCTCACGTAACATGA	0.413																																					p.R3R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T9C	19						.						117.0	119.0	118.0					19																	53459334		2203	4300	6503	58151146	SO:0001819	synonymous_variant	125893	exon3			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.9T>C	19.37:g.53459334A>G			58151146	NM_001031665	A8K7H5|Q3KR39|Q659B3	Silent	SNP	ENST00000357666.4	37	CCDS33096.1																																																																																				0.413	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665	
MARCH2	51257	broad.mit.edu	37	19	8491498	8491499	+	Missense_Mutation	DNP	GT	GT	AG			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	GT	GT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr19:8491498_8491499GT>AG	ENST00000602117.1	+	3	637_638	c.182_183GT>AG	c.(181-183)gGT>gAG	p.G61E	RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000215555.2_Missense_Mutation_p.G61E|MARCH2_ENST00000381035.4_Missense_Mutation_p.G61E|MARCH2_ENST00000393944.1_Missense_Mutation_p.G61E			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	61					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G61>?(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						TCCAGTGATGGTCCTTTCTGCC	0.574																																					.												.	.	1	Complex(1)	large_intestine(1)	c.182_183AG	19						.																																			8397499	SO:0001583	missense	51257	exon3			AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28038	protein-coding gene	gene with protein product		613332	"""membrane-associated ring finger (C3HC4) 2"""			11042152, 14722266	Standard	NM_016496		Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		Exception_encountered	19.37:g.8491498_8491499delinsAG	ENSP00000471536:p.Gly61Glu		8397498	NM_001005416	A6NP10|Q5H785|Q8N5A3|Q96B78	Missense_Mutation	DNP	ENST00000602117.1	37	CCDS12202.1																																																																																				0.574	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460361.2	NM_016496	
MUC16	94025	broad.mit.edu	37	19	9072479	9072479	+	Silent	SNP	A	A	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr19:9072479A>G	ENST00000397910.4	-	3	15170	c.14967T>C	c.(14965-14967)ttT>ttC	p.F4989F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4991	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.F4989F(2)|p.F622F(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						GGTCCATGGTAAAAGTATCCT	0.473																																					p.F4989F												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.T14967C	19						.						170.0	150.0	156.0					19																	9072479		1934	4123	6057	8933479	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.14967T>C	19.37:g.9072479A>G			8933479	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ZNF266	10781	broad.mit.edu	37	19	9524298	9524298	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr19:9524298G>T	ENST00000592904.1	-	5	3379	c.1303C>A	c.(1303-1305)Ccc>Acc	p.P435T	ZNF266_ENST00000361151.1_Missense_Mutation_p.P435T|ZNF266_ENST00000588221.1_Missense_Mutation_p.P435T|ZNF266_ENST00000361451.2_Missense_Mutation_p.P435T|ZNF266_ENST00000590306.1_Missense_Mutation_p.P435T|ZNF266_ENST00000592292.1_Missense_Mutation_p.P435T|ZNF266_ENST00000588933.1_Missense_Mutation_p.P435T			Q14584	ZN266_HUMAN	zinc finger protein 266	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						CACTCAAAGGGCTTCTCTCCA	0.433																																					p.P435T												.	.	0			c.C1303A	19						.						66.0	64.0	65.0					19																	9524298		2203	4300	6503	9385298	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.1303C>A	19.37:g.9524298G>T	ENSP00000466714:p.Pro435Thr		9385298	NM_006631	A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472392	0.84533	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.16897	2.31;2.31	2.21	2.21	0.28008	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36690	0.0976	M	0.67700	2.07	0.33725	D	0.61747	D	0.76494	0.999	D	0.91635	0.999	T	0.52749	-0.8534	9	0.87932	D	0	.	10.4933	0.44762	0.0:0.0:1.0:0.0	.	435	Q14584	ZN266_HUMAN	T	435	ENSP00000354680:P435T;ENSP00000355047:P435T	ENSP00000355047:P435T	P	-	1	0	ZNF266	9385298	0.995000	0.38212	0.007000	0.13788	0.816000	0.46133	3.992000	0.56980	1.545000	0.49373	0.555000	0.69702	CCC		0.433	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1		
RPS11	6205	broad.mit.edu	37	19	50000787	50000790	+	Frame_Shift_Del	DEL	GCAC	GCAC	-			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	GCAC	GCAC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr19:50000787_50000790delGCAC	ENST00000270625.2	+	3	241_244	c.158_161delGCAC	c.(157-162)ggcaccfs	p.GT53fs	RPS11_ENST00000599561.1_Intron|SNORD35B_ENST00000363660.1_RNA|RPS11_ENST00000596873.1_Frame_Shift_Del_p.GT53fs|hsa-mir-150_ENST00000602157.1_5'Flank|RPS11_ENST00000594493.1_5'UTR	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	53					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 small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.G53fs*24(1)		kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		GCTATTGAGGGCACCTACATTGAC	0.525																																					p.53_54del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.158_161del	19						.																																			54692602	SO:0001589	frameshift_variant	6205	exon3			AB007152	CCDS12769.1	19q13.3	2011-08-03			ENSG00000142534	ENSG00000142534		"""S ribosomal proteins"""	10384	protein-coding gene	gene with protein product	"""40S ribosomal protein S11"""	180471				1577483, 9582194	Standard	NM_001015		Approved	S11	uc002pob.2	P62280		ENST00000270625.2:c.158_161delGCAC	19.37:g.50000787_50000790delGCAC	ENSP00000270625:p.Gly53fs		54692599	NM_001015	B2R4F5|P04643|Q498Y6|Q6IRY0	Frame_Shift_Del	DEL	ENST00000270625.2	37	CCDS12769.1																																																																																				0.525	RPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465288.1	NM_001015	
NLRP13	126204	broad.mit.edu	37	19	56407414	56407414	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr19:56407414A>G	ENST00000342929.3	-	11	3028	c.3029T>C	c.(3028-3030)cTg>cCg	p.L1010P	NLRP13_ENST00000588751.1_Missense_Mutation_p.L1010P	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	1010							ATP binding (GO:0005524)	p.L1010P(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)		CAGATTGACCAGGCTCTTACT	0.488																																					p.L1010P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3029C	19						.						142.0	138.0	139.0					19																	56407414		2203	4300	6503	61099226	SO:0001583	missense	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.3029T>C	19.37:g.56407414A>G	ENSP00000343891:p.Leu1010Pro		61099226	NM_176810	Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	A	12.35	1.911075	0.33721	.	.	ENSG00000173572	ENST00000342929	T	0.74106	-0.81	2.85	2.85	0.33270	.	.	.	.	.	D	0.87273	0.6136	M	0.92970	3.365	0.19300	N	0.999973	D	0.89917	1.0	D	0.97110	1.0	T	0.75434	-0.3319	9	0.87932	D	0	.	7.4184	0.27057	1.0:0.0:0.0:0.0	.	1010	Q86W25	NAL13_HUMAN	P	1010	ENSP00000343891:L1010P	ENSP00000343891:L1010P	L	-	2	0	NLRP13	61099226	0.428000	0.25522	0.006000	0.13384	0.011000	0.07611	3.733000	0.55029	1.327000	0.45338	0.482000	0.46254	CTG		0.488	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810	
NTNG1	22854	broad.mit.edu	37	1	107867468	107867468	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr1:107867468G>A	ENST00000370068.1	+	3	1657	c.811G>A	c.(811-813)Gtt>Att	p.V271I	NTNG1_ENST00000370074.4_Missense_Mutation_p.V271I|NTNG1_ENST00000370070.2_Missense_Mutation_p.V271I|NTNG1_ENST00000370065.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370073.2_Missense_Mutation_p.V271I|NTNG1_ENST00000542803.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370066.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370061.3_Missense_Mutation_p.V271I|NTNG1_ENST00000370067.1_Missense_Mutation_p.V271I|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370071.2_Missense_Mutation_p.V271I|NTNG1_ENST00000370072.3_Missense_Mutation_p.V271I			Q9Y2I2	NTNG1_HUMAN	netrin G1	271	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)		p.V271I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AAGACCAGCCGTTGGGGAAAT	0.458																																					p.V271I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G811A	1						.						54.0	56.0	56.0					1																	107867468		2203	4299	6502	107668991	SO:0001583	missense	22854	exon3			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.811G>A	1.37:g.107867468G>A	ENSP00000359085:p.Val271Ile		107668991	NM_001113228	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630818	0.28978	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370064;ENST00000370062;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	5.94	3.92	0.45320	Laminin, N-terminal (3);	0.336633	0.24492	N	0.038046	T	0.29850	0.0746	N	0.04508	-0.205	0.33178	D	0.549223	B;B;B;B;B	0.25772	0.001;0.134;0.007;0.021;0.076	B;B;B;B;B	0.28709	0.007;0.093;0.019;0.024;0.046	T	0.05435	-1.0885	10	0.40728	T	0.16	.	4.7071	0.12855	0.6449:0.0:0.3551:0.0	.	271;271;271;271;271	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-2;Q9Y2I2-1	.;NTNG1_HUMAN;.;.;.	I	271;271;271;271;271;271;271;271;32;32;271;271;271;271;271;271	ENSP00000359090:V271I;ENSP00000359088:V271I;ENSP00000440561:V271I;ENSP00000359078:V271I;ENSP00000359089:V271I;ENSP00000359087:V271I;ENSP00000359091:V271I;ENSP00000359085:V271I;ENSP00000359084:V271I;ENSP00000359083:V271I;ENSP00000359082:V271I	ENSP00000294649:V271I	V	+	1	0	NTNG1	107668991	1.000000	0.71417	0.787000	0.31911	0.994000	0.84299	7.637000	0.83313	0.752000	0.32923	0.655000	0.94253	GTT		0.458	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917	
PDPN	10630	broad.mit.edu	37	1	13910563	13910563	+	Missense_Mutation	SNP	G	G	A	rs140760055		TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr1:13910563G>A	ENST00000294489.6	+	1	604	c.263G>A	c.(262-264)gGa>gAa	p.G88E	PDPN_ENST00000487038.1_5'Flank|PDPN_ENST00000513143.1_5'Flank|PDPN_ENST00000509009.1_5'Flank|PDPN_ENST00000475043.1_5'Flank|PDPN_ENST00000376057.4_Missense_Mutation_p.G88E|PDPN_ENST00000376061.4_5'Flank					podoplanin											endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		TTCGTTTTGGGAAGCGCGTCG	0.577																																					p.G88E												.	.	0			c.G263A	1						.	G	GLU/GLY,GLU/GLY	0,4402		0,0,2201	44.0	34.0	37.0		263,263	4.9	0.9	1	dbSNP_134	37	1,8577		0,1,4288	no	missense,missense	PDPN	NM_006474.4,NM_198389.2	98,98	0,1,6489	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging,probably-damaging	88/239,88/237	13910563	1,12979	2201	4289	6490	13783150	SO:0001583	missense	10630	exon1			AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"""lung type I cell membrane associated glycoprotein"""	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000294489.6:c.263G>A	1.37:g.13910563G>A	ENSP00000294489:p.Gly88Glu		13783150	NM_006474		Missense_Mutation	SNP	ENST00000294489.6	37	CCDS30602.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966332	0.34659	0.0	1.17E-4	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906	T;T;T	0.57273	0.41;0.41;0.41	4.93	4.93	0.64822	.	0.069146	0.56097	D	0.000032	T	0.69833	0.3155	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73097	-0.4090	10	0.87932	D	0	-30.1638	14.0099	0.64490	0.0:0.0:1.0:0.0	.	88;88	Q86YL7-3;Q86YL7-4	.;.	E	88;88;79	ENSP00000294489:G88E;ENSP00000365225:G88E;ENSP00000426302:G79E	ENSP00000294489:G88E	G	+	2	0	PDPN	13783150	1.000000	0.71417	0.869000	0.34112	0.199000	0.23934	5.267000	0.65530	2.435000	0.82474	0.563000	0.77884	GGA		0.577	PDPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021783.2	NM_006474	
SYT6	148281	broad.mit.edu	37	1	114680442	114680442	+	Missense_Mutation	SNP	C	C	T	rs139165674	byFrequency	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr1:114680442C>T	ENST00000610222.1	-	3	892	c.746G>A	c.(745-747)cGt>cAt	p.R249H	SYT6_ENST00000607941.1_Missense_Mutation_p.R164H|SYT6_ENST00000393296.1_Missense_Mutation_p.R249H|SYT6_ENST00000369547.1_Missense_Mutation_p.R164H|SYT6_ENST00000609117.1_Missense_Mutation_p.R164H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	249	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.R164H(2)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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)		CTTCAGGATACGCACAATCAG	0.542													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		23094	0.0		0.001	False		,,,				2504	0.0				p.R164H												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G491A	1						.	C	HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	162.0	140.0	148.0		491	4.7	1.0	1	dbSNP_134	148	6,8594	5.0+/-18.6	0,6,4294	yes	missense	SYT6	NM_205848.2	29	0,10,6493	TT,TC,CC		0.0698,0.0908,0.0769	probably-damaging	164/426	114680442	10,12996	2203	4300	6503	114481965	SO:0001583	missense	148281	exon3				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.746G>A	1.37:g.114680442C>T	ENSP00000476396:p.Arg249His		114481965	NM_205848	B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.69	2.611532	0.46631	9.08E-4	6.98E-4	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.61	4.7	0.59300	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.222251	0.44285	D	0.000462	T	0.37293	0.0998	N	0.17838	0.53	0.44030	D	0.996757	B	0.32829	0.386	B	0.31869	0.137	T	0.40887	-0.9539	10	0.41790	T	0.15	.	14.7542	0.69552	0.0:0.9308:0.0:0.0692	.	249	Q5T7P8	SYT6_HUMAN	H	164;249;164;249	ENSP00000358560:R164H;ENSP00000376974:R249H;ENSP00000358559:R164H;ENSP00000358558:R249H	ENSP00000358558:R249H	R	-	2	0	SYT6	114481965	0.903000	0.30736	1.000000	0.80357	0.826000	0.46750	1.884000	0.39668	1.397000	0.46682	-0.119000	0.15052	CGT		0.542	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848	
PIAS3	10401	broad.mit.edu	37	1	145581217	145581218	+	Missense_Mutation	DNP	GT	GT	AC			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	GT	GT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr1:145581217_145581218GT>AC	ENST00000393045.2	+	8	1036_1037	c.946_947GT>AC	c.(946-948)GTg>ACg	p.V316T	PIAS3_ENST00000369298.1_Missense_Mutation_p.V281T	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	316					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)	p.V307>?(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGACAGTGAGGTGGCCACTACA	0.55																																					.												.	.	1	Complex(1)	large_intestine(1)	c.946_947AC	1						.																																			144292575	SO:0001583	missense	10401	exon8			AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	Exception_encountered	1.37:g.145581217_145581218delinsAC	ENSP00000376765:p.Val316Thr		144292574	NM_006099	Q9UFI3	Missense_Mutation	DNP	ENST00000393045.2	37	CCDS920.2																																																																																				0.550	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099	
ATP13A2	23400	broad.mit.edu	37	1	17314916	17314917	+	Missense_Mutation	DNP	GC	GC	AT	rs190323680		TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	GC	GC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr1:17314916_17314917GC>AT	ENST00000326735.8	-	24	2695_2696	c.2662_2663GC>AT	c.(2662-2664)GCg>ATg	p.A888M	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.A844M|ATP13A2_ENST00000452699.1_Missense_Mutation_p.A883M			Q9NQ11	AT132_HUMAN	ATPase type 13A2	888					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.A888>?(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GACATCAGCCGCCTTCAGGGCC	0.619																																					.												.	.	1	Complex(1)	large_intestine(1)	c.2662_2663AT	1						.																																			17187504	SO:0001583	missense	23400	exon24			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2662_2663delinsAT	1.37:g.17314916_17314917delinsAT	ENSP00000327214:p.Ala888Met		17187503	NM_022089	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	DNP	ENST00000326735.8	37	CCDS175.1																																																																																				0.619	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089	
OR10K2	391107	broad.mit.edu	37	1	158389918	158389918	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr1:158389918T>A	ENST00000314902.2	-	1	738	c.739A>T	c.(739-741)Att>Ttt	p.I247F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I247F(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					ACAGTGACAATAATGAGGTGA	0.448																																					p.I247F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A739T	1						.						138.0	134.0	135.0					1																	158389918		2203	4300	6503	156656542	SO:0001583	missense	391107	exon1			AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.739A>T	1.37:g.158389918T>A	ENSP00000324251:p.Ile247Phe		156656542	NM_001004476		Missense_Mutation	SNP	ENST00000314902.2	37	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	t	10.60	1.394368	0.25205	.	.	ENSG00000180708	ENST00000314902	T	0.00158	8.65	4.06	-1.92	0.07618	GPCR, rhodopsin-like superfamily (1);	0.376195	0.19124	N	0.122094	T	0.00039	0.0001	L	0.29908	0.895	0.09310	N	0.999996	P	0.44877	0.845	P	0.46076	0.503	T	0.23440	-1.0188	10	0.87932	D	0	.	5.0129	0.14321	0.1389:0.3749:0.0:0.4862	.	247	Q6IF99	O10K2_HUMAN	F	247	ENSP00000324251:I247F	ENSP00000324251:I247F	I	-	1	0	OR10K2	156656542	0.000000	0.05858	0.142000	0.22268	0.285000	0.27093	-0.218000	0.09240	-0.508000	0.06540	-0.465000	0.05216	ATT		0.448	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476	
PINK1	65018	broad.mit.edu	37	1	20975055	20975055	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr1:20975055T>A	ENST00000321556.4	+	6	1275	c.1181T>A	c.(1180-1182)aTc>aAc	p.I394N	PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	394	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.I394N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAGCATCGGCCTGCAG	0.612																																					p.I394N	Esophageal Squamous(145;853 1803 8146 34412 35011)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1181A	1						.						69.0	61.0	64.0					1																	20975055		2203	4300	6503	20847642	SO:0001583	missense	65018	exon6			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.1181T>A	1.37:g.20975055T>A	ENSP00000364204:p.Ile394Asn		20847642	NM_032409	Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	ENST00000321556.4	37	CCDS211.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.441834	0.43326	.	.	ENSG00000158828	ENST00000321556	T	0.73047	-0.71	6.17	5.05	0.67936	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.990010	0.08247	N	0.975232	T	0.53690	0.1812	N	0.11724	0.165	0.09310	N	1	B;P	0.37594	0.004;0.601	B;B	0.36845	0.005;0.234	T	0.39840	-0.9594	10	0.27785	T	0.31	-5.3405	9.2609	0.37612	0.0:0.0808:0.0:0.9192	.	87;394	Q9BXM7-2;Q9BXM7	.;PINK1_HUMAN	N	394	ENSP00000364204:I394N	ENSP00000364204:I394N	I	+	2	0	PINK1	20847642	0.098000	0.21812	0.032000	0.17829	0.943000	0.58893	2.474000	0.45154	1.147000	0.42369	0.533000	0.62120	ATC		0.612	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	NM_032409	
CACNA1E	777	broad.mit.edu	37	1	181480584	181480584	+	Silent	SNP	C	C	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr1:181480584C>T	ENST00000367573.2	+	3	450	c.450C>T	c.(448-450)ttC>ttT	p.F150F	CACNA1E_ENST00000526775.1_Silent_p.F150F|CACNA1E_ENST00000367570.1_Silent_p.F150F|CACNA1E_ENST00000360108.3_Silent_p.F150F|CACNA1E_ENST00000357570.5_Silent_p.F101F|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Silent_p.F101F	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	150					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.F150F(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						GGTTCATCTTCCATAAGGGCT	0.483																																					p.F150F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C450T	1						.						226.0	219.0	221.0					1																	181480584		1919	4136	6055	179747207	SO:0001819	synonymous_variant	777	exon3			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.450C>T	1.37:g.181480584C>T			179747207	NM_000721	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																				0.483	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
