#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
FAM178A	55719	broad.mit.edu	37	10	102676523	102676523	+	Silent	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:102676523T>C	ENST00000238961.4	+	3	923	c.381T>C	c.(379-381)ggT>ggC	p.G127G	FAM178A_ENST00000370271.3_Silent_p.G127G|FAM178A_ENST00000370269.3_Silent_p.G127G	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	127						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.G127G(1)									AAGATCATGGTATACATGAGT	0.413																																					p.G127G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T381C	10						.						87.0	81.0	83.0					10																	102676523		2203	4300	6503	102666513	SO:0001819	synonymous_variant	55719	exon3			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.381T>C	10.37:g.102676523T>C			102666513	NM_018121	A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Silent	SNP	ENST00000238961.4	37	CCDS7500.1																																																																																				0.413	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3		
TLX1NB	100038246	broad.mit.edu	37	10	102849560	102849560	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:102849560C>A	ENST00000445873.1	-	3	1379	c.103G>T	c.(103-105)Gag>Tag	p.E35*	TLX1NB_ENST00000425505.1_5'Flank	NM_001085398.1	NP_001078867.1	P0CAT3	TLXNB_HUMAN	TLX1 neighbor	35																	GGAGTAGGCTCTGCCCCCTCC	0.657																																					p.E35X												.	.	0			c.G103T	10						.						12.0	15.0	14.0					10																	102849560		1875	4095	5970	102839550	SO:0001587	stop_gained	100038246	exon3			BC019674	CCDS60615.1	10q24	2014-04-01			ENSG00000236311	ENSG00000236311			37183	protein-coding gene	gene with protein product		612734				17303350	Standard	NM_001085398		Approved	TD1, TDI, APT-B7	uc001ksv.3	P0CAT3	OTTHUMG00000018925	ENST00000445873.1:c.103G>T	10.37:g.102849560C>A	ENSP00000475001:p.Glu35*		102839550	NM_001085398		Nonsense_Mutation	SNP	ENST00000445873.1	37																																																																																					0.657	TLX1NB-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000049925.2	NM_001085398	
FBXW4	6468	broad.mit.edu	37	10	103371405	103371405	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:103371405G>A	ENST00000331272.7	-	8	1717	c.1099C>T	c.(1099-1101)Cgt>Tgt	p.R367C	FBXW4_ENST00000470093.1_5'UTR	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	367					cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)		p.R367C(1)		breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		GCCCTTTGACGCCGGTCCCAC	0.602																																					p.R367C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1099T	10						.						104.0	91.0	95.0					10																	103371405		2203	4300	6503	103361395	SO:0001583	missense	6468	exon8			AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	10847	protein-coding gene	gene with protein product		608071	"""split hand/foot malformation (ectrodactyly) type 3"", ""F-box and WD-40 domain protein 4"""	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.1099C>T	10.37:g.103371405G>A	ENSP00000359149:p.Arg367Cys		103361395	NM_022039	Q5SVS1|Q96IM6	Missense_Mutation	SNP	ENST00000331272.7	37	CCDS31271.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673908	0.88445	.	.	ENSG00000107829	ENST00000331272;ENST00000389046	T	0.21361	2.01	5.57	5.57	0.84162	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.59280	0.2182	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.69423	-0.5149	10	0.87932	D	0	-17.364	19.5577	0.95358	0.0:0.0:1.0:0.0	.	367	P57775	FBXW4_HUMAN	C	367	ENSP00000359149:R367C	ENSP00000359149:R367C	R	-	1	0	FBXW4	103361395	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.251000	0.78297	2.618000	0.88619	0.561000	0.74099	CGT		0.602	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049979.2	NM_022039	
NOLC1	9221	broad.mit.edu	37	10	103921993	103921993	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:103921993C>T	ENST00000605788.1	+	13	2302	c.2067C>T	c.(2065-2067)gtC>gtT	p.V689V	NOLC1_ENST00000477977.1_Intron|NOLC1_ENST00000488254.2_Silent_p.V690V|NOLC1_ENST00000405356.1_Silent_p.V699V|NOLC1_ENST00000603742.1_Silent_p.V408V	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	689					cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)	p.V689V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CAATCTCTGTCCAGGTCAATT	0.507																																					p.V689V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2067T	10						.						136.0	152.0	147.0					10																	103921993		2203	4300	6503	103911983	SO:0001819	synonymous_variant	9221	exon13			Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.2067C>T	10.37:g.103921993C>T			103911983	NM_004741	Q15030|Q5VV70|Q9BUV3	Silent	SNP	ENST00000605788.1	37	CCDS7530.1																																																																																				0.507	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741	
PSD	5662	broad.mit.edu	37	10	104165232	104165232	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:104165232T>C	ENST00000020673.5	-	12	2723	c.2197A>G	c.(2197-2199)Aag>Gag	p.K733E	PSD_ENST00000406432.1_Missense_Mutation_p.K733E	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	733					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)	p.K733E(1)|p.K518E(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CTGATCCGCTTGATGACCTTG	0.647																																					p.K733E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2197G	10						.						57.0	55.0	56.0					10																	104165232		2203	4300	6503	104155222	SO:0001583	missense	5662	exon12			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2197A>G	10.37:g.104165232T>C	ENSP00000020673:p.Lys733Glu		104155222	NM_002779	B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.370049	0.82573	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.19532	2.14;2.14	4.21	4.21	0.49690	.	0.284575	0.31312	N	0.007862	T	0.27663	0.0680	L	0.43152	1.355	0.44627	D	0.997607	P;P	0.50943	0.882;0.94	P;P	0.52267	0.594;0.694	T	0.01604	-1.1314	10	0.31617	T	0.26	.	13.4463	0.61142	0.0:0.0:0.0:1.0	.	733;636	A5PKW4;Q86YI3	PSD1_HUMAN;.	E	733;636;733	ENSP00000020673:K733E;ENSP00000384830:K733E	ENSP00000020673:K733E	K	-	1	0	PSD	104155222	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.859000	0.55987	1.769000	0.52152	0.459000	0.35465	AAG		0.647	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2		
SLK	9748	broad.mit.edu	37	10	105761238	105761238	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:105761238C>T	ENST00000369755.3	+	8	1446	c.901C>T	c.(901-903)Cga>Tga	p.R301*	SLK_ENST00000335753.4_Nonsense_Mutation_p.R301*	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	301					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.R301*(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CAAACCCATCCGAGAATTGAT	0.383																																					p.R301X	NSCLC(111;540 1651 1927 4474 17706)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C901T	10						.						96.0	84.0	88.0					10																	105761238		2203	4300	6503	105751228	SO:0001587	stop_gained	9748	exon8				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.901C>T	10.37:g.105761238C>T	ENSP00000358770:p.Arg301*		105751228	NM_014720	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Nonsense_Mutation	SNP	ENST00000369755.3	37	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	C	42	9.229957	0.99108	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	.	.	.	5.33	4.4	0.53042	.	0.061993	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5774	0.61883	0.3388:0.6612:0.0:0.0	.	.	.	.	X	301	.	ENSP00000336824:R301X	R	+	1	2	SLK	105751228	0.995000	0.38212	0.975000	0.42487	0.961000	0.63080	2.154000	0.42291	1.332000	0.45431	0.462000	0.41574	CGA		0.383	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720	
SLK	9748	broad.mit.edu	37	10	105768031	105768031	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:105768031C>T	ENST00000369755.3	+	12	3246	c.2701C>T	c.(2701-2703)Cga>Tga	p.R901*	SLK_ENST00000335753.4_Nonsense_Mutation_p.R901*|SLK_ENST00000474260.1_3'UTR	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	901	UVR. {ECO:0000255|PROSITE- ProRule:PRU00217}.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.R901*(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AAATCGCTTGCGAGATGAAGC	0.408																																					p.R901X	NSCLC(111;540 1651 1927 4474 17706)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2701T	10						.						105.0	105.0	105.0					10																	105768031		2203	4300	6503	105758021	SO:0001587	stop_gained	9748	exon12				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.2701C>T	10.37:g.105768031C>T	ENSP00000358770:p.Arg901*		105758021	NM_014720	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Nonsense_Mutation	SNP	ENST00000369755.3	37	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	C	45	11.456813	0.99563	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	.	.	.	5.94	2.99	0.34606	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7297	0.69372	0.5177:0.4823:0.0:0.0	.	.	.	.	X	901	.	ENSP00000336824:R901X	R	+	1	2	SLK	105758021	0.041000	0.20044	0.974000	0.42286	0.496000	0.33645	0.151000	0.16283	0.360000	0.24265	-0.188000	0.12872	CGA		0.408	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720	
CFAP43	80217	broad.mit.edu	37	10	105905244	105905244	+	Missense_Mutation	SNP	G	G	A	rs201811267		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:105905244G>A	ENST00000357060.3	-	31	4049	c.3934C>T	c.(3934-3936)Cgc>Tgc	p.R1312C	WDR96_ENST00000428666.1_Missense_Mutation_p.R1284C	NM_025145.5	NP_079421.5												p.R1312C(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						CTTGGTCGGCGTTTAAAAAGT	0.348													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17072	0.0		0.0	False		,,,				2504	0.0				p.R1312C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3934T	10						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	58.0	58.0	58.0		3934	5.6	1.0	10		58	0,8600		0,0,4300	no	missense	WDR96	NM_025145.5	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1312/1666	105905244	1,13005	2203	4300	6503	105895234	SO:0001583	missense	80217	exon31																														ENST00000357060.3:c.3934C>T	10.37:g.105905244G>A	ENSP00000349568:p.Arg1312Cys		105895234	NM_025145		Missense_Mutation	SNP	ENST00000357060.3	37	CCDS31281.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	23.3	4.397863	0.83120	2.27E-4	0.0	ENSG00000197748	ENST00000357060;ENST00000428666	T;T	0.20598	2.06;2.17	5.57	5.57	0.84162	.	0.107642	0.64402	D	0.000004	T	0.40595	0.1123	M	0.69248	2.105	0.80722	D	1	D;D	0.61080	0.989;0.986	P;P	0.55508	0.777;0.721	T	0.12708	-1.0537	10	0.52906	T	0.07	.	18.3159	0.90221	0.0:0.0:1.0:0.0	.	1284;1312	G5E9L1;Q8NDM7	.;WDR96_HUMAN	C	1312;1284	ENSP00000349568:R1312C;ENSP00000400289:R1284C	ENSP00000349568:R1312C	R	-	1	0	WDR96	105895234	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.559000	0.67326	2.628000	0.89032	0.655000	0.94253	CGC		0.348	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
SORCS1	114815	broad.mit.edu	37	10	108923927	108923927	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:108923927G>A	ENST00000263054.6	-	1	365	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	SORCS1_ENST00000344440.6_Missense_Mutation_p.R120W	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	120					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.R120W(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCCTCTCCCCGTTCTGCCTTC	0.701																																					p.R120W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C358T	10						.						37.0	37.0	37.0					10																	108923927		2203	4299	6502	108913917	SO:0001583	missense	114815	exon1			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.358C>T	10.37:g.108923927G>A	ENSP00000263054:p.Arg120Trp		108913917	NM_052918	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	5.418	0.262363	0.10294	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.19105	2.17;2.18	4.43	0.109	0.14578	.	1.058870	0.07503	N	0.907533	T	0.09158	0.0226	N	0.08118	0	0.09310	N	1	P;P;P;P;P	0.44281	0.74;0.831;0.831;0.74;0.831	B;B;B;B;B	0.36186	0.131;0.219;0.219;0.109;0.219	T	0.26985	-1.0087	9	.	.	.	2.9447	7.4878	0.27443	0.0:0.2841:0.281:0.435	.	120;120;120;120;120	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	W	120	ENSP00000263054:R120W;ENSP00000345964:R120W	.	R	-	1	2	SORCS1	108913917	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-0.115000	0.10741	-0.155000	0.11098	0.655000	0.94253	CGG		0.701	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
SMC3	9126	broad.mit.edu	37	10	112350788	112350788	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:112350788G>A	ENST00000361804.4	+	17	1836	c.1710G>A	c.(1708-1710)acG>acA	p.T570T		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	570	Flexible hinge.				DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.T570T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAGTCAGCACGAAGATTTTAA	0.363																																					p.T570T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1710A	10						.						104.0	103.0	104.0					10																	112350788		2203	4300	6503	112340778	SO:0001819	synonymous_variant	9126	exon17			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1710G>A	10.37:g.112350788G>A			112340778	NM_005445	A8K156|O60464|Q5T482	Silent	SNP	ENST00000361804.4	37	CCDS31285.1																																																																																				0.363	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445	
SHOC2	8036	broad.mit.edu	37	10	112769048	112769048	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:112769048G>A	ENST00000369452.4	+	7	1672	c.1327G>A	c.(1327-1329)Ggt>Agt	p.G443S	SHOC2_ENST00000489390.1_3'UTR|SHOC2_ENST00000265277.5_Missense_Mutation_p.G397S	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	443					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)	p.G443S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GCTTCCCCATGGTCTTGGAAA	0.313																																					p.G443S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1327A	10						.						47.0	50.0	49.0					10																	112769048		2201	4294	6495	112759038	SO:0001583	missense	8036	exon7			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.1327G>A	10.37:g.112769048G>A	ENSP00000358464:p.Gly443Ser		112759038	NM_007373	A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	ENST00000369452.4	37	CCDS7568.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173225	0.57584	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;T	0.16324	2.35;2.35;2.35	5.92	5.92	0.95590	.	0.087086	0.85682	N	0.000000	T	0.14270	0.0345	N	0.00815	-1.16	0.80722	D	1	D;B	0.89917	1.0;0.089	D;B	0.83275	0.996;0.054	T	0.36480	-0.9746	10	0.02654	T	1	.	20.3671	0.98886	0.0:0.0:1.0:0.0	.	397;443	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	S	397;443;233	ENSP00000265277:G397S;ENSP00000358464:G443S;ENSP00000408275:G233S	ENSP00000265277:G397S	G	+	1	0	SHOC2	112759038	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.540000	0.98080	2.822000	0.97130	0.644000	0.83932	GGT		0.313	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373	
TCF7L2	6934	broad.mit.edu	37	10	114925715	114925715	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:114925715C>A	ENST00000355995.4	+	15	2351	c.1844C>A	c.(1843-1845)aCc>aAc	p.T615N	TCF7L2_ENST00000536810.1_Missense_Mutation_p.T598N|TCF7L2_ENST00000543371.1_Missense_Mutation_p.T598N|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000542695.1_Missense_Mutation_p.T331N|TCF7L2_ENST00000545257.1_Missense_Mutation_p.T615N|TCF7L2_ENST00000369397.4_Missense_Mutation_p.T592N|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000538897.1_3'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	615					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.T592N(1)|p.T598N(1)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TCGCTCGTCACCAAGTCTTTA	0.547			T	VTI1A	colorectal																																p.T575N			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1724A	10						.						44.0	48.0	47.0					10																	114925715		2202	4300	6502	114915705	SO:0001583	missense	6934	exon13			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1844C>A	10.37:g.114925715C>A	ENSP00000348274:p.Thr615Asn		114915705	NM_001146285	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37		.	.	.	.	.	.	.	.	.	.	C	17.14	3.314529	0.60524	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000369397;ENST00000542695	D;D;D;D;D;D	0.99511	-5.87;-5.89;-5.7;-5.73;-5.87;-6.05	5.53	5.53	0.82687	.	0.068243	0.56097	D	0.000034	D	0.99390	0.9785	L	0.58101	1.795	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.993;0.998;0.997;0.999;0.999;1.0;0.999	D;D;D;D;D;D;D	0.83275	0.977;0.987;0.989;0.991;0.991;0.996;0.991	D	0.99636	1.0987	10	0.87932	D	0	-13.3199	19.4549	0.94884	0.0:1.0:0.0:0.0	.	615;486;530;575;575;598;592	Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ8;C6ZRK5;Q9NQB0-7;Q6FHW4	TF7L2_HUMAN;.;.;.;.;.;.	N	615;615;598;598;592;331	ENSP00000348274:T615N;ENSP00000440547:T615N;ENSP00000444972:T598N;ENSP00000446238:T598N;ENSP00000358404:T592N;ENSP00000443883:T331N	ENSP00000348274:T615N	T	+	2	0	TCF7L2	114915705	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.413000	0.66399	2.601000	0.87937	0.563000	0.77884	ACC		0.547	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756	
FAM160B1	57700	broad.mit.edu	37	10	116608480	116608480	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:116608480G>A	ENST00000369248.4	+	13	2122	c.1787G>A	c.(1786-1788)cGa>cAa	p.R596Q	FAM160B1_ENST00000369250.3_Missense_Mutation_p.R596Q	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	596								p.R596Q(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ACTTACCTCCGAGACGCTCAT	0.463																																					p.R596Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1787A	10						.						108.0	83.0	92.0					10																	116608480		2203	4300	6503	116598470	SO:0001583	missense	57700	exon13			AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.1787G>A	10.37:g.116608480G>A	ENSP00000358251:p.Arg596Gln		116598470	NM_020940	Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602677	0.87157	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.15017	2.47;2.46	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.18635	0.0447	L	0.28274	0.84	0.80722	D	1	P;D	0.60160	0.777;0.987	B;P	0.46917	0.335;0.531	T	0.01208	-1.1418	10	0.27082	T	0.32	-12.3532	19.9439	0.97175	0.0:0.0:1.0:0.0	.	596;596	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	Q	596	ENSP00000358251:R596Q;ENSP00000358253:R596Q	ENSP00000358251:R596Q	R	+	2	0	FAM160B1	116598470	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.477000	0.97925	2.797000	0.96272	0.561000	0.74099	CGA		0.463	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351	
ATRNL1	26033	broad.mit.edu	37	10	117026461	117026461	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:117026461G>A	ENST00000355044.3	+	12	2086	c.1960G>A	c.(1960-1962)Gca>Aca	p.A654T		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	654	PSI 1.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.A654T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TATTCTTAGAGCAAAGTGCCC	0.333																																					p.A654T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1960A	10						.						78.0	88.0	85.0					10																	117026461		2203	4300	6503	117016451	SO:0001583	missense	26033	exon12			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1960G>A	10.37:g.117026461G>A	ENSP00000347152:p.Ala654Thr		117016451	NM_207303	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765220	0.49574	.	.	ENSG00000107518	ENST00000355044	T	0.14144	2.53	5.93	5.93	0.95920	.	0.148203	0.64402	D	0.000011	T	0.12518	0.0304	L	0.36672	1.1	0.80722	D	1	B	0.26318	0.146	B	0.19148	0.024	T	0.12477	-1.0546	10	0.08179	T	0.78	-13.5832	20.3397	0.98756	0.0:0.0:1.0:0.0	.	654	Q5VV63	ATRN1_HUMAN	T	654	ENSP00000347152:A654T	ENSP00000347152:A654T	A	+	1	0	ATRNL1	117016451	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.465000	0.60141	2.803000	0.96430	0.585000	0.79938	GCA		0.333	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	