OBSCN	84033	broad.mit.edu	37	1	228479753	228479753	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr1:228479753G>T	ENST00000422127.1	+	39	10538	c.10494G>T	c.(10492-10494)caG>caT	p.Q3498H	OBSCN_ENST00000570156.2_Missense_Mutation_p.Q3927H|OBSCN_ENST00000359599.6_Missense_Mutation_p.Q2345H|OBSCN_ENST00000284548.11_Missense_Mutation_p.Q3498H|OBSCN_ENST00000366707.4_Missense_Mutation_p.Q617H|OBSCN_ENST00000366709.4_Missense_Mutation_p.Q617H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3498	Ig-like 35.				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)			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)				TCCTGAGGCAGGAGGGGACCA	0.627																																					p.Q3498H												.	.	0			c.G10494T	1						.						107.0	111.0	110.0					1																	228479753		2091	4199	6290	226546376	SO:0001583	missense	84033	exon39			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.10494G>T	1.37:g.228479753G>T	ENSP00000409493:p.Gln3498His		226546376	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	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782911	0.70222	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.1	2.15	0.27550	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.069200	0.64402	D	0.000017	T	0.80523	0.4639	M	0.89095	3.005	0.30686	N	0.751845	D;D	0.64830	0.992;0.994	D;D	0.87578	0.998;0.966	T	0.76296	-0.3011	10	0.45353	T	0.12	.	7.1242	0.25463	0.2752:0.1175:0.6073:0.0	.	3498;3498	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	H	3498;3498;617;617;2345	ENSP00000284548:Q3498H;ENSP00000409493:Q3498H;ENSP00000355668:Q617H;ENSP00000355670:Q617H;ENSP00000352613:Q2345H	ENSP00000284548:Q3498H	Q	+	3	2	OBSCN	226546376	0.985000	0.35326	0.989000	0.46669	0.692000	0.40212	2.078000	0.41567	0.730000	0.32425	0.511000	0.50034	CAG		0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
ACTN2	88	broad.mit.edu	37	1	236882221	236882221	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr1:236882221G>T	ENST00000366578.4	+	3	435	c.269G>T	c.(268-270)gGa>gTa	p.G90V	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.G90V	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	90	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCTGACCGGGGAAAAATGCGG	0.473																																					p.G90V												.	.	0			c.G269T	1						.						118.0	114.0	115.0					1																	236882221		2203	4300	6503	234948844	SO:0001583	missense	88	exon3			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.269G>T	1.37:g.236882221G>T	ENSP00000355537:p.Gly90Val		234948844	NM_001103	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.877356	0.91664	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	T;T	0.59638	0.25;0.25	5.56	5.56	0.83823	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.79209	0.4407	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.81488	-0.0910	10	0.87932	D	0	.	18.6602	0.91469	0.0:0.0:1.0:0.0	.	90;90	B2RCS5;P35609	.;ACTN2_HUMAN	V	90	ENSP00000443495:G90V;ENSP00000355537:G90V	ENSP00000355537:G90V	G	+	2	0	ACTN2	234948844	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	9.542000	0.98086	2.775000	0.95449	0.655000	0.94253	GGA		0.473	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103	
RYR2	6262	broad.mit.edu	37	1	237843805	237843805	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr1:237843805T>G	ENST00000366574.2	+	62	9262	c.8945T>G	c.(8944-8946)tTc>tGc	p.F2982C	RYR2_ENST00000542537.1_Missense_Mutation_p.F2966C|RYR2_ENST00000360064.6_Missense_Mutation_p.F2980C|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2982					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.F2980C(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)			CGTTTATACTTCTTATCTGCA	0.388																																					p.F2982C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.T8945G	1						.						134.0	113.0	119.0					1																	237843805		1848	4103	5951	235910428	SO:0001583	missense	6262	exon62			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.8945T>G	1.37:g.237843805T>G	ENSP00000355533:p.Phe2982Cys		235910428	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424807	0.83667	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;D;D	0.98666	-0.19;-5.04;-5.06	5.6	5.6	0.85130	.	0.000000	0.64402	U	0.000006	D	0.99146	0.9705	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.99581	1.0973	10	0.87932	D	0	.	15.8023	0.78463	0.0:0.0:0.0:1.0	.	2982	Q92736	RYR2_HUMAN	C	2982;2980;2966	ENSP00000355533:F2982C;ENSP00000353174:F2980C;ENSP00000443798:F2966C	ENSP00000353174:F2980C	F	+	2	0	RYR2	235910428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.137000	0.66172	0.533000	0.62120	TTC		0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
NPHP4	261734	broad.mit.edu	37	1	5993329	5993329	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr1:5993329A>T	ENST00000378156.4	-	10	1445	c.1180T>A	c.(1180-1182)Tgg>Agg	p.W394R	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	394					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)			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)		AAGGGGTTCCAAACAGCCCAG	0.552																																					p.W394R												.	.	0			c.T1180A	1						.						51.0	56.0	55.0					1																	5993329		2016	4182	6198	5915916	SO:0001583	missense	261734	exon10			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.1180T>A	1.37:g.5993329A>T	ENSP00000367398:p.Trp394Arg		5915916	NM_015102	Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.742452	0.69418	.	.	ENSG00000131697	ENST00000378156	D	0.94232	-3.38	4.61	4.61	0.57282	.	0.000000	0.64402	D	0.000007	D	0.95996	0.8696	M	0.74258	2.255	0.45452	D	0.998424	D	0.89917	1.0	D	0.91635	0.999	D	0.96279	0.9205	10	0.87932	D	0	.	12.2393	0.54534	1.0:0.0:0.0:0.0	.	394	O75161	NPHP4_HUMAN	R	394	ENSP00000367398:W394R	ENSP00000367398:W394R	W	-	1	0	NPHP4	5915916	0.998000	0.40836	0.883000	0.34634	0.919000	0.55068	5.182000	0.65059	1.838000	0.53458	0.533000	0.62120	TGG		0.552	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2		
TAS1R1	80835	broad.mit.edu	37	1	6636538	6636538	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr1:6636538A>C	ENST00000333172.6	+	4	1517	c.1324A>C	c.(1324-1326)Aac>Cac	p.N442H	TAS1R1_ENST00000328191.4_Intron|TAS1R1_ENST00000351136.3_Missense_Mutation_p.N188H	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	442					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.N442H(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)		GTTTAATGACAACAGAGATCC	0.493																																					p.N188H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A562C	1						.						174.0	164.0	167.0					1																	6636538		2203	4300	6503	6559125	SO:0001583	missense	80835	exon3				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.1324A>C	1.37:g.6636538A>C	ENSP00000331867:p.Asn442His		6559125	NM_177540	B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	CCDS81.1	.	.	.	.	.	.	.	.	.	.	A	11.03	1.518129	0.27211	.	.	ENSG00000173662	ENST00000333172;ENST00000437392;ENST00000351136	D;T	0.84944	-1.92;-1.14	4.9	1.11	0.20524	Extracellular ligand-binding receptor (1);	0.439125	0.26496	N	0.024059	D	0.88351	0.6413	M	0.75264	2.295	0.09310	N	1	B;D;D	0.56287	0.4;0.967;0.975	B;P;D	0.63488	0.075;0.693;0.915	T	0.78427	-0.2208	10	0.54805	T	0.06	.	5.2136	0.15331	0.6146:0.1404:0.2451:0.0	.	188;188;442	Q7RTX1-4;Q7RTX1-2;Q7RTX1	.;.;TS1R1_HUMAN	H	442;110;188	ENSP00000331867:N442H;ENSP00000312558:N188H	ENSP00000331867:N442H	N	+	1	0	TAS1R1	6559125	0.001000	0.12720	0.015000	0.15790	0.075000	0.17131	0.765000	0.26546	0.201000	0.20466	0.482000	0.46254	AAC		0.493	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1		
TRIM63	84676	broad.mit.edu	37	1	26387815	26387815	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr1:26387815G>T	ENST00000374272.3	-	3	481	c.343C>A	c.(343-345)Cag>Aag	p.Q115K	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	115	Interaction with TTN.				cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q115K(1)		kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(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;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCCTTCTGCAGCGGCCGA	0.577																																					p.Q115K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C343A	1						.						101.0	77.0	85.0					1																	26387815		2203	4300	6503	26260402	SO:0001583	missense	84676	exon3			AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	16007	protein-coding gene	gene with protein product	"""muscle-specific RING finger protein 1"", ""iris ring finger protein"", ""striated muscle RING zinc finger protein"""	606131	"""ring finger protein 28"", ""tripartite motif-containing 63"", ""tripartite motif containing 63"""	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.343C>A	1.37:g.26387815G>T	ENSP00000363390:p.Gln115Lys		26260402	NM_032588	B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Missense_Mutation	SNP	ENST00000374272.3	37	CCDS273.1	.	.	.	.	.	.	.	.	.	.	G	4.470	0.087078	0.08583	.	.	ENSG00000158022	ENST00000374272	T	0.40225	1.04	5.33	4.41	0.53225	Zinc finger, RING/FYVE/PHD-type (1);	0.094270	0.64402	N	0.000001	T	0.12561	0.0305	N	0.00707	-1.245	0.29996	N	0.81642	B	0.02656	0.0	B	0.04013	0.001	T	0.17837	-1.0356	10	0.02654	T	1	.	12.6674	0.56849	0.0:0.0:0.5587:0.4413	.	115	Q969Q1	TRI63_HUMAN	K	115	ENSP00000363390:Q115K	ENSP00000363390:Q115K	Q	-	1	0	TRIM63	26260402	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.033000	0.49743	1.370000	0.46153	0.591000	0.81541	CAG		0.577	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019750.1	NM_032588	
KIAA0319L	79932	broad.mit.edu	37	1	35925908	35925908	+	Silent	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr1:35925908G>A	ENST00000325722.3	-	9	1659	c.1425C>T	c.(1423-1425)ttC>ttT	p.F475F	KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	475	PKD 2. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.F475F(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)				TAATTTACCTGAAAGTGTAGT	0.368																																					p.F475F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1425T	1						.						115.0	117.0	116.0					1																	35925908		2203	4300	6503	35698495	SO:0001819	synonymous_variant	79932	exon9			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.1425C>T	1.37:g.35925908G>A			35698495	NM_024874	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Silent	SNP	ENST00000325722.3	37	CCDS390.1																																																																																				0.368	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874	
CEP170	9859	broad.mit.edu	37	1	243354422	243354422	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr1:243354422A>G	ENST00000366542.1	-	8	1057	c.1006T>C	c.(1006-1008)Tgg>Cgg	p.W336R	CEP170_ENST00000366543.1_Missense_Mutation_p.W336R|CEP170_ENST00000366544.1_Missense_Mutation_p.W336R	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	336						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.W336R(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGTGCTAGCCAGTCAGCAACT	0.433																																					p.W336R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1006C	1						.						93.0	79.0	84.0					1																	243354422		1866	4107	5973	241421045	SO:0001583	missense	9859	exon8			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1006T>C	1.37:g.243354422A>G	ENSP00000355500:p.Trp336Arg		241421045	NM_001042405	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.599977	0.66332	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081	T;T;T	0.78816	-1.21;-1.04;-1.03	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.86793	0.6018	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.88099	0.2818	10	0.62326	D	0.03	-4.93	14.5724	0.68220	1.0:0.0:0.0:0.0	.	336;336;336	Q5SW79-3;Q5SW79-2;Q5SW79	.;.;CE170_HUMAN	R	336;336;336;234	ENSP00000355500:W336R;ENSP00000355502:W336R;ENSP00000355501:W336R	ENSP00000355500:W336R	W	-	1	0	CEP170	241421045	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	8.958000	0.93099	1.853000	0.53794	0.374000	0.22700	TGG		0.433	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812	
CEP250	11190	broad.mit.edu	37	20	34081386	34081386	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr20:34081386A>T	ENST00000397527.1	+	23	3740	c.3020A>T	c.(3019-3021)gAc>gTc	p.D1007V	RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA|RP3-477O4.14_ENST00000444933.1_RNA|CEP250_ENST00000342580.4_Missense_Mutation_p.D951V	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1007	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)			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)			GATAAGATGGACCTGCAGAAG	0.607																																					p.D1007V												.	.	0			c.A3020T	20						.						24.0	27.0	26.0					20																	34081386		2203	4300	6503	33544800	SO:0001583	missense	11190	exon23			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.3020A>T	20.37:g.34081386A>T	ENSP00000380661:p.Asp1007Val		33544800	NM_007186	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.606302	0.28623	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.11063	2.81;2.82	3.66	2.51	0.30379	.	0.560338	0.14637	U	0.307472	T	0.14270	0.0345	M	0.73962	2.25	0.26696	N	0.971254	B	0.26845	0.161	B	0.32928	0.155	T	0.10337	-1.0634	10	0.33141	T	0.24	.	6.8642	0.24084	0.8823:0.0:0.1177:0.0	.	1007	Q9BV73	CP250_HUMAN	V	1007;951	ENSP00000380661:D1007V;ENSP00000341541:D951V	ENSP00000341541:D951V	D	+	2	0	CEP250	33544800	0.431000	0.25546	0.865000	0.33974	0.651000	0.38670	2.029000	0.41098	1.533000	0.49186	0.147000	0.16070	GAC		0.607	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186	
MANBAL	63905	broad.mit.edu	37	20	35944720	35944721	+	Missense_Mutation	DNP	CC	CC	GG	rs148631352		TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	CC	CC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr20:35944720_35944721CC>GG	ENST00000373605.3	+	4	972_973	c.160_161CC>GG	c.(160-162)CCg>GGg	p.P54G	MANBAL_ENST00000397152.3_Missense_Mutation_p.P54G|MANBAL_ENST00000397151.1_Missense_Mutation_p.P54G|MANBAL_ENST00000397156.3_Missense_Mutation_p.P54G|MANBAL_ENST00000397150.1_3'UTR|MANBAL_ENST00000373606.3_Missense_Mutation_p.P54G			Q9NQG1	MANBL_HUMAN	mannosidase, beta A, lysosomal-like	54						integral component of membrane (GO:0016021)		p.P54>?(1)		large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(115;0.00878)				GGAGGCTGAACCGTCTGAGCCC	0.51																																					.												.	.	1	Complex(1)	large_intestine(1)	c.160_161GG	20						.																																			35378135	SO:0001583	missense	63905	exon3				CCDS13293.1	20q11.23	2013-09-20			ENSG00000101363	ENSG00000101363			15799	protein-coding gene	gene with protein product							Standard	NM_022077		Approved	dJ1141E15.2	uc002xgv.3	Q9NQG1	OTTHUMG00000032414	Exception_encountered	20.37:g.35944720_35944721delinsGG	ENSP00000362707:p.Pro54Gly		35378134	NM_001003897	A8KAA6|E1P5V3	Missense_Mutation	DNP	ENST00000373605.3	37	CCDS13293.1																																																																																				0.510	MANBAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079096.2	NM_022077	
WFDC8	90199	broad.mit.edu	37	20	44184492	44184492	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr20:44184492G>A	ENST00000357199.4	-	4	371	c.293C>T	c.(292-294)cCt>cTt	p.P98L	WFDC8_ENST00000289953.2_Missense_Mutation_p.P98L	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	98	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P98L(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)				ATGCCTCACAGGTAGCATGCA	0.458																																					p.P98L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C293T	20						.						92.0	84.0	87.0					20																	44184492		2203	4300	6503	43617906	SO:0001583	missense	90199	exon4			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.293C>T	20.37:g.44184492G>A	ENSP00000361735:p.Pro98Leu		43617906	NM_130896	E1P623|Q5TDV2|Q96A34	Missense_Mutation	SNP	ENST00000357199.4	37	CCDS13361.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.297234	0.23650	.	.	ENSG00000158901	ENST00000357199;ENST00000289953	T;T	0.62364	0.03;0.03	4.26	3.28	0.37604	Proteinase inhibitor I2, Kunitz metazoa (6);	0.816116	0.10768	N	0.636374	T	0.71829	0.3386	M	0.85859	2.78	0.18873	N	0.999981	P	0.40931	0.733	P	0.46758	0.526	T	0.63629	-0.6594	10	0.87932	D	0	.	9.4544	0.38745	0.0:0.0:0.7891:0.2109	.	98	Q8IUA0	WFDC8_HUMAN	L	98	ENSP00000361735:P98L;ENSP00000289953:P98L	ENSP00000289953:P98L	P	-	2	0	WFDC8	43617906	0.002000	0.14202	0.003000	0.11579	0.005000	0.04900	1.076000	0.30729	1.327000	0.45338	0.655000	0.94253	CCT		0.458	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1		
SLC2A10	81031	broad.mit.edu	37	20	45354735	45354736	+	Missense_Mutation	DNP	CC	CC	GT			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	CC	CC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr20:45354735_45354736CC>GT	ENST00000359271.2	+	2	1310_1311	c.1060_1061CC>GT	c.(1060-1062)CCt>GTt	p.P354V		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	354					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)	p.P354>?(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CTCCTCTCTACCTCCCATTCCA	0.604																																					.												.	.	1	Complex(1)	large_intestine(1)	c.1060_1061GT	20						.																																			44788143	SO:0001583	missense	81031	exon2			AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	Exception_encountered	20.37:g.45354735_45354736delinsGT	ENSP00000352216:p.Pro354Val		44788142	NM_030777	A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	DNP	ENST00000359271.2	37	CCDS13402.1																																																																																				0.604	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2		
SYCP2	10388	broad.mit.edu	37	20	58449055	58449055	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr20:58449055T>C	ENST00000357552.3	-	35	3636	c.3411A>G	c.(3409-3411)atA>atG	p.I1137M	SYCP2_ENST00000371001.2_Missense_Mutation_p.I1137M			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1137					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.I1137M(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)			GATAAGGTGATATAGATTTTG	0.308																																					p.I1137M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3411G	20						.						129.0	118.0	122.0					20																	58449055		2202	4300	6502	57882450	SO:0001583	missense	10388	exon34			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.3411A>G	20.37:g.58449055T>C	ENSP00000350162:p.Ile1137Met		57882450	NM_014258	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	T	8.788	0.929971	0.18131	.	.	ENSG00000196074	ENST00000371001;ENST00000357552	T;T	0.15603	2.41;2.41	4.88	1.14	0.20703	.	1.538360	0.03550	N	0.225341	T	0.09468	0.0233	N	0.08118	0	0.25583	N	0.986776	B	0.27791	0.189	B	0.30179	0.112	T	0.26883	-1.0090	10	0.46703	T	0.11	-0.037	1.985	0.03434	0.1658:0.0907:0.1607:0.5828	.	1137	Q9BX26	SYCP2_HUMAN	M	1137	ENSP00000360040:I1137M;ENSP00000350162:I1137M	ENSP00000350162:I1137M	I	-	3	3	SYCP2	57882450	0.507000	0.26146	0.541000	0.28102	0.441000	0.31987	-0.040000	0.12104	-0.009000	0.14296	0.460000	0.39030	ATA		0.308	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	
DIDO1	11083	broad.mit.edu	37	20	61525363	61525364	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	GC	GC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr20:61525363_61525364GC>AT	ENST00000266070.4	-	12	3080_3081	c.2755_2756GC>AT	c.(2755-2757)GCt>ATt	p.A919I	DIDO1_ENST00000395343.1_Missense_Mutation_p.A919I|DIDO1_ENST00000395340.1_Missense_Mutation_p.A919I|DIDO1_ENST00000395335.2_Missense_Mutation_p.A919I	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	919					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A919>?(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGATGAGAAGCACTTTCTAGG	0.599																																					.	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											.	.	1	Complex(1)	large_intestine(1)	c.2755_2756AT	20						.																																			60995809	SO:0001583	missense	11083	exon12			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2755_2756delinsAT	20.37:g.61525363_61525364delinsAT	ENSP00000266070:p.Ala919Ile		60995808	NM_001193370	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	DNP	ENST00000266070.4	37	CCDS33506.1																																																																																				0.599	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
NCAM2	4685	broad.mit.edu	37	21	22710843	22710843	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr21:22710843G>A	ENST00000400546.1	+	8	1282	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	NCAM2_ENST00000284894.7_Missense_Mutation_p.E203K|NCAM2_ENST00000535285.1_Missense_Mutation_p.E370K	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	345	Ig-like C2-type 4.				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.E345K(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)		CACGTTCACTGAAGGCGATAA	0.383																																					p.E345K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1033A	21						.						58.0	54.0	56.0					21																	22710843		1916	4117	6033	21632714	SO:0001583	missense	4685	exon8				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.1033G>A	21.37:g.22710843G>A	ENSP00000383392:p.Glu345Lys		21632714	NM_004540	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821899	0.90873	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.68025	-0.3;-0.3;-0.3	5.76	5.76	0.90799	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.090803	0.85682	D	0.000000	T	0.65709	0.2717	L	0.39467	1.215	0.47737	D	0.999507	B;P;P	0.37985	0.327;0.613;0.613	B;B;B	0.42653	0.13;0.394;0.168	T	0.64672	-0.6352	10	0.44086	T	0.13	-30.894	18.5946	0.91226	0.0:0.0:1.0:0.0	.	370;203;345	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	K	345;203;370	ENSP00000383392:E345K;ENSP00000284894:E203K;ENSP00000441887:E370K	ENSP00000284894:E203K	E	+	1	0	NCAM2	21632714	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.044000	0.64214	2.732000	0.93576	0.586000	0.80456	GAA		0.383	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540	
PCNT	5116	broad.mit.edu	37	21	47786602	47786602	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr21:47786602C>T	ENST00000359568.5	+	15	2820	c.2713C>T	c.(2713-2715)Cag>Tag	p.Q905*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	905					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)				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)					GCAGCTCCTCCAGGAGAGACA	0.597																																					p.Q905X												.	.	0			c.C2713T	21						.						41.0	43.0	42.0					21																	47786602		2202	4300	6502	46611030	SO:0001587	stop_gained	5116	exon15			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.2713C>T	21.37:g.47786602C>T	ENSP00000352572:p.Gln905*		46611030	NM_006031	O43152|Q7Z7C9	Nonsense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	37	6.064237	0.97251	.	.	ENSG00000160299	ENST00000359568	.	.	.	5.62	4.71	0.59529	.	0.576691	0.13226	N	0.403981	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	14.1755	0.65539	0.0:0.7291:0.2709:0.0	.	.	.	.	X	905	.	ENSP00000352572:Q905X	Q	+	1	0	PCNT	46611030	0.569000	0.26643	0.007000	0.13788	0.015000	0.08874	0.728000	0.26013	2.657000	0.90304	0.561000	0.74099	CAG		0.597	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031	
APOBEC3D	140564	broad.mit.edu	37	22	39427875	39427875	+	Silent	SNP	C	C	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr22:39427875C>T	ENST00000216099.8	+	6	1346	c.939C>T	c.(937-939)acC>acT	p.T313T	APOBEC3D_ENST00000381568.4_Silent_p.T313T|APOBEC3D_ENST00000427494.2_Silent_p.T129T	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	313					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|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)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)	p.T313T(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TGAATCTCACCATCTTCACCG	0.587																																					p.T313T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C939T	22						.						69.0	69.0	69.0					22																	39427875		1568	3582	5150	37757821	SO:0001819	synonymous_variant	140564	exon6			BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"""Apolipoprotein B mRNA editing enzymes"""	17354	protein-coding gene	gene with protein product		609900	"""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)"", ""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"""	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.939C>T	22.37:g.39427875C>T			37757821	NM_152426	Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Silent	SNP	ENST00000216099.8	37	CCDS46709.1																																																																																				0.587	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426	
SREBF2	6721	broad.mit.edu	37	22	42290878	42290878	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr22:42290878C>A	ENST00000361204.4	+	13	2598	c.2432C>A	c.(2431-2433)gCt>gAt	p.A811D	SREBF2_ENST00000491541.1_3'UTR	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	811					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTGGAGCGAGCTATAGAGTCC	0.547																																					p.A811D												.	.	0			c.C2432A	22						.						90.0	92.0	92.0					22																	42290878		2203	4300	6503	40620824	SO:0001583	missense	6721	exon13			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.2432C>A	22.37:g.42290878C>A	ENSP00000354476:p.Ala811Asp		40620824	NM_004599	Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263621	0.95399	.	.	ENSG00000198911	ENST00000361204;ENST00000457567	T	0.15487	2.42	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.41251	-0.9519	10	0.87932	D	0	-16.5159	20.422	0.99049	0.0:1.0:0.0:0.0	.	811	Q12772	SRBP2_HUMAN	D	811	ENSP00000354476:A811D	ENSP00000354476:A811D	A	+	2	0	SREBF2	40620824	1.000000	0.71417	0.952000	0.39060	0.991000	0.79684	6.873000	0.75541	2.832000	0.97577	0.655000	0.94253	GCT		0.547	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599	
LONRF2	164832	broad.mit.edu	37	2	100911951	100911951	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr2:100911951G>A	ENST00000393437.3	-	8	2180	c.1541C>T	c.(1540-1542)cCg>cTg	p.P514L	LONRF2_ENST00000409647.1_Missense_Mutation_p.P271L	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	514							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.P514L(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						CAATTCATCCGGCAAATATCG	0.343																																					p.P514L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1541T	2						.						131.0	128.0	129.0					2																	100911951		2203	4300	6503	100278383	SO:0001583	missense	164832	exon8			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.1541C>T	2.37:g.100911951G>A	ENSP00000377086:p.Pro514Leu		100278383	NM_198461	B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667720	0.47677	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.87887	-2.14;-2.31	4.25	3.34	0.38264	.	0.538685	0.18263	N	0.146568	D	0.89515	0.6737	L	0.58510	1.815	0.23940	N	0.996406	D	0.65815	0.995	P	0.55667	0.781	T	0.82744	-0.0306	10	0.87932	D	0	-0.536	13.433	0.61066	0.0:0.0:0.8418:0.1582	.	514	Q1L5Z9	LONF2_HUMAN	L	514;271	ENSP00000377086:P514L;ENSP00000386823:P271L	ENSP00000377086:P514L	P	-	2	0	LONRF2	100278383	0.541000	0.26417	0.009000	0.14445	0.441000	0.31987	3.934000	0.56553	0.838000	0.34948	0.655000	0.94253	CCG		0.343	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461	
FOXD4L1	200350	broad.mit.edu	37	2	114257534	114257534	+	Missense_Mutation	SNP	C	C	G	rs543797590	byFrequency	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr2:114257534C>G	ENST00000306507.5	+	1	874	c.701C>G	c.(700-702)cCt>cGt	p.P234R		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	234	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P234R(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CGCCCAGGCCCTCTGCTTGGG	0.716													.|||	85	0.0169728	0.003	0.0101	5008	,	,		8691	0.0615		0.005	False		,,,				2504	0.0072				p.P234R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C701G	2						.						18.0	31.0	27.0					2																	114257534		1321	2557	3878	113974004	SO:0001583	missense	200350	exon1			AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.701C>G	2.37:g.114257534C>G	ENSP00000302756:p.Pro234Arg		113974004	NM_012184	B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	CCDS2117.1	.	.	.	.	.	.	.	.	.	.	.	7.377	0.628018	0.14257	.	.	ENSG00000184492	ENST00000306507	D	0.95205	-3.64	2.57	1.38	0.22167	.	.	.	.	.	D	0.85031	0.5604	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.72265	-0.4344	9	0.24483	T	0.36	.	4.4252	0.11500	0.0:0.3307:0.0:0.6693	.	234	Q9NU39	FX4L1_HUMAN	R	234	ENSP00000302756:P234R	ENSP00000302756:P234R	P	+	2	0	FOXD4L1	113974004	0.000000	0.05858	0.004000	0.12327	0.220000	0.24768	-0.045000	0.12003	0.249000	0.21456	0.184000	0.17185	CCT		0.716	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184	
ERCC3	2071	broad.mit.edu	37	2	128051235	128051236	+	Missense_Mutation	DNP	GG	GG	CA			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	GG	GG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr2:128051235_128051236GG>CA	ENST00000285398.2	-	2	181_182	c.87_88CC>TG	c.(85-90)gcCCcg>gcTGcg	p.P30A	ERCC3_ENST00000493187.2_5'UTR	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	30					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|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)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)	p.A29>?(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCGTTCCCCGGGGCGTCCTCTT	0.559			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												.		yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""		E	.	.	1	Complex(1)	large_intestine(1)	c.87_88TG	2						.																																			127767706	SO:0001583	missense	2071	exon2	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.87_88delinsCA	2.37:g.128051235_128051236delinsCA	ENSP00000285398:p.Pro30Ala		127767705	NM_000122	Q53QM0	Missense_Mutation	DNP	ENST00000285398.2	37	CCDS2144.1																																																																																				0.559	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122	
SMPD4	55627	broad.mit.edu	37	2	130930424	130930424	+	Silent	SNP	A	A	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr2:130930424A>G	ENST00000409031.1	-	6	1655	c.507T>C	c.(505-507)agT>agC	p.S169S	SMPD4_ENST00000351288.6_Silent_p.S169S|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000339679.7_Silent_p.S56S|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000431183.2_Silent_p.S96S	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	130					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)	p.S169S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GGTACAGAGGACTGTCAGGGA	0.602																																					p.S169S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T507C	2						.						28.0	28.0	28.0					2																	130930424		2203	4296	6499	130646894	SO:0001819	synonymous_variant	55627	exon6			AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.507T>C	2.37:g.130930424A>G			130646894	NM_017951	B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Silent	SNP	ENST00000409031.1	37	CCDS42751.1																																																																																				0.602	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751	
LRP1B	53353	broad.mit.edu	37	2	141751586	141751586	+	Silent	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr2:141751586G>A	ENST00000389484.3	-	16	3593	c.2622C>T	c.(2620-2622)agC>agT	p.S874S	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	874	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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.S874S(2)		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)		AATCCTCATCGCTTCCGTCTA	0.428										TSP Lung(27;0.18)																											p.S874S	Colon(99;50 2074 2507 20106)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2622T	2						.						127.0	121.0	123.0					2																	141751586		2203	4300	6503	141468056	SO:0001819	synonymous_variant	53353	exon16			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.2622C>T	2.37:g.141751586G>A			141468056	NM_018557	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																				0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
GCG	2641	broad.mit.edu	37	2	163003973	163003973	+	Silent	SNP	G	G	A	rs200220805		TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr2:163003973G>A	ENST00000418842.2	-	3	398	c.144C>T	c.(142-144)aaC>aaT	p.N48N	GCG_ENST00000375497.3_Silent_p.N48N	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	48					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.N48N(2)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						GCTTGTCCTCGTTCATCTGAT	0.478													A|||	1	0.000199681	0.0	0.0	5008	,	,		17793	0.0		0.001	False		,,,				2504	0.0				p.N48N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C144T	2						.	A		0,4104		0,0,2052	278.0	276.0	276.0		144	-1.3	0.0	2		276	1,8399		0,1,4199	no	coding-synonymous	GCG	NM_002054.3		0,1,6251	AA,AG,GG		0.0119,0.0,0.0080		48/181	163003973	1,12503	2052	4200	6252	162712219	SO:0001819	synonymous_variant	2641	exon3				CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"""Endogenous ligands"""	4191	protein-coding gene	gene with protein product	"""glicentin-related polypeptide"", ""glucagon-like peptide 1"", ""glucagon-like peptide 2"", ""preproglucagon"""	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.144C>T	2.37:g.163003973G>A			162712219	NM_002054	A6NN65|Q53TP6	Silent	SNP	ENST00000418842.2	37	CCDS46439.1																																																																																				0.478	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332860.1	NM_002054	
ITGA6	3655	broad.mit.edu	37	2	173352085	173352085	+	Silent	SNP	C	C	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr2:173352085C>T	ENST00000264106.6	+	16	2384	c.2181C>T	c.(2179-2181)ccC>ccT	p.P727P	ITGA6_ENST00000409080.1_Silent_p.P688P|ITGA6_ENST00000264107.7_Silent_p.P688P|ITGA6_ENST00000343713.4_Silent_p.P683P|ITGA6_ENST00000375221.2_Silent_p.P727P|ITGA6_ENST00000409532.1_Silent_p.P569P|AC093818.1_ENST00000442417.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6	727					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.P688P(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)			CAAGGAATCCCACAAAAGATG	0.408																																					p.P688P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2064T	2						.						74.0	76.0	75.0					2																	173352085		2203	4300	6503	173060331	SO:0001819	synonymous_variant	3655	exon15				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.2181C>T	2.37:g.173352085C>T			173060331	NM_000210	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	ENST00000264106.6	37																																																																																					0.408	ITGA6-201	KNOWN	basic	protein_coding	protein_coding			
TTN	7273	broad.mit.edu	37	2	179475788	179475788	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr2:179475788C>A	ENST00000591111.1	-	220	46369	c.46145G>T	c.(46144-46146)gGa>gTa	p.G15382V	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G8150V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G17023V|TTN_ENST00000342992.6_Missense_Mutation_p.G14455V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G8083V|TTN_ENST00000460472.2_Missense_Mutation_p.G7958V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15382	Ig-like 97.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTATAAATTCCGGCATCTGC	0.398																																					p.G7958V												.	.	0			c.G23873T	2						.						173.0	165.0	168.0					2																	179475788		1897	4115	6012	179184033	SO:0001583	missense	7273	exon98			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.46145G>T	2.37:g.179475788C>A	ENSP00000465570:p.Gly15382Val		179184033	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	10.13	1.266250	0.23136	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.65	5.65	0.86999	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);	.	.	.	.	D	0.93229	0.7843	H	0.97896	4.1	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	0.95062	0.8196	9	0.87932	D	0	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	7958;8083;8150;15382	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	14455;7958;8150;8083;7958	ENSP00000343764:G14455V;ENSP00000434586:G7958V;ENSP00000340554:G8150V;ENSP00000352154:G8083V	ENSP00000340554:G8150V	G	-	2	0	TTN	179184033	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	7.729000	0.84864	2.824000	0.97209	0.655000	0.94253	GGA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CPS1	1373	broad.mit.edu	37	2	211502425	211502426	+	Splice_Site	DNP	GT	GT	AG			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	GT	GT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr2:211502425_211502426GT>AG	ENST00000233072.5	+	22	2883_2884	c.2687_2688GT>AG	c.(2686-2688)aGT>aAG	p.S896K	CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000430249.2_Splice_Site_p.S902K|CPS1_ENST00000451903.2_Splice_Site_p.S445K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	896					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.?(3)		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)	TTAAATCCTAGTGAGTCCATGA	0.411																																					.												.	.	3	Unknown(3)	lung(2)|large_intestine(1)	c.1335_1335AG	2						.																																			211210671	SO:0001630	splice_region_variant	1373	exon12			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	Exception_encountered	2.37:g.211502425_211502426delinsAG			211210670	NM_001122634	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Splice_Site	DNP	ENST00000233072.5	37	CCDS2393.1																																																																																				0.411	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		Missense_Mutation
ATAD2B	54454	broad.mit.edu	37	2	24108626	24108626	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr2:24108626G>A	ENST00000238789.5	-	5	989	c.646C>T	c.(646-648)Cga>Tga	p.R216*		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	216						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)	p.R216*(1)		central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCGAAGTCGTTCTACTTCT	0.353																																					p.R216X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C646T	2						.						123.0	115.0	117.0					2																	24108626		1886	4110	5996	23962130	SO:0001587	stop_gained	54454	exon5			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.646C>T	2.37:g.24108626G>A	ENSP00000238789:p.Arg216*		23962130	NM_017552	B9ZVQ5|Q6ZNA6|Q8N9E7	Nonsense_Mutation	SNP	ENST00000238789.5	37	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	G	37	6.333658	0.97480	.	.	ENSG00000119778	ENST00000238789;ENST00000442596;ENST00000439915	.	.	.	4.94	0.279	0.15677	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	13.2269	0.59919	0.0:0.0:0.4629:0.5371	.	.	.	.	X	216;54;216	.	ENSP00000238789:R216X	R	-	1	2	ATAD2B	23962130	0.993000	0.37304	0.998000	0.56505	0.991000	0.79684	1.292000	0.33342	0.128000	0.18479	0.579000	0.79373	CGA		0.353	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552	
HEATR5B	54497	broad.mit.edu	37	2	37247894	37247895	+	Missense_Mutation	DNP	AG	AG	CA			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	AG	AG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr2:37247894_37247895AG>CA	ENST00000233099.5	-	25	4033_4034	c.3938_3939CT>TG	c.(3937-3939)gCT>gTG	p.A1313V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A1313V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1313						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.A1313>?(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CCTGGAGCCCAGCCATTCGCAG	0.46																																					.												.	.	1	Complex(1)	large_intestine(1)	c.3938_3939TG	2						.																																			37101399	SO:0001583	missense	54497	exon25			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.3938_3939delinsCA	2.37:g.37247894_37247895delinsCA	ENSP00000233099:p.Ala1313Val		37101398	NM_019024	B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	DNP	ENST00000233099.5	37	CCDS33181.1																																																																																				0.460	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024	