EIF3A	8661	broad.mit.edu	37	10	120819152	120819152	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:120819152G>A	ENST00000369144.3	-	10	1532	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	SNORA19_ENST00000410656.1_RNA|SNORA19_ENST00000384737.1_RNA|EIF3A_ENST00000541549.1_Missense_Mutation_p.R435W	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.R469W(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ACTATGGCCCGTTCCAGTTGG	0.458																																					p.R469W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1405T	10						.						94.0	87.0	89.0					10																	120819152		2203	4300	6503	120809142	SO:0001583	missense	8661	exon10			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.1405C>T	10.37:g.120819152G>A	ENSP00000358140:p.Arg469Trp		120809142	NM_003750	B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829408	0.71258	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.32753	1.44;1.44	5.78	4.86	0.63082	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.000000	0.35805	N	0.002967	T	0.58963	0.2159	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66164	-0.5992	10	0.87932	D	0	-17.3926	16.0739	0.80955	0.0:0.0:0.865:0.135	.	469	Q14152	EIF3A_HUMAN	W	469;435	ENSP00000358140:R469W;ENSP00000438178:R435W	ENSP00000358140:R469W	R	-	1	2	EIF3A	120809142	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.559000	0.73946	1.395000	0.46643	0.655000	0.94253	CGG		0.458	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750	
TACC2	10579	broad.mit.edu	37	10	123844193	123844193	+	Silent	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:123844193T>C	ENST00000369005.1	+	4	2518	c.2178T>C	c.(2176-2178)acT>acC	p.T726T	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.T726T|TACC2_ENST00000515273.1_Silent_p.T726T|TACC2_ENST00000453444.2_Silent_p.T726T|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.T726T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	726					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.T726T(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TTCCACCAACTCCTGTTGCAG	0.512																																					p.T726T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2178C	10						.						61.0	69.0	66.0					10																	123844193		2203	4300	6503	123834183	SO:0001819	synonymous_variant	10579	exon4			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2178T>C	10.37:g.123844193T>C			123834183	NM_206862	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	CCDS7626.1																																																																																				0.512	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1		
TCERG1L	256536	broad.mit.edu	37	10	133058622	133058622	+	Silent	SNP	G	G	A	rs138987558		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:133058622G>A	ENST00000368642.4	-	4	841	c.756C>T	c.(754-756)gaC>gaT	p.D252D		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	252								p.D211D(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GGTTCTCAGGGTCCACGGAGA	0.672																																					p.D252D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C756T	10						.						20.0	23.0	22.0					10																	133058622		2201	4297	6498	132948612	SO:0001819	synonymous_variant	256536	exon4			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.756C>T	10.37:g.133058622G>A			132948612	NM_174937	Q5VWI2|Q86XM8	Silent	SNP	ENST00000368642.4	37	CCDS7662.2																																																																																				0.672	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937	
ZNF511	118472	broad.mit.edu	37	10	135126305	135126305	+	3'UTR	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:135126305A>G	ENST00000359035.3	+	0	1643				ZNF511_ENST00000368554.4_Intron|ZNF511_ENST00000361518.5_Missense_Mutation_p.I232V|ZNF511_ENST00000463816.2_3'UTR			Q8NB15	ZN511_HUMAN	zinc finger protein 511						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.I232V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		ACCCTCTACCATCTGCTTTGG	0.453																																					p.I232V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A694G	10						.						190.0	200.0	197.0					10																	135126305		2203	4300	6503	134976295	SO:0001624	3_prime_UTR_variant	118472	exon6			AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"""Zinc fingers, C2H2-type"""	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.*851A>G	10.37:g.135126305A>G			134976295	NM_145806	A8K8L5|Q8WUP1|Q96BV2	Missense_Mutation	SNP	ENST00000359035.3	37		.	.	.	.	.	.	.	.	.	.	A	0.158	-1.083812	0.01888	.	.	ENSG00000198546	ENST00000361518	.	.	.	4.84	1.17	0.20885	.	.	.	.	.	T	0.24431	0.0592	N	0.08118	0	0.80722	D	1	B	0.19583	0.037	B	0.14023	0.01	T	0.10064	-1.0646	8	0.07482	T	0.82	.	7.5324	0.27691	0.7128:0.0:0.2872:0.0	.	232	Q8NB15-2	.	V	232	.	ENSP00000355251:I232V	I	+	1	0	ZNF511	134976295	0.017000	0.18338	0.994000	0.49952	0.645000	0.38454	0.198000	0.17217	0.313000	0.23062	0.533000	0.62120	ATC		0.453	ZNF511-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051143.1	NM_145806	
NET1	10276	broad.mit.edu	37	10	5494838	5494838	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:5494838C>T	ENST00000355029.4	+	6	691	c.549C>T	c.(547-549)tcC>tcT	p.S183S	NET1_ENST00000380359.3_Silent_p.S129S|NET1_ENST00000542715.1_Silent_p.S2S	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	183	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S129S(1)|p.S183S(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						ATGAAATGTCCCGAGGTGAAC	0.313																																					p.S129S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C387T	10						.						91.0	95.0	94.0					10																	5494838		2203	4300	6503	5484838	SO:0001819	synonymous_variant	10276	exon4			AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.549C>T	10.37:g.5494838C>T			5484838	NM_005863	Q12773|Q96D82|Q99903|Q9UEN6	Silent	SNP	ENST00000355029.4	37	CCDS41483.1																																																																																				0.313	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863	
ITIH5	80760	broad.mit.edu	37	10	7684021	7684021	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:7684021C>T	ENST00000256861.6	-	3	246	c.168G>A	c.(166-168)gtG>gtA	p.V56V	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'Flank|ITIH5_ENST00000397146.2_Silent_p.V56V|ITIH5_ENST00000397145.2_Silent_p.V56V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	56	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V56V(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGGTAGACTTCACTGAGAATT	0.428																																					p.V56V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G168A	10						.						118.0	113.0	115.0					10																	7684021		2203	4300	6503	7724027	SO:0001819	synonymous_variant	80760	exon3					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.168G>A	10.37:g.7684021C>T			7724027	NM_030569	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37																																																																																					0.428	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569	
TAF3	83860	broad.mit.edu	37	10	8006195	8006195	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:8006195C>A	ENST00000344293.5	+	3	928	c.722C>A	c.(721-723)cCt>cAt	p.P241H		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	241					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)	p.P241H(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GACTTGGCACCTCCCTCACCC	0.448																																					p.P241H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C722A	10						.						66.0	68.0	67.0					10																	8006195		1921	4132	6053	8046201	SO:0001583	missense	83860	exon3			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.722C>A	10.37:g.8006195C>A	ENSP00000340271:p.Pro241His		8046201	NM_031923	Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959558	0.34565	.	.	ENSG00000165632	ENST00000344293;ENST00000542889	T	0.37058	1.22	5.67	5.67	0.87782	.	0.183471	0.38959	N	0.001501	T	0.57080	0.2029	M	0.75447	2.3	0.58432	D	0.999999	D	0.76494	0.999	D	0.63488	0.915	T	0.59710	-0.7403	10	0.66056	D	0.02	-14.7364	13.0244	0.58806	0.0:0.9266:0.0:0.0734	.	241	Q5VWG9	TAF3_HUMAN	H	241	ENSP00000340271:P241H	ENSP00000340271:P241H	P	+	2	0	TAF3	8046201	0.994000	0.37717	0.319000	0.25293	0.005000	0.04900	2.791000	0.47829	2.686000	0.91538	0.655000	0.94253	CCT		0.448	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923	
FRMD4A	55691	broad.mit.edu	37	10	13735926	13735926	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:13735926G>A	ENST00000357447.2	-	15	1457	c.1089C>T	c.(1087-1089)agC>agT	p.S363S	FRMD4A_ENST00000342409.2_Silent_p.S379S|FRMD4A_ENST00000378503.1_Silent_p.S363S|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000358621.4_Silent_p.S348S	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	363					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)		p.S363S(1)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CGCTGCTGCCGCTGATGATCT	0.652																																					p.S363S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1089T	10						.						84.0	71.0	75.0					10																	13735926		2203	4300	6503	13775932	SO:0001819	synonymous_variant	55691	exon15			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1089C>T	10.37:g.13735926G>A			13775932	NM_018027	A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	CCDS7101.1																																																																																				0.652	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027	
DCLRE1C	64421	broad.mit.edu	37	10	14951099	14951101	+	In_Frame_Del	DEL	CTT	CTT	-	rs373709012|rs115250914	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	CTT	CTT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:14951099_14951101delCTT	ENST00000378278.2	-	14	1422_1424	c.1385_1387delAAG	c.(1384-1389)gaagta>gta	p.E462del	DCLRE1C_ENST00000396817.2_In_Frame_Del_p.E342del|DCLRE1C_ENST00000378254.1_In_Frame_Del_p.E342del|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378255.1_In_Frame_Del_p.E342del|DCLRE1C_ENST00000378246.2_In_Frame_Del_p.E347del|DCLRE1C_ENST00000357717.2_In_Frame_Del_p.E347del|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378249.1_In_Frame_Del_p.E347del|DCLRE1C_ENST00000378242.1_In_Frame_Del_p.E115del|DCLRE1C_ENST00000453695.2_In_Frame_Del_p.E342del|DCLRE1C_ENST00000378258.1_In_Frame_Del_p.E342del			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	462					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.E462delE(1)|p.E347delE(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GGGATTCCTACTTCTTCTTCACT	0.458								Non-homologous end-joining						3	0.000599042	0.0	0.0	5008	,	,		21380	0.002		0.0	False		,,,				2504	0.001				p.462_463del												.	.	2	Deletion - In frame(2)	large_intestine(2)	c.1385_1387del	10						.																																			14991107	SO:0001651	inframe_deletion	64421	exon14			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1385_1387delAAG	10.37:g.14951105_14951107delCTT	ENSP00000367527:p.Glu462del		14991105	NM_001033855	D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	In_Frame_Del	DEL	ENST00000378278.2	37	CCDS31149.1																																																																																				0.458	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487	
FAM171A1	221061	broad.mit.edu	37	10	15255177	15255177	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:15255177T>C	ENST00000378116.4	-	8	2416	c.2410A>G	c.(2410-2412)Acg>Gcg	p.T804A	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	804						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T804A(1)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GTACAGACCGTGGTCCCACAT	0.627																																					p.T804A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2410G	10						.						63.0	54.0	57.0					10																	15255177		2203	4300	6503	15295183	SO:0001583	missense	221061	exon8			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2410A>G	10.37:g.15255177T>C	ENSP00000367356:p.Thr804Ala		15295183	NM_001010924	D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	T	0.379	-0.929799	0.02359	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.29917	1.55	5.13	2.81	0.32909	.	0.320500	0.33792	N	0.004545	T	0.13372	0.0324	N	0.16368	0.405	0.27781	N	0.943166	B	0.02656	0.0	B	0.04013	0.001	T	0.34850	-0.9812	10	0.02654	T	1	-9.9916	6.633	0.22867	0.0:0.4015:0.0:0.5985	.	804	Q5VUB5	F1711_HUMAN	A	804;803	ENSP00000367356:T804A	ENSP00000367356:T804A	T	-	1	0	FAM171A1	15295183	1.000000	0.71417	0.988000	0.46212	0.973000	0.67179	1.331000	0.33793	0.425000	0.26087	0.460000	0.39030	ACG		0.627	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709	
FAM171A1	221061	broad.mit.edu	37	10	15255986	15255986	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:15255986C>T	ENST00000378116.4	-	8	1607	c.1601G>A	c.(1600-1602)cGc>cAc	p.R534H	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	534						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R534H(1)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						AGTGGGTCTGCGGTCCAGCAG	0.557																																					p.R534H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1601A	10						.						153.0	151.0	152.0					10																	15255986		2203	4300	6503	15295992	SO:0001583	missense	221061	exon8			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1601G>A	10.37:g.15255986C>T	ENSP00000367356:p.Arg534His		15295992	NM_001010924	D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	CCDS31154.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.32|18.32	3.598217|3.598217	0.66332|0.66332	.|.	.|.	ENSG00000148468|ENSG00000148468	ENST00000396781|ENST00000378116	.|T	.|0.32753	.|1.44	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	.|0.125422	.|0.53938	.|D	.|0.000051	T|T	0.43986|0.43986	0.1272|0.1272	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.53885	.|0.963	.|P	.|0.51945	.|0.685	T|T	0.19128|0.19128	-1.0315|-1.0315	6|10	0.36615|0.44086	T|T	0.2|0.13	-30.6881|-30.6881	19.0487|19.0487	0.93032|0.93032	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|534	.|Q5VUB5	.|F1711_HUMAN	T|H	534|534	.|ENSP00000367356:R534H	ENSP00000380001:A534T|ENSP00000367356:R534H	A|R	-|-	1|2	0|0	FAM171A1|FAM171A1	15295992|15295992	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.536000|0.536000	0.34869|0.34869	5.902000|5.902000	0.69869|0.69869	2.724000|2.724000	0.93272|0.93272	0.563000|0.563000	0.77884|0.77884	GCA|CGC		0.557	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709	
CUBN	8029	broad.mit.edu	37	10	17142081	17142081	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:17142081G>A	ENST00000377833.4	-	14	1753	c.1688C>T	c.(1687-1689)gCt>gTt	p.A563V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	563	CUB 1. {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.A563V(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)	AAAATAGAGAGCATTGTCACT	0.418																																					p.A563V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1688T	10						.						121.0	120.0	121.0					10																	17142081		2203	4300	6503	17182087	SO:0001583	missense	8029	exon14			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.1688C>T	10.37:g.17142081G>A	ENSP00000367064:p.Ala563Val		17182087	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853854	0.51270	.	.	ENSG00000107611	ENST00000377833	T	0.18810	2.19	5.51	5.51	0.81932	CUB (5);	0.168937	0.27956	N	0.017164	T	0.19846	0.0477	L	0.31476	0.935	0.80722	D	1	B	0.16166	0.016	B	0.16722	0.016	T	0.02728	-1.1118	10	0.35671	T	0.21	.	19.4192	0.94713	0.0:0.0:1.0:0.0	.	563	O60494	CUBN_HUMAN	V	563	ENSP00000367064:A563V	ENSP00000367064:A563V	A	-	2	0	CUBN	17182087	1.000000	0.71417	0.581000	0.28614	0.774000	0.43823	7.158000	0.77470	2.586000	0.87340	0.650000	0.86243	GCT		0.418	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
ARMC3	219681	broad.mit.edu	37	10	23290921	23290921	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:23290921C>T	ENST00000298032.5	+	12	1583	c.1499C>T	c.(1498-1500)gCc>gTc	p.A500V	ARMC3_ENST00000409983.3_Missense_Mutation_p.A500V|ARMC3_ENST00000376528.4_Missense_Mutation_p.A237V|ARMC3_ENST00000409049.3_Missense_Mutation_p.A500V	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	500						extracellular vesicular exosome (GO:0070062)		p.A500V(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGGAAGCACGCCAGTTGGGCA	0.498																																					p.A500V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1499T	10						.						121.0	104.0	110.0					10																	23290921		2203	4300	6503	23330927	SO:0001583	missense	219681	exon12			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1499C>T	10.37:g.23290921C>T	ENSP00000298032:p.Ala500Val		23330927	NM_173081	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806086	0.90623	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.91136	0.7209	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.954;0.999	D	0.90381	0.4388	10	0.54805	T	0.06	-14.2665	20.2904	0.98542	0.0:1.0:0.0:0.0	.	500;500	Q5W041-4;Q5W041	.;ARMC3_HUMAN	V	500;500;436;500;237	ENSP00000298032:A500V;ENSP00000386943:A500V;ENSP00000387288:A500V;ENSP00000365711:A237V	ENSP00000298032:A500V	A	+	2	0	ARMC3	23330927	1.000000	0.71417	0.997000	0.53966	0.730000	0.41778	6.321000	0.72881	2.796000	0.96246	0.655000	0.94253	GCC		0.498	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081	
SVIL	6840	broad.mit.edu	37	10	29811463	29811463	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:29811463A>G	ENST00000355867.4	-	16	4017	c.3265T>C	c.(3265-3267)Tcg>Ccg	p.S1089P	SVIL_ENST00000375400.3_Missense_Mutation_p.S663P|SVIL_ENST00000375398.2_Missense_Mutation_p.S1089P|SVIL_ENST00000535393.1_5'Flank	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1089					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.S1089P(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGCTGTTCCGAAGAATCCTGG	0.582																																					p.S663P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1987C	10						.						67.0	66.0	66.0					10																	29811463		2203	4300	6503	29851469	SO:0001583	missense	6840	exon14			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.3265T>C	10.37:g.29811463A>G	ENSP00000348128:p.Ser1089Pro		29851469	NM_003174	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.972592	0.34848	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535994	T;T;T	0.12879	2.64;2.66;2.66	5.95	-4.46	0.03536	.	0.862035	0.10318	N	0.689073	T	0.13114	0.0318	M	0.66939	2.045	0.09310	N	0.999997	B;B	0.12013	0.004;0.005	B;B	0.13407	0.009;0.007	T	0.31613	-0.9937	10	0.36615	T	0.2	-0.0132	8.1567	0.31173	0.3556:0.4539:0.1905:0.0	.	663;1089	O95425-2;O95425	.;SVIL_HUMAN	P	663;1089;1089;43	ENSP00000364549:S663P;ENSP00000364547:S1089P;ENSP00000348128:S1089P	ENSP00000348128:S1089P	S	-	1	0	SVIL	29851469	0.002000	0.14202	0.000000	0.03702	0.047000	0.14425	0.406000	0.21032	-0.721000	0.04929	-0.290000	0.09829	TCG		0.582	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		
KIF5B	3799	broad.mit.edu	37	10	32306164	32306164	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:32306164G>A	ENST00000302418.4	-	24	3125	c.2668C>T	c.(2668-2670)Cgt>Tgt	p.R890C	KIF5B_ENST00000493889.1_5'UTR	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	890					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.R890C(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TTGCGATCACGAGATGCATTT	0.448			T	"""RET, ALK"""	NSCLC																																p.R890C			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2668T	10						.						283.0	249.0	260.0					10																	32306164		2203	4300	6503	32346170	SO:0001583	missense	3799	exon24			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2668C>T	10.37:g.32306164G>A	ENSP00000307078:p.Arg890Cys		32346170	NM_004521	A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473761	0.84640	.	.	ENSG00000170759	ENST00000302418	D	0.87650	-2.28	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.93491	0.7923	M	0.82823	2.61	0.58432	D	0.999999	D	0.71674	0.998	P	0.61275	0.886	D	0.93942	0.7224	10	0.72032	D	0.01	.	19.5519	0.95324	0.0:0.0:1.0:0.0	.	890	P33176	KINH_HUMAN	C	890	ENSP00000307078:R890C	ENSP00000307078:R890C	R	-	1	0	KIF5B	32346170	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.403000	0.66338	2.623000	0.88846	0.467000	0.42956	CGT		0.448	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521	