BCS1L	617	broad.mit.edu	37	2	219526217	219526218	+	Missense_Mutation	DNP	TT	TT	GA			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	TT	TT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr2:219526217_219526218TT>GA	ENST00000431802.1	+	3	1108_1109	c.409_410TT>GA	c.(409-411)TTc>GAc	p.F137D	ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000439945.1_Missense_Mutation_p.F137D|BCS1L_ENST00000392110.2_Missense_Mutation_p.F137D|BCS1L_ENST00000392111.2_Missense_Mutation_p.F137D|BCS1L_ENST00000412366.1_Missense_Mutation_p.F137D|ZNF142_ENST00000449707.1_5'Flank|BCS1L_ENST00000359273.3_Missense_Mutation_p.F137D|BCS1L_ENST00000392109.1_Missense_Mutation_p.F137D			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	137					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.F137>?(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCTGTCACCTTCACGGCCCTG	0.535																																					.												.	.	1	Complex(1)	large_intestine(1)	c.409_410GA	2						.																																			219234462	SO:0001583	missense	617	exon4			AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	Exception_encountered	2.37:g.219526217_219526218delinsGA	ENSP00000413908:p.Phe137Asp		219234461	NM_004328	B3KTW9|Q7Z2V7	Missense_Mutation	DNP	ENST00000431802.1	37	CCDS2419.1																																																																																				0.535	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328	
FILIP1L	11259	broad.mit.edu	37	3	99568981	99568981	+	Silent	SNP	T	T	C			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr3:99568981T>C	ENST00000354552.3	-	5	2009	c.1539A>G	c.(1537-1539)aaA>aaG	p.K513K	FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Silent_p.K273K|FILIP1L_ENST00000331335.5_Silent_p.K513K|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Silent_p.K89K|FILIP1L_ENST00000383694.2_Silent_p.K273K	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	513						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.K513K(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						TATCTTCAGTTTTCTTTAATT	0.323																																					p.K513K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1539G	3						.						77.0	64.0	68.0					3																	99568981		1809	4072	5881	101051671	SO:0001819	synonymous_variant	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.1539A>G	3.37:g.99568981T>C			101051671	NM_182909	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Silent	SNP	ENST00000354552.3	37	CCDS43117.1																																																																																				0.323	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890	
WDR5B	54554	broad.mit.edu	37	3	122133703	122133703	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr3:122133703T>G	ENST00000330689.4	-	1	1179	c.673A>C	c.(673-675)Att>Ctt	p.I225L	RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	225								p.I225L(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		GCAGTGAGAATGTATTTACCA	0.388																																					p.I225L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A673C	3						.						99.0	106.0	104.0					3																	122133703		2203	4300	6503	123616393	SO:0001583	missense	54554	exon1			AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"""WD repeat domain containing"""	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.673A>C	3.37:g.122133703T>G	ENSP00000330381:p.Ile225Leu		123616393	NM_019069	B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	37	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.898485	0.33535	.	.	ENSG00000196981	ENST00000330689	T	0.53423	0.62	4.77	2.31	0.28768	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.152844	0.64402	N	0.000018	T	0.18964	0.0455	N	0.02960	-0.455	0.47308	D	0.999388	B	0.06786	0.001	B	0.12837	0.008	T	0.13980	-1.0489	10	0.06494	T	0.89	.	10.3687	0.44039	0.0:0.0:0.2984:0.7016	.	225	Q86VZ2	WDR5B_HUMAN	L	225	ENSP00000330381:I225L	ENSP00000330381:I225L	I	-	1	0	WDR5B	123616393	0.995000	0.38212	0.669000	0.29828	0.865000	0.49528	2.061000	0.41403	0.390000	0.25115	0.459000	0.35465	ATT		0.388	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069	
DBR1	51163	broad.mit.edu	37	3	137890544	137890544	+	Missense_Mutation	SNP	C	C	T	rs375979874		TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr3:137890544C>T	ENST00000260803.4	-	3	487	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	DBR1_ENST00000505015.2_De_novo_Start_InFrame|DBR1_ENST00000463982.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	112					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)	p.V112M(1)		NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TATTTTACCACACCAGCCAAA	0.338																																					p.V112M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G334A	3						.	C	MET/VAL	0,4406		0,0,2203	78.0	79.0	78.0		334	4.9	1.0	3		78	1,8599	1.2+/-3.3	0,1,4299	no	missense	DBR1	NM_016216.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	112/545	137890544	1,13005	2203	4300	6503	139373234	SO:0001583	missense	51163	exon3			AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.334G>A	3.37:g.137890544C>T	ENSP00000260803:p.Val112Met		139373234	NM_016216	Q96GH0|Q9NXQ6	Missense_Mutation	SNP	ENST00000260803.4	37	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.823184	0.71143	0.0	1.16E-4	ENSG00000138231	ENST00000260803	T	0.37058	1.22	5.77	4.89	0.63831	Metallophosphoesterase domain (1);	0.062163	0.64402	D	0.000005	T	0.67524	0.2902	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75852	-0.3171	10	0.87932	D	0	-25.468	12.7059	0.57060	0.0:0.9206:0.0:0.0794	.	112	Q9UK59	DBR1_HUMAN	M	112	ENSP00000260803:V112M	ENSP00000260803:V112M	V	-	1	0	DBR1	139373234	0.997000	0.39634	1.000000	0.80357	0.969000	0.65631	2.982000	0.49337	1.442000	0.47568	0.655000	0.94253	GTG		0.338	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1		
SLC7A14	57709	broad.mit.edu	37	3	170216490	170216490	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr3:170216490G>A	ENST00000231706.5	-	4	1040	c.725C>T	c.(724-726)gCg>gTg	p.A242V	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	242					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.A242V(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)			CTGGCCCTCCGCCCAGTATTT	0.512																																					p.A242V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C725T	3						.						73.0	70.0	71.0					3																	170216490		2203	4300	6503	171699184	SO:0001583	missense	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.725C>T	3.37:g.170216490G>A	ENSP00000231706:p.Ala242Val		171699184	NM_020949	B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227968	0.58777	.	.	ENSG00000013293	ENST00000231706	D	0.90004	-2.6	5.99	5.99	0.97316	Amino acid permease domain (1);	0.147674	0.64402	D	0.000012	T	0.76062	0.3935	N	0.02765	-0.5	0.34271	D	0.681031	B	0.06786	0.001	B	0.06405	0.002	T	0.75872	-0.3164	10	0.36615	T	0.2	.	14.6024	0.68450	0.069:0.0:0.931:0.0	.	242	Q8TBB6	S7A14_HUMAN	V	242	ENSP00000231706:A242V	ENSP00000231706:A242V	A	-	2	0	SLC7A14	171699184	1.000000	0.71417	0.990000	0.47175	0.846000	0.48090	5.877000	0.69675	2.840000	0.97914	0.655000	0.94253	GCG		0.512	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949	
CTNNB1	1499	broad.mit.edu	37	3	41268762	41268762	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr3:41268762G>A	ENST00000349496.5	+	7	1280	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	CTNNB1_ENST00000396185.3_Missense_Mutation_p.E334K|CTNNB1_ENST00000453024.1_Missense_Mutation_p.E327K|CTNNB1_ENST00000405570.1_Missense_Mutation_p.E334K|CTNNB1_ENST00000396183.3_Missense_Mutation_p.E334K	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	334					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|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 cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.E334K(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CTATACTTACGAAAAACTACT	0.383		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												p.E334K	Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1000A	3						.						107.0	107.0	107.0					3																	41268762		2203	4300	6503	41243766	SO:0001583	missense	1499	exon7	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1000G>A	3.37:g.41268762G>A	ENSP00000344456:p.Glu334Lys		41243766	NM_001098210	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	32	5.123076	0.94429	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	5.5	4.63	0.57726	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83626	0.5295	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.70487	0.904;0.969	D	0.85894	0.1430	10	0.46703	T	0.11	-7.2127	14.2531	0.66033	0.0718:0.0:0.9281:0.0	.	262;334	B4DSW9;P35222	.;CTNB1_HUMAN	K	334;334;334;327;334	ENSP00000385604:E334K;ENSP00000379486:E334K;ENSP00000344456:E334K;ENSP00000411226:E327K;ENSP00000379488:E334K	ENSP00000344456:E334K	E	+	1	0	CTNNB1	41243766	1.000000	0.71417	0.945000	0.38365	0.943000	0.58893	9.869000	0.99810	1.335000	0.45486	0.591000	0.81541	GAA		0.383	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
ELP6	54859	broad.mit.edu	37	3	47537665	47537665	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr3:47537665G>A	ENST00000296149.4	-	7	865	c.695C>T	c.(694-696)cCa>cTa	p.P232L	ELP6_ENST00000446787.1_Missense_Mutation_p.P159L|ELP6_ENST00000439305.1_Missense_Mutation_p.P159L	NM_001031703.2	NP_001026873.2	Q0PNE2	ELP6_HUMAN	elongator acetyltransferase complex subunit 6	232					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Elongator holoenzyme complex (GO:0033588)		p.P232L(1)									GGGCTGCGATGGTCTCCTCCA	0.532																																					p.P232L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C695T	3						.						69.0	72.0	71.0					3																	47537665		1997	4172	6169	47512669	SO:0001583	missense	54859	exon7			AK000218	CCDS43082.1	3p21.31	2012-08-14	2012-08-08	2012-08-08	ENSG00000163832	ENSG00000163832		"""Elongator acetyltransferase complex subunits"""	25976	protein-coding gene	gene with protein product		615020	"""transmembrane protein 103"", ""chromosome 3 open reading frame 75"""	TMEM103, C3orf75		22854966	Standard	XM_005265241		Approved	FLJ20211	uc003crk.3	Q0PNE2	OTTHUMG00000133521	ENST00000296149.4:c.695C>T	3.37:g.47537665G>A	ENSP00000296149:p.Pro232Leu		47512669	NM_001031703	Q9BW57|Q9NXJ3	Missense_Mutation	SNP	ENST00000296149.4	37	CCDS43082.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.590665	0.28357	.	.	ENSG00000163832	ENST00000296149;ENST00000450051;ENST00000446787;ENST00000439305	.	.	.	5.38	2.17	0.27698	.	0.752409	0.13689	N	0.369667	T	0.28466	0.0704	L	0.31926	0.97	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.17379	-1.0371	9	0.27785	T	0.31	-1.1563	7.4524	0.27246	0.3158:0.0:0.6842:0.0	.	208;232	B4DP60;Q0PNE2	.;CC075_HUMAN	L	232;208;159;159	.	ENSP00000296149:P232L	P	-	2	0	C3orf75	47512669	0.061000	0.20836	0.001000	0.08648	0.575000	0.36095	2.639000	0.46570	0.662000	0.31006	0.561000	0.74099	CCA		0.532	ELP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257493.1	NM_017713	
LAMB2	3913	broad.mit.edu	37	3	49162721	49162721	+	Silent	SNP	G	G	C			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr3:49162721G>C	ENST00000418109.1	-	20	2849	c.2685C>G	c.(2683-2685)ggC>ggG	p.G895G	LAMB2_ENST00000464891.1_5'UTR|LAMB2_ENST00000305544.4_Silent_p.G895G	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	895	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.G895G(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GATCACGGCAGCCCAGGCAAG	0.602																																					p.G895G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2685G	3						.						136.0	132.0	133.0					3																	49162721		2203	4300	6503	49137725	SO:0001819	synonymous_variant	3913	exon19				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.2685C>G	3.37:g.49162721G>C			49137725	NM_002292	Q16321	Silent	SNP	ENST00000418109.1	37	CCDS2789.1																																																																																				0.602	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292	
IQCF3	401067	broad.mit.edu	37	3	51864540	51864540	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr3:51864540T>C	ENST00000456080.1	+	8	1353	c.188T>C	c.(187-189)aTt>aCt	p.I63T	IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000437810.2_Missense_Mutation_p.I63T|IQCF3_ENST00000446775.1_Missense_Mutation_p.I63T|IQCF3_ENST00000440739.2_Missense_Mutation_p.I63T|IQCF3_ENST00000444293.1_Silent_p.D26D			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	63								p.I63T(2)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCCTGGATGATTCAGTGCTGG	0.642																																					p.I63T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T188C	3						.						71.0	81.0	77.0					3																	51864540		2199	4296	6495	51839580	SO:0001583	missense	401067	exon5			AK057432	CCDS46837.1	3p21.31	2008-06-12			ENSG00000229972	ENSG00000229972			31816	protein-coding gene	gene with protein product							Standard	NM_001085479		Approved		uc021wyz.1	P0C7M6	OTTHUMG00000156910	ENST00000456080.1:c.188T>C	3.37:g.51864540T>C	ENSP00000415609:p.Ile63Thr		51839580	NM_001085479	B2RUV0	Missense_Mutation	SNP	ENST00000456080.1	37	CCDS46837.1	.	.	.	.	.	.	.	.	.	.	t	20.6	4.018825	0.75275	.	.	ENSG00000229972	ENST00000456080;ENST00000437810;ENST00000446775;ENST00000440739	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	4.72	4.72	0.59763	.	.	.	.	.	T	0.65091	0.2658	M	0.67569	2.06	0.30902	N	0.729192	D	0.89917	1.0	D	0.83275	0.996	T	0.67011	-0.5778	9	0.87932	D	0	.	10.782	0.46384	0.0:0.0:0.0:1.0	.	63	P0C7M6	IQCF3_HUMAN	T	63	ENSP00000415609:I63T;ENSP00000409373:I63T;ENSP00000401767:I63T;ENSP00000402012:I63T	ENSP00000409373:I63T	I	+	2	0	IQCF3	51839580	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.514000	0.53422	2.122000	0.65172	0.533000	0.62120	ATT		0.642	IQCF3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346579.2	NM_001085479	
ROBO2	6092	broad.mit.edu	37	3	77599997	77599997	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr3:77599997A>T	ENST00000461745.1	+	8	1988	c.1088A>T	c.(1087-1089)cAg>cTg	p.Q363L	ROBO2_ENST00000332191.8_Missense_Mutation_p.Q363L|ROBO2_ENST00000487694.3_Missense_Mutation_p.Q379L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	363	Ig-like C2-type 4.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.Q363L(1)|p.Q379L(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAACCCCAGCAGCCCAACAGT	0.433																																					p.Q363L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1088T	3						.						86.0	87.0	86.0					3																	77599997		1923	4129	6052	77682687	SO:0001583	missense	6092	exon8			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1088A>T	3.37:g.77599997A>T	ENSP00000417164:p.Gln363Leu		77682687	NM_002942	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.794854	0.90453	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.73681	-0.77;-0.77;-0.77	5.35	5.35	0.76521	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43416	D	0.000574	T	0.71307	0.3324	N	0.17631	0.505	0.40467	D	0.980307	P;P;P	0.46987	0.888;0.758;0.797	P;P;P	0.52424	0.698;0.669;0.698	T	0.76329	-0.2999	9	0.38643	T	0.18	.	15.6195	0.76796	1.0:0.0:0.0:0.0	.	379;363;363	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	L	379;379;383;363;363;84	ENSP00000417335:Q379L;ENSP00000417164:Q363L;ENSP00000327536:Q363L	ENSP00000327536:Q363L	Q	+	2	0	ROBO2	77682687	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.448000	0.80631	2.159000	0.67721	0.402000	0.26972	CAG		0.433	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, 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.E545K(881)|p.E545Q(18)		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)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.E545K	Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	PIK3CA,urinary_tract,bladder,Substitution - Missense,0 	.	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	c.G1633A	3						.						61.0	60.0	60.0					3																	178936091		1813	4072	5885	180418785	SO:0001583	missense	5290	exon10				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.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		180418785	NM_006218	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
FAT4	79633	broad.mit.edu	37	4	126400914	126400914	+	Silent	SNP	C	C	T	rs190749052	byFrequency	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr4:126400914C>T	ENST00000394329.3	+	14	12505	c.12492C>T	c.(12490-12492)ggC>ggT	p.G4164G	FAT4_ENST00000335110.5_Intron	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4164	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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.G4164G(1)		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						GGCTGGAAGGCGCTTGTACTC	0.423													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		14826	0.0		0.001	False		,,,				2504	0.0				p.G4164G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C12492T	4						.	C		2,3134		0,2,1566	71.0	65.0	67.0		12492	-10.1	0.2	4		67	0,7164		0,0,3582	no	coding-synonymous	FAT4	NM_024582.4		0,2,5148	TT,TC,CC		0.0,0.0638,0.0194		4164/4982	126400914	2,10298	1568	3582	5150	126620364	SO:0001819	synonymous_variant	79633	exon14			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.12492C>T	4.37:g.126400914C>T			126620364	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.423	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
PCDH10	57575	broad.mit.edu	37	4	134072475	134072475	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr4:134072475C>G	ENST00000264360.5	+	1	2006	c.1180C>G	c.(1180-1182)Cag>Gag	p.Q394E	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	394	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.Q394E(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGGCAGGTGCAGTGCGAGCT	0.617																																					p.Q394E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1180G	4						.						120.0	121.0	121.0					4																	134072475		2203	4300	6503	134291925	SO:0001583	missense	57575	exon1			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1180C>G	4.37:g.134072475C>G	ENSP00000264360:p.Gln394Glu		134291925	NM_032961	Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342582	0.24339	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.01665	4.7	4.68	4.68	0.58851	Cadherin (4);Cadherin-like (1);	0.000000	0.42821	D	0.000651	T	0.01940	0.0061	L	0.28556	0.865	0.30694	N	0.751034	B;B	0.23937	0.094;0.006	B;B	0.22386	0.039;0.038	T	0.34453	-0.9828	10	0.10377	T	0.69	.	17.3997	0.87456	0.0:1.0:0.0:0.0	.	394;394	Q9P2E7;Q96SF0	PCD10_HUMAN;.	E	394	ENSP00000264360:Q394E	ENSP00000264360:Q394E	Q	+	1	0	PCDH10	134291925	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.388000	0.34442	2.423000	0.82170	0.561000	0.74099	CAG		0.617	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	A	rs149680468		TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr4:153247289G>A	ENST00000281708.4	-	10	2742	c.1513C>T	c.(1513-1515)Cgc>Tgc	p.R505C	FBXW7_ENST00000603548.1_Missense_Mutation_p.R505C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																p.R425C			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	FBXW7,haematopoietic_and_lymphoid_tissue,NS,Substitution - Missense,0 	.	139	Substitution - Missense(138)|Unknown(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)	c.C1273T	4						.						167.0	156.0	160.0					4																	153247289		2203	4300	6503	153466739	SO:0001583	missense	55294	exon9			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>T	4.37:g.153247289G>A	ENSP00000281708:p.Arg505Cys		153466739	NM_018315	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722220	0.68959	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	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	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	505;387;425;329	ENSP00000281708:R505C;ENSP00000296555:R387C;ENSP00000263981:R425C;ENSP00000377528:R329C	ENSP00000263981:R425C	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
ZCCHC4	29063	broad.mit.edu	37	4	25370720	25370720	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr4:25370720G>T	ENST00000302874.4	+	13	1500	c.1476G>T	c.(1474-1476)atG>atT	p.M492I		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	492							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GACAATCCATGAATCATACAT	0.378																																					p.M492I												.	.	0			c.G1476T	4						.						104.0	98.0	100.0					4																	25370720		1866	4110	5976	24979818	SO:0001583	missense	29063	exon13			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.1476G>T	4.37:g.25370720G>T	ENSP00000303468:p.Met492Ile		24979818	NM_024936	B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	37	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451169	0.26074	.	.	ENSG00000168228	ENST00000302874	T	0.28255	1.62	5.81	5.81	0.92471	.	0.322409	0.33753	N	0.004587	T	0.23370	0.0565	N	0.25647	0.755	0.30634	N	0.757179	B	0.18863	0.031	B	0.10450	0.005	T	0.07404	-1.0774	10	0.17832	T	0.49	-16.9947	16.8241	0.85926	0.0:0.0:1.0:0.0	.	492	Q9H5U6	ZCHC4_HUMAN	I	492	ENSP00000303468:M492I	ENSP00000303468:M492I	M	+	3	0	ZCCHC4	24979818	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	5.136000	0.64783	2.746000	0.94184	0.591000	0.81541	ATG		0.378	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1		