PARD3	56288	broad.mit.edu	37	10	34636908	34636908	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:34636908G>T	ENST00000374789.3	-	15	2528	c.2203C>A	c.(2203-2205)Ctc>Atc	p.L735I	PARD3_ENST00000374773.1_Missense_Mutation_p.L735I|PARD3_ENST00000340077.5_Missense_Mutation_p.L735I|PARD3_ENST00000544292.1_Missense_Mutation_p.L452I|PARD3_ENST00000374790.3_Missense_Mutation_p.L678I|PARD3_ENST00000374788.3_Missense_Mutation_p.L735I|PARD3_ENST00000374794.3_Missense_Mutation_p.L678I|PARD3_ENST00000545260.1_Missense_Mutation_p.L678I|PARD3_ENST00000346874.4_Missense_Mutation_p.L735I|PARD3_ENST00000374768.1_Missense_Mutation_p.L173I|PARD3_ENST00000545693.1_Missense_Mutation_p.L722I|PARD3_ENST00000350537.4_Missense_Mutation_p.L722I|PARD3_ENST00000374776.1_Missense_Mutation_p.L722I	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	735	Interacts with PRKCI and PRKCZ. {ECO:0000250}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.L735I(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ATCCTACTGAGGGCAGCATTT	0.418																																					p.L735I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2203A	10						.						74.0	71.0	72.0					10																	34636908		2203	4300	6503	34676914	SO:0001583	missense	56288	exon15			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2203C>A	10.37:g.34636908G>T	ENSP00000363921:p.Leu735Ile		34676914	NM_001184787	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117673	0.56505	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292;ENST00000374768	T;T;T;T;T;T;T;T;T;T;T;T;T	0.18960	2.54;2.54;2.57;2.56;2.6;2.5;2.54;2.54;2.21;2.18;2.27;2.22;2.37	5.66	5.66	0.87406	.	0.396718	0.28470	N	0.015221	T	0.36413	0.0966	L	0.50333	1.59	0.44771	D	0.99777	B;D;D;P;D;B;P;P;P;P;B;B;B;B;B	0.71674	0.165;0.992;0.998;0.937;0.998;0.081;0.937;0.793;0.793;0.896;0.021;0.165;0.036;0.036;0.036	B;D;D;P;D;B;P;B;P;B;B;B;B;B;B	0.85130	0.051;0.984;0.997;0.661;0.997;0.051;0.561;0.269;0.459;0.358;0.023;0.051;0.061;0.034;0.021	T	0.01748	-1.1282	10	0.28530	T	0.3	.	9.8901	0.41285	0.1888:0.0:0.8112:0.0	.	678;678;722;722;722;735;735;735;678;722;735;735;722;735;452	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	I	722;678;735;735;735;678;722;678;722;735;735;452;173	ENSP00000443147:L722I;ENSP00000440857:L678I;ENSP00000363921:L735I;ENSP00000363920:L735I;ENSP00000340591:L735I;ENSP00000363926:L678I;ENSP00000311986:L722I;ENSP00000363922:L678I;ENSP00000363908:L722I;ENSP00000341844:L735I;ENSP00000363905:L735I;ENSP00000444429:L452I;ENSP00000363900:L173I	ENSP00000341844:L735I	L	-	1	0	PARD3	34676914	0.996000	0.38824	0.954000	0.39281	0.978000	0.69477	2.538000	0.45710	2.826000	0.97356	0.655000	0.94253	CTC		0.418	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619	
PARD3	56288	broad.mit.edu	37	10	34985345	34985345	+	Silent	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:34985345A>G	ENST00000374789.3	-	2	448	c.123T>C	c.(121-123)gaT>gaC	p.D41D	PARD3_ENST00000374773.1_Silent_p.D41D|PARD3_ENST00000340077.5_Silent_p.D41D|PARD3_ENST00000374790.3_Silent_p.D41D|PARD3_ENST00000374788.3_Silent_p.D41D|PARD3_ENST00000374794.3_Silent_p.D41D|PARD3_ENST00000545260.1_Silent_p.D41D|PARD3_ENST00000346874.4_Silent_p.D41D|PARD3_ENST00000545693.1_Silent_p.D41D|PARD3_ENST00000350537.4_Silent_p.D41D|PARD3_ENST00000374776.1_Silent_p.D41D	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	41					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.D41D(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AGTAGTTTGGATCCTATACGA	0.398																																					p.D41D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T123C	10						.						242.0	207.0	219.0					10																	34985345		2203	4300	6503	35025351	SO:0001819	synonymous_variant	56288	exon2			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.123T>C	10.37:g.34985345A>G			35025351	NM_001184787	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	ENST00000374789.3	37	CCDS7178.1																																																																																				0.398	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619	
RET	5979	broad.mit.edu	37	10	43610164	43610164	+	Missense_Mutation	SNP	G	G	A	rs137855422		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:43610164G>A	ENST00000355710.3	+	11	2348	c.2116G>A	c.(2116-2118)Gtg>Atg	p.V706M	RET_ENST00000340058.5_Missense_Mutation_p.V706M	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	706					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V706M(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCAGGTCTCCGTGGATGCCTT	0.677		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												p.V706M	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2116A	10						.																																			42930170	SO:0001583	missense	5979	exon11	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2116G>A	10.37:g.43610164G>A	ENSP00000347942:p.Val706Met		42930170	NM_020975	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569247	0.65765	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.89485	-2.52;-2.52	4.88	3.98	0.46160	.	0.242215	0.34725	N	0.003733	D	0.82838	0.5124	N	0.19112	0.55	0.46678	D	0.999158	D;D;D	0.63880	0.957;0.957;0.993	B;B;P	0.45343	0.12;0.223;0.477	D	0.84899	0.0841	10	0.72032	D	0.01	.	13.108	0.59257	0.0772:0.0:0.9228:0.0	.	452;706;706	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	M	706	ENSP00000347942:V706M;ENSP00000344798:V706M	ENSP00000344798:V706M	V	+	1	0	RET	42930170	1.000000	0.71417	0.808000	0.32385	0.932000	0.56968	6.160000	0.71862	1.292000	0.44672	0.561000	0.74099	GTG		0.677	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975	
HNRNPF	3185	broad.mit.edu	37	10	43882805	43882805	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:43882805T>C	ENST00000544000.1	-	4	935	c.528A>G	c.(526-528)atA>atG	p.I176M	HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000337970.3_Missense_Mutation_p.I176M|HNRNPF_ENST00000357065.4_Missense_Mutation_p.I176M|HNRNPF_ENST00000443950.2_Missense_Mutation_p.I176M|HNRNPF_ENST00000356053.3_Missense_Mutation_p.I176M	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	176	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.I176M(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ACCTGTGCCCTATCCTCTCCT	0.552																																					p.I176M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A528G	10						.						122.0	111.0	115.0					10																	43882805		2203	4300	6503	43202811	SO:0001583	missense	3185	exon3				CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.528A>G	10.37:g.43882805T>C	ENSP00000438061:p.Ile176Met		43202811	NM_001098208	B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	37	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.599208	0.46318	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	4.17	1.75	0.24633	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.042805	0.85682	N	0.000000	T	0.21921	0.0528	L	0.39397	1.21	0.58432	D	0.999994	P	0.50443	0.935	P	0.53760	0.734	T	0.04307	-1.0961	10	0.26408	T	0.33	-22.3243	5.6889	0.17819	0.0:0.0945:0.1709:0.7346	.	176	P52597	HNRPF_HUMAN	M	176;176;176;176;176;99	ENSP00000438061:I176M;ENSP00000400433:I176M;ENSP00000348345:I176M;ENSP00000349573:I176M;ENSP00000338477:I176M	ENSP00000338477:I176M	I	-	3	3	HNRNPF	43202811	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.541000	0.67212	0.365000	0.24400	0.533000	0.62120	ATA		0.552	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2		
RBP3	5949	broad.mit.edu	37	10	48390266	48390266	+	Silent	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:48390266G>T	ENST00000224600.4	-	1	725	c.612C>A	c.(610-612)tcC>tcA	p.S204S	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	204	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.S204S(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGGTGGTGTTGGAGGGGCGGT	0.607																																					p.S204S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C612A	10						.						102.0	98.0	99.0					10																	48390266		2203	4300	6503	48010272	SO:0001819	synonymous_variant	5949	exon1			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.612C>A	10.37:g.48390266G>T			48010272	NM_002900	Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	CCDS7218.1																																																																																				0.607	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900	
FRMPD2	143162	broad.mit.edu	37	10	49446107	49446107	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:49446107G>T	ENST00000374201.3	-	8	1150	c.848C>A	c.(847-849)tCt>tAt	p.S283Y	FRMPD2_ENST00000407470.4_Missense_Mutation_p.S252Y|FRMPD2_ENST00000305531.3_Missense_Mutation_p.S259Y	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	283					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.S283Y(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CGAGTGCACAGATCCAGAGCT	0.572																																					p.S283Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C848A	10						.						69.0	72.0	71.0					10																	49446107		2203	4300	6503	49116113	SO:0001583	missense	143162	exon8			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.848C>A	10.37:g.49446107G>T	ENSP00000363317:p.Ser283Tyr		49116113	NM_001018071	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150716	0.57151	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.66280	-0.15;-0.2;-0.19	4.18	4.18	0.49190	.	.	.	.	.	T	0.72399	0.3455	L	0.54323	1.7	0.09310	N	1	D;D;D	0.63880	0.993;0.976;0.993	D;P;D	0.63113	0.911;0.656;0.911	T	0.62987	-0.6737	9	0.87932	D	0	.	12.7138	0.57103	0.0:0.0:1.0:0.0	.	259;283;252	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	Y	283;259;252	ENSP00000363317:S283Y;ENSP00000307079:S259Y;ENSP00000384339:S252Y	ENSP00000307079:S259Y	S	-	2	0	FRMPD2	49116113	0.069000	0.21087	0.004000	0.12327	0.006000	0.05464	3.867000	0.56047	2.268000	0.75426	0.462000	0.41574	TCT		0.572	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428	
VSTM4	196740	broad.mit.edu	37	10	50285348	50285348	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:50285348C>T	ENST00000332853.4	-	4	573	c.550G>A	c.(550-552)Gtg>Atg	p.V184M		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V184M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						ACGCAGCACACGAGGACAGCA	0.512																																					p.V184M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G550A	10						.						124.0	98.0	107.0					10																	50285348		2203	4300	6503	49955354	SO:0001583	missense	196740	exon4			BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.550G>A	10.37:g.50285348C>T	ENSP00000331062:p.Val184Met		49955354	NM_001031746	B4DNI6|Q96MX7	Missense_Mutation	SNP	ENST00000332853.4	37	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624639	0.66901	.	.	ENSG00000165633	ENST00000332853	T	0.09255	3.0	5.16	5.16	0.70880	.	0.291535	0.33980	N	0.004362	T	0.28001	0.0690	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.00334	-1.1809	10	0.87932	D	0	-24.3712	15.6796	0.77357	0.0:1.0:0.0:0.0	.	184	Q8IW00	VSTM4_HUMAN	M	184	ENSP00000331062:V184M	ENSP00000331062:V184M	V	-	1	0	VSTM4	49955354	0.985000	0.35326	0.994000	0.49952	0.664000	0.39144	2.788000	0.47806	2.671000	0.90904	0.655000	0.94253	GTG		0.512	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984	
VSTM4	196740	broad.mit.edu	37	10	50315806	50315806	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:50315806C>T	ENST00000332853.4	-	2	313	c.290G>A	c.(289-291)cGg>cAg	p.R97Q	VSTM4_ENST00000298454.3_Missense_Mutation_p.R97Q	NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	97	Ig-like.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R97Q(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GCGCAGCCTCCGCCGTTTGGC	0.612																																					p.R97Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G290A	10						.						59.0	62.0	61.0					10																	50315806		2203	4300	6503	49985812	SO:0001583	missense	196740	exon2			BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.290G>A	10.37:g.50315806C>T	ENSP00000331062:p.Arg97Gln		49985812	NM_144984	B4DNI6|Q96MX7	Missense_Mutation	SNP	ENST00000332853.4	37	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	C	6.539	0.467727	0.12402	.	.	ENSG00000165633	ENST00000332853;ENST00000298454	T;T	0.65549	-0.16;-0.16	5.93	-2.11	0.07187	.	0.442976	0.26855	N	0.022147	T	0.19565	0.0470	N	0.00237	-1.79	0.19300	N	0.999978	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.40327	-0.9569	10	0.11794	T	0.64	-9.5406	10.818	0.46587	0.0:0.3901:0.0:0.6099	.	97;97	Q8IW00-2;Q8IW00	.;VSTM4_HUMAN	Q	97	ENSP00000331062:R97Q;ENSP00000298454:R97Q	ENSP00000298454:R97Q	R	-	2	0	VSTM4	49985812	1.000000	0.71417	0.167000	0.22817	0.092000	0.18411	1.166000	0.31834	-0.633000	0.05545	-1.021000	0.02439	CGG		0.612	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984	
ERCC6	2074	broad.mit.edu	37	10	50684305	50684305	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:50684305C>T	ENST00000355832.5	-	12	2416	c.2338G>A	c.(2338-2340)Gtt>Att	p.V780I	ERCC6_ENST00000542458.1_Missense_Mutation_p.V150I	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	780					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.V780I(2)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTGGAATCAACGAAATTTTGG	0.368								Direct reversal of damage;Nucleotide excision repair (NER)																													p.V780I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2338A	10						.						59.0	59.0	59.0					10																	50684305		2203	4300	6503	50354311	SO:0001583	missense	2074	exon12			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2338G>A	10.37:g.50684305C>T	ENSP00000348089:p.Val780Ile		50354311	NM_000124	D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	6.857	0.527444	0.13066	.	.	ENSG00000225830	ENST00000355832;ENST00000539110;ENST00000542458	T;T	0.75154	-0.91;-0.91	5.31	2.78	0.32641	SNF2-related (1);	.	.	.	.	T	0.58509	0.2127	N	0.26042	0.785	0.26353	N	0.977179	B	0.09022	0.002	B	0.01281	0.0	T	0.39165	-0.9627	9	0.15952	T	0.53	-9.8268	9.822	0.40887	0.0:0.1311:0.0:0.8689	.	780	Q03468	ERCC6_HUMAN	I	780;29;150	ENSP00000348089:V780I;ENSP00000445134:V150I	ENSP00000348089:V780I	V	-	1	0	ERCC6	50354311	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	1.323000	0.33701	0.331000	0.23511	-1.028000	0.02416	GTT		0.368	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124	
CHAT	1103	broad.mit.edu	37	10	50854692	50854692	+	Missense_Mutation	SNP	C	C	T	rs376230019		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:50854692C>T	ENST00000337653.2	+	8	1406	c.1253C>T	c.(1252-1254)gCc>gTc	p.A418V	CHAT_ENST00000351556.3_Missense_Mutation_p.A300V|CHAT_ENST00000395559.2_Missense_Mutation_p.A300V|CHAT_ENST00000395562.2_Missense_Mutation_p.A336V|CHAT_ENST00000455728.2_Missense_Mutation_p.A300V|CHAT_ENST00000339797.1_Missense_Mutation_p.A300V	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	418					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.A418V(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	AAGAACGGGGCCAATCGCTGG	0.642																																					p.A300V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C899T	10						.	C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	79.0	67.0	71.0		899,1007,899,1253,899,899,899	5.5	0.8	10		71	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	CHAT	NM_001142929.1,NM_001142933.1,NM_001142934.1,NM_020549.4,NM_020984.3,NM_020985.3,NM_020986.3	64,64,64,64,64,64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	300/631,336/667,300/631,418/749,300/631,300/631,300/631	50854692	1,13005	2203	4300	6503	50524698	SO:0001583	missense	1103	exon8			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1253C>T	10.37:g.50854692C>T	ENSP00000337103:p.Ala418Val		50524698	NM_001142929	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	C	32	5.131831	0.94473	2.27E-4	0.0	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	5.46	5.46	0.80206	.	0.107861	0.64402	D	0.000010	D	0.90235	0.6947	M	0.87180	2.865	0.58432	D	0.999994	D;D	0.89917	0.989;1.0	P;D	0.71184	0.777;0.972	D	0.91042	0.4872	10	0.54805	T	0.06	-20.5704	14.8566	0.70341	0.0:0.8566:0.1434:0.0	.	300;418	F8W8I2;P28329	.;CLAT_HUMAN	V	300;300;300;418;336;300	ENSP00000343486:A300V;ENSP00000345878:A300V;ENSP00000378926:A300V;ENSP00000337103:A418V;ENSP00000378929:A336V;ENSP00000390521:A300V	ENSP00000337103:A418V	A	+	2	0	CHAT	50524698	1.000000	0.71417	0.831000	0.32960	0.863000	0.49368	5.250000	0.65432	2.569000	0.86673	0.655000	0.94253	GCC		0.642	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549	
IPMK	253430	broad.mit.edu	37	10	59955944	59955944	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:59955944G>A	ENST00000373935.3	-	6	1466	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	382					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)	p.R382*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						TCTATCATTCGCACTTCTACT	0.373																																					p.R382X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1144T	10						.						131.0	126.0	128.0					10																	59955944		2203	4300	6503	59625950	SO:0001587	stop_gained	253430	exon6			AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.1144C>T	10.37:g.59955944G>A	ENSP00000363046:p.Arg382*		59625950	NM_152230		Nonsense_Mutation	SNP	ENST00000373935.3	37	CCDS7250.1	.	.	.	.	.	.	.	.	.	.	G	38	6.774650	0.97829	.	.	ENSG00000151151	ENST00000373935	.	.	.	6.07	3.17	0.36434	.	0.114482	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.7157	7.0519	0.25077	0.079:0.0:0.6138:0.3072	.	.	.	.	X	382	.	.	R	-	1	2	IPMK	59625950	0.920000	0.31207	0.984000	0.44739	0.957000	0.61999	1.324000	0.33712	0.421000	0.25980	0.585000	0.79938	CGA		0.373	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230	
IPMK	253430	broad.mit.edu	37	10	59986858	59986858	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:59986858G>A	ENST00000373935.3	-	3	641	c.319C>T	c.(319-321)Cga>Tga	p.R107*		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	107					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)	p.R107*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						AAATATTTTCGTAGCTCTAGA	0.363																																					p.R107X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C319T	10						.						102.0	102.0	102.0					10																	59986858		2203	4300	6503	59656864	SO:0001587	stop_gained	253430	exon3			AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.319C>T	10.37:g.59986858G>A	ENSP00000363046:p.Arg107*		59656864	NM_152230		Nonsense_Mutation	SNP	ENST00000373935.3	37	CCDS7250.1	.	.	.	.	.	.	.	.	.	.	G	40	8.099765	0.98654	.	.	ENSG00000151151	ENST00000373935	.	.	.	5.88	5.88	0.94601	.	0.125190	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	2.211	17.7222	0.88355	0.0:0.0:1.0:0.0	.	.	.	.	X	107	.	.	R	-	1	2	IPMK	59656864	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.321000	0.79088	2.785000	0.95823	0.650000	0.86243	CGA		0.363	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230	
UBE2D1	7321	broad.mit.edu	37	10	60123413	60123413	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:60123413delT	ENST00000373910.4	+	4	392	c.165delT	c.(163-165)catfs	p.H55fs		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	55					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|BMP signaling pathway (GO:0030509)|cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.P57fs*22(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						TCACTGTACATTTTCCGACAG	0.313																																					p.H55fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.165delT	10						.						106.0	99.0	102.0					10																	60123413		2203	4300	6503	59793419	SO:0001589	frameshift_variant	7321	exon4			BC015997	CCDS7252.1, CCDS73139.1	10q21.1	2011-05-19	2011-05-19		ENSG00000072401	ENSG00000072401		"""Ubiquitin-conjugating enzymes E2"""	12474	protein-coding gene	gene with protein product		602961	"""stimulator of Fe transport"", ""ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)"""	SFT		10072594, 8530467	Standard	NM_003338		Approved	UbcH5A, UBCH5, UBC4/5, E2(17)KB1	uc001jke.2	P51668	OTTHUMG00000018269	ENST00000373910.4:c.165delT	10.37:g.60123413delT	ENSP00000363019:p.His55fs		59793419	NM_003338	A6NLF6|A8K786	Frame_Shift_Del	DEL	ENST00000373910.4	37	CCDS7252.1																																																																																				0.313	UBE2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048143.2	NM_003338	
BICC1	80114	broad.mit.edu	37	10	60546735	60546735	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:60546735T>C	ENST00000373886.3	+	5	444	c.440T>C	c.(439-441)gTa>gCa	p.V147A		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	147	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.V147A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CATTCACATGTAATCGGCAAA	0.363																																					p.V147A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T440C	10						.						115.0	107.0	110.0					10																	60546735		2203	4300	6503	60216741	SO:0001583	missense	80114	exon5			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.440T>C	10.37:g.60546735T>C	ENSP00000362993:p.Val147Ala		60216741	NM_001080512		Missense_Mutation	SNP	ENST00000373886.3	37	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.855957	0.91355	.	.	ENSG00000122870	ENST00000373886	T	0.40225	1.04	5.79	5.79	0.91817	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.69708	0.3141	M	0.86502	2.82	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.75909	-0.3151	10	0.87932	D	0	-16.5155	16.1293	0.81414	0.0:0.0:0.0:1.0	.	147	Q9H694	BICC1_HUMAN	A	147	ENSP00000362993:V147A	ENSP00000362993:V147A	V	+	2	0	BICC1	60216741	1.000000	0.71417	0.987000	0.45799	0.975000	0.68041	7.920000	0.87521	2.212000	0.71576	0.460000	0.39030	GTA		0.363	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044	
BICC1	80114	broad.mit.edu	37	10	60562922	60562922	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:60562922G>A	ENST00000373886.3	+	15	2105	c.2101G>A	c.(2101-2103)Gct>Act	p.A701T	BICC1_ENST00000263103.1_Missense_Mutation_p.A327T	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	701					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.A701T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GAGTGAGCGCGCTGCAGAGAG	0.527																																					p.A701T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2101A	10						.						54.0	53.0	53.0					10																	60562922		2203	4300	6503	60232928	SO:0001583	missense	80114	exon15			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2101G>A	10.37:g.60562922G>A	ENSP00000362993:p.Ala701Thr		60232928	NM_001080512		Missense_Mutation	SNP	ENST00000373886.3	37	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	G	35	5.497767	0.96355	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.50813	1.54;0.73	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.66317	0.2777	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	T	0.56282	-0.8005	10	0.21540	T	0.41	-14.0278	20.4008	0.98991	0.0:0.0:1.0:0.0	.	621;701	E7EU62;Q9H694	.;BICC1_HUMAN	T	701;327	ENSP00000362993:A701T;ENSP00000263103:A327T	ENSP00000263103:A327T	A	+	1	0	BICC1	60232928	1.000000	0.71417	0.295000	0.24960	0.984000	0.73092	9.689000	0.98673	2.826000	0.97356	0.655000	0.94253	GCT		0.527	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044	
TET1	80312	broad.mit.edu	37	10	70404762	70404762	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:70404762G>A	ENST00000373644.4	+	4	2485	c.2276G>A	c.(2275-2277)gGc>gAc	p.G759D		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	759					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.G759D(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTAAGAAATGGCATTAAACAT	0.313																																					p.G759D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2276A	10						.						42.0	40.0	41.0					10																	70404762		2203	4300	6503	70074768	SO:0001583	missense	80312	exon4			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.2276G>A	10.37:g.70404762G>A	ENSP00000362748:p.Gly759Asp		70074768	NM_030625	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826367	0.50739	.	.	ENSG00000138336	ENST00000373644	T	0.14144	2.53	5.92	5.92	0.95590	.	0.479449	0.19694	N	0.108193	T	0.30823	0.0777	L	0.36672	1.1	0.44289	D	0.997158	D	0.89917	1.0	D	0.91635	0.999	T	0.00354	-1.1794	10	0.52906	T	0.07	.	18.5149	0.90933	0.0:0.0:1.0:0.0	.	759	Q8NFU7	TET1_HUMAN	D	759	ENSP00000362748:G759D	ENSP00000362748:G759D	G	+	2	0	TET1	70074768	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	5.153000	0.64888	2.822000	0.97130	0.650000	0.86243	GGC		0.313	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625	
TYSND1	219743	broad.mit.edu	37	10	71902479	71902479	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:71902479C>T	ENST00000287078.6	-	3	1427	c.1428G>A	c.(1426-1428)gtG>gtA	p.V476V	TYSND1_ENST00000335494.5_Intron|TYSND1_ENST00000494143.1_5'UTR	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	476	Serine protease.				protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)	p.V476V(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						AGCCGCTGTGCACAGCACACG	0.622																																					p.V476V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1428A	10						.						44.0	39.0	41.0					10																	71902479		2203	4299	6502	71572485	SO:0001819	synonymous_variant	219743	exon3			BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.1428G>A	10.37:g.71902479C>T			71572485	NM_173555	Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Silent	SNP	ENST00000287078.6	37	CCDS31213.1																																																																																				0.622	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555	
CDH23	64072	broad.mit.edu	37	10	73461946	73461946	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:73461946A>C	ENST00000224721.6	+	22	2585	c.2580A>C	c.(2578-2580)aaA>aaC	p.K860N	CDH23_ENST00000299366.7_Missense_Mutation_p.K900N	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	855	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.K860N(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGATGCGCAAAATCGTCGTCT	0.637																																					p.K855N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2565C	10						.						122.0	142.0	135.0					10																	73461946		2129	4209	6338	73131952	SO:0001583	missense	64072	exon22			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2580A>C	10.37:g.73461946A>C	ENSP00000224721:p.Lys860Asn		73131952	NM_022124	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	A	11.27	1.589263	0.28357	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.56	2.24	0.28232	Cadherin (4);Cadherin-like (1);	0.475201	0.20380	N	0.093464	T	0.39200	0.1069	N	0.21097	0.63	0.80722	D	1	B;B;B	0.18310	0.027;0.001;0.007	B;B;B	0.18871	0.02;0.002;0.023	T	0.11203	-1.0597	9	0.15066	T	0.55	.	11.4991	0.50426	0.2348:0.0:0.7652:0.0	.	855;858;855	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	N	860;855;855;858;858;372	.	ENSP00000224721:K860N	K	+	3	2	CDH23	73131952	1.000000	0.71417	0.987000	0.45799	0.171000	0.22731	2.394000	0.44450	0.698000	0.31739	-0.366000	0.07423	AAA		0.637	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
NDST2	8509	broad.mit.edu	37	10	75567929	75567929	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:75567929C>T	ENST00000309979.6	-	3	774	c.218G>A	c.(217-219)cGg>cAg	p.R73Q	RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.R73Q|NDST2_ENST00000398701.2_5'Flank|NDST2_ENST00000299641.4_Intron			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	73	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)	p.R73Q(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CCTGGGGGGCCGAGGTGGAAC	0.637																																					p.R73Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G218A	10						.						34.0	31.0	32.0					10																	75567929		2203	4300	6503	75237935	SO:0001583	missense	8509	exon3			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.218G>A	10.37:g.75567929C>T	ENSP00000310657:p.Arg73Gln		75237935	NM_003635	Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442124	0.25987	.	.	ENSG00000166507	ENST00000309979	T	0.37235	1.21	5.53	3.68	0.42216	.	0.184079	0.47093	N	0.000257	T	0.28928	0.0718	L	0.45581	1.43	0.09310	N	1	B	0.24920	0.114	B	0.24269	0.052	T	0.22243	-1.0222	10	0.49607	T	0.09	.	6.8378	0.23945	0.0:0.6107:0.0:0.3893	.	73	P52849	NDST2_HUMAN	Q	73	ENSP00000310657:R73Q	ENSP00000310657:R73Q	R	-	2	0	NDST2	75237935	0.604000	0.26932	0.490000	0.27465	0.986000	0.74619	0.832000	0.27490	0.700000	0.31782	0.561000	0.74099	CGG		0.637	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635	
CAMK2G	818	broad.mit.edu	37	10	75609030	75609030	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:75609030T>C	ENST00000351293.3	-	6	460	c.403A>G	c.(403-405)Agg>Ggg	p.R135G	RP11-574K11.8_ENST00000446730.2_RNA|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000305762.7_Missense_Mutation_p.R135G|CAMK2G_ENST00000423381.1_Missense_Mutation_p.R135G|CAMK2G_ENST00000372765.1_Missense_Mutation_p.R135G|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000394762.2_Missense_Mutation_p.R135G|CAMK2G_ENST00000322635.3_Missense_Mutation_p.R135G|CAMK2G_ENST00000322680.3_Missense_Mutation_p.R135G	NM_001222.3|NM_172173.2	NP_001213.2|NP_751913.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)	p.R135G(2)		kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	TTCAGGTCCCTGTGGACGATG	0.517											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R135G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A403G	10						.						116.0	92.0	100.0					10																	75609030		2203	4300	6503	75279036	SO:0001583	missense	818	exon6			U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"""	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000351293.3:c.403A>G	10.37:g.75609030T>C	ENSP00000277853:p.Arg135Gly	1161	75279036	NM_172169	O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Missense_Mutation	SNP	ENST00000351293.3	37	CCDS7336.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.043611	0.55003	.	.	ENSG00000148660	ENST00000351293;ENST00000322635;ENST00000423381;ENST00000394763;ENST00000322680;ENST00000394762;ENST00000433289;ENST00000305762;ENST00000372765	T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	5.76	-1.25	0.09405	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	0.74145	0.3678	M	0.89658	3.05	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.998;1.0;0.997;0.99;0.995;0.999;0.999;0.999	T	0.81267	-0.1010	10	0.87932	D	0	.	21.4156	0.99953	0.0:0.0:0.1567:0.8433	.	127;135;135;135;135;135;135;135	B3KY86;Q13555-4;Q13555-6;Q13555-10;A8K6N9;Q13555;Q13555-5;Q13555-8	.;.;.;.;.;KCC2G_HUMAN;.;.	G	135;135;135;135;135;135;70;135;135	ENSP00000277853:R135G;ENSP00000315599:R135G;ENSP00000410298:R135G;ENSP00000319060:R135G;ENSP00000378243:R135G;ENSP00000393784:R70G;ENSP00000307082:R135G;ENSP00000361851:R135G	ENSP00000307082:R135G	R	-	1	2	CAMK2G	75279036	1.000000	0.71417	0.972000	0.41901	0.881000	0.50899	1.003000	0.29809	-0.558000	0.06118	-1.236000	0.01555	AGG		0.517	CAMK2G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048715.1	NM_172169	
ZCCHC24	219654	broad.mit.edu	37	10	81192473	81192473	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:81192473G>A	ENST00000372336.3	-	2	474	c.288C>T	c.(286-288)ggC>ggT	p.G96G	ZCCHC24_ENST00000372333.3_Missense_Mutation_p.L37F	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	96							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G96G(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						TGTTGAGGGAGCCATAGGGTG	0.607																																					p.G96G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C288T	10						.						91.0	65.0	74.0					10																	81192473		2203	4300	6503	80862479	SO:0001819	synonymous_variant	219654	exon2			AK075279	CCDS7359.1	10q22.3	2014-02-20	2008-06-23	2008-06-23	ENSG00000165424	ENSG00000165424		"""Zinc fingers, CCHC domain containing"""	26911	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 8"""		"""chromosome 10 open reading frame 56"""	C10orf56		12477932	Standard	NM_153367		Approved	FLJ90798, Z3CXXC8	uc010qlr.2	Q8N2G6	OTTHUMG00000018561	ENST00000372336.3:c.288C>T	10.37:g.81192473G>A			80862479	NM_153367	Q5U5T9|Q8TAG0	Silent	SNP	ENST00000372336.3	37	CCDS7359.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802727	0.50315	.	.	ENSG00000165424	ENST00000372333	.	.	.	5.96	5.05	0.67936	.	.	.	.	.	T	0.36663	0.0975	.	.	.	0.26144	N	0.98024	P	0.38078	0.617	B	0.36289	0.221	T	0.33007	-0.9885	7	0.87932	D	0	-16.3886	11.0951	0.48139	0.0677:0.1278:0.8045:0.0	.	37	Q5W133	.	F	37	.	ENSP00000361408:L37F	L	-	1	0	ZCCHC24	80862479	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.283000	0.43470	1.498000	0.48600	0.655000	0.94253	CTC		0.607	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048947.1	NM_153367	
FAM213A	84293	broad.mit.edu	37	10	82180354	82180354	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:82180354C>T	ENST00000372181.1	+	1	601	c.131C>T	c.(130-132)gCg>gTg	p.A44V	FAM213A_ENST00000372188.1_Missense_Mutation_p.A44V|FAM213A_ENST00000372187.5_Missense_Mutation_p.A44V|FAM213A_ENST00000372185.1_Missense_Mutation_p.A33V	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	F213A_HUMAN	family with sequence similarity 213, member A	44	Thioredoxin fold. {ECO:0000250}.				oxidation-reduction process (GO:0055114)|regulation of osteoclast differentiation (GO:0045670)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)	p.A44V(1)									CCCCAGAAAGCGGCCCTGGAG	0.557																																					p.A44V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C131T	10						.						68.0	67.0	67.0					10																	82180354		2203	4300	6503	82170334	SO:0001583	missense	84293	exon2			AF086462	CCDS7368.1, CCDS58089.1	10q23.1	2011-12-08	2011-12-08	2011-12-08	ENSG00000122378	ENSG00000122378			28651	protein-coding gene	gene with protein product	"""peroxiredoxin-like 2 activated in M-CSF stimulated monocytes"""		"""chromosome 10 open reading frame 58"""	C10orf58		11483580, 19951071	Standard	NM_032333		Approved	MGC4248, PAMM	uc001kce.4	Q9BRX8	OTTHUMG00000018614	ENST00000372181.1:c.131C>T	10.37:g.82180354C>T	ENSP00000361254:p.Ala44Val		82170334	NM_032333	B2RD81|Q6UW08|Q8N2K3|Q8NBK9|Q96JR0	Missense_Mutation	SNP	ENST00000372181.1	37	CCDS7368.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675250	0.88445	.	.	ENSG00000122378	ENST00000372188;ENST00000372187;ENST00000372185;ENST00000372181	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.79902	0.4526	M	0.79475	2.455	0.52099	D	0.999945	D	0.89917	1.0	D	0.76575	0.988	T	0.80042	-0.1548	9	0.51188	T	0.08	1.7619	17.4929	0.87709	0.0:1.0:0.0:0.0	.	44	Q9BRX8	PAMM_HUMAN	V	44;44;33;44	.	ENSP00000361254:A44V	A	+	2	0	C10orf58	82170334	1.000000	0.71417	0.057000	0.19452	0.889000	0.51656	7.501000	0.81600	2.724000	0.93272	0.655000	0.94253	GCG		0.557	FAM213A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049077.2		
PDE6C	5146	broad.mit.edu	37	10	95372835	95372835	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:95372835delC	ENST00000371447.3	+	1	491	c.353delC	c.(352-354)accfs	p.T118fs		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	118	GAF 1.				phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.T120fs*23(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	CTGGATGTCACCCCCACCTCC	0.582																																					p.T118fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.353delC	10						.						61.0	60.0	60.0					10																	95372835		2203	4300	6503	95362825	SO:0001589	frameshift_variant	5146	exon1			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.353delC	10.37:g.95372835delC	ENSP00000360502:p.Thr118fs		95362825	NM_006204	A6NCR6|Q5VY29	Frame_Shift_Del	DEL	ENST00000371447.3	37	CCDS7429.1																																																																																				0.582	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204	
SLC35G1	159371	broad.mit.edu	37	10	95660637	95660637	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:95660637C>T	ENST00000427197.1	+	3	549	c.488C>T	c.(487-489)aCg>aTg	p.T163M	SLC35G1_ENST00000371408.3_Missense_Mutation_p.T162M	NM_001134658.1|NM_153226.2	NP_001128130.1|NP_694958.1	Q2M3R5	S35G1_HUMAN	solute carrier family 35, member G1	163	EamA 1.				calcium ion export from cell (GO:1990034)|cytosolic calcium ion homeostasis (GO:0051480)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T162M(1)									ACAGTTATCACGTTTAGCAGT	0.438																																					p.T162M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C485T	10						.						185.0	159.0	168.0					10																	95660637		2203	4300	6503	95650627	SO:0001583	missense	159371	exon3			AK091309	CCDS7432.1, CCDS44459.1	10q23.33	2013-05-22	2011-08-03	2011-08-03	ENSG00000176273	ENSG00000176273		"""Solute carriers"""	26607	protein-coding gene	gene with protein product			"""transmembrane protein 20"""	TMEM20		21569384	Standard	NM_153226		Approved	FLJ33990, C10orf60	uc001kjg.2	Q2M3R5	OTTHUMG00000018779	ENST00000427197.1:c.488C>T	10.37:g.95660637C>T	ENSP00000400932:p.Thr163Met		95650627	NM_153226	Q86YG5|Q8NBA5	Missense_Mutation	SNP	ENST00000427197.1	37	CCDS44459.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368338	0.42003	.	.	ENSG00000176273	ENST00000371408;ENST00000427197	T;T	0.53857	0.6;0.6	5.95	5.95	0.96441	.	0.241239	0.47455	D	0.000221	T	0.50514	0.1620	L	0.44542	1.39	0.30825	N	0.737348	B;B;B	0.31227	0.251;0.314;0.268	B;B;B	0.33392	0.163;0.109;0.045	T	0.50127	-0.8864	10	0.30854	T	0.27	.	20.3812	0.98933	0.0:1.0:0.0:0.0	.	146;163;162	B7ZKP0;Q2M3R5;Q2M3R5-2	.;S35G1_HUMAN;.	M	162;163	ENSP00000360462:T162M;ENSP00000400932:T163M	ENSP00000360462:T162M	T	+	2	0	SLC35G1	95650627	0.983000	0.35010	0.242000	0.24170	0.984000	0.73092	3.543000	0.53633	2.821000	0.97095	0.650000	0.86243	ACG		0.438	SLC35G1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_153226	
PLCE1	51196	broad.mit.edu	37	10	96025670	96025670	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:96025670G>A	ENST00000371380.3	+	15	4471	c.4236G>A	c.(4234-4236)acG>acA	p.T1412T	PLCE1_ENST00000371375.1_Silent_p.T1104T|PLCE1_ENST00000371385.3_Silent_p.T1104T|PLCE1_ENST00000260766.3_Silent_p.T1412T			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1412	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.T1412T(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCTACCTCACGGGCCATCAGC	0.408																																					p.T1104T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3312A	10						.						94.0	94.0	94.0					10																	96025670		1888	4117	6005	96015660	SO:0001819	synonymous_variant	51196	exon15				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.4236G>A	10.37:g.96025670G>A			96015660	NM_001165979	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	CCDS41552.1																																																																																				0.408	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341	
NOC3L	64318	broad.mit.edu	37	10	96112806	96112806	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:96112806delT	ENST00000371361.3	-	7	805	c.705delA	c.(703-705)aaafs	p.K235fs	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Frame_Shift_Del_p.K235fs|NOC3L_ENST00000543788.1_5'Flank	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	235					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.K235fs*2(1)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ATTCTTTCAATTTTTTAATCT	0.353																																					p.K235fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.705delA	10						.						67.0	71.0	70.0					10																	96112806		2203	4299	6502	96102796	SO:0001589	frameshift_variant	64318	exon7			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.705delA	10.37:g.96112806delT	ENSP00000360412:p.Lys235fs		96102796	NM_022451	Q9H5M6|Q9H9D8	Frame_Shift_Del	DEL	ENST00000371361.3	37	CCDS7433.1																																																																																				0.353	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451	
NOC3L	64318	broad.mit.edu	37	10	96117053	96117053	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:96117053C>T	ENST00000371361.3	-	4	486	c.386G>A	c.(385-387)cGc>cAc	p.R129H	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Missense_Mutation_p.R129H	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	129					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.R129H(1)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ATCTATAATGCGTTCATGCTT	0.348																																					p.R129H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G386A	10						.						106.0	97.0	100.0					10																	96117053		2203	4300	6503	96107043	SO:0001583	missense	64318	exon4			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.386G>A	10.37:g.96117053C>T	ENSP00000360412:p.Arg129His		96107043	NM_022451	Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	C	7.912	0.736721	0.15574	.	.	ENSG00000173145	ENST00000371361;ENST00000371350	T;T	0.11930	2.73;2.73	5.05	-9.15	0.00698	.	0.890661	0.10128	N	0.712429	T	0.06050	0.0157	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38308	-0.9667	10	0.39692	T	0.17	-2.2718	14.2141	0.65781	0.0:0.1917:0.0909:0.7174	.	129	Q8WTT2	NOC3L_HUMAN	H	129	ENSP00000360412:R129H;ENSP00000360401:R129H	ENSP00000360401:R129H	R	-	2	0	NOC3L	96107043	0.000000	0.05858	0.000000	0.03702	0.394000	0.30568	-0.848000	0.04326	-2.258000	0.00694	-1.581000	0.00855	CGC		0.348	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451	
CYP2C18	1562	broad.mit.edu	37	10	96454744	96454744	+	Silent	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:96454744T>C	ENST00000285979.6	+	4	751	c.552T>C	c.(550-552)caT>caC	p.H184H	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Silent_p.H184H	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	184					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.H184H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TTATTTTCCATGATCGATTTG	0.398																																					p.H184H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T552C	10						.						109.0	105.0	107.0					10																	96454744		2203	4300	6503	96444734	SO:0001819	synonymous_variant	1562	exon4			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.552T>C	10.37:g.96454744T>C			96444734	NM_000772	B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Silent	SNP	ENST00000285979.6	37	CCDS7435.1																																																																																				0.398	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772	