LRRC66	339977	broad.mit.edu	37	4	52861080	52861080	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr4:52861080C>A	ENST00000343457.3	-	4	2114	c.2108G>T	c.(2107-2109)tGt>tTt	p.C703F		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	703						integral component of membrane (GO:0016021)		p.C703F(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATCAGAGTCACAGTCACTCTC	0.527																																					p.C703F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2108T	4						.						93.0	88.0	90.0					4																	52861080		2002	4176	6178	52555837	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.2108G>T	4.37:g.52861080C>A	ENSP00000341944:p.Cys703Phe		52555837	NM_001024611		Missense_Mutation	SNP	ENST00000343457.3	37	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	1.627	-0.520109	0.04171	.	.	ENSG00000188993	ENST00000343457	T	0.28454	1.61	4.42	-8.84	0.00803	.	1.228150	0.05842	N	0.619482	T	0.13543	0.0328	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.24048	-1.0171	10	0.39692	T	0.17	0.0052	5.3206	0.15879	0.0979:0.2158:0.5123:0.174	.	703	Q68CR7	LRC66_HUMAN	F	703	ENSP00000341944:C703F	ENSP00000341944:C703F	C	-	2	0	LRRC66	52555837	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.422000	0.07043	-1.669000	0.01470	-0.150000	0.13652	TGT		0.527	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611	
TLL1	7092	broad.mit.edu	37	4	166910608	166910608	+	Missense_Mutation	SNP	C	C	T	rs148035251	byFrequency	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr4:166910608C>T	ENST00000061240.2	+	2	892	c.245C>T	c.(244-246)aCg>aTg	p.T82M	TLL1_ENST00000507499.1_Missense_Mutation_p.T82M|TLL1_ENST00000513213.1_Missense_Mutation_p.T82M	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	82					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T82M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATTGACCTTACGCAGAACCCC	0.328													C|||	2	0.000399361	0.0008	0.0	5008	,	,		15635	0.001		0.0	False		,,,				2504	0.0				p.T82M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C245T	4						.	C	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	120.0	124.0	123.0		245,245	5.5	1.0	4	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TLL1	NM_001204760.1,NM_012464.4	81,81	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging,probably-damaging	82/393,82/1014	166910608	3,13003	2203	4300	6503	167130058	SO:0001583	missense	7092	exon2			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.245C>T	4.37:g.166910608C>T	ENSP00000061240:p.Thr82Met		167130058	NM_012464	B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226998	0.79576	4.54E-4	1.16E-4	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.60171	0.39;0.3;0.21	5.5	5.5	0.81552	.	0.062767	0.64402	U	0.000006	T	0.73992	0.3658	M	0.71581	2.175	0.48395	D	0.999643	D;D	0.89917	1.0;0.999	P;P	0.61275	0.886;0.828	T	0.74463	-0.3657	10	0.49607	T	0.09	.	19.3885	0.94566	0.0:1.0:0.0:0.0	.	82;82	E9PD25;O43897	.;TLL1_HUMAN	M	82	ENSP00000061240:T82M;ENSP00000426082:T82M;ENSP00000422937:T82M	ENSP00000061240:T82M	T	+	2	0	TLL1	167130058	0.999000	0.42202	0.994000	0.49952	0.827000	0.46813	4.087000	0.57671	2.599000	0.87857	0.655000	0.94253	ACG		0.328	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		
APC	324	broad.mit.edu	37	5	112173917	112173917	+	Nonsense_Mutation	SNP	C	C	T	rs121913333		TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr5:112173917C>T	ENST00000457016.1	+	16	3006	c.2626C>T	c.(2626-2628)Cga>Tga	p.R876*	APC_ENST00000257430.4_Nonsense_Mutation_p.R876*|APC_ENST00000508376.2_Nonsense_Mutation_p.R876*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	876	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.R876*(38)|p.S874_R876>*(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)		TTCTTCAAAGCGAGGTTTGCA	0.463		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.R858X	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,NS,Substitution - Nonsense,0 	.	40	Substitution - Nonsense(38)|Unknown(1)|Complex - deletion inframe(1)	large_intestine(37)|lung(1)|breast(1)|skin(1)	c.C2572T	5	GRCh37	CM942020	APC	M	rs121913333	.						70.0	72.0	71.0					5																	112173917		2202	4300	6502	112201816	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.2626C>T	5.37:g.112173917C>T	ENSP00000413133:p.Arg876*		112201816	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	37	6.588996	0.97688	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.92	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2738	14.8639	0.70401	0.3912:0.6088:0.0:0.0	.	.	.	.	X	876;858;876;876;876	.	ENSP00000257430:R876X	R	+	1	2	APC	112201816	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.385000	0.34408	0.785000	0.33685	0.557000	0.71058	CGA		0.463	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
CTNND2	1501	broad.mit.edu	37	5	11364928	11364928	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr5:11364928G>T	ENST00000304623.8	-	8	1441	c.1252C>A	c.(1252-1254)Cac>Aac	p.H418N	CTNND2_ENST00000359640.2_Missense_Mutation_p.H418N|CTNND2_ENST00000511377.1_Missense_Mutation_p.H327N|CTNND2_ENST00000503622.1_Missense_Mutation_p.H81N|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	418					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)				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						TCTATGTGGTGTTCTGGGGAC	0.597																																					p.H418N												.	.	0			c.C1252A	5						.						55.0	59.0	58.0					5																	11364928		2203	4300	6503	11417928	SO:0001583	missense	1501	exon8			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.1252C>A	5.37:g.11364928G>T	ENSP00000307134:p.His418Asn		11417928	NM_001332	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544429	0.86022	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551	T;T;T;T	0.77750	-1.03;-1.1;-1.03;-1.12	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	D	0.84969	0.5590	L	0.50333	1.59	0.80722	D	1	D;D	0.69078	0.981;0.997	D;D	0.73380	0.954;0.98	T	0.81775	-0.0778	10	0.27785	T	0.31	-22.4703	19.3321	0.94295	0.0:0.0:1.0:0.0	.	81;418	B4DRK2;Q9UQB3	.;CTND2_HUMAN	N	418;418;327;81;158	ENSP00000307134:H418N;ENSP00000352661:H418N;ENSP00000426510:H327N;ENSP00000426887:H81N	ENSP00000307134:H418N	H	-	1	0	CTNND2	11417928	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.476000	0.97823	2.581000	0.87130	0.655000	0.94253	CAC		0.597	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
APC	324	broad.mit.edu	37	5	112175576	112175576	+	Nonsense_Mutation	SNP	C	C	T	rs74535574		TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr5:112175576C>T	ENST00000457016.1	+	16	4665	c.4285C>T	c.(4285-4287)Caa>Taa	p.Q1429*	APC_ENST00000257430.4_Nonsense_Mutation_p.Q1429*|APC_ENST00000508376.2_Nonsense_Mutation_p.Q1429*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1429	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.Q1429*(35)|p.Q1429fs*8(4)|p.Y1376fs*41(1)|p.?(1)|p.P1424fs*19(1)|p.S1411fs*41(1)|p.K1192fs*3(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)		TAGCCCTGGACAAACCATGCC	0.468	Q1429*(NCIH747_LARGE_INTESTINE)|Q1429*(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.Q1411X	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,NS,Substitution - Nonsense,0 	.	44	Substitution - Nonsense(35)|Deletion - Frameshift(8)|Unknown(1)	large_intestine(42)|soft_tissue(1)|skin(1)	c.C4231T	5	GRCh37	HM050024	APC	M	rs74535574	.						109.0	98.0	102.0					5																	112175576		2202	4300	6502	112203475	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.4285C>T	5.37:g.112175576C>T	ENSP00000413133:p.Gln1429*		112203475	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	41	8.799924	0.98958	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.8813	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	1429	.	.	Q	+	1	0	APC	112203475	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.884000	0.98904	0.655000	0.94253	CAA		0.468	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
PRR16	51334	broad.mit.edu	37	5	120021725	120021725	+	Missense_Mutation	SNP	C	C	T	rs201082218		TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr5:120021725C>T	ENST00000407149.2	+	2	445	c.236C>T	c.(235-237)aCg>aTg	p.T79M	PRR16_ENST00000505123.1_Missense_Mutation_p.T9M|PRR16_ENST00000379551.2_Missense_Mutation_p.T56M|PRR16_ENST00000446965.1_Missense_Mutation_p.T9M			Q569H4	LARGN_HUMAN	proline rich 16	79					positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)			p.T56M(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AAAACGGACACGCTGAATAGT	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		18312	0.0		0.001	False		,,,				2504	0.0				p.T56M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C167T	5						.						112.0	101.0	105.0					5																	120021725		2203	4300	6503	120049624	SO:0001583	missense	51334	exon3			AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.236C>T	5.37:g.120021725C>T	ENSP00000385118:p.Thr79Met		120049624	NM_016644	D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	21.5	4.165063	0.78339	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000509923;ENST00000505123;ENST00000446965	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.75679	0.3882	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75077	-0.3445	9	.	.	.	-1.0239	18.0795	0.89438	0.0:1.0:0.0:0.0	.	79;56	Q569H4;Q569H4-3	PRR16_HUMAN;.	M	79;56;9;9;9	ENSP00000385118:T79M;ENSP00000368869:T56M;ENSP00000421256:T9M;ENSP00000423446:T9M;ENSP00000405491:T9M	.	T	+	2	0	PRR16	120049624	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.425000	0.80255	2.568000	0.86640	0.555000	0.69702	ACG		0.512	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644	
PCDHB8	56128	broad.mit.edu	37	5	140557624	140557624	+	Silent	SNP	C	C	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr5:140557624C>T	ENST00000239444.2	+	1	254	c.9C>T	c.(7-9)gcC>gcT	p.A3A		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	3					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A3A(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)			CAATGGAGGCCAGCGGGAAGC	0.512																																					p.A3A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C9T	5						.																																			140537808	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.9C>T	5.37:g.140557624C>T			140537808	NM_019120	B9EGV1	Silent	SNP	ENST00000239444.2	37	CCDS4250.1																																																																																				0.512	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120	
PCDHGB3	56102	broad.mit.edu	37	5	140750472	140750472	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr5:140750472T>A	ENST00000576222.1	+	1	642	c.511T>A	c.(511-513)Tac>Aac	p.Y171N	PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	171	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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCAGTACTACCTCAGCCC	0.527																																					p.Y171N												.	.	0			c.T511A	5						.						207.0	205.0	205.0					5																	140750472		2050	4194	6244	140730656	SO:0001583	missense	56102	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.511T>A	5.37:g.140750472T>A	ENSP00000461862:p.Tyr171Asn		140730656	NM_018924	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.527	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
GRIA1	2890	broad.mit.edu	37	5	153174224	153174224	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr5:153174224C>A	ENST00000285900.5	+	14	2657	c.2314C>A	c.(2314-2316)Ctt>Att	p.L772I	GRIA1_ENST00000518783.1_Missense_Mutation_p.L782I|GRIA1_ENST00000518142.1_Missense_Mutation_p.L692I|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000521843.2_Missense_Mutation_p.L703I|GRIA1_ENST00000448073.4_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	772					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.L772I(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)	CGAGCAGGGGCTTTTGGACAA	0.443																																					p.L772I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2314A	5						.						71.0	73.0	72.0					5																	153174224		2203	4300	6503	153154417	SO:0001583	missense	2890	exon14				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.2314C>A	5.37:g.153174224C>A	ENSP00000285900:p.Leu772Ile		153154417	NM_000827	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059450	0.36373	.	.	ENSG00000155511	ENST00000285900;ENST00000518142;ENST00000521843;ENST00000544794;ENST00000518783	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	5.27	5.27	0.74061	Ionotropic glutamate receptor (2);	0.177387	0.50627	D	0.000107	T	0.10035	0.0246	N	0.00972	-1.085	0.52099	D	0.99994	B;B;B	0.16396	0.017;0.0;0.001	B;B;B	0.18561	0.022;0.008;0.013	T	0.26815	-1.0092	10	0.11182	T	0.66	.	18.2299	0.89931	0.0:1.0:0.0:0.0	.	782;692;772	E7ESV8;B7Z3F6;P42261	.;.;GRIA1_HUMAN	I	772;692;705;703;782	ENSP00000285900:L772I;ENSP00000427920:L692I;ENSP00000427864:L705I;ENSP00000442108:L703I;ENSP00000428994:L782I	ENSP00000285900:L772I	L	+	1	0	GRIA1	153154417	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.600000	0.82769	2.621000	0.88768	0.650000	0.86243	CTT		0.443	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		
FASTKD3	79072	broad.mit.edu	37	5	7866944	7866945	+	Missense_Mutation	DNP	AG	AG	GC			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	AG	AG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr5:7866944_7866945AG>GC	ENST00000264669.5	-	2	1388_1389	c.1252_1253CT>GC	c.(1252-1254)CTc>GCc	p.L418A	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000440940.2_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	418					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.L418>?(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						CAAATAATTGAGTTTCCCAAAT	0.361																																					.												.	.	1	Complex(1)	large_intestine(1)	c.1252_1253GC	5						.																																			7919945	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.1252_1253delinsGC	5.37:g.7866944_7866945delinsGC	ENSP00000264669:p.Leu418Ala		7919944	NM_024091	Q9BVD3	Missense_Mutation	DNP	ENST00000264669.5	37	CCDS3873.1																																																																																				0.361	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091	
IL31RA	133396	broad.mit.edu	37	5	55212623	55212623	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr5:55212623G>C	ENST00000447346.2	+	15	2035	c.1970G>C	c.(1969-1971)aGa>aCa	p.R657T	IL31RA_ENST00000354961.4_Missense_Mutation_p.R638T|IL31RA_ENST00000359040.5_Missense_Mutation_p.R657T|IL31RA_ENST00000396834.1_Missense_Mutation_p.R638T|IL31RA_ENST00000490985.1_Missense_Mutation_p.R515T	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	625					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.R657T(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)				GATGAAGCCAGAACGGGTCAG	0.468																																					p.R657T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1970C	5						.						72.0	76.0	75.0					5																	55212623		2203	4300	6503	55248380	SO:0001583	missense	133396	exon15			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.1970G>C	5.37:g.55212623G>C	ENSP00000415900:p.Arg657Thr		55248380	NM_139017	A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	G	3.290	-0.145205	0.06627	.	.	ENSG00000164509	ENST00000396834;ENST00000447346;ENST00000359040;ENST00000490985;ENST00000354961	T;T;T;T;T	0.40756	1.19;1.21;1.16;1.02;1.19	5.78	-2.24	0.06909	.	1.152470	0.06389	N	0.716669	T	0.16214	0.0390	N	0.08118	0	0.09310	N	1	B;B;B	0.16396	0.017;0.007;0.01	B;B;B	0.08055	0.003;0.003;0.003	T	0.18053	-1.0349	10	0.09338	T	0.73	-13.4927	1.7377	0.02945	0.3103:0.103:0.4173:0.1693	.	657;638;657	Q8NI17-5;Q8NI17-3;Q8NI17-2	.;.;.	T	638;657;657;515;638	ENSP00000380046:R638T;ENSP00000415900:R657T;ENSP00000351935:R657T;ENSP00000427533:R515T;ENSP00000347047:R638T	ENSP00000347047:R638T	R	+	2	0	IL31RA	55248380	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.349000	0.07731	-0.275000	0.09219	-0.137000	0.14449	AGA		0.468	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017	
CCNB1	891	broad.mit.edu	37	5	68467140	68467140	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr5:68467140C>T	ENST00000256442.5	+	4	660	c.407C>T	c.(406-408)gCc>gTc	p.A136V		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	136					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)	p.A136V(1)|p.A136D(1)		large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TCTGGATGTGCCCCTGCAGAA	0.423																																					p.A136V												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C407T	5						.						129.0	126.0	127.0					5																	68467140		2203	4300	6503	68502896	SO:0001583	missense	891	exon4			U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"""G2/mitotic-specific cyclin B1"""	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.407C>T	5.37:g.68467140C>T	ENSP00000256442:p.Ala136Val		68502896	NM_031966	A8K066|Q5TZP9	Missense_Mutation	SNP	ENST00000256442.5	37	CCDS3997.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167016	0.38217	.	.	ENSG00000134057	ENST00000256442;ENST00000506572;ENST00000508407;ENST00000505500	T;T;T;T	0.14266	2.64;2.52;2.52;2.52	5.88	5.88	0.94601	.	0.461328	0.25369	N	0.031164	T	0.13329	0.0323	L	0.53249	1.67	0.42256	D	0.991992	B;B;B	0.17268	0.021;0.002;0.004	B;B;B	0.17979	0.02;0.005;0.009	T	0.10291	-1.0636	10	0.25106	T	0.35	.	7.9468	0.29991	0.1608:0.7598:0.0:0.0794	.	136;136;136	E9PC90;Q5TZP9;P14635	.;.;CCNB1_HUMAN	V	136	ENSP00000256442:A136V;ENSP00000423387:A136V;ENSP00000426092:A136V;ENSP00000424588:A136V	ENSP00000256442:A136V	A	+	2	0	CCNB1	68502896	0.029000	0.19370	0.971000	0.41717	0.984000	0.73092	1.110000	0.31147	2.789000	0.95967	0.591000	0.81541	GCC		0.423	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215084.1	NM_031966	
CPEB4	80315	broad.mit.edu	37	5	173317791	173317791	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr5:173317791G>A	ENST00000265085.5	+	1	2509	c.1055G>A	c.(1054-1056)aGc>aAc	p.S352N	CPEB4_ENST00000519835.1_Missense_Mutation_p.S352N|CPEB4_ENST00000520867.1_Missense_Mutation_p.S352N|CPEB4_ENST00000334035.5_Missense_Mutation_p.S352N|CPEB4_ENST00000522336.1_5'Flank|CPEB4_ENST00000517880.1_5'Flank	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	352					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCTCGCCCCAGCTCTGCCTTT	0.438																																					p.S352N												.	.	0			c.G1055A	5						.						58.0	58.0	58.0					5																	173317791		2203	4300	6503	173250397	SO:0001583	missense	80315	exon1			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1055G>A	5.37:g.173317791G>A	ENSP00000265085:p.Ser352Asn		173250397	NM_030627	B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	CCDS4390.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.824|9.824	1.186478|1.186478	0.21870|0.21870	.|.	.|.	ENSG00000113742|ENSG00000113742	ENST00000519152|ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	.|T;T;T;T	.|0.44881	.|0.93;0.91;0.92;0.91	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.072214	.|0.85682	.|D	.|0.000000	T|T	0.27832|0.27832	0.0685|0.0685	N|N	0.16478|0.16478	0.41|0.41	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.04013	.|0.001;0.001;0.001;0.001	T|T	0.05550|0.05550	-1.0878|-1.0878	5|10	.|0.38643	.|T	.|0.18	-11.8811|-11.8811	12.3941|12.3941	0.55374|0.55374	0.0771:0.0:0.9229:0.0|0.0771:0.0:0.9229:0.0	.|.	.|352;352;352;352	.|B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0	.|.;.;.;CPEB4_HUMAN	T|N	38|352	.|ENSP00000265085:S352N;ENSP00000429092:S352N;ENSP00000334533:S352N;ENSP00000429048:S352N	.|ENSP00000265085:S352N	A|S	+|+	1|2	0|0	CPEB4|CPEB4	173250397|173250397	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.146000|5.146000	0.64845|0.64845	2.500000|2.500000	0.84329|0.84329	0.563000|0.563000	0.77884|0.77884	GCT|AGC		0.438	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627	