DCLRE1A	9937	broad.mit.edu	37	10	115612853	115612853	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:115612853delT	ENST00000361384.2	-	1	1006	c.89delA	c.(88-90)aatfs	p.N30fs	DCLRE1A_ENST00000369305.1_Frame_Shift_Del_p.N30fs|NHLRC2_ENST00000369301.3_5'Flank|DCLRE1A_ENST00000476112.1_5'Flank	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	30	Nuclear localization region.				mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)		p.N30fs*3(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TTTTAGAATATTTTTAGAGCC	0.348								Other identified genes with known or suspected DNA repair function																													p.N30fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.89delA	10						.						57.0	63.0	61.0					10																	115612853		2203	4299	6502	115602843	SO:0001589	frameshift_variant	9937	exon1				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.89delA	10.37:g.115612853delT	ENSP00000355185:p.Asn30fs		115602843	NM_014881	D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Frame_Shift_Del	DEL	ENST00000361384.2	37	CCDS7584.1																																																																																				0.348	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881	
MTG1	92170	broad.mit.edu	37	10	135215082	135215082	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr10:135215082G>A	ENST00000317502.6	+	7	611	c.561G>A	c.(559-561)atG>atA	p.M187I	MTG1_ENST00000477902.2_Missense_Mutation_p.M146I|RP11-108K14.8_ENST00000468317.2_Missense_Mutation_p.M192I	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	187	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.M187I(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		GAGCTGTGATGTCCAAAATTC	0.572																																					p.M187I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G561A	10						.						59.0	60.0	60.0					10																	135215082		2203	4300	6503	135065072	SO:0001583	missense	92170	exon7				CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.561G>A	10.37:g.135215082G>A	ENSP00000323047:p.Met187Ile		135065072	NM_138384	Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	CCDS31320.1	.	.	.	.	.	.	.	.	.	.	g	11.71	1.720647	0.30503	.	.	ENSG00000254536;ENSG00000148824;ENSG00000148824	ENST00000468317;ENST00000317502;ENST00000537620	T;T	0.12039	2.72;2.72	5.44	2.15	0.27550	GTP-binding domain, HSR1-related (1);	0.406107	0.22142	U	0.064029	T	0.05686	0.0149	N	0.05031	-0.125	0.25226	N	0.989867	B	0.26708	0.157	B	0.33121	0.158	T	0.34601	-0.9822	10	0.25106	T	0.35	-2.2921	2.1492	0.03795	0.1083:0.1593:0.4061:0.3263	.	187	Q9BT17	MTG1_HUMAN	I	192;187;146	ENSP00000436767:M192I;ENSP00000323047:M187I	ENSP00000323047:M187I	M	+	3	0	AL360181.1;MTG1	135065072	0.995000	0.38212	0.999000	0.59377	0.655000	0.38815	0.099000	0.15210	0.098000	0.17522	0.446000	0.29264	ATG		0.572	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384	
AHNAK	79026	broad.mit.edu	37	11	62299919	62299920	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:62299919_62299920insT	ENST00000378024.4	-	5	2243_2244	c.1969_1970insA	c.(1969-1971)atcfs	p.I657fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	657					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.I657fs*25(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGAAATACTGATATCTCCTTTG	0.495																																					p.I657fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1970_1971insA	11						.																																			62056496	SO:0001589	frameshift_variant	79026	exon5			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1970dupA	11.37:g.62299920_62299920dupT	ENSP00000367263:p.Ile657fs		62056495	NM_001620	A1A586	Frame_Shift_Ins	INS	ENST00000378024.4	37	CCDS31584.1																																																																																				0.495	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
MRVI1	10335	broad.mit.edu	37	11	10597936	10597936	+	Silent	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:10597936G>T	ENST00000436272.1	-	20	2679	c.2601C>A	c.(2599-2601)gcC>gcA	p.A867A	MRVI1_ENST00000424001.1_Silent_p.A579A|MRVI1_ENST00000534266.2_Silent_p.A579A|MRVI1_ENST00000527509.2_Silent_p.A803A|MRVI1_ENST00000558540.1_Silent_p.A579A|MRVI1_ENST00000552103.1_Silent_p.A803A|MRVI1_ENST00000423302.2_Silent_p.A894A|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000531107.1_Silent_p.A886A|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000421747.1_Silent_p.A885A|MRVI1_ENST00000541483.1_Silent_p.A688A|MRVI1_ENST00000547195.1_Silent_p.A803A|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000545852.1_Silent_p.A579A			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	867					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)		p.A867A(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		AGTCCCTCTGGGCTGCCGAGC	0.562																																					p.A803A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2409A	11						.						69.0	71.0	70.0					11																	10597936		1992	4156	6148	10554512	SO:0001819	synonymous_variant	10335	exon21			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.2601C>A	11.37:g.10597936G>T			10554512	NM_001100163	B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Silent	SNP	ENST00000436272.1	37																																																																																					0.562	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579	
BIRC2	329	broad.mit.edu	37	11	102220647	102220647	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:102220647T>C	ENST00000227758.2	+	2	1461	c.62T>C	c.(61-63)aTa>aCa	p.I21T	BIRC2_ENST00000530675.1_Intron|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_5'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	21					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I21T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		ATTAAGAGTATAATGGAAGAT	0.378																																					p.I21T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T62C	11						.						113.0	111.0	111.0					11																	102220647		2203	4299	6502	101725857	SO:0001583	missense	329	exon2			L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	590	protein-coding gene	gene with protein product	"""NFR2-TRAF signalling complex protein"", ""apoptosis inhibitor 1"""	601712	"""baculoviral IAP repeat-containing 2"""	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.62T>C	11.37:g.102220647T>C	ENSP00000227758:p.Ile21Thr		101725857	NM_001166	B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	37	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	T	8.921	0.960981	0.18583	.	.	ENSG00000110330	ENST00000227758;ENST00000541741	T	0.22743	1.94	5.35	1.59	0.23543	.	0.548035	0.20870	N	0.084196	T	0.10852	0.0265	N	0.24115	0.695	0.18873	N	0.999981	B	0.02656	0.0	B	0.06405	0.002	T	0.18681	-1.0329	10	0.38643	T	0.18	-3.4881	3.0752	0.06243	0.3097:0.2415:0.0:0.4488	.	21	Q13490	BIRC2_HUMAN	T	21	ENSP00000227758:I21T	ENSP00000227758:I21T	I	+	2	0	BIRC2	101725857	0.092000	0.21681	0.527000	0.27925	0.746000	0.42486	0.211000	0.17474	0.443000	0.26582	0.533000	0.62120	ATA		0.378	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166	
SLN	6588	broad.mit.edu	37	11	107578640	107578640	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:107578640C>T	ENST00000531293.1	-	3	369	c.17G>A	c.(16-18)cGg>cAg	p.R6Q	SLN_ENST00000525934.1_Missense_Mutation_p.R6Q|SLN_ENST00000305991.2_Missense_Mutation_p.R6Q			O00631	SARCO_HUMAN	sarcolipin	6					calcium ion transport (GO:0006816)|negative regulation of calcium ion binding (GO:1901877)|negative regulation of calcium ion import (GO:0090281)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of catalytic activity (GO:0043086)|negative regulation of protein complex disassembly (GO:0043242)|positive regulation of protein depolymerization (GO:1901881)|regulation of calcium ion transport (GO:0051924)|regulation of calcium-transporting ATPase activity (GO:1901894)|regulation of relaxation of muscle (GO:1901077)|sarcoplasmic reticulum calcium ion transport (GO:0070296)	integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	ATPase binding (GO:0051117)|enzyme inhibitor activity (GO:0004857)	p.R6Q(1)		large_intestine(1)|lung(1)	2		Melanoma(852;1.46e-05)|all_epithelial(67;1.72e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;2.71e-05)|Epithelial(105;0.000112)|all cancers(92;0.00219)		AAACAGCTCCCGGGTGTTTAT	0.498																																					p.R6Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G17A	11						.						119.0	122.0	121.0					11																	107578640		2201	4298	6499	107083850	SO:0001583	missense	6588	exon2			U96094	CCDS31667.1	11q22.3	2014-04-11			ENSG00000170290	ENSG00000170290			11089	protein-coding gene	gene with protein product		602203				9367679	Standard	NM_003063		Approved	MGC12301, MGC125854, MGC125855	uc001pjp.3	O00631	OTTHUMG00000166364	ENST00000531293.1:c.17G>A	11.37:g.107578640C>T	ENSP00000435380:p.Arg6Gln		107083850	NM_003063	Q6ICV3	Missense_Mutation	SNP	ENST00000531293.1	37	CCDS31667.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799976	0.50208	.	.	ENSG00000170290	ENST00000531293;ENST00000305991;ENST00000525934	.	.	.	5.66	3.4	0.38934	.	0.188611	0.26404	N	0.024561	T	0.30417	0.0764	.	.	.	0.24863	N	0.992339	B	0.21753	0.06	B	0.15870	0.014	T	0.26258	-1.0108	8	0.87932	D	0	.	7.3059	0.26447	0.0:0.7556:0.0:0.2444	.	6	O00631	SARCO_HUMAN	Q	6	.	ENSP00000304707:R6Q	R	-	2	0	SLN	107083850	0.994000	0.37717	0.768000	0.31515	0.733000	0.41908	0.228000	0.17814	0.504000	0.28082	0.650000	0.86243	CGG		0.498	SLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389414.1	NM_003063	
ATM	472	broad.mit.edu	37	11	108142126	108142126	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:108142126G>A	ENST00000452508.2	+	21	3259	c.3070G>A	c.(3070-3072)Gca>Aca	p.A1024T	ATM_ENST00000278616.4_Missense_Mutation_p.A1024T			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1024					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.A1024T(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AGTAATTGGAGCATTTTGGTA	0.378			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.A1024T		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3070A	11						.						254.0	234.0	241.0					11																	108142126		2201	4298	6499	107647336	SO:0001583	missense	472	exon20	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3070G>A	11.37:g.108142126G>A	ENSP00000388058:p.Ala1024Thr		107647336	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485859	0.84854	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.72505	-0.66;-0.66;-0.66	5.71	5.71	0.89125	Armadillo-type fold (1);	0.155787	0.56097	D	0.000023	T	0.70002	0.3174	M	0.61703	1.905	0.39762	D	0.972032	P	0.42785	0.79	B	0.40199	0.322	T	0.68591	-0.5368	10	0.20519	T	0.43	.	19.839	0.96675	0.0:0.0:1.0:0.0	.	1024	Q13315	ATM_HUMAN	T	1024	ENSP00000435747:A1024T;ENSP00000278616:A1024T;ENSP00000388058:A1024T	ENSP00000278616:A1024T	A	+	1	0	ATM	107647336	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.683000	0.84093	2.682000	0.91365	0.491000	0.48974	GCA		0.378	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ATM	472	broad.mit.edu	37	11	108186756	108186756	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:108186756C>T	ENST00000452508.2	+	43	6303	c.6114C>T	c.(6112-6114)caC>caT	p.H2038H	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Silent_p.H2038H			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2038	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.H2038H(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CATATGAACACGAAGCAATGT	0.398			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.H2038H		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6114T	11						.						100.0	91.0	94.0					11																	108186756		2201	4298	6499	107691966	SO:0001819	synonymous_variant	472	exon42	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6114C>T	11.37:g.108186756C>T			107691966	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	CCDS31669.1																																																																																				0.398	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
KDELC2	143888	broad.mit.edu	37	11	108348342	108348342	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:108348342C>T	ENST00000323468.5	-	7	1455	c.1390G>A	c.(1390-1392)Gta>Ata	p.V464I	KDELC2_ENST00000434945.2_Missense_Mutation_p.V408I|KDELC2_ENST00000532730.1_5'UTR	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	464						endoplasmic reticulum (GO:0005783)		p.V464I(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		ACCTGCAGTACTTGGTAATAG	0.512																																					p.V464I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1390A	11						.						201.0	197.0	198.0					11																	108348342		1999	4187	6186	107853552	SO:0001583	missense	143888	exon7			AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.1390G>A	11.37:g.108348342C>T	ENSP00000315386:p.Val464Ile		107853552	NM_153705	Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	ENST00000323468.5	37	CCDS41711.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.08|14.08	2.427900|2.427900	0.43122|0.43122	.|.	.|.	ENSG00000178202|ENSG00000178202	ENST00000530318|ENST00000323468;ENST00000434945	.|T;T	.|0.22134	.|1.97;1.97	4.22|4.22	4.22|4.22	0.49857|0.49857	.|.	.|0.187932	.|0.46145	.|D	.|0.000316	T|T	0.28863|0.28863	0.0716|0.0716	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	.|B;B	.|0.29378	.|0.238;0.243	.|B;B	.|0.33121	.|0.158;0.138	T|T	0.17561|0.17561	-1.0365|-1.0365	5|10	.|0.72032	.|D	.|0.01	-30.852|-30.852	13.6391|13.6391	0.62239|0.62239	0.0:0.8442:0.1557:0.0|0.0:0.8442:0.1557:0.0	.|.	.|464;408	.|Q7Z4H8;Q7Z4H8-2	.|KDEL2_HUMAN;.	N|I	116|464;408	.|ENSP00000315386:V464I;ENSP00000413429:V408I	.|ENSP00000315386:V464I	S|V	-|-	2|1	0|0	KDELC2|KDELC2	107853552|107853552	0.996000|0.996000	0.38824|0.38824	0.042000|0.042000	0.18584|0.18584	0.099000|0.099000	0.18886|0.18886	4.015000|4.015000	0.57152|0.57152	2.642000|2.642000	0.89623|0.89623	0.561000|0.561000	0.74099|0.74099	AGT|GTA		0.512	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705	
DDX10	1662	broad.mit.edu	37	11	108546426	108546426	+	Silent	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:108546426T>C	ENST00000322536.3	+	3	480	c.351T>C	c.(349-351)tcT>tcC	p.S117S	DDX10_ENST00000526794.1_Silent_p.S117S	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	117	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.S117S(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AAACTGGATCTGGCAAGACTC	0.428			T	NUP98	AML*																																p.S117S			Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T351C	11						.						156.0	147.0	150.0					11																	108546426		2201	4298	6499	108051636	SO:0001819	synonymous_variant	1662	exon3			U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.351T>C	11.37:g.108546426T>C			108051636	NM_004398	B2RCQ3|Q5BJD8	Silent	SNP	ENST00000322536.3	37	CCDS8342.1																																																																																				0.428	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398	
AMICA1	120425	broad.mit.edu	37	11	118083239	118083239	+	Silent	SNP	C	C	T	rs201301336		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:118083239C>T	ENST00000356289.5	-	3	254	c.81G>A	c.(79-81)ccG>ccA	p.P27P	AMICA1_ENST00000526620.1_5'UTR|AMICA1_ENST00000533261.1_Silent_p.P27P|AMICA1_ENST00000292067.7_Silent_p.P17P	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	27	Ig-like V-type 1.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)	p.P17P(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TTAGCTCAGGCGGGGAAACAT	0.413																																					p.P17P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G51A	11						.	C	,	0,4400		0,0,2200	86.0	78.0	80.0		81,51	-0.5	0.0	11		80	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous	AMICA1	NM_001098526.1,NM_153206.2	,	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	,	27/395,17/385	118083239	1,12991	2200	4296	6496	117588449	SO:0001819	synonymous_variant	120425	exon2			AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.81G>A	11.37:g.118083239C>T			117588449	NM_153206	B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Silent	SNP	ENST00000356289.5	37	CCDS41723.1																																																																																				0.413	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206	
PVRL1	5818	broad.mit.edu	37	11	119535897	119535897	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:119535897C>T	ENST00000264025.3	-	6	1644	c.1114G>A	c.(1114-1116)Ggc>Agc	p.G372S	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	372					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.G372S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		ACGATCCCGCCGACCACAATC	0.672																																					p.G372S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1114A	11						.						76.0	62.0	67.0					11																	119535897		2198	4293	6491	119041107	SO:0001583	missense	5818	exon6			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1114G>A	11.37:g.119535897C>T	ENSP00000264025:p.Gly372Ser		119041107	NM_002855	O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	-	17.22	3.334347	0.60853	.	.	ENSG00000110400	ENST00000264025	T	0.76316	-1.01	3.9	3.9	0.45041	.	0.392934	0.25089	N	0.033238	T	0.57989	0.2091	N	0.22421	0.69	0.80722	D	1	P	0.47253	0.892	B	0.29663	0.105	T	0.61749	-0.6999	10	0.21014	T	0.42	.	15.7712	0.78170	0.0:1.0:0.0:0.0	.	372	Q15223	PVRL1_HUMAN	S	372	ENSP00000264025:G372S	ENSP00000264025:G372S	G	-	1	0	PVRL1	119041107	0.987000	0.35691	1.000000	0.80357	0.990000	0.78478	1.863000	0.39459	2.108000	0.64289	0.479000	0.44913	GGC		0.672	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1		
GRIK4	2900	broad.mit.edu	37	11	120827517	120827517	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:120827517C>T	ENST00000527524.2	+	16	2016	c.1729C>T	c.(1729-1731)Cac>Tac	p.H577Y	GRIK4_ENST00000438375.2_Missense_Mutation_p.H577Y	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	577					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.H577Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GTACAGCCCACACCCATGTGC	0.617																																					p.H577Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1729T	11						.						99.0	89.0	93.0					11																	120827517		2203	4299	6502	120332727	SO:0001583	missense	2900	exon14			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1729C>T	11.37:g.120827517C>T	ENSP00000435648:p.His577Tyr		120332727	NM_014619	A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878723	0.91740	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.13089	2.62;2.62	4.96	4.96	0.65561	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.24122	0.0584	L	0.29908	0.895	0.80722	D	1	P;P	0.48640	0.786;0.913	P;P	0.58620	0.791;0.842	T	0.01010	-1.1482	10	0.46703	T	0.11	.	18.1756	0.89760	0.0:1.0:0.0:0.0	.	577;577	A6H8K8;Q16099	.;GRIK4_HUMAN	Y	577	ENSP00000435648:H577Y;ENSP00000404063:H577Y	ENSP00000404063:H577Y	H	+	1	0	GRIK4	120332727	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.458000	0.83093	0.655000	0.94253	CAC		0.617	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619	
MUC5B	727897	broad.mit.edu	37	11	1269642	1269642	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:1269642C>T	ENST00000529681.1	+	31	11590	c.11532C>T	c.(11530-11532)acC>acT	p.T3844T	MUC5B_ENST00000447027.1_Silent_p.T3847T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3844	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCACAACCAGGGCCACCG	0.632																																					p.T3844T												.	.	0			c.C11532T	11						.						132.0	153.0	146.0					11																	1269642		2090	4184	6274	1226218	SO:0001819	synonymous_variant	727897	exon31			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11532C>T	11.37:g.1269642C>T			1226218	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																				0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
MUC5B	727897	broad.mit.edu	37	11	1272693	1272693	+	Silent	SNP	C	C	T	rs371188165	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:1272693C>T	ENST00000529681.1	+	31	14641	c.14583C>T	c.(14581-14583)acC>acT	p.T4861T	MUC5B_ENST00000447027.1_Silent_p.T4864T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4861	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T4816T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGGTGCCCACCGGTTCCACGG	0.642													c|||	6	0.00119808	0.0045	0.0	5008	,	,		19584	0.0		0.0	False		,,,				2504	0.0				p.T4861T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C14583T	11						.	C		8,4284		0,8,2138	81.0	101.0	95.0		14583	-3.8	0.0	11		95	0,8470		0,0,4235	no	coding-synonymous	MUC5B	NM_002458.2		0,8,6373	TT,TC,CC		0.0,0.1864,0.0627		4861/5763	1272693	8,12754	2146	4235	6381	1229269	SO:0001819	synonymous_variant	727897	exon31			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14583C>T	11.37:g.1272693C>T			1229269	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																				0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
BSX	390259	broad.mit.edu	37	11	122850030	122850030	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:122850030C>T	ENST00000343035.2	-	2	446	c.398G>A	c.(397-399)cGc>cAc	p.R133H		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	133					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R133H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GGACAGGTAGCGCTGGATCTC	0.667																																					p.R133H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G398A	11						.						60.0	71.0	68.0					11																	122850030		2072	4198	6270	122355240	SO:0001583	missense	390259	exon2				CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.398G>A	11.37:g.122850030C>T	ENSP00000344285:p.Arg133His		122355240	NM_001098169		Missense_Mutation	SNP	ENST00000343035.2	37	CCDS41728.1	.	.	.	.	.	.	.	.	.	.	C	31	5.085147	0.94100	.	.	ENSG00000188909	ENST00000343035	D	0.96522	-4.04	5.22	4.3	0.51218	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.104648	0.64402	D	0.000005	D	0.95671	0.8592	N	0.26042	0.785	0.80722	D	1	D	0.64830	0.994	D	0.63283	0.913	D	0.95850	0.8874	10	0.87932	D	0	.	13.1832	0.59666	0.0:0.9231:0.0:0.0769	.	133	Q3C1V8	BSH_HUMAN	H	133	ENSP00000344285:R133H	ENSP00000344285:R133H	R	-	2	0	BSX	122355240	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.963000	0.56773	2.454000	0.82982	0.655000	0.94253	CGC		0.667	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169	
CDON	50937	broad.mit.edu	37	11	125831661	125831661	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:125831661C>T	ENST00000392693.3	-	19	3716	c.3589G>A	c.(3589-3591)Gtc>Atc	p.V1197I	CDON_ENST00000263577.7_Missense_Mutation_p.V1197I|CDON_ENST00000531738.1_Missense_Mutation_p.V574I	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1197					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V1197I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TCAGAGCTGACGTCATTTACA	0.517																																					p.V1197I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3589A	11						.						92.0	70.0	78.0					11																	125831661		2201	4299	6500	125336871	SO:0001583	missense	50937	exon19			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.3589G>A	11.37:g.125831661C>T	ENSP00000376458:p.Val1197Ile		125336871	NM_016952	O14631	Missense_Mutation	SNP	ENST00000392693.3	37	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	C	2.692	-0.272845	0.05716	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.67698	-0.26;0.42;-0.28	5.98	-8.54	0.00912	.	1.253080	0.05741	N	0.601463	T	0.19366	0.0465	N	0.00197	-1.87	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36841	-0.9731	10	0.02654	T	1	-0.252	7.21	0.25929	0.1018:0.5133:0.1045:0.2804	.	1197;1197;574	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	I	1197;574;1197	ENSP00000376458:V1197I;ENSP00000432901:V574I;ENSP00000263577:V1197I	ENSP00000263577:V1197I	V	-	1	0	CDON	125336871	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.311000	0.08124	-1.418000	0.02014	-0.964000	0.02622	GTC		0.517	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952	
FAM118B	79607	broad.mit.edu	37	11	126110774	126110774	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:126110774A>T	ENST00000533050.1	+	4	667	c.174A>T	c.(172-174)caA>caT	p.Q58H	FAM118B_ENST00000525728.1_3'UTR|FAM118B_ENST00000529731.1_Missense_Mutation_p.Q58H|FAM118B_ENST00000360194.4_Missense_Mutation_p.Q58H	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	58								p.Q58H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		TTGCGCCCCAAGTTCCAGCCC	0.438																																					p.Q58H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A174T	11						.						192.0	206.0	201.0					11																	126110774		2201	4299	6500	125615984	SO:0001583	missense	79607	exon4			BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.174A>T	11.37:g.126110774A>T	ENSP00000433343:p.Gln58His		125615984	NM_024556	Q9H7B0	Missense_Mutation	SNP	ENST00000533050.1	37	CCDS8470.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.351096	0.61183	.	.	ENSG00000197798	ENST00000533050;ENST00000528985;ENST00000529731;ENST00000360194;ENST00000530043;ENST00000525338	T;T;T;T;T;T	0.52526	1.31;1.3;0.66;1.3;0.72;0.67	6.08	1.57	0.23409	.	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	N	0.14661	0.345	0.54753	D	0.999987	P;D;D	0.61697	0.899;0.99;0.99	P;D;D	0.72982	0.568;0.979;0.979	T	0.44711	-0.9310	10	0.45353	T	0.12	-26.7977	12.3895	0.55350	0.3344:0.0:0.6656:0.0	.	58;58;58	G3V179;E9PMJ2;Q9BPY3	.;.;F118B_HUMAN	H	58	ENSP00000433343:Q58H;ENSP00000434952:Q58H;ENSP00000432712:Q58H;ENSP00000353321:Q58H;ENSP00000437285:Q58H;ENSP00000435754:Q58H	ENSP00000353321:Q58H	Q	+	3	2	FAM118B	125615984	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	0.672000	0.25187	0.433000	0.26313	-0.462000	0.05337	CAA		0.438	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386346.1	NM_024556	
KIRREL3	84623	broad.mit.edu	37	11	126294638	126294638	+	Missense_Mutation	SNP	G	G	A	rs374832017		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:126294638G>A	ENST00000525144.2	-	17	2423	c.2174C>T	c.(2173-2175)aCg>aTg	p.T725M	KIRREL3_ENST00000529097.2_Missense_Mutation_p.T713M|KIRREL3_ENST00000416561.2_Missense_Mutation_p.T192M	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	725	Ser-rich.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T684M(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GTCACACTGCGTGTCCAGGAA	0.622																																					p.T725M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2174T	11						.	G	MET/THR	0,4364		0,0,2182	94.0	101.0	99.0		2174	4.0	1.0	11		99	1,8571		0,1,4285	no	missense	KIRREL3	NM_032531.3	81	0,1,6467	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	725/779	126294638	1,12935	2182	4286	6468	125799848	SO:0001583	missense	84623	exon17			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.2174C>T	11.37:g.126294638G>A	ENSP00000435466:p.Thr725Met		125799848	NM_032531	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916453	0.73098	0.0	1.17E-4	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000416561	T;T;T	0.47528	0.84;0.84;0.84	4.88	3.96	0.45880	.	0.061148	0.64402	D	0.000004	T	0.42675	0.1213	N	0.14661	0.345	0.51482	D	0.999925	D;D	0.65815	0.995;0.995	P;P	0.53146	0.719;0.719	T	0.43925	-0.9361	10	0.46703	T	0.11	-5.5763	14.353	0.66716	0.0:0.0:0.8508:0.1492	.	713;725	E9PRX9;Q8IZU9	.;KIRR3_HUMAN	M	725;713;192	ENSP00000435466:T725M;ENSP00000434081:T713M;ENSP00000408692:T192M	ENSP00000408692:T192M	T	-	2	0	KIRREL3	125799848	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.161000	0.94739	1.271000	0.44313	0.655000	0.94253	ACG		0.622	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531	
KCNJ5	3762	broad.mit.edu	37	11	128781565	128781565	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:128781565C>A	ENST00000338350.4	+	3	749	c.397C>A	c.(397-399)Ctc>Atc	p.L133I	KCNJ5_ENST00000533599.1_Missense_Mutation_p.L133I|KCNJ5_ENST00000529694.1_Missense_Mutation_p.L133I			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	133					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.L133I(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	TGTTGAAAACCTCAGTGGCTT	0.507																																					p.L133I	Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C397A	11						.						154.0	150.0	151.0					11																	128781565		2201	4297	6498	128286775	SO:0001583	missense	3762	exon2			D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.397C>A	11.37:g.128781565C>A	ENSP00000339960:p.Leu133Ile		128286775	NM_000890	B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637094	0.47049	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.93659	-3.26;-3.26;-3.26	5.46	5.46	0.80206	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.87920	0.6299	N	0.05383	-0.06	0.49798	D	0.999823	P	0.44006	0.824	P	0.48227	0.571	D	0.86613	0.1874	10	0.25751	T	0.34	.	12.6205	0.56600	0.0:0.9245:0.0:0.0755	.	133	P48544	IRK5_HUMAN	I	133	ENSP00000433295:L133I;ENSP00000339960:L133I;ENSP00000434266:L133I	ENSP00000339960:L133I	L	+	1	0	KCNJ5	128286775	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.999000	0.70665	2.556000	0.86216	0.561000	0.74099	CTC		0.507	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890	
ARHGAP32	9743	broad.mit.edu	37	11	128846505	128846505	+	Missense_Mutation	SNP	C	C	T	rs149060649		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:128846505C>T	ENST00000310343.9	-	19	2104	c.2105G>A	c.(2104-2106)cGt>cAt	p.R702H	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R353H|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R353H|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.R628H	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	702					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.R702H(1)|p.R353H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TTTAGCTGAACGGAGGGTTCC	0.363																																					p.R353H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1058A	11						.	C	HIS/ARG,HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	100.0	101.0	101.0		2105,1058	6.1	1.0	11	dbSNP_134	101	0,8594		0,0,4297	no	missense,missense	ARHGAP32	NM_001142685.1,NM_014715.3	29,29	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	702/2088,353/1739	128846505	1,12995	2201	4297	6498	128351715	SO:0001583	missense	9743	exon10			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2105G>A	11.37:g.128846505C>T	ENSP00000310561:p.Arg702His		128351715	NM_014715	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	35	5.440859	0.96168	2.27E-4	0.0	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	M	0.78049	2.395	0.58432	D	0.999999	D;D	0.63880	0.993;0.982	P;P	0.60068	0.868;0.657	T	0.41395	-0.9511	10	0.66056	D	0.02	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	636;702	Q86T64;A7KAX9	.;RHG32_HUMAN	H	702;353;628;636;353	ENSP00000310561:R702H;ENSP00000376425:R353H;ENSP00000432468:R628H;ENSP00000432862:R353H	ENSP00000310561:R702H	R	-	2	0	ARHGAP32	128351715	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	7.277000	0.78572	2.885000	0.99019	0.655000	0.94253	CGT		0.363	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715	
IGF2	3481	broad.mit.edu	37	11	2167538	2167538	+	Intron	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:2167538C>A	ENST00000300632.5	-	2	720				IGF2-AS_ENST00000445504.2_RNA|INS-IGF2_ENST00000481781.1_5'Flank|IGF2-AS_ENST00000381361.3_RNA|IGF2-AS_ENST00000381363.4_RNA	NM_001007139.4	NP_001007140.2	P01344	IGF2_HUMAN	insulin-like growth factor 2						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)	p.A123D(1)		central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ACAAACCCAGCTCCTTTCTCC	0.642																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	11						.						100.0	104.0	103.0					11																	2167538		1924	4137	6061	2124114	SO:0001627	intron_variant	51214	.			M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000300632.5:c.5+1257G>T	11.37:g.2167538C>A			2124114	.	B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Missense_Mutation	SNP	ENST00000300632.5	37	CCDS7728.1	.	.	.	.	.	.	.	.	.	.	C	9.477	1.097231	0.20552	.	.	ENSG00000099869	ENST00000381363	.	.	.	2.53	1.6	0.23607	.	.	.	.	.	T	0.43678	0.1258	.	.	.	0.09310	N	1	P	0.45348	0.856	P	0.47603	0.551	T	0.29579	-1.0007	7	0.87932	D	0	.	8.2797	0.31894	0.0:0.8622:0.0:0.1378	.	123	Q6U949	IG2AS_HUMAN	D	123	.	ENSP00000370766:A123D	A	+	2	0	IGF2AS	2124114	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	-0.060000	0.11712	0.169000	0.19679	-1.598000	0.00824	GCT		0.642	IGF2-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000612	
TSSC4	10078	broad.mit.edu	37	11	2424486	2424486	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:2424486G>A	ENST00000333256.6	+	3	1066	c.623G>A	c.(622-624)tGt>tAt	p.C208Y	TSSC4_ENST00000451491.2_Missense_Mutation_p.C208Y|TSSC4_ENST00000380996.5_Missense_Mutation_p.C144Y|TSSC4_ENST00000467308.1_Intron|AC124057.5_ENST00000433035.1_RNA|TSSC4_ENST00000380992.1_Intron			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	208								p.C208Y(1)		endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCTCCAGCTGTGGGGAGGGG	0.657																																					p.C208Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G623A	11						.						47.0	49.0	48.0					11																	2424486		2202	4298	6500	2381062	SO:0001583	missense	10078	exon2			AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895	ENST00000333256.6:c.623G>A	11.37:g.2424486G>A	ENSP00000331087:p.Cys208Tyr		2381062	NM_005706	C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	ENST00000333256.6	37	CCDS7735.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811101	0.50421	.	.	ENSG00000184281	ENST00000380996;ENST00000333256;ENST00000440813;ENST00000451491	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	3.67	3.67	0.42095	.	0.507607	0.18297	U	0.145538	T	0.51568	0.1682	M	0.69823	2.125	0.29754	N	0.836075	D;D	0.60160	0.987;0.987	P;P	0.52217	0.693;0.693	T	0.55335	-0.8157	10	0.66056	D	0.02	-3.7246	11.0464	0.47861	0.0:0.1888:0.8112:0.0	.	208;144	Q9Y5U2;Q9Y5U2-2	TSSC4_HUMAN;.	Y	144;208;144;208	ENSP00000370384:C144Y;ENSP00000331087:C208Y;ENSP00000416937:C144Y;ENSP00000411224:C208Y	ENSP00000331087:C208Y	C	+	2	0	TSSC4	2381062	0.935000	0.31712	0.362000	0.25862	0.773000	0.43773	1.257000	0.32932	2.079000	0.62486	0.462000	0.41574	TGT		0.657	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027369.3	NM_005706	
OR52K1	390036	broad.mit.edu	37	11	4510269	4510269	+	Missense_Mutation	SNP	C	C	A	rs369816695		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:4510269C>A	ENST00000307632.3	+	1	161	c.139C>A	c.(139-141)Ctt>Att	p.L47I		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L47I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAACTGTACCCTTCTCTTCAT	0.488																																					p.L47I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C139A	11						.						176.0	166.0	169.0					11																	4510269		2201	4298	6499	4466845	SO:0001583	missense	390036	exon1			AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"""GPCR / Class A : Olfactory receptors"""	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.139C>A	11.37:g.4510269C>A	ENSP00000302422:p.Leu47Ile		4466845	NM_001005171	B9EH54|Q6IFK5	Missense_Mutation	SNP	ENST00000307632.3	37	CCDS31352.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.609948	0.00842	.	.	ENSG00000196778	ENST00000307632	T	0.00408	7.54	3.83	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.191566	0.25422	N	0.030781	T	0.00328	0.0010	N	0.02775	-0.495	0.09310	N	1	D	0.76494	0.999	D	0.77557	0.99	T	0.65319	-0.6197	10	0.05959	T	0.93	.	11.5119	0.50498	0.0:0.8173:0.1827:0.0	.	47	Q8NGK4	O52K1_HUMAN	I	47	ENSP00000302422:L47I	ENSP00000302422:L47I	L	+	1	0	OR52K1	4466845	0.000000	0.05858	0.978000	0.43139	0.049000	0.14656	-0.639000	0.05446	2.429000	0.82318	0.603000	0.83216	CTT		0.488	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1	NM_001005171	
OR52J3	119679	broad.mit.edu	37	11	5068683	5068683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:5068683delA	ENST00000380370.1	+	1	928	c.928delA	c.(928-930)aaafs	p.K311fs		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K311fs?(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTTTTTACTAAAAAATAAGA	0.378																																					p.K310fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.928delA	11						.						30.0	31.0	31.0					11																	5068683		2198	4287	6485	5025259	SO:0001589	frameshift_variant	119679	exon1			AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.928delA	11.37:g.5068683delA	ENSP00000369728:p.Lys311fs		5025259	NM_001001916	Q6IFE4	Frame_Shift_Del	DEL	ENST00000380370.1	37	CCDS31370.1																																																																																				0.378	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916	
OR51V1	283111	broad.mit.edu	37	11	5221777	5221777	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:5221777A>G	ENST00000321255.1	-	1	153	c.154T>C	c.(154-156)Tgc>Cgc	p.C52R		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	52					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C52R(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAACCATGCAATTGCCCAAA	0.512																																					p.C52R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T154C	11						.						135.0	120.0	125.0					11																	5221777		2201	4298	6499	5178353	SO:0001583	missense	283111	exon1			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.154T>C	11.37:g.5221777A>G	ENSP00000321729:p.Cys52Arg		5178353	NM_001004760		Missense_Mutation	SNP	ENST00000321255.1	37	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	A	9.637	1.138030	0.21123	.	.	ENSG00000176742	ENST00000321255	T	0.00505	6.93	5.48	3.08	0.35506	GPCR, rhodopsin-like superfamily (1);	0.299772	0.24067	N	0.041843	T	0.02047	0.0064	M	0.90650	3.135	0.09310	N	0.999999	D	0.53885	0.963	D	0.65573	0.936	T	0.08827	-1.0703	10	0.59425	D	0.04	.	12.501	0.55955	0.4487:0.5513:0.0:0.0	.	52	Q9H2C8	O51V1_HUMAN	R	52	ENSP00000321729:C52R	ENSP00000321729:C52R	C	-	1	0	OR51V1	5178353	0.000000	0.05858	0.470000	0.27216	0.303000	0.27691	-1.238000	0.02919	0.469000	0.27268	0.528000	0.53228	TGC		0.512	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760	
TRIM6	117854	broad.mit.edu	37	11	5632025	5632025	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:5632025C>T	ENST00000278302.5	+	8	1060	c.920C>T	c.(919-921)cCa>cTa	p.P307L	TRIM6_ENST00000380097.3_Missense_Mutation_p.P335L|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000380107.1_Missense_Mutation_p.P281L|TRIM6_ENST00000481603.1_3'UTR|TRIM6_ENST00000506134.1_Missense_Mutation_p.P132L|TRIM6_ENST00000445329.1_Missense_Mutation_p.P132L|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000515022.1_Missense_Mutation_p.P132L|TRIM6_ENST00000507320.1_Missense_Mutation_p.P132L	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	307	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.P335L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACCCTGAATCCACACACAGCT	0.458																																					p.P335L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1004T	11						.						116.0	100.0	105.0					11																	5632025		2201	4297	6498	5588601	SO:0001583	missense	117854	exon8			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.920C>T	11.37:g.5632025C>T	ENSP00000278302:p.Pro307Leu		5588601	NM_001003818	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350808	0.82132	.	.	ENSG00000121236	ENST00000278302;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	4.2	4.2	0.49525	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.80732	0.4679	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.81914	0.965;0.995;0.989	D	0.83759	0.0213	9	0.62326	D	0.03	.	14.8442	0.70249	0.0:1.0:0.0:0.0	.	281;335;307	E9PFM0;Q9C030-2;Q9C030	.;.;TRIM6_HUMAN	L	307;132;281;335;132;214;132;132	ENSP00000278302:P307L;ENSP00000427704:P132L;ENSP00000369450:P281L;ENSP00000369440:P335L;ENSP00000399215:P132L;ENSP00000421802:P132L;ENSP00000421079:P132L	ENSP00000278302:P307L	P	+	2	0	TRIM6	5588601	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.036000	0.76524	2.633000	0.89246	0.467000	0.42956	CCA		0.458	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818	
OR56A1	120796	broad.mit.edu	37	11	6048667	6048667	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:6048667C>T	ENST00000316650.5	-	1	304	c.268G>A	c.(268-270)Gcc>Acc	p.A90T		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A90T(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAAGATGGCCAGGACCTTG	0.567																																					p.A90T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G268A	11						.						100.0	90.0	94.0					11																	6048667		2201	4296	6497	6005243	SO:0001583	missense	120796	exon1			AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.268G>A	11.37:g.6048667C>T	ENSP00000321246:p.Ala90Thr		6005243	NM_001001917	B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116654	0.37339	.	.	ENSG00000180934	ENST00000316650	T	0.00892	5.57	4.16	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.174236	0.26944	N	0.021704	T	0.01523	0.0049	L	0.60904	1.88	0.24303	N	0.995111	B	0.15473	0.013	B	0.21151	0.033	T	0.35674	-0.9779	10	0.46703	T	0.11	.	11.5621	0.50782	0.0:0.8186:0.1814:0.0	.	90	Q8NGH5	O56A1_HUMAN	T	90	ENSP00000321246:A90T	ENSP00000321246:A90T	A	-	1	0	OR56A1	6005243	0.000000	0.05858	1.000000	0.80357	0.815000	0.46073	-0.172000	0.09868	2.303000	0.77524	0.655000	0.94253	GCC		0.567	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917	