HIST1H3D	8351	broad.mit.edu	37	6	26197235	26197235	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr6:26197235C>G	ENST00000356476.2	-	1	243	c.244G>C	c.(244-246)Gat>Cat	p.D82H	HIST1H3D_ENST00000377831.5_Missense_Mutation_p.D82H|HIST1H2BF_ENST00000359985.1_5'Flank			P68431	H31_HUMAN	histone cluster 1, H3d	82					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.D82H(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				AAACGCAGATCAGTCTTGAAG	0.602																																					p.D82H	GBM(108;3816 4467)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G244C	6						.						78.0	75.0	76.0					6																	26197235		2203	4300	6503	26305214	SO:0001583	missense	8351	exon2			Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"""Histones / Replication-dependent"""	4767	protein-coding gene	gene with protein product		602811	"""H3 histone family, member B"", ""histone 1, H3d"""	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.244G>C	6.37:g.26197235C>G	ENSP00000366999:p.Asp82His		26305214	NM_003530	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000356476.2	37	CCDS4590.1	.	.	.	.	.	.	.	.	.	.	.	7.884	0.730826	0.15507	.	.	ENSG00000197409	ENST00000356476;ENST00000377831	T;T	0.50277	0.75;0.75	4.39	2.58	0.30949	.	.	.	.	.	T	0.39600	0.1084	.	.	.	0.33148	D	0.545291	.	.	.	.	.	.	T	0.37244	-0.9714	6	0.87932	D	0	.	9.6065	0.39637	0.0:0.8271:0.0:0.1729	.	.	.	.	H	82	ENSP00000366999:D82H;ENSP00000367062:D82H	ENSP00000366999:D82H	D	-	1	0	HIST1H3D	26305214	1.000000	0.71417	0.995000	0.50966	0.124000	0.20399	4.636000	0.61339	0.404000	0.25506	-0.140000	0.14226	GAT		0.602	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040096.1	NM_003530	
HIST1H2BK	85236	broad.mit.edu	37	6	27114437	27114437	+	Silent	SNP	C	C	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr6:27114437C>T	ENST00000356950.1	-	1	140	c.141G>A	c.(139-141)aaG>aaA	p.K47K	HIST1H2AH_ENST00000377459.1_5'Flank|HIST1H2BK_ENST00000396891.4_Silent_p.K47K|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	47					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K47K(2)		breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GGTGGACCTGCTTCAGCACCT	0.582																																					p.K47K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G141A	6						.						124.0	105.0	112.0					6																	27114437		2202	4280	6482	27222416	SO:0001819	synonymous_variant	85236	exon1			AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.141G>A	6.37:g.27114437C>T			27222416	NM_080593	A8K7P7|Q2VPI7	Silent	SNP	ENST00000356950.1	37	CCDS4621.1																																																																																				0.582	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593	
CCHCR1	54535	broad.mit.edu	37	6	31122345	31122345	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr6:31122345C>A	ENST00000376266.5	-	4	584	c.462G>T	c.(460-462)gaG>gaT	p.E154D	CCHCR1_ENST00000396263.2_Missense_Mutation_p.E154D|CCHCR1_ENST00000451521.2_Missense_Mutation_p.E207D|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396268.3_Missense_Mutation_p.E243D	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	154					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TCCGGACAACCTCAGCCCCAG	0.627																																					p.E207D												.	.	0			c.G621T	6						.						221.0	280.0	259.0					6																	31122345		1510	2709	4219	31230324	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.462G>T	6.37:g.31122345C>A	ENSP00000365442:p.Glu154Asp		31230324	NM_001105563	A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665528	0.67700	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521;ENST00000448141;ENST00000508683;ENST00000448162;ENST00000513222;ENST00000503420;ENST00000515274;ENST00000507751	T;T;T;T;T;T;T;T;T;T	0.05925	3.37;3.37;3.37;3.37;3.37;3.37;3.37;3.37;3.37;3.37	5.33	4.46	0.54185	.	0.261790	0.31542	N	0.007464	T	0.09992	0.0245	M	0.72118	2.19	0.27378	N	0.955494	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.999	D;D;D;D;D	0.85130	0.996;0.994;0.994;0.997;0.993	T	0.14531	-1.0469	10	0.26408	T	0.33	-22.0215	9.7017	0.40192	0.0:0.9042:0.0:0.0958	.	154;154;154;207;243	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	D	243;154;154;154;207;118;118;154;128;118;154;154	ENSP00000379566:E243D;ENSP00000365442:E154D;ENSP00000379561:E154D;ENSP00000401039:E207D;ENSP00000414323:E118D;ENSP00000421393:E118D;ENSP00000390027:E154D;ENSP00000425682:E128D;ENSP00000421992:E118D;ENSP00000420941:E154D	ENSP00000365442:E154D	E	-	3	2	CCHCR1	31230324	0.964000	0.33143	0.893000	0.35052	0.758000	0.43043	1.627000	0.37050	1.257000	0.44085	0.638000	0.83543	GAG		0.627	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052	
ITPR3	3710	broad.mit.edu	37	6	33648147	33648147	+	Silent	SNP	G	G	C	rs570866750		TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr6:33648147G>C	ENST00000374316.5	+	33	5326	c.4266G>C	c.(4264-4266)gtG>gtC	p.V1422V	ITPR3_ENST00000605930.1_Silent_p.V1422V			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1422					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.V1422V(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)	ACTGCTACGTGGACACGGAGG	0.607																																					p.V1422V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4266C	6						.						64.0	58.0	60.0					6																	33648147		2203	4300	6503	33756125	SO:0001819	synonymous_variant	3710	exon32			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.4266G>C	6.37:g.33648147G>C			33756125	NM_002224	Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	CCDS4783.1																																																																																				0.607	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	
MAPK13	5603	broad.mit.edu	37	6	36104513	36104513	+	Silent	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr6:36104513G>A	ENST00000211287.4	+	7	838	c.576G>A	c.(574-576)gaG>gaA	p.E192E	MAPK13_ENST00000373759.1_Silent_p.E114E|MAPK13_ENST00000373766.5_Silent_p.E192E|MAPK13_ENST00000373761.6_Silent_p.E182E	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 production (GO:0032755)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)	p.E192E(1)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						GAGCCCCCGAGGTGATCCTCA	0.592																																					p.E192E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G576A	6						.						33.0	32.0	32.0					6																	36104513		2203	4300	6503	36212491	SO:0001819	synonymous_variant	5603	exon7			Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6875	protein-coding gene	gene with protein product		602899		PRKM13		9295308, 9218798	Standard	NM_002754		Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587	ENST00000211287.4:c.576G>A	6.37:g.36104513G>A			36212491	NM_002754	O14739|O15124|Q5U4A5|Q6FI46|Q9UNU0	Silent	SNP	ENST00000211287.4	37	CCDS4818.1																																																																																				0.592	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040328.1		
WIPF3	644150	broad.mit.edu	37	7	29927733	29927734	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	-	-	-	-	-	-	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr7:29927733_29927734insG	ENST00000409290.1	+	5	1149_1150	c.1149_1150insG	c.(1150-1152)cctfs	p.P384fs	WIPF3_ENST00000409123.1_Frame_Shift_Ins_p.P384fs|WIPF3_ENST00000242140.5_Frame_Shift_Ins_p.P384fs	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	384					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						CTGCGAGATCACCTACCACAGA	0.569																																					p.S383fs												.	.	0			c.1149_1150insG	7						.																																			29894259	SO:0001589	frameshift_variant	644150	exon5			AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	Exception_encountered	7.37:g.29927733_29927734insG	ENSP00000386878:p.Pro384fs		29894258	NM_001080529	B8ZZV2	Frame_Shift_Ins	INS	ENST00000409290.1	37	CCDS56472.1																																																																																				0.569	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1		
RAPGEF5	9771	broad.mit.edu	37	7	22190088	22190088	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr7:22190088G>C	ENST00000401957.2	-	8	1159	c.912C>G	c.(910-912)atC>atG	p.I304M	RAPGEF5_ENST00000344041.6_Missense_Mutation_p.I454M			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	304					nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.I456M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						GGGATTTGGAGATGACTAAGT	0.393																																					p.I454M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1362G	7						.						132.0	127.0	129.0					7																	22190088		1849	4085	5934	22156613	SO:0001583	missense	9771	exon18			D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.912C>G	7.37:g.22190088G>C	ENSP00000384044:p.Ile304Met		22156613	NM_012294	A4D140|Q8IXU5	Missense_Mutation	SNP	ENST00000401957.2	37		.	.	.	.	.	.	.	.	.	.	G	14.14	2.446394	0.43429	.	.	ENSG00000136237	ENST00000344041;ENST00000425852;ENST00000401957	T;T	0.56941	0.94;0.43	5.86	3.62	0.41486	Ras guanine nucleotide exchange factor, domain (1);	0.300020	0.42294	N	0.000726	T	0.51550	0.1681	L	0.46157	1.445	0.43808	D	0.996364	P;B	0.39831	0.69;0.108	P;B	0.47891	0.56;0.034	T	0.49579	-0.8925	10	0.59425	D	0.04	.	7.199	0.25871	0.1796:0.1323:0.6881:0.0	.	304;454	Q92565;A8MQ07	RPGF5_HUMAN;.	M	454;306;304	ENSP00000343656:I454M;ENSP00000384044:I304M	ENSP00000343656:I454M	I	-	3	3	RAPGEF5	22156613	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.641000	0.46587	0.628000	0.30357	0.650000	0.86243	ATC		0.393	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	NM_012294	
ANLN	54443	broad.mit.edu	37	7	36489391	36489391	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr7:36489391G>C	ENST00000265748.2	+	23	3417	c.3196G>C	c.(3196-3198)Gaa>Caa	p.E1066Q	ANLN_ENST00000396068.2_Missense_Mutation_p.E1029Q	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	1066	Localization to the cleavage furrow.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.E1066Q(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						ACCACAAAGAGAAGATGACCG	0.398																																					p.E1066Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3196C	7						.						101.0	95.0	97.0					7																	36489391		2203	4300	6503	36455916	SO:0001583	missense	54443	exon23			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.3196G>C	7.37:g.36489391G>C	ENSP00000265748:p.Glu1066Gln		36455916	NM_018685	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	CCDS5447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.753384|4.753384	0.89753|0.89753	.|.	.|.	ENSG00000011426|ENSG00000011426	ENST00000265748;ENST00000396068|ENST00000428612	T;T|.	0.76316|.	-1.01;-1.01|.	5.28|5.28	5.28|5.28	0.74379|0.74379	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.048998|.	0.85682|.	D|.	0.000000|.	T|T	0.69878|0.69878	0.3160|0.3160	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;D|.	0.76494|.	0.999;0.998;0.97;0.976|.	D;D;P;P|.	0.74023|.	0.982;0.959;0.721;0.817|.	T|T	0.69844|0.69844	-0.5035|-0.5035	10|6	0.66056|0.51188	D|T	0.02|0.08	-24.1807|-24.1807	18.2647|18.2647	0.90049|0.90049	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	943;1028;1029;1066|.	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6|.	.;.;.;ANLN_HUMAN|.	Q|T	1066;1029|230	ENSP00000265748:E1066Q;ENSP00000379380:E1029Q|.	ENSP00000265748:E1066Q|ENSP00000413522:R230T	E|R	+|+	1|2	0|0	ANLN|ANLN	36455916|36455916	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.783000|7.783000	0.85696|0.85696	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.398	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685	
TRIM4	89122	broad.mit.edu	37	7	99506213	99506213	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr7:99506213G>C	ENST00000355947.2	-	4	919	c.790C>G	c.(790-792)Ctg>Gtg	p.L264V	TRIM4_ENST00000349062.2_Missense_Mutation_p.L238V|TRIM4_ENST00000354241.5_Missense_Mutation_p.L238V	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	264					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.L264V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				ACCTGAAGCAGCTCCAGGGTG	0.478																																					p.L264V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C790G	7						.						138.0	126.0	130.0					7																	99506213		2203	4300	6503	99344149	SO:0001583	missense	89122	exon4			AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.790C>G	7.37:g.99506213G>C	ENSP00000348216:p.Leu264Val		99344149	NM_033017	A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	ENST00000355947.2	37	CCDS5679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.12|11.12	1.546457|1.546457	0.27652|0.27652	.|.	.|.	ENSG00000146833|ENSG00000146833	ENST00000447480|ENST00000355947;ENST00000349062;ENST00000542799;ENST00000354241	.|T;T;T	.|0.10668	.|2.85;2.85;2.85	2.47|2.47	-2.05|-2.05	0.07321|0.07321	.|.	.|.	.|.	.|.	.|.	T|T	0.30293|0.30293	0.0760|0.0760	M|M	0.86953|0.86953	2.85|2.85	0.09310|0.09310	N|N	1|1	.|D;D;D	.|0.67145	.|0.984;0.996;0.993	.|P;D;D	.|0.72625	.|0.796;0.978;0.952	T|T	0.07501|0.07501	-1.0769|-1.0769	5|9	.|0.66056	.|D	.|0.02	.|.	6.2285|6.2285	0.20722|0.20722	0.6528:0.0:0.3472:0.0|0.6528:0.0:0.3472:0.0	.|.	.|238;238;264	.|Q9C037-3;Q9C037-2;Q9C037	.|.;.;TRIM4_HUMAN	G|V	139|264;238;94;238	.|ENSP00000348216:L264V;ENSP00000275736:L238V;ENSP00000346186:L238V	.|ENSP00000275736:L238V	A|L	-|-	2|1	0|2	TRIM4|TRIM4	99344149|99344149	0.034000|0.034000	0.19679|0.19679	0.002000|0.002000	0.10522|0.10522	0.000000|0.000000	0.00434|0.00434	-0.311000|-0.311000	0.08124|0.08124	-0.447000|-0.447000	0.07138|0.07138	-0.355000|-0.355000	0.07637|0.07637	GCT|CTG		0.478	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017	
TFEC	22797	broad.mit.edu	37	7	115594657	115594657	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr7:115594657delT	ENST00000265440.7	-	5	602	c.422delA	c.(421-423)aagfs	p.K141fs	TFEC_ENST00000457268.1_Frame_Shift_Del_p.K74fs|TFEC_ENST00000393485.1_Frame_Shift_Del_p.K112fs|TFEC_ENST00000484212.1_Frame_Shift_Del_p.K231fs|TFEC_ENST00000320239.7_Frame_Shift_Del_p.K112fs	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	141	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				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.K141fs*42(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GTGGTTGTCCTTTTTTTGTCT	0.333																																					p.K112fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.335delA	7						.						155.0	149.0	151.0					7																	115594657		2202	4299	6501	115381893	SO:0001589	frameshift_variant	22797	exon4			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.422delA	7.37:g.115594657delT	ENSP00000265440:p.Lys141fs		115381893	NM_001018058	B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Frame_Shift_Del	DEL	ENST00000265440.7	37	CCDS5762.1																																																																																				0.333	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252	
TBXAS1	6916	broad.mit.edu	37	7	139661809	139661809	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr7:139661809T>A	ENST00000336425.5	+	13	1300	c.911T>A	c.(910-912)tTc>tAc	p.F304Y	TBXAS1_ENST00000263552.6_Missense_Mutation_p.F305Y|TBXAS1_ENST00000458722.1_Missense_Mutation_p.F350Y|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000448866.1_Missense_Mutation_p.F304Y|TBXAS1_ENST00000436047.2_Missense_Mutation_p.F305Y|TBXAS1_ENST00000414508.2_Missense_Mutation_p.F305Y|TBXAS1_ENST00000425687.1_Missense_Mutation_p.F237Y|TBXAS1_ENST00000416849.2_Missense_Mutation_p.F351Y|TBXAS1_ENST00000411653.1_Missense_Mutation_p.F304Y			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	304					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	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)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	AGAGACGTTTTCTCCTCTACT	0.567																																					p.F305Y												.	.	0			c.T914A	7						.						92.0	80.0	84.0					7																	139661809		2203	4300	6503	139308278	SO:0001583	missense	6916	exon9			L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.911T>A	7.37:g.139661809T>A	ENSP00000338087:p.Phe304Tyr		139308278	NM_001061	B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000336425.5	37		.	.	.	.	.	.	.	.	.	.	T	1.227	-0.625277	0.03610	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.70869	-0.52;-0.47;-0.47;-0.39;-0.47;-0.41;-0.47;-0.4;-0.43	4.76	2.42	0.29668	.	3.608170	0.00597	N	0.000377	T	0.71126	0.3303	L	0.61218	1.895	0.09310	N	1	B;B;P;B;P;P;P	0.40875	0.391;0.391;0.731;0.22;0.46;0.456;0.456	B;B;B;B;B;B;B	0.43838	0.359;0.359;0.29;0.197;0.433;0.275;0.275	T	0.49428	-0.8941	10	0.34782	T	0.22	.	4.0014	0.09582	0.1492:0.2612:0.0:0.5896	.	285;351;256;237;305;305;304	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	Y	237;305;304;351;305;305;304;350;304	ENSP00000388736:F237Y;ENSP00000263552:F305Y;ENSP00000338087:F304Y;ENSP00000389414:F351Y;ENSP00000392361:F305Y;ENSP00000392702:F305Y;ENSP00000402536:F304Y;ENSP00000411274:F350Y;ENSP00000411326:F304Y	ENSP00000263552:F305Y	F	+	2	0	TBXAS1	139308278	0.369000	0.25039	0.012000	0.15200	0.066000	0.16364	0.951000	0.29135	0.436000	0.26393	0.533000	0.62120	TTC		0.567	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1		
USP17L2	377630	broad.mit.edu	37	8	11995019	11995019	+	Silent	SNP	T	T	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr8:11995019T>G	ENST00000333796.3	-	1	1567	c.1251A>C	c.(1249-1251)gcA>gcC	p.A417A	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	417	Mediates interaction with SUDS3.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A417A(1)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CCAACTCGGGTGCCTGGAGGC	0.567																																					p.A417A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1251C	8						.						57.0	62.0	60.0					8																	11995019		1652	3705	5357	12032428	SO:0001819	synonymous_variant	377630	exon1			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.1251A>C	8.37:g.11995019T>G			12032428	NM_201402		Silent	SNP	ENST00000333796.3	37	CCDS43713.1																																																																																				0.567	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402	
SLC30A8	169026	broad.mit.edu	37	8	118159386	118159386	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr8:118159386G>A	ENST00000456015.2	+	2	265	c.265G>A	c.(265-267)Gtc>Atc	p.V89I	SLC30A8_ENST00000519688.1_Missense_Mutation_p.V40I|SLC30A8_ENST00000427715.2_Missense_Mutation_p.V40I|SLC30A8_ENST00000521243.1_Missense_Mutation_p.V40I	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	89					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)			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)			GATTGCAGAGGTCGTGGGTGA	0.418																																					p.V89I	Ovarian(162;1202 1922 6011 16223 52092)											.	.	0			c.G265A	8						.						130.0	109.0	116.0					8																	118159386		2203	4300	6503	118228567	SO:0001583	missense	169026	exon2				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.265G>A	8.37:g.118159386G>A	ENSP00000415011:p.Val89Ile		118228567	NM_173851	A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	G	9.939	1.216848	0.22373	.	.	ENSG00000164756	ENST00000521243;ENST00000524274;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	5.83	5.83	0.93111	.	0.114512	0.56097	D	0.000023	T	0.44932	0.1317	N	0.12471	0.22	0.35986	D	0.836337	B	0.20671	0.047	B	0.28011	0.085	T	0.49771	-0.8904	10	0.20519	T	0.43	-21.2947	13.0013	0.58676	0.0776:0.0:0.9224:0.0	.	89	Q8IWU4	ZNT8_HUMAN	I	40;40;40;40;89	ENSP00000428545:V40I;ENSP00000427760:V40I;ENSP00000407505:V40I;ENSP00000431069:V40I;ENSP00000415011:V89I	ENSP00000407505:V40I	V	+	1	0	SLC30A8	118228567	1.000000	0.71417	0.983000	0.44433	0.963000	0.63663	3.788000	0.55446	2.749000	0.94314	0.655000	0.94253	GTC		0.418	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851	
ZNF572	137209	broad.mit.edu	37	8	125988686	125988686	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr8:125988686G>C	ENST00000319286.5	+	3	330	c.176G>C	c.(175-177)aGa>aCa	p.R59T		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	59					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.R59T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	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)			AAAAGACATAGACCACAACAT	0.373										HNSCC(60;0.17)																											p.R59T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G176C	8						.						78.0	77.0	77.0					8																	125988686		2203	4300	6503	126057867	SO:0001583	missense	137209	exon3			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.176G>C	8.37:g.125988686G>C	ENSP00000319305:p.Arg59Thr		126057867	NM_152412	A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	G	0.843	-0.741276	0.03088	.	.	ENSG00000180938	ENST00000319286	T	0.07327	3.2	4.73	2.84	0.33178	.	0.655352	0.12756	N	0.441764	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.44003	-0.9356	10	0.10111	T	0.7	-0.0366	7.2469	0.26127	0.0934:0.0:0.7343:0.1723	.	59	Q7Z3I7	ZN572_HUMAN	T	59	ENSP00000319305:R59T	ENSP00000319305:R59T	R	+	2	0	ZNF572	126057867	0.000000	0.05858	0.007000	0.13788	0.016000	0.09150	-0.599000	0.05700	2.467000	0.83353	0.561000	0.74099	AGA		0.373	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412	