DCHS1	8642	broad.mit.edu	37	11	6661923	6661923	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:6661923C>T	ENST00000299441.3	-	2	1333	c.922G>A	c.(922-924)Gac>Aac	p.D308N		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	308	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D308N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGTGTGCGTCGATGGAGAAG	0.607																																					p.D308N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G922A	11						.						104.0	93.0	97.0					11																	6661923		2201	4296	6497	6618499	SO:0001583	missense	8642	exon2			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.922G>A	11.37:g.6661923C>T	ENSP00000299441:p.Asp308Asn		6618499	NM_003737	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.219018	0.58560	.	.	ENSG00000166341	ENST00000299441	T	0.62788	0.0	5.14	5.14	0.70334	Cadherin (4);Cadherin-like (1);	0.000000	0.47852	D	0.000208	T	0.51702	0.1690	N	0.03294	-0.36	0.53688	D	0.999975	P	0.51933	0.949	P	0.57776	0.827	T	0.57148	-0.7861	10	0.37606	T	0.19	.	11.1276	0.48328	0.0:0.9152:0.0:0.0848	.	308	Q96JQ0	PCD16_HUMAN	N	308	ENSP00000299441:D308N	ENSP00000299441:D308N	D	-	1	0	DCHS1	6618499	1.000000	0.71417	0.863000	0.33907	0.790000	0.44656	4.900000	0.63252	2.381000	0.81170	0.637000	0.83480	GAC		0.607	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737	
OR10A2	341276	broad.mit.edu	37	11	6891706	6891706	+	Missense_Mutation	SNP	T	T	C	rs377235695		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:6891706T>C	ENST00000307322.4	+	1	783	c.721T>C	c.(721-723)Tca>Cca	p.S241P		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S241P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTTCTATATATCATTAAGCCT	0.433																																					p.S241P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T721C	11						.						216.0	196.0	203.0					11																	6891706		2201	4296	6497	6848282	SO:0001583	missense	341276	exon1			BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.721T>C	11.37:g.6891706T>C	ENSP00000303862:p.Ser241Pro		6848282	NM_001004460	B2RNL9|Q6IFG9	Missense_Mutation	SNP	ENST00000307322.4	37	CCDS31415.1	.	.	.	.	.	.	.	.	.	.	t	10.32	1.318392	0.23994	.	.	ENSG00000170790	ENST00000307322	T	0.00051	8.81	4.18	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000020	T	0.00241	0.0007	L	0.33293	1	0.24490	N	0.994302	D	0.57257	0.979	P	0.62740	0.906	T	0.58624	-0.7604	10	0.72032	D	0.01	.	9.8662	0.41145	0.0:0.0:0.0:1.0	.	241	Q9H208	O10A2_HUMAN	P	241	ENSP00000303862:S241P	ENSP00000303862:S241P	S	+	1	0	OR10A2	6848282	0.000000	0.05858	0.971000	0.41717	0.100000	0.18952	-0.626000	0.05527	1.908000	0.55244	0.529000	0.55759	TCA		0.433	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460	
SCUBE2	57758	broad.mit.edu	37	11	9047358	9047358	+	Silent	SNP	G	G	A	rs149275001		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:9047358G>A	ENST00000309263.3	-	20	2730	c.2658C>T	c.(2656-2658)taC>taT	p.Y886Y	RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000457346.2_Silent_p.Y915Y|SCUBE2_ENST00000520467.1_Silent_p.Y858Y|SCUBE2_ENST00000450649.2_Silent_p.Y694Y			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	886	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.Y886Y(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)		TGGGGCGTTCGTAGGTCTGGC	0.512																																					p.Y858Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2574T	11						.	G	,	1,4401	2.1+/-5.4	0,1,2200	180.0	158.0	165.0		2082,2574	-9.4	0.5	11	dbSNP_134	165	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	SCUBE2	NM_001170690.1,NM_020974.2	,	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	,	694/808,858/972	9047358	1,12993	2201	4296	6497	9003934	SO:0001819	synonymous_variant	57758	exon20			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.2658C>T	11.37:g.9047358G>A			9003934	NM_020974	Q2NKQ8|Q6ZWI1	Silent	SNP	ENST00000309263.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.438|8.438	0.850119|0.850119	0.17034|0.17034	2.27E-4|2.27E-4	0.0|0.0	ENSG00000175356|ENSG00000175356	ENST00000528651|ENST00000519202	.|.	.|.	.|.	5.39|5.39	-9.42|-9.42	0.00610|0.00610	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63034	.|0.2477	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72330	.|-0.4326	.|4	.|.	.|.	.|.	.|.	17.9296|17.9296	0.88992|0.88992	0.6592:0.0:0.3408:0.0|0.6592:0.0:0.3408:0.0	.|.	.|.	.|.	.|.	X|M	74|69	.|.	.|.	R|T	-|-	1|2	2|0	SCUBE2|SCUBE2	9003934|9003934	0.193000|0.193000	0.23313|0.23313	0.476000|0.476000	0.27291|0.27291	0.945000|0.945000	0.59286|0.59286	-0.487000|-0.487000	0.06505|0.06505	-1.966000|-1.966000	0.01009|0.01009	-2.136000|-2.136000	0.00340|0.00340	CGA|ACG		0.512	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974	
SCUBE2	57758	broad.mit.edu	37	11	9080916	9080916	+	Missense_Mutation	SNP	C	C	T	rs147079601	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:9080916C>T	ENST00000309263.3	-	9	1096	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M	RP11-467K18.2_ENST00000531592.1_RNA|RP11-467K18.2_ENST00000521394.2_RNA|SCUBE2_ENST00000457346.2_Missense_Mutation_p.V342M|SCUBE2_ENST00000520467.1_Missense_Mutation_p.V342M|SCUBE2_ENST00000450649.2_Missense_Mutation_p.V342M			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	342	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.V342M(2)		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)		AAACTGCCCACGATGTTTTTG	0.443																																					p.V342M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1024A	11						.	C	MET/VAL,MET/VAL	3,4399	6.2+/-15.9	0,3,2198	90.0	79.0	83.0		1024,1024	4.9	1.0	11	dbSNP_134	83	2,8590	2.2+/-6.3	0,2,4294	yes	missense,missense	SCUBE2	NM_001170690.1,NM_020974.2	21,21	0,5,6492	TT,TC,CC		0.0233,0.0682,0.0385	possibly-damaging,possibly-damaging	342/808,342/972	9080916	5,12989	2201	4296	6497	9037492	SO:0001583	missense	57758	exon9			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.1024G>A	11.37:g.9080916C>T	ENSP00000310658:p.Val342Met		9037492	NM_020974	Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37		.	.	.	.	.	.	.	.	.	.	C	17.51	3.407304	0.62399	6.82E-4	2.33E-4	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03	5.85	4.94	0.65067	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);	0.107611	0.64402	D	0.000004	D	0.97148	0.9068	M	0.64567	1.98	0.49299	D	0.999774	D;D;D	0.65815	0.995;0.995;0.991	P;D;P	0.68483	0.9;0.958;0.908	D	0.96914	0.9669	10	0.51188	T	0.08	.	11.841	0.52355	0.0:0.8604:0.0:0.1396	.	342;342;342	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	M	342	ENSP00000390481:V342M;ENSP00000310658:V342M;ENSP00000415187:V342M;ENSP00000429969:V342M	ENSP00000310658:V342M	V	-	1	0	SCUBE2	9037492	0.958000	0.32768	0.993000	0.49108	0.991000	0.79684	2.004000	0.40854	1.488000	0.48433	0.585000	0.79938	GTG		0.443	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974	
WEE1	7465	broad.mit.edu	37	11	9598715	9598715	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:9598715C>T	ENST00000450114.2	+	5	1299	c.1046C>T	c.(1045-1047)gCt>gTt	p.A349V	snoU13_ENST00000458785.1_RNA|WEE1_ENST00000299613.6_Missense_Mutation_p.A135V	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	349	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.A349V(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		GAAGTATATGCTCATGCAGTG	0.343																																					p.A135V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C404T	11						.						131.0	128.0	129.0					11																	9598715		2201	4294	6495	9555291	SO:0001583	missense	7465	exon5			X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"""wee1+ (S. pombe) homolog"", ""WEE1 homolog (S. pombe)"""			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1046C>T	11.37:g.9598715C>T	ENSP00000402084:p.Ala349Val		9555291	NM_001143976	B3KVE1|D3DQV0	Missense_Mutation	SNP	ENST00000450114.2	37	CCDS7800.1	.	.	.	.	.	.	.	.	.	.	C	37	5.989911	0.97179	.	.	ENSG00000166483	ENST00000450114;ENST00000299613	T;T	0.62232	0.04;0.04	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79947	0.4534	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76984	-0.2756	10	0.37606	T	0.19	-13.9652	20.0401	0.97581	0.0:1.0:0.0:0.0	.	157;349	Q6MZL0;P30291	.;WEE1_HUMAN	V	349;135	ENSP00000402084:A349V;ENSP00000299613:A135V	ENSP00000299613:A135V	A	+	2	0	WEE1	9555291	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.453000	0.80700	2.805000	0.96524	0.655000	0.94253	GCT		0.343	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390	
PLEKHA7	144100	broad.mit.edu	37	11	16816462	16816462	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:16816462delT	ENST00000355661.3	-	18	2523	c.2513delA	c.(2512-2514)aatfs	p.N838fs	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Frame_Shift_Del_p.N838fs|PLEKHA7_ENST00000448080.2_Frame_Shift_Del_p.N838fs			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	838					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)	p.N838fs*61(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CTCACCCGGATTTTTTACTGA	0.498																																					p.N838fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2513delA	11						.						154.0	151.0	152.0					11																	16816462		2200	4294	6494	16773038	SO:0001589	frameshift_variant	144100	exon18			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.2513delA	11.37:g.16816462delT	ENSP00000347883:p.Asn838fs		16773038	NM_175058	B4DK33|B4DWC3|Q86VZ7	Frame_Shift_Del	DEL	ENST00000355661.3	37	CCDS31434.1																																																																																				0.498	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058	
NAV2	89797	broad.mit.edu	37	11	20075653	20075653	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:20075653G>A	ENST00000396087.3	+	19	4677	c.4578G>A	c.(4576-4578)acG>acA	p.T1526T	NAV2_ENST00000360655.4_Silent_p.T1439T|NAV2_ENST00000349880.4_Silent_p.T1503T|NAV2_ENST00000396085.1_Silent_p.T1503T|NAV2_ENST00000311043.8_Silent_p.T567T|NAV2_ENST00000540292.1_Silent_p.T1457T|NAV2_ENST00000533917.1_Silent_p.T567T|NAV2_ENST00000527559.2_Silent_p.T1455T	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1526	Ser-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.T1526T(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGCTTCGCACGCAAGAAGATG	0.498																																					p.T1439T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4317A	11						.						81.0	65.0	71.0					11																	20075653		2203	4300	6503	20032229	SO:0001819	synonymous_variant	89797	exon18			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.4578G>A	11.37:g.20075653G>A			20032229	NM_001111018	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																				0.498	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
NAV2	89797	broad.mit.edu	37	11	20124950	20124950	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:20124950C>A	ENST00000396087.3	+	36	6843	c.6744C>A	c.(6742-6744)caC>caA	p.H2248Q	NAV2_ENST00000360655.4_Missense_Mutation_p.H2125Q|NAV2_ENST00000349880.4_Missense_Mutation_p.H2189Q|NAV2_ENST00000396085.1_Missense_Mutation_p.H2192Q|NAV2_ENST00000311043.8_Missense_Mutation_p.H1253Q|NAV2_ENST00000540292.1_Missense_Mutation_p.H2179Q|NAV2_ENST00000533917.1_Missense_Mutation_p.H1253Q|NAV2_ENST00000527559.2_Missense_Mutation_p.H2177Q	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2248					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.H2248Q(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCAAGTACCACAAATGGTAAA	0.582																																					p.H2125Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6375A	11						.						121.0	105.0	111.0					11																	20124950		2203	4300	6503	20081526	SO:0001583	missense	89797	exon33			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.6744C>A	11.37:g.20124950C>A	ENSP00000379396:p.His2248Gln		20081526	NM_001111018	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772305	0.31411	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	D;D;D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	5.6	-9.3	0.00649	.	0.000000	0.64402	D	0.000002	T	0.72020	0.3409	N	0.11064	0.09	0.33357	D	0.57182	B;B;B;B	0.15473	0.002;0.003;0.013;0.003	B;B;B;B	0.17979	0.002;0.002;0.02;0.005	T	0.49263	-0.8958	9	.	.	.	.	16.4802	0.84156	0.0:0.7594:0.0926:0.1481	.	2192;1253;2189;2125	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	Q	2125;2192;2189;2248;2177;2179;1253;1253	ENSP00000353871:H2125Q;ENSP00000379394:H2192Q;ENSP00000309577:H2189Q;ENSP00000379396:H2248Q;ENSP00000435395:H2177Q;ENSP00000443489:H2179Q;ENSP00000437316:H1253Q;ENSP00000312169:H1253Q	.	H	+	3	2	NAV2	20081526	0.005000	0.15991	0.568000	0.28447	0.969000	0.65631	-1.197000	0.03038	-1.989000	0.00979	-0.793000	0.03317	CAC		0.582	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
LUZP2	338645	broad.mit.edu	37	11	24927590	24927590	+	Silent	SNP	C	C	T	rs367630511		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:24927590C>T	ENST00000336930.6	+	6	516	c.450C>T	c.(448-450)caC>caT	p.H150H	LUZP2_ENST00000533227.1_Silent_p.H64H			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	150						extracellular region (GO:0005576)		p.H150H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GTGGCATTCACGCAGAAGAGG	0.328																																					p.H150H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C450T	11						.	C		1,4405	2.1+/-5.4	0,1,2202	71.0	73.0	72.0		450	2.3	1.0	11		72	0,8598		0,0,4299	no	coding-synonymous	LUZP2	NM_001009909.2		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		150/347	24927590	1,13003	2203	4299	6502	24884166	SO:0001819	synonymous_variant	338645	exon6			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.450C>T	11.37:g.24927590C>T			24884166	NM_001009909	A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Silent	SNP	ENST00000336930.6	37	CCDS31446.1																																																																																				0.328	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909	
WT1-AS	51352	broad.mit.edu	37	11	32460465	32460465	+	RNA	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:32460465C>T	ENST00000395900.1	+	0	1343				WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000459866.1_RNA|WT1-AS_ENST00000494911.1_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000478367.1_RNA	NR_023920.1		Q06250	WIT1_HUMAN	WT1 antisense RNA									p.A13V(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						AACCATGTGGCGTTGATACAC	0.532																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	11						.						59.0	60.0	59.0					11																	32460465		2202	4299	6501	32417041			51352	.			BC002734		11p13	2012-10-19	2012-08-15	2012-01-25	ENSG00000183242	ENSG00000183242		"""Long non-coding RNAs"", ""-"""	18135	non-coding RNA	RNA, long non-coding	"""Wilms tumor associated protein"""	607899	"""Wilms tumor upstream neighbor 1"", ""WT1 antisense RNA (non-protein coding)"""	WIT1		2173145, 8406502, 17210670	Standard	NR_120546		Approved	WIT-1, WT1AS, WT1-AS1	uc010red.2	Q06250	OTTHUMG00000039557		11.37:g.32460465C>T			32417041	.	Q4KMY0|Q96A27	Missense_Mutation	SNP	ENST00000395900.1	37																																																																																					0.532	WT1-AS-001	KNOWN	basic	antisense	antisense	OTTHUMT00000095437.1	NR_023920	
CSTF3	1479	broad.mit.edu	37	11	33120281	33120281	+	Silent	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:33120281A>G	ENST00000323959.4	-	13	1222	c.1083T>C	c.(1081-1083)agT>agC	p.S361S	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	361					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S361S(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TGTTATATATACTGTGAACCT	0.358																																					p.S361S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1083C	11						.						182.0	193.0	189.0					11																	33120281		2202	4298	6500	33076857	SO:0001819	synonymous_variant	1479	exon13			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1083T>C	11.37:g.33120281A>G			33076857	NM_001326	A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Silent	SNP	ENST00000323959.4	37	CCDS7883.1																																																																																				0.358	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326	
NAT10	55226	broad.mit.edu	37	11	34153750	34153750	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:34153750C>T	ENST00000257829.3	+	15	1805	c.1599C>T	c.(1597-1599)taC>taT	p.Y533Y	NAT10_ENST00000531159.2_Silent_p.Y461Y|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	533						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)	p.Y533Y(1)		endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TGGCCCTCTACGTGGCTTCTC	0.463																																					p.Y461Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1383T	11						.						189.0	185.0	187.0					11																	34153750		2202	4298	6500	34110326	SO:0001819	synonymous_variant	55226	exon13			AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.1599C>T	11.37:g.34153750C>T			34110326	NM_001144030	B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Silent	SNP	ENST00000257829.3	37	CCDS7889.1																																																																																				0.463	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662	
ELF5	2001	broad.mit.edu	37	11	34515068	34515068	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:34515068C>T	ENST00000312319.2	-	3	572	c.343G>A	c.(343-345)Ggc>Agc	p.G115S	ELF5_ENST00000532417.1_Missense_Mutation_p.G105S|ELF5_ENST00000257832.2_Missense_Mutation_p.G105S|ELF5_ENST00000429939.2_Intron|ELF5_ENST00000528709.1_Intron	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	115	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|ectoderm development (GO:0007398)|mammary gland epithelial cell differentiation (GO:0060644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G115S(1)		large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				AGGTACTCGCCGCAGAGGCCA	0.557											OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G105S	Melanoma(61;202 1660 4348 21594)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G313A	11						.						65.0	50.0	55.0					11																	34515068		2202	4298	6500	34471644	SO:0001583	missense	2001	exon3			AF049703	CCDS7892.1, CCDS7893.1, CCDS58129.1, CCDS73273.1	11p13-p12	2008-05-14			ENSG00000135374	ENSG00000135374			3320	protein-coding gene	gene with protein product		605169				9840936	Standard	NM_001422		Approved		uc001mvp.2	Q9UKW6	OTTHUMG00000166451	ENST00000312319.2:c.343G>A	11.37:g.34515068C>T	ENSP00000311010:p.Gly115Ser	848	34471644	NM_001422	A6XAE6|A8K452|O95175|Q8N2K9|Q96QY3|Q9UKW5	Missense_Mutation	SNP	ENST00000312319.2	37	CCDS7892.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873053	0.91664	.	.	ENSG00000135374	ENST00000257832;ENST00000312319;ENST00000532417	T;T;T	0.53423	0.62;0.62;0.62	4.66	4.66	0.58398	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.000000	0.64402	D	0.000004	T	0.67636	0.2914	M	0.65498	2.005	0.52501	D	0.999951	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70799	-0.4774	10	0.54805	T	0.06	.	17.5733	0.87941	0.0:1.0:0.0:0.0	.	105;115	Q9UKW6-3;Q9UKW6	.;ELF5_HUMAN	S	105;115;105	ENSP00000257832:G105S;ENSP00000311010:G115S;ENSP00000436386:G105S	ENSP00000257832:G105S	G	-	1	0	ELF5	34471644	0.999000	0.42202	0.994000	0.49952	0.886000	0.51366	5.611000	0.67674	2.146000	0.66826	0.561000	0.74099	GGC		0.557	ELF5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389845.1	NM_198381	
NUP160	23279	broad.mit.edu	37	11	47804645	47804645	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:47804645G>A	ENST00000378460.2	-	34	4142	c.4096C>T	c.(4096-4098)Cat>Tat	p.H1366Y	NUP160_ENST00000530326.1_Intron	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1366					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.H1366Y(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AAGTATTGATGTCCTTTTCCC	0.368																																					p.H1366Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4096T	11						.						206.0	196.0	199.0					11																	47804645		2201	4298	6499	47761221	SO:0001583	missense	23279	exon34			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.4096C>T	11.37:g.47804645G>A	ENSP00000367721:p.His1366Tyr		47761221	NM_015231	B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800412	0.90538	.	.	ENSG00000030066	ENST00000378460	T	0.32272	1.46	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.48660	0.1512	L	0.51422	1.61	0.80722	D	1	D	0.69078	0.997	P	0.58970	0.849	T	0.40590	-0.9555	10	0.59425	D	0.04	.	19.8199	0.96589	0.0:0.0:1.0:0.0	.	1366	Q12769	NU160_HUMAN	Y	1366	ENSP00000367721:H1366Y	ENSP00000367721:H1366Y	H	-	1	0	NUP160	47761221	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.225000	0.95219	2.671000	0.90904	0.545000	0.68477	CAT		0.368	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231	