ANGPT2	285	broad.mit.edu	37	8	6371296	6371296	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr8:6371296G>A	ENST00000325203.5	-	7	1576	c.1102C>T	c.(1102-1104)Cgc>Tgc	p.R368C	ANGPT2_ENST00000523120.1_Missense_Mutation_p.R367C|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Missense_Mutation_p.R316C|ANGPT2_ENST00000415216.1_Missense_Mutation_p.R367C			O15123	ANGP2_HUMAN	angiopoietin 2	368	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)	p.R368C(4)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		AGCACATAGCGTTGCTGATTA	0.363																																					p.R316C												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.C946T	8						.						105.0	106.0	105.0					8																	6371296		2203	4300	6503	6358704	SO:0001583	missense	285	exon6			AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.1102C>T	8.37:g.6371296G>A	ENSP00000314897:p.Arg368Cys		6358704	NM_001118888	A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Missense_Mutation	SNP	ENST00000325203.5	37	CCDS5958.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774366	0.49786	.	.	ENSG00000091879	ENST00000325203;ENST00000415216;ENST00000338312;ENST00000523120	T;T;T;T	0.77229	2.01;2.01;2.01;-1.08	4.77	2.89	0.33648	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.424183	0.26560	N	0.023693	T	0.64193	0.2576	L	0.41632	1.29	0.19945	N	0.999941	P;P;P;P	0.43909	0.821;0.734;0.821;0.734	B;B;B;B	0.36134	0.218;0.189;0.218;0.072	T	0.57906	-0.7730	10	0.59425	D	0.04	.	7.8025	0.29183	0.0:0.1588:0.5142:0.327	.	316;367;367;368	O15123-2;E7EVQ3;O15123-3;O15123	.;.;.;ANGP2_HUMAN	C	368;367;316;367	ENSP00000314897:R368C;ENSP00000400782:R367C;ENSP00000343517:R316C;ENSP00000428023:R367C	ENSP00000314897:R368C	R	-	1	0	ANGPT2	6358704	0.007000	0.16637	0.049000	0.19019	0.945000	0.59286	1.456000	0.35201	0.476000	0.27440	0.557000	0.71058	CGC		0.363	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147	
CLU	1191	broad.mit.edu	37	8	27462591	27462591	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr8:27462591G>A	ENST00000316403.10	-	5	1084	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	CLU_ENST00000405140.3_Missense_Mutation_p.R227C|CLU_ENST00000560366.1_Missense_Mutation_p.R279C|CLU_ENST00000523500.1_Missense_Mutation_p.R227C|CLU_ENST00000546343.1_Missense_Mutation_p.R238C			P10909	CLUS_HUMAN	clusterin	227					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)	p.R279C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		ATCAAGCTGCGGACGATGCGG	0.597																																					p.R238C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C712T	8						.						124.0	117.0	119.0					8																	27462591		2203	4300	6503	27518508	SO:0001583	missense	1191	exon5			M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"""complement lysis inhibitor"", ""sulfated glycoprotein 2"", ""testosterone-repressed prostate message 2"", ""apolipoprotein J"""	185430	"""clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"""	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.679C>T	8.37:g.27462591G>A	ENSP00000315130:p.Arg227Cys		27518508	NM_001171138	B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Missense_Mutation	SNP	ENST00000316403.10	37	CCDS47832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.87|15.87	2.959803|2.959803	0.53400|0.53400	.|.	.|.	ENSG00000120885|ENSG00000120885	ENST00000522098|ENST00000316403;ENST00000546343;ENST00000405140;ENST00000523500;ENST00000380446;ENST00000520012	.|T;T;T	.|0.27402	.|1.67;1.67;1.67	4.66|4.66	2.64|2.64	0.31445|0.31445	.|Clusterin, N-terminal (1);	.|0.061396	.|0.64402	.|D	.|0.000003	T|T	0.52917|0.52917	0.1764|0.1764	M|M	0.81497|0.81497	2.545|2.545	0.27707|0.27707	N|N	0.945586|0.945586	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.998;0.994;1.0	T|T	0.44832|0.44832	-0.9302|-0.9302	5|10	.|0.87932	.|D	.|0	-34.9596|-34.9596	9.1914|9.1914	0.37202|0.37202	0.0:0.0:0.6059:0.3941|0.0:0.0:0.6059:0.3941	.|.	.|92;279;238;227	.|E7ETA7;P10909-2;P10909-5;P10909	.|.;.;.;CLUS_HUMAN	L|C	89|279;238;227;227;52;92	.|ENSP00000446413:R238C;ENSP00000385419:R227C;ENSP00000429620:R227C	.|ENSP00000315130:R279C	P|R	-|-	2|1	0|0	CLU|CLU	27518508|27518508	0.441000|0.441000	0.25626|0.25626	0.037000|0.037000	0.18230|0.18230	0.088000|0.088000	0.18126|0.18126	2.243000|2.243000	0.43115|0.43115	1.036000|1.036000	0.39998|0.39998	0.563000|0.563000	0.77884|0.77884	CCG|CGC		0.597	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831	
IDO1	3620	broad.mit.edu	37	8	39785351	39785351	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr8:39785351C>T	ENST00000518237.1	+	10	1498	c.859C>T	c.(859-861)Cat>Tat	p.H287Y	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.H287Y	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	287					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)	p.H287Y(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	TCCTATAGGACATGCTGCTCA	0.488																																					p.H287Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C859T	8						.						27.0	25.0	26.0					8																	39785351		1987	4167	6154	39904508	SO:0001583	missense	3620	exon10			M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.859C>T	8.37:g.39785351C>T	ENSP00000430950:p.His287Tyr		39904508	NM_002164	Q540B4	Missense_Mutation	SNP	ENST00000518237.1	37	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	C	5.785	0.329151	0.10956	.	.	ENSG00000131203	ENST00000522495;ENST00000518237	T;T	0.41758	0.99;0.99	4.95	-2.45	0.06481	.	1.452800	0.03954	N	0.288918	T	0.23727	0.0574	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.09952	-1.0651	9	.	.	.	0.024	0.8613	0.01194	0.1583:0.2784:0.1635:0.3997	.	287	P14902	I23O1_HUMAN	Y	287	ENSP00000430505:H287Y;ENSP00000430950:H287Y	.	H	+	1	0	IDO1	39904508	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.021000	0.13489	-0.097000	0.12307	-0.440000	0.05779	CAT		0.488	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164	
TOX	9760	broad.mit.edu	37	8	59750748	59750748	+	Silent	SNP	A	A	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr8:59750748A>G	ENST00000361421.1	-	5	1036	c.816T>C	c.(814-816)ttT>ttC	p.F272F		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	272						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F272F(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)				GAGTATCACGAAAGAATAACG	0.473																																					p.F272F	Pancreas(161;610 1969 17913 21374 22725)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T816C	8						.						115.0	114.0	114.0					8																	59750748		2203	4300	6503	59913302	SO:0001819	synonymous_variant	9760	exon5				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.816T>C	8.37:g.59750748A>G			59913302	NM_014729	Q96AV5	Silent	SNP	ENST00000361421.1	37	CCDS34897.1																																																																																				0.473	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729	
CHD7	55636	broad.mit.edu	37	8	61742924	61742924	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr8:61742924G>A	ENST00000423902.2	+	15	4045	c.3566G>A	c.(3565-3567)cGt>cAt	p.R1189H	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1189					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.R1189H(2)		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)			ATGTTGAGACGTCTCAAAGAG	0.353																																					p.R1189H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3566A	8						.						66.0	64.0	65.0					8																	61742924		1820	4082	5902	61905478	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.3566G>A	8.37:g.61742924G>A	ENSP00000392028:p.Arg1189His		61905478	NM_017780	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	33	5.285841	0.95517	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.99961	-9.38	5.47	5.47	0.80525	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99975	0.9992	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97436	1.0018	10	0.87932	D	0	-10.6943	19.6762	0.95934	0.0:0.0:1.0:0.0	.	1189	Q9P2D1	CHD7_HUMAN	H	1189	ENSP00000392028:R1189H	ENSP00000307304:R1189H	R	+	2	0	CHD7	61905478	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.729000	0.93468	0.591000	0.81541	CGT		0.353	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	
FABP12	646486	broad.mit.edu	37	8	82437317	82437317	+	Silent	SNP	G	G	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr8:82437317G>A	ENST00000360464.4	-	4	449	c.387C>T	c.(385-387)taC>taT	p.Y129Y	RP11-257P3.3_ENST00000518637.1_RNA|RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	129	Fatty acid binding. {ECO:0000250}.						lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.Y129Y(1)		large_intestine(1)|lung(3)	4						ATACTTTCTCGTATGTTCGTG	0.318																																					p.Y129Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C387T	8						.						90.0	82.0	84.0					8																	82437317		1848	4097	5945	82599872	SO:0001819	synonymous_variant	646486	exon4				CCDS47882.1	8q21.13	2013-03-01			ENSG00000197416	ENSG00000197416		"""Fatty acid binding protein family"""	34524	protein-coding gene	gene with protein product						18786628	Standard	NM_001105281		Approved		uc011lfp.2	A6NFH5	OTTHUMG00000164679	ENST00000360464.4:c.387C>T	8.37:g.82437317G>A			82599872	NM_001105281	B7SUN0	Silent	SNP	ENST00000360464.4	37	CCDS47882.1																																																																																				0.318	FABP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379720.1	NM_001105281	
CNGB3	54714	broad.mit.edu	37	8	87588276	87588276	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr8:87588276T>A	ENST00000320005.5	-	18	2233	c.2186A>T	c.(2185-2187)gAa>gTa	p.E729V		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	729					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.E729V(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						atcttcattttctttttgttt	0.343																																					p.E729V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2186T	8						.						120.0	125.0	123.0					8																	87588276		2203	4300	6503	87657392	SO:0001583	missense	54714	exon18			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.2186A>T	8.37:g.87588276T>A	ENSP00000316605:p.Glu729Val		87657392	NM_019098	C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	T	4.227	0.041088	0.08196	.	.	ENSG00000170289	ENST00000320005	T	0.61859	0.07	0.637	-0.761	0.11038	.	1.973700	0.02514	U	0.091852	T	0.33702	0.0872	N	0.08118	0	0.09310	N	0.999999	P;B	0.34684	0.463;0.334	B;B	0.31290	0.127;0.06	T	0.13683	-1.0500	10	0.35671	T	0.21	.	3.8905	0.09117	0.0:0.2665:0.0:0.7335	.	724;729	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	V	729	ENSP00000316605:E729V	ENSP00000316605:E729V	E	-	2	0	CNGB3	87657392	1.000000	0.71417	0.003000	0.11579	0.010000	0.07245	1.583000	0.36579	-0.323000	0.08602	-0.456000	0.05471	GAA		0.343	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	
C8orf37	157657	broad.mit.edu	37	8	96259954	96259954	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr8:96259954T>A	ENST00000286688.5	-	6	526	c.515A>T	c.(514-516)aAg>aTg	p.K172M		NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	172						cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.K172M(1)		kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					TCCTTTCTTCTTTATCAACTT	0.398																																					p.K172M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A515T	8						.						174.0	157.0	163.0					8																	96259954		2203	4300	6503	96329130	SO:0001583	missense	157657	exon6			AK055162	CCDS6268.1	8q22.1	2014-01-28			ENSG00000156172	ENSG00000156172			27232	protein-coding gene	gene with protein product		614477				22177090	Standard	NM_177965		Approved	FLJ30600, CORD16, RP64	uc003yho.2	Q96NL8	OTTHUMG00000164663	ENST00000286688.5:c.515A>T	8.37:g.96259954T>A	ENSP00000286688:p.Lys172Met		96329130	NM_177965		Missense_Mutation	SNP	ENST00000286688.5	37	CCDS6268.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.949731	0.53186	.	.	ENSG00000156172	ENST00000286688	D	0.83419	-1.72	5.42	2.98	0.34508	.	0.169978	0.50627	D	0.000105	D	0.85906	0.5806	M	0.69823	2.125	0.31460	N	0.669699	D	0.69078	0.997	P	0.58873	0.847	D	0.84150	0.0422	10	0.87932	D	0	-11.6379	5.4681	0.16654	0.0:0.1483:0.1478:0.7039	.	172	Q96NL8	CH037_HUMAN	M	172	ENSP00000286688:K172M	ENSP00000286688:K172M	K	-	2	0	C8orf37	96329130	1.000000	0.71417	0.489000	0.27452	0.730000	0.41778	2.446000	0.44908	0.352000	0.24053	0.459000	0.35465	AAG		0.398	C8orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379672.1	NM_177965	
POP1	10940	broad.mit.edu	37	8	99140691	99140691	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr8:99140691C>T	ENST00000401707.2	+	4	490	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	POP1_ENST00000349693.3_Missense_Mutation_p.R137W	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	137					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)	p.R137W(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GACTCTGCCACGGCACATGCG	0.483																																					p.R137W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C409T	8						.						87.0	76.0	80.0					8																	99140691		2203	4300	6503	99209867	SO:0001583	missense	10940	exon4			D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.409C>T	8.37:g.99140691C>T	ENSP00000385787:p.Arg137Trp		99209867	NM_001145860	A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679789	0.88542	.	.	ENSG00000104356	ENST00000522319;ENST00000401707;ENST00000349693	T;T;T	0.56275	0.47;0.47;0.47	5.95	4.05	0.47172	Ribonuclease P/MRP, subunit POP1 (1);	0.060604	0.64402	D	0.000005	T	0.70937	0.3281	M	0.79614	2.46	0.49915	D	0.999831	D	0.89917	1.0	D	0.81914	0.995	T	0.75365	-0.3343	10	0.87932	D	0	-12.6015	12.3923	0.55366	0.4345:0.5655:0.0:0.0	.	137	Q99575	POP1_HUMAN	W	137	ENSP00000428945:R137W;ENSP00000385787:R137W;ENSP00000339529:R137W	ENSP00000339529:R137W	R	+	1	2	POP1	99209867	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	5.265000	0.65519	1.500000	0.48636	0.650000	0.86243	CGG		0.483	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029	
TG	7038	broad.mit.edu	37	8	133880412	133880412	+	Silent	SNP	G	G	A	rs368659212		TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr8:133880412G>A	ENST00000220616.4	+	2	160	c.120G>A	c.(118-120)acG>acA	p.T40T	TG_ENST00000377869.1_Silent_p.T40T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	40	Thyroglobulin type-1 1. {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.T40T(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)		AGAGGGAAACGGCCTTTCTGA	0.542																																					p.T40T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G120A	8						.	G		0,4406		0,0,2203	122.0	104.0	111.0		120	3.6	0.4	8		111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TG	NM_003235.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		40/2769	133880412	1,13005	2203	4300	6503	133949594	SO:0001819	synonymous_variant	7038	exon2			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.120G>A	8.37:g.133880412G>A			133949594	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1																																																																																				0.542	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
CYLC2	1539	broad.mit.edu	37	9	105767054	105767054	+	Missense_Mutation	SNP	G	G	T	rs141282812		TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr9:105767054G>T	ENST00000374798.3	+	4	328	c.258G>T	c.(256-258)gaG>gaT	p.E86D	CYLC2_ENST00000487798.1_Missense_Mutation_p.E86D	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	86	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.E86D(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)				GAATTTCTGAGAGACCATCTG	0.388																																					p.E86D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G258T	9						.						79.0	77.0	77.0					9																	105767054		2203	4300	6503	104806875	SO:0001583	missense	1539	exon4			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.258G>T	9.37:g.105767054G>T	ENSP00000420256:p.Glu86Asp		104806875	NM_001340	B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887936	0.52014	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.18810	2.19;2.19	4.53	-2.79	0.05841	.	0.000000	0.43747	D	0.000530	T	0.37019	0.0988	M	0.69823	2.125	0.19775	N	0.999958	D	0.76494	0.999	D	0.73708	0.981	T	0.18147	-1.0346	10	0.62326	D	0.03	-51.4219	9.7263	0.40333	0.591:0.0:0.409:0.0	.	86	Q14093	CYLC2_HUMAN	D	86	ENSP00000420256:E86D;ENSP00000417674:E86D	ENSP00000420256:E86D	E	+	3	2	CYLC2	104806875	0.722000	0.28017	0.109000	0.21407	0.801000	0.45260	-0.546000	0.06062	-0.746000	0.04766	-0.918000	0.02743	GAG		0.388	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340	
ZFP37	7539	broad.mit.edu	37	9	115806463	115806463	+	Silent	SNP	A	A	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr9:115806463A>G	ENST00000374227.3	-	4	462	c.435T>C	c.(433-435)acT>acC	p.T145T	ZFP37_ENST00000555206.1_Silent_p.T146T|ZFP37_ENST00000553380.1_Silent_p.T160T	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	145					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.T145T(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TCTTAGCTTGAGTTTTCTTCT	0.353																																					p.T145T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T435C	9						.						86.0	92.0	90.0					9																	115806463		2198	4281	6479	114846284	SO:0001819	synonymous_variant	7539	exon4			AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.435T>C	9.37:g.115806463A>G			114846284	NM_003408	A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Silent	SNP	ENST00000374227.3	37	CCDS6787.1																																																																																				0.353	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408	
OR5C1	392391	broad.mit.edu	37	9	125551869	125551870	+	Missense_Mutation	DNP	GT	GT	CC			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	GT	GT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr9:125551869_125551870GT>CC	ENST00000373680.2	+	1	720_721	c.658_659GT>CC	c.(658-660)GTg>CCg	p.V220P		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V220>?(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						AGCTATCACGGTGTCTTATGGC	0.599																																					.												.	.	1	Complex(1)	large_intestine(1)	c.658_659CC	9						.																																			124591691	SO:0001583	missense	392391	exon1			AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	Exception_encountered	9.37:g.125551869_125551870delinsCC	ENSP00000362784:p.Val220Pro		124591690	NM_001001923	B2RN54|B9EGT0|Q96RC4	Missense_Mutation	DNP	ENST00000373680.2	37	CCDS35131.1																																																																																				0.599	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1		
PRRC2B	84726	broad.mit.edu	37	9	134353965	134353965	+	Silent	SNP	C	C	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr9:134353965C>T	ENST00000357304.4	+	17	4772	c.4717C>T	c.(4717-4719)Ctg>Ttg	p.L1573L	PRRC2B_ENST00000458550.1_Silent_p.L879L|PRRC2B_ENST00000405995.1_Silent_p.L879L|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1573							poly(A) RNA binding (GO:0044822)	p.L1573L(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GCAGCGCCGCCTGCTGGAGGA	0.632											OREG0019562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L1573L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4717T	9						.						61.0	67.0	65.0					9																	134353965		1877	4106	5983	133343786	SO:0001819	synonymous_variant	84726	exon17			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4717C>T	9.37:g.134353965C>T		1610	133343786	NM_013318	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647769	0.29336	.	.	ENSG00000130723	ENST00000451855	.	.	.	5.42	3.57	0.40892	.	.	.	.	.	T	0.54532	0.1864	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47898	-0.9081	4	.	.	.	-27.2795	5.845	0.18661	0.0:0.5287:0.3017:0.1697	.	.	.	.	L	306	.	.	P	+	2	0	PRRC2B	133343786	0.986000	0.35501	1.000000	0.80357	0.998000	0.95712	1.951000	0.40333	0.656000	0.30886	0.561000	0.74099	CCT		0.632	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CA9	768	broad.mit.edu	37	9	35677795	35677795	+	Silent	SNP	G	G	A	rs372605179		TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr9:35677795G>A	ENST00000378357.4	+	6	953	c.849G>A	c.(847-849)ccG>ccA	p.P283P	CA9_ENST00000493245.1_3'UTR	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	283	Catalytic.				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.P283P(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	AGGAGGGCCCGGAAGAAAACA	0.537																																					p.P283P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G849A	9						.	G		0,4406		0,0,2203	149.0	125.0	133.0		849	-3.4	1.0	9		133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CA9	NM_001216.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		283/460	35677795	1,13005	2203	4300	6503	35667795	SO:0001819	synonymous_variant	768	exon6			X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.849G>A	9.37:g.35677795G>A			35667795	NM_001216	Q5T4R1	Silent	SNP	ENST00000378357.4	37	CCDS6585.1																																																																																				0.537	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216	
ALDH1B1	219	broad.mit.edu	37	9	38395987	38395987	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr9:38395987A>G	ENST00000377698.3	+	2	395	c.242A>G	c.(241-243)aAa>aGa	p.K81R		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	81					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)	p.K81R(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		CGGGCCGTGAAAGCAGCCCGG	0.672																																					p.K81R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A242G	9						.						71.0	72.0	72.0					9																	38395987		2203	4300	6503	38385987	SO:0001583	missense	219	exon2			M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.242A>G	9.37:g.38395987A>G	ENSP00000366927:p.Lys81Arg		38385987	NM_000692	B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180262	0.38511	.	.	ENSG00000137124	ENST00000377698	T	0.15718	2.4	5.61	1.93	0.25924	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.083053	0.48767	N	0.000164	T	0.09024	0.0223	N	0.12502	0.225	0.37041	D	0.89716	B	0.02656	0.0	B	0.12156	0.007	T	0.17107	-1.0380	10	0.46703	T	0.11	.	8.3794	0.32461	0.7652:0.0:0.2348:0.0	.	81	P30837	AL1B1_HUMAN	R	81	ENSP00000366927:K81R	ENSP00000366927:K81R	K	+	2	0	ALDH1B1	38385987	1.000000	0.71417	0.983000	0.44433	0.881000	0.50899	3.195000	0.51013	0.081000	0.16988	0.533000	0.62120	AAA		0.672	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1		
SPATA31E1	286234	broad.mit.edu	37	9	90502169	90502169	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr9:90502169C>T	ENST00000325643.5	+	4	2833	c.2767C>T	c.(2767-2769)Cca>Tca	p.P923S		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	923					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCTCGCTGCCCCACCGCCTGA	0.602																																					p.P923S												.	.	0			c.C2767T	9						.						47.0	50.0	49.0					9																	90502169		2203	4299	6502	89691989	SO:0001583	missense	286234	exon4			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2767C>T	9.37:g.90502169C>T	ENSP00000322640:p.Pro923Ser		89691989	NM_178828	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	c	3.070	-0.191342	0.06299	.	.	ENSG00000177992	ENST00000325643	T	0.02916	4.11	1.85	-1.39	0.08997	.	1.184290	0.06426	N	0.723251	T	0.02418	0.0074	L	0.31578	0.945	0.09310	N	1	P	0.42785	0.79	P	0.44394	0.448	T	0.31943	-0.9925	10	0.07644	T	0.81	.	2.1548	0.03809	0.1849:0.4874:0.1873:0.1403	.	923	Q6ZUB1	CI079_HUMAN	S	923	ENSP00000322640:P923S	ENSP00000322640:P923S	P	+	1	0	C9orf79	89691989	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.400000	0.07241	-0.914000	0.03827	-1.351000	0.01236	CCA		0.602	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828	
RABL6	55684	broad.mit.edu	37	9	139718036	139718036	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chr9:139718036C>A	ENST00000311502.7	+	2	426	c.190C>A	c.(190-192)Cag>Aag	p.Q64K	RABL6_ENST00000371675.3_5'Flank|RABL6_ENST00000357466.2_Missense_Mutation_p.Q64K|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000432842.2_Missense_Mutation_p.Q26K|RABL6_ENST00000371663.4_Missense_Mutation_p.Q64K|RABL6_ENST00000371671.4_Missense_Mutation_p.Q64K			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	64	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										GCACCGCCTGCAGGGCCGGCC	0.572																																					p.Q64K												.	.	0			c.C190A	9						.						37.0	44.0	42.0					9																	139718036		2014	4170	6184	138837857	SO:0001583	missense	55684	exon2			AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.190C>A	9.37:g.139718036C>A	ENSP00000311134:p.Gln64Lys		138837857	NM_001173989	A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	ENST00000311502.7	37	CCDS48058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.82|18.82	3.704301|3.704301	0.68615|0.68615	.|.	.|.	ENSG00000196642|ENSG00000196642	ENST00000436380|ENST00000371673;ENST00000371663;ENST00000371671;ENST00000311502;ENST00000357466;ENST00000432842	.|T;T;T;T;T	.|0.66099	.|-0.19;-0.19;-0.19;-0.19;-0.19	4.21|4.21	4.21|4.21	0.49690|0.49690	.|Mitochondrial Rho-like (1);	.|0.000000	.|0.64402	.|U	.|0.000003	T|T	0.70185|0.70185	0.3195|0.3195	L|L	0.38649|0.38649	1.16|1.16	0.80722|0.80722	D|D	1|1	.|P;P;D;D;B	.|0.69078	.|0.872;0.747;0.996;0.997;0.387	.|P;P;D;D;B	.|0.79108	.|0.842;0.679;0.987;0.992;0.289	T|T	0.72246|0.72246	-0.4349|-0.4349	5|10	.|0.49607	.|T	.|0.09	-24.8223|-24.8223	15.1275|15.1275	0.72494|0.72494	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|64;64;64;64;64	.|A8QVZ8;C6K8I5;Q3YEC7-2;Q3YEC7;C6K8I4	.|.;.;.;PARF_HUMAN;.	E|K	20|64;64;64;64;64;26	.|ENSP00000360727:Q64K;ENSP00000360736:Q64K;ENSP00000311134:Q64K;ENSP00000350056:Q64K;ENSP00000414081:Q26K	.|ENSP00000311134:Q64K	A|Q	+|+	2|1	0|0	C9orf86|C9orf86	138837857|138837857	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	7.306000|7.306000	0.78905|0.78905	1.876000|1.876000	0.54355|0.54355	0.313000|0.313000	0.20887|0.20887	GCA|CAG		0.572	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718	
IL1RAPL2	26280	broad.mit.edu	37	X	105011533	105011533	+	Missense_Mutation	SNP	C	C	T	rs367966545		TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chrX:105011533C>T	ENST00000372582.1	+	11	2696	c.1940C>T	c.(1939-1941)aCg>aTg	p.T647M	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.T647M	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	647					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.T647M(2)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGCCTCTGACGCTACTCAAC	0.468																																					p.T647M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1940T	X						.						131.0	131.0	131.0					X																	105011533		2203	4300	6503	104898189	SO:0001583	missense	26280	exon11			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1940C>T	X.37:g.105011533C>T	ENSP00000361663:p.Thr647Met		104898189	NM_017416	Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803705	0.50315	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.07216	3.5;3.5;3.21	5.83	4.96	0.65561	.	0.155567	0.45867	D	0.000330	T	0.12518	0.0304	M	0.71581	2.175	0.54753	D	0.999987	P	0.42337	0.776	B	0.36885	0.235	T	0.01578	-1.1320	10	0.87932	D	0	.	14.3304	0.66553	0.1491:0.8509:0.0:0.0	.	647	Q9NP60	IRPL2_HUMAN	M	647;647;252	ENSP00000361663:T647M;ENSP00000344976:T647M;ENSP00000445576:T252M	ENSP00000344976:T647M	T	+	2	0	IL1RAPL2	104898189	0.998000	0.40836	0.779000	0.31741	0.899000	0.52679	3.749000	0.55150	1.185000	0.42971	0.600000	0.82982	ACG		0.468	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416	
COL4A6	1288	broad.mit.edu	37	X	107422668	107422669	+	Splice_Site	DNP	CC	CC	AA			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	CC	CC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chrX:107422668_107422669CC>AA	ENST00000372216.4	-	26	2235	c.2135_2135GG>TT	c.(2134-2136)gGGg>gTTgg	p.G712V	COL4A6_ENST00000334504.7_Splice_Site_p.G711V|COL4A6_ENST00000394872.2_Splice_Site_p.G712V|COL4A6_ENST00000545689.1_Splice_Site_p.G711V|COL4A6_ENST00000538570.1_Splice_Site_p.G711V	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	712	Triple-helical region.				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)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCAGGAAATCCTAAACGTAAA	0.465									Alport syndrome with Diffuse Leiomyomatosis																												.	Melanoma(87;1895 1945 2589 7165)											.	.	1	Unknown(1)	large_intestine(1)	c.2132_2132TT	X						.																																			107309325	SO:0001630	splice_region_variant	1288	exon26	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2135_2135delinsAA	X.37:g.107422668_107422669delinsAA			107309324	NM_033641	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Splice_Site	DNP	ENST00000372216.4	37	CCDS14541.1																																																																																				0.465	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		Missense_Mutation
COL4A6	1288	broad.mit.edu	37	X	107462935	107462935	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chrX:107462935C>A	ENST00000372216.4	-	5	420	c.320G>T	c.(319-321)gGg>gTg	p.G107V	COL4A6_ENST00000334504.7_Missense_Mutation_p.G106V|COL4A6_ENST00000394872.2_Intron|COL4A6_ENST00000545689.1_Missense_Mutation_p.G106V|COL4A6_ENST00000538570.1_Missense_Mutation_p.G106V	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	107	Triple-helical region.				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)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.G106V(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CACCGGAATCCCATTGATGCC	0.443									Alport syndrome with Diffuse Leiomyomatosis																												p.G106V	Melanoma(87;1895 1945 2589 7165)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G317T	X						.						194.0	170.0	178.0					X																	107462935		2203	4300	6503	107349591	SO:0001583	missense	1288	exon5	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.320G>T	X.37:g.107462935C>A	ENSP00000361290:p.Gly107Val		107349591	NM_033641	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160999	0.38119	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D	0.99637	-5.77;-5.77;-5.77;-6.29	4.93	4.93	0.64822	.	.	.	.	.	D	0.99799	0.9914	H	0.98577	4.27	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	0.96807	0.9594	9	0.87932	D	0	.	14.6435	0.68742	0.0:1.0:0.0:0.0	.	106;106;107;106	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	V	107;106;106;106;106	ENSP00000361290:G107V;ENSP00000334733:G106V;ENSP00000443707:G106V;ENSP00000445236:G106V	ENSP00000334733:G106V	G	-	2	0	COL4A6	107349591	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.196000	0.65136	2.364000	0.80123	0.513000	0.50165	GGG		0.443	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		
ZCCHC12	170261	broad.mit.edu	37	X	117960137	117960137	+	Silent	SNP	C	C	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chrX:117960137C>G	ENST00000310164.2	+	4	1437	c.930C>G	c.(928-930)tcC>tcG	p.S310S		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	310					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S310S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						TCATTGATTCCCCCCACAATT	0.562																																					p.S310S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C930G	X						.						115.0	102.0	106.0					X																	117960137		2203	4300	6503	117844165	SO:0001819	synonymous_variant	170261	exon4			AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.930C>G	X.37:g.117960137C>G			117844165	NM_173798	B3KV48|Q6PID5|Q8N1C1	Silent	SNP	ENST00000310164.2	37	CCDS14574.1																																																																																				0.562	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798	
NLGN4X	57502	broad.mit.edu	37	X	5811432	5811432	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chrX:5811432C>T	ENST00000381095.3	-	6	2504	c.1877G>A	c.(1876-1878)cGg>cAg	p.R626Q	NLGN4X_ENST00000275857.6_Missense_Mutation_p.R626Q|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R646Q|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R626Q|NLGN4X_ENST00000381092.1_Missense_Mutation_p.R626Q	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	626					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.R626Q(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGGAGATCGCCGGGTGCCATA	0.502																																					p.R626Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1877A	X						.						122.0	110.0	114.0					X																	5811432		2202	4280	6482	5821432	SO:0001583	missense	57502	exon6			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1877G>A	X.37:g.5811432C>T	ENSP00000370485:p.Arg626Gln		5821432	NM_020742	Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	C	8.648	0.897636	0.17686	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	4.0	4.0	0.46444	.	0.237850	0.22028	N	0.065632	T	0.56396	0.1982	L	0.55481	1.735	0.37928	D	0.931904	B;P;B	0.46656	0.143;0.882;0.224	B;B;B	0.38683	0.018;0.279;0.04	T	0.66917	-0.5802	10	0.52906	T	0.07	.	14.5537	0.68086	0.0:1.0:0.0:0.0	.	683;626;646	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	Q	626;646;626;626;626	ENSP00000370485:R626Q;ENSP00000370483:R646Q;ENSP00000275857:R626Q;ENSP00000370482:R626Q;ENSP00000439203:R626Q	ENSP00000275857:R626Q	R	-	2	0	NLGN4X	5821432	1.000000	0.71417	0.040000	0.18447	0.004000	0.04260	4.492000	0.60334	1.594000	0.50039	0.513000	0.50165	CGG		0.502	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742	
PDHA1	5160	broad.mit.edu	37	X	19369486	19369486	+	Missense_Mutation	SNP	C	C	T	rs199959402		TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chrX:19369486C>T	ENST00000422285.2	+	4	484	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	PDHA1_ENST00000379806.5_Missense_Mutation_p.R165W|PDHA1_ENST00000379805.3_Missense_Mutation_p.R127W|PDHA1_ENST00000540249.1_Missense_Mutation_p.R127W|PDHA1_ENST00000545074.1_Missense_Mutation_p.R134W			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	127					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)	p.R127W(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					TACTTTCACCCGGGGCCTTTC	0.498													c|||	1	0.000264901	0.0008	0.0	3775	,	,		11619	0.0		0.0	False		,,,				2504	0.0				p.R165W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C493T	X	GRCh37	CM941151	PDHA1	M		.						101.0	96.0	98.0					X																	19369486		2203	4300	6503	19279407	SO:0001583	missense	5160	exon5				CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.379C>T	X.37:g.19369486C>T	ENSP00000394382:p.Arg127Trp		19279407	NM_001173454	A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	CCDS14192.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	18.39	3.612770	0.66672	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000422285;ENST00000355808;ENST00000379805	D;D;D;D;D;D;D	0.97553	-4.02;-4.02;-4.43;-4.02;-4.02;-4.02;-4.02	5.54	4.68	0.58851	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98607	0.9534	M	0.90595	3.13	0.58432	D	0.999996	B;D;D;P;D	0.89917	0.306;1.0;1.0;0.62;1.0	B;D;D;B;D	0.81914	0.16;0.993;0.995;0.438;0.993	D	0.99194	1.0871	10	0.62326	D	0.03	-9.76	15.3728	0.74581	0.1405:0.8594:0.0:0.0	.	127;134;127;165;127	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	W	165;134;127;165;127;134;127	ENSP00000369134:R165W;ENSP00000438550:R134W;ENSP00000440761:R127W;ENSP00000406473:R165W;ENSP00000394382:R127W;ENSP00000348062:R134W;ENSP00000369133:R127W	ENSP00000348062:R134W	R	+	1	2	PDHA1	19279407	0.960000	0.32886	0.998000	0.56505	0.920000	0.55202	2.227000	0.42972	1.249000	0.43950	-0.253000	0.11424	CGG		0.498	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1		
CHDC2	286464	broad.mit.edu	37	X	36103478	36103478	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chrX:36103478A>T	ENST00000313548.4	+	5	650	c.464A>T	c.(463-465)aAg>aTg	p.K155M		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	155						integral component of membrane (GO:0016021)		p.K155M(1)									CCACCCCAAAAGTTTTCCAGA	0.338																																					p.K155M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A464T	X						.						87.0	85.0	86.0					X																	36103478		2202	4300	6502	36013399	SO:0001583	missense	286464	exon5			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.464A>T	X.37:g.36103478A>T	ENSP00000324767:p.Lys155Met		36013399	NM_173695		Missense_Mutation	SNP	ENST00000313548.4	37	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.841168	0.51057	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.52	5.52	0.82312	.	0.347109	0.23173	N	0.051113	T	0.45836	0.1362	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	P	0.61800	0.894	T	0.39418	-0.9615	9	0.72032	D	0.01	-11.3291	10.8771	0.46917	1.0:0.0:0.0:0.0	.	155	Q8N9S7	CX059_HUMAN	M	155	.	ENSP00000324767:K155M	K	+	2	0	CXorf59	36013399	0.984000	0.35163	0.030000	0.17652	0.005000	0.04900	2.942000	0.49018	1.839000	0.53478	0.486000	0.48141	AAG		0.338	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695	
MED12	9968	broad.mit.edu	37	X	70348244	70348244	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chrX:70348244C>G	ENST00000374080.3	+	23	3340	c.3308C>G	c.(3307-3309)tCt>tGt	p.S1103C	MED12_ENST00000333646.6_Missense_Mutation_p.S1103C|MED12_ENST00000374102.1_Missense_Mutation_p.S1103C			Q93074	MED12_HUMAN	mediator complex subunit 12	1103					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.S1103C(2)		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)					TGCTGCTCCTCTAACAATGGC	0.537			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																														p.S1103C			Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3308G	X						.						143.0	132.0	135.0					X																	70348244		2133	4239	6372	70264969	SO:0001583	missense	9968	exon23			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.3308C>G	X.37:g.70348244C>G	ENSP00000363193:p.Ser1103Cys		70264969	NM_005120	O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	21.4	4.144274	0.77888	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	M	0.67953	2.075	0.80722	D	1	D;P;D;D	0.89917	1.0;0.918;0.987;1.0	D;P;P;D	0.91635	0.999;0.626;0.882;0.998	T	0.59653	-0.7414	10	0.72032	D	0.01	-14.2117	17.1584	0.86797	0.0:1.0:0.0:0.0	.	1103;950;1103;1103	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	C	1103;1103;1103;1103;1071	ENSP00000333125:S1103C;ENSP00000363215:S1103C;ENSP00000363193:S1103C;ENSP00000414203:S1071C	ENSP00000333125:S1103C	S	+	2	0	MED12	70264969	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.103000	0.77014	2.318000	0.78349	0.597000	0.82753	TCT		0.537	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	
SLITRK2	84631	broad.mit.edu	37	X	144905001	144905001	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01K-01A-01W-A00E-09	TCGA-AA-A01K-10A-01W-A00E-09	g.chrX:144905001A>C	ENST00000370490.1	+	1	5313	c.1058A>C	c.(1057-1059)aAt>aCt	p.N353T	SLITRK2_ENST00000434188.2_Missense_Mutation_p.N353T|SLITRK2_ENST00000428560.2_Missense_Mutation_p.N353T|SLITRK2_ENST00000447897.2_Missense_Mutation_p.N353T|SLITRK2_ENST00000413937.2_Missense_Mutation_p.N353T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	353	LRRNT.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				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)					AGCTCAGACAATGGTCTGAAT	0.493																																					p.N353T												.	.	0			c.A1058C	X						.						68.0	62.0	64.0					X																	144905001		2203	4300	6503	144712693	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.1058A>C	X.37:g.144905001A>C	ENSP00000359521:p.Asn353Thr		144712693	NM_001144006	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.909994	0.33721	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51	5.67	5.67	0.87782	Leucine-rich repeat-containing N-terminal (1);	0.050152	0.85682	D	0.000000	T	0.37517	0.1006	L	0.36672	1.1	0.38010	D	0.934497	B	0.14805	0.011	B	0.15870	0.014	T	0.32955	-0.9887	10	0.12766	T	0.61	-10.2677	7.436	0.27156	0.9036:0.0:0.0964:0.0	.	353	Q9H156	SLIK2_HUMAN	T	353	ENSP00000334374:N353T;ENSP00000411681:N353T;ENSP00000359521:N353T;ENSP00000397015:N353T;ENSP00000407347:N353T;ENSP00000412010:N353T	ENSP00000334374:N353T	N	+	2	0	SLITRK2	144712693	0.998000	0.40836	0.898000	0.35279	0.963000	0.63663	3.298000	0.51818	1.891000	0.54761	0.486000	0.48141	AAT		0.493	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