OR4C13	283092	broad.mit.edu	37	11	49974622	49974622	+	Silent	SNP	C	C	T	rs142785731		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:49974622C>T	ENST00000555099.1	+	1	680	c.648C>T	c.(646-648)tgC>tgT	p.C216C		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C216C(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TGGTCTCCTGCGTGGTCATAC	0.483																																					p.C216C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C648T	11						.						188.0	153.0	165.0					11																	49974622		2201	4296	6497	49931198	SO:0001819	synonymous_variant	283092	exon1			AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.648C>T	11.37:g.49974622C>T			49931198	NM_001001955	A6NJJ3|B9EH30|Q6IF48|Q96R68	Silent	SNP	ENST00000555099.1	37	CCDS31495.1																																																																																				0.483	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955	
OR4C15	81309	broad.mit.edu	37	11	55322615	55322615	+	Missense_Mutation	SNP	T	T	C	rs72140406|rs144837445	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:55322615T>C	ENST00000314644.2	+	1	833	c.833T>C	c.(832-834)cTg>cCg	p.L278P		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L278P(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTGCTCTCTCTGAGAACACAC	0.443										HNSCC(20;0.049)																											p.L278P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T833C	11						.	T	PRO/LEU	0,4398		0,0,2199	214.0	186.0	196.0		833	5.0	0.2	11	dbSNP_134	196	3,8589	3.0+/-9.4	0,3,4293	no	missense	OR4C15	NM_001001920.1	98	0,3,6492	CC,CT,TT		0.0349,0.0,0.0231	probably-damaging	278/371	55322615	3,12987	2199	4296	6495	55079191	SO:0001583	missense	81309	exon1			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.833T>C	11.37:g.55322615T>C	ENSP00000324958:p.Leu278Pro		55079191	NM_001001920	Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.986407	0.35036	0.0	3.49E-4	ENSG00000181939	ENST00000314644	T	0.52754	0.65	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.77253	0.4103	H	0.95645	3.7	0.22851	N	0.998656	D	0.89917	1.0	D	0.97110	1.0	T	0.72437	-0.4294	9	0.87932	D	0	.	12.7227	0.57152	0.0:0.0:0.0:1.0	.	224	Q8NGM1	OR4CF_HUMAN	P	278	ENSP00000324958:L278P	ENSP00000324958:L278P	L	+	2	0	OR4C15	55079191	0.001000	0.12720	0.239000	0.24122	0.458000	0.32498	1.093000	0.30939	2.107000	0.64212	0.317000	0.21355	CTG		0.443	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920	
OR8H3	390152	broad.mit.edu	37	11	55889987	55889987	+	Silent	SNP	C	C	T	rs7107077	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:55889987C>T	ENST00000313472.3	+	1	139	c.139C>T	c.(139-141)Cta>Tta	p.L47L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	47			L -> I (in dbSNP:rs7107077).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L47L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGTGGGGATGCTATTGATAAT	0.453																																					p.L47L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C139T	11						.						302.0	304.0	303.0					11																	55889987		2201	4296	6497	55646563	SO:0001819	synonymous_variant	390152	exon1			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.139C>T	11.37:g.55889987C>T			55646563	NM_001005201	Q6IFB7	Silent	SNP	ENST00000313472.3	37	CCDS31519.1																																																																																				0.453	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201	
OR8K1	390157	broad.mit.edu	37	11	56113775	56113775	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:56113775G>A	ENST00000279783.2	+	1	355	c.261G>A	c.(259-261)atG>atA	p.M87I		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M87I(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					CCCCGAAGATGTTAGTAAACT	0.398										HNSCC(65;0.19)																											p.M87I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G261A	11						.						171.0	164.0	167.0					11																	56113775		2201	4296	6497	55870351	SO:0001583	missense	390157	exon1			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.261G>A	11.37:g.56113775G>A	ENSP00000279783:p.Met87Ile		55870351	NM_001002907	B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	G	5.045	0.193988	0.09599	.	.	ENSG00000150261	ENST00000279783	T	0.05513	3.43	5.0	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.093959	0.46758	D	0.000278	T	0.08268	0.0206	M	0.71036	2.16	0.09310	N	1	P	0.45634	0.863	B	0.38500	0.275	T	0.29941	-0.9995	10	0.87932	D	0	-19.0734	6.5564	0.22462	0.074:0.1281:0.6655:0.1323	.	87	Q8NGG5	OR8K1_HUMAN	I	87	ENSP00000279783:M87I	ENSP00000279783:M87I	M	+	3	0	OR8K1	55870351	0.077000	0.21312	0.382000	0.26119	0.048000	0.14542	0.824000	0.27379	1.083000	0.41159	0.549000	0.68633	ATG		0.398	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907	
TNKS1BP1	85456	broad.mit.edu	37	11	57080071	57080071	+	Silent	SNP	G	G	A	rs148587432	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:57080071G>A	ENST00000532437.1	-	4	2402	c.2091C>T	c.(2089-2091)ggC>ggT	p.G697G	TNKS1BP1_ENST00000358252.3_Silent_p.G697G|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	697	Acidic.|Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.G697G(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCCTTGCACCGCCACCACTGG	0.622																																					p.G697G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2091T	11						.	G		3,4397	6.2+/-15.9	0,3,2197	51.0	52.0	52.0		2091	-0.4	0.0	11	dbSNP_134	52	0,8592		0,0,4296	no	coding-synonymous	TNKS1BP1	NM_033396.2		0,3,6493	AA,AG,GG		0.0,0.0682,0.0231		697/1730	57080071	3,12989	2200	4296	6496	56836647	SO:0001819	synonymous_variant	85456	exon5			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2091C>T	11.37:g.57080071G>A			56836647	NM_033396	A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	CCDS7951.1																																																																																				0.622	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396	
TIMM10	26519	broad.mit.edu	37	11	57296238	57296238	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:57296238C>A	ENST00000257245.4	-	3	377	c.225G>T	c.(223-225)caG>caT	p.Q75H	TIMM10_ENST00000525587.1_Missense_Mutation_p.Q75H|TIMM10_ENST00000525158.1_Missense_Mutation_p.Q75H	NM_012456.2	NP_036588.1	P62072	TIM10_HUMAN	translocase of inner mitochondrial membrane 10 homolog (yeast)	75					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719)|mitochondrion (GO:0005739)	chaperone binding (GO:0051087)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.Q75H(1)		cervix(1)|large_intestine(2)	3						GCTCTTCATCCTGCATAGACA	0.542																																					p.Q75H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G225T	11						.						155.0	134.0	141.0					11																	57296238		2201	4296	6497	57052814	SO:0001583	missense	26519	exon3			AF152354	CCDS7959.1	11q12.1-q12.3	2008-07-21	2001-11-28			ENSG00000134809			11814	protein-coding gene	gene with protein product		602251	"""translocase of inner mitochondrial membrane 10 (yeast) homolog"""			10552927	Standard	NM_012456		Approved	TIM10, TIM10A	uc001nkm.1	P62072		ENST00000257245.4:c.225G>T	11.37:g.57296238C>A	ENSP00000257245:p.Gln75His		57052814	NM_012456	A8K136|Q9WV99|Q9WVA0|Q9Y5J8	Missense_Mutation	SNP	ENST00000257245.4	37	CCDS7959.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711706	0.68730	.	.	ENSG00000134809	ENST00000257245;ENST00000525587;ENST00000525158	T;T;T	0.49432	0.78;0.78;0.78	5.78	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.60025	0.2237	.	.	.	0.80722	D	1	D	0.67145	0.996	P	0.58873	0.847	T	0.61579	-0.7034	9	0.66056	D	0.02	-42.5978	9.4165	0.38525	0.0:0.7817:0.0:0.2183	.	75	P62072	TIM10_HUMAN	H	75	ENSP00000257245:Q75H;ENSP00000435678:Q75H;ENSP00000433627:Q75H	ENSP00000257245:Q75H	Q	-	3	2	TIMM10	57052814	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	2.072000	0.41510	0.806000	0.34183	-0.253000	0.11424	CAG		0.542	TIMM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392595.1	NM_012456	
TIMM10	26519	broad.mit.edu	37	11	57296325	57296325	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:57296325G>A	ENST00000257245.4	-	3	290	c.138C>T	c.(136-138)ggC>ggT	p.G46G	TIMM10_ENST00000525587.1_Silent_p.G46G|TIMM10_ENST00000525158.1_Silent_p.G46G	NM_012456.2	NP_036588.1	P62072	TIM10_HUMAN	translocase of inner mitochondrial membrane 10 homolog (yeast)	46					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719)|mitochondrion (GO:0005739)	chaperone binding (GO:0051087)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.G46G(1)		cervix(1)|large_intestine(2)	3						ACACAGACTCGCCCTTGGAGA	0.552																																					p.G46G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C138T	11						.						119.0	101.0	107.0					11																	57296325		2201	4296	6497	57052901	SO:0001819	synonymous_variant	26519	exon3			AF152354	CCDS7959.1	11q12.1-q12.3	2008-07-21	2001-11-28			ENSG00000134809			11814	protein-coding gene	gene with protein product		602251	"""translocase of inner mitochondrial membrane 10 (yeast) homolog"""			10552927	Standard	NM_012456		Approved	TIM10, TIM10A	uc001nkm.1	P62072		ENST00000257245.4:c.138C>T	11.37:g.57296325G>A			57052901	NM_012456	A8K136|Q9WV99|Q9WVA0|Q9Y5J8	Silent	SNP	ENST00000257245.4	37	CCDS7959.1																																																																																				0.552	TIMM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392595.1	NM_012456	
UBE2L6	9246	broad.mit.edu	37	11	57319948	57319948	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:57319948C>T	ENST00000287156.4	-	4	540	c.345G>A	c.(343-345)ccG>ccA	p.P115P	UBE2L6_ENST00000340573.4_Silent_p.P49P	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	115					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)	p.P115P(1)		large_intestine(1)|lung(3)|ovary(1)	5						CCCTGATATTCGGTCTATTCA	0.582																																					p.P49P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G147A	11						.						144.0	138.0	140.0					11																	57319948		2201	4296	6497	57076524	SO:0001819	synonymous_variant	9246	exon4			AF031141, AK093462, BC032491	CCDS7960.1, CCDS7961.1	11q12.1	2008-02-01			ENSG00000156587	ENSG00000156587		"""Ubiquitin-conjugating enzymes E2"""	12490	protein-coding gene	gene with protein product		603890				9153201	Standard	NM_004223		Approved	UBCH8	uc001nkn.2	O14933	OTTHUMG00000167047	ENST00000287156.4:c.345G>A	11.37:g.57319948C>T			57076524	NM_198183	A6NDM6|A8MY53|Q8N5D8|Q9UEZ0	Silent	SNP	ENST00000287156.4	37	CCDS7960.1																																																																																				0.582	UBE2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392657.1	NM_004223	
DAK	26007	broad.mit.edu	37	11	61109940	61109940	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:61109940C>T	ENST00000394900.3	+	8	892	c.663C>T	c.(661-663)caC>caT	p.H221H		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	221	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)	p.H221H(2)		NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CAGGGATCCACGGGGAAGCTG	0.587																																					p.H221H												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C663T	11						.						108.0	115.0	113.0					11																	61109940		2203	4299	6502	60866516	SO:0001819	synonymous_variant	26007	exon8				CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.663C>T	11.37:g.61109940C>T			60866516	NM_015533	Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Silent	SNP	ENST00000394900.3	37	CCDS8003.1																																																																																				0.587	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533	
CPSF7	79869	broad.mit.edu	37	11	61183940	61183940	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:61183940C>T	ENST00000394888.4	-	6	774	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	CPSF7_ENST00000439958.3_Missense_Mutation_p.R192Q|CPSF7_ENST00000340437.4_Missense_Mutation_p.R244Q|CPSF7_ENST00000448745.1_Missense_Mutation_p.R192Q	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	201					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R201Q(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGGTGTGGCCCGTCCATCAGC	0.542																																					p.R201Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G602A	11						.						102.0	98.0	100.0					11																	61183940		2202	4299	6501	60940516	SO:0001583	missense	79869	exon6				CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.602G>A	11.37:g.61183940C>T	ENSP00000378352:p.Arg201Gln		60940516	NM_001136040	B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962871	0.74016	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000477890;ENST00000539952;ENST00000544585;ENST00000413232	.	.	.	5.77	5.77	0.91146	.	0.295474	0.32935	N	0.005476	T	0.36496	0.0969	N	0.22421	0.69	0.80722	D	1	B;P;P;P	0.37997	0.116;0.48;0.614;0.614	B;B;B;B	0.26864	0.01;0.034;0.074;0.045	T	0.18272	-1.0342	9	0.18276	T	0.48	-3.2205	19.6019	0.95566	0.0:1.0:0.0:0.0	.	192;201;244;192	B4DGF8;Q8N684;Q8N684-3;Q8N684-2	.;CPSF7_HUMAN;.;.	Q	244;201;192;192;192;192;192;192	.	ENSP00000345412:R244Q	R	-	2	0	CPSF7	60940516	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.884000	0.48562	2.723000	0.93209	0.655000	0.94253	CGG		0.542	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811	
DAGLA	747	broad.mit.edu	37	11	61493538	61493538	+	Missense_Mutation	SNP	C	C	T	rs536638905		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:61493538C>T	ENST00000257215.5	+	6	736	c.620C>T	c.(619-621)aCg>aTg	p.T207M		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	207					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.T207M(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TGCACGCGGACGAAGGACTCC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		19928	0.0		0.0	False		,,,				2504	0.001				p.T207M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C620T	11						.						76.0	68.0	71.0					11																	61493538		2202	4299	6501	61250114	SO:0001583	missense	747	exon6			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.620C>T	11.37:g.61493538C>T	ENSP00000257215:p.Thr207Met		61250114	NM_006133	A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176518	0.78564	.	.	ENSG00000134780	ENST00000257215	T	0.24350	1.86	4.33	4.33	0.51752	.	0.057603	0.64402	D	0.000001	T	0.28863	0.0716	N	0.19112	0.55	0.54753	D	0.999988	D	0.65815	0.995	P	0.53146	0.719	T	0.12604	-1.0541	10	0.54805	T	0.06	-21.3316	17.2282	0.86977	0.0:1.0:0.0:0.0	.	207	Q9Y4D2	DGLA_HUMAN	M	207	ENSP00000257215:T207M	ENSP00000257215:T207M	T	+	2	0	DAGLA	61250114	1.000000	0.71417	0.869000	0.34112	0.953000	0.61014	7.247000	0.78257	2.151000	0.67156	0.462000	0.41574	ACG		0.597	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133	
FEN1	2237	broad.mit.edu	37	11	61563566	61563566	+	Missense_Mutation	SNP	C	C	G	rs200397900		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:61563566C>G	ENST00000305885.2	+	2	1146	c.733C>G	c.(733-735)Cgg>Ggg	p.R245G	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1			flap structure-specific endonuclease 1									p.R245G(1)		endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TGGGCCCAAGCGGGCTGTGGA	0.557								Editing and processing nucleases																													p.R245G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C733G	11						.						69.0	68.0	68.0					11																	61563566		2202	4299	6501	61320142	SO:0001583	missense	2237	exon2			L37374	CCDS8010.1	11q12	2013-05-08			ENSG00000168496	ENSG00000168496			3650	protein-coding gene	gene with protein product	"""maturation factor-1"", ""DNase IV"""	600393		RAD2		7774922	Standard	NM_004111		Approved	FEN-1, MF1	uc001nsg.3	P39748	OTTHUMG00000168162	ENST00000305885.2:c.733C>G	11.37:g.61563566C>G	ENSP00000305480:p.Arg245Gly		61320142	NM_004111		Missense_Mutation	SNP	ENST00000305885.2	37	CCDS8010.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996204	0.35226	.	.	ENSG00000168496	ENST00000305885	T	0.29917	1.55	4.92	4.01	0.46588	-3&apos (1);Helix-hairpin-helix motif, class 2 (1); exonuclease, C-terminal domain (1);5&apos (1);	0.052577	0.64402	D	0.000001	T	0.28400	0.0702	M	0.76328	2.33	0.80722	D	1	P	0.52170	0.951	B	0.35899	0.213	T	0.24154	-1.0168	10	0.72032	D	0.01	-29.3873	8.7348	0.34521	0.1493:0.7748:0.0:0.0759	.	245	P39748	FEN1_HUMAN	G	245	ENSP00000305480:R245G	ENSP00000305480:R245G	R	+	1	2	FEN1	61320142	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.949000	0.40313	1.446000	0.47643	-0.258000	0.10820	CGG		0.557	FEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398526.1	NM_004111	
FADS2	9415	broad.mit.edu	37	11	61632644	61632644	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:61632644G>A	ENST00000278840.4	+	11	1808	c.1178G>A	c.(1177-1179)cGg>cAg	p.R393Q	FADS2_ENST00000522056.1_Missense_Mutation_p.R362Q|FADS2_ENST00000257261.6_Missense_Mutation_p.R371Q	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	393					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)	p.R393Q(1)		breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	ACCATGCCCCGGCACAACTTA	0.607																																					p.R393Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1178A	11						.						81.0	61.0	68.0					11																	61632644		2202	4299	6501	61389220	SO:0001583	missense	9415	exon11			AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.1178G>A	11.37:g.61632644G>A	ENSP00000278840:p.Arg393Gln		61389220	NM_004265	A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	ENST00000278840.4	37	CCDS8012.1	.	.	.	.	.	.	.	.	.	.	G	32	5.116785	0.94385	.	.	ENSG00000134824	ENST00000257261;ENST00000522056;ENST00000278840	T;T;T	0.16897	2.31;2.31;2.31	4.65	4.65	0.58169	Fatty acid desaturase, type 1 (1);	0.116254	0.35495	N	0.003175	T	0.42200	0.1192	M	0.73319	2.225	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.986	D;D;P	0.75484	0.974;0.986;0.836	T	0.41324	-0.9515	10	0.87932	D	0	-5.6751	16.6557	0.85227	0.0:0.0:1.0:0.0	.	362;393;371	B7Z634;O95864;O95864-2	.;FADS2_HUMAN;.	Q	371;362;393	ENSP00000257261:R371Q;ENSP00000429500:R362Q;ENSP00000278840:R393Q	ENSP00000257261:R371Q	R	+	2	0	FADS2	61389220	0.997000	0.39634	0.960000	0.40013	0.827000	0.46813	8.115000	0.89572	2.289000	0.77006	0.305000	0.20034	CGG		0.607	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265	
AHNAK	79026	broad.mit.edu	37	11	62291058	62291058	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:62291058T>C	ENST00000378024.4	-	5	11105	c.10831A>G	c.(10831-10833)Agc>Ggc	p.S3611G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3611					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.S3611G(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCAGGCATGCTGAACTTGGGC	0.478																																					p.S3611G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A10831G	11						.						215.0	218.0	217.0					11																	62291058		2202	4299	6501	62047634	SO:0001583	missense	79026	exon5			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10831A>G	11.37:g.62291058T>C	ENSP00000367263:p.Ser3611Gly		62047634	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	N	5.951	0.359416	0.11239	.	.	ENSG00000124942	ENST00000378024	T	0.00364	7.81	4.41	3.28	0.37604	.	0.467361	0.23870	N	0.043760	T	0.00552	0.0018	L	0.58428	1.81	0.30914	N	0.728779	D	0.58268	0.982	D	0.68943	0.961	T	0.50474	-0.8824	10	0.12766	T	0.61	-9.5364	7.1036	0.25351	0.0:0.2398:0.0:0.7602	.	3611	Q09666	AHNK_HUMAN	G	3611	ENSP00000367263:S3611G	ENSP00000367263:S3611G	S	-	1	0	AHNAK	62047634	0.246000	0.23909	1.000000	0.80357	0.993000	0.82548	0.828000	0.27435	0.694000	0.31654	0.367000	0.22151	AGC		0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
METTL12	751071	broad.mit.edu	37	11	62434413	62434413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:62434413C>T	ENST00000532971.1	+	3	870	c.613C>T	c.(613-615)Cga>Tga	p.R205*	C11orf48_ENST00000524958.1_5'Flank|SNORA57_ENST00000383870.1_RNA|C11orf48_ENST00000532208.1_Intron|C11orf48_ENST00000525675.1_5'Flank|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000354588.3_Intron|RP11-831H9.11_ENST00000528405.1_5'Flank|C11orf48_ENST00000431002.2_Intron	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12	205						mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)	p.R205*(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						CCCTGATGTGCGACTGCCCTG	0.547																																					p.R205X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C613T	11						.						63.0	64.0	64.0					11																	62434413		1935	4141	6076	62190989	SO:0001587	stop_gained	751071	exon3			BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.613C>T	11.37:g.62434413C>T	ENSP00000431287:p.Arg205*		62190989	NM_001043229	B7Z4C1	Nonsense_Mutation	SNP	ENST00000532971.1	37	CCDS41657.1	.	.	.	.	.	.	.	.	.	.	C	36	5.598117	0.96614	.	.	ENSG00000214756	ENST00000532971	.	.	.	4.65	3.71	0.42584	.	0.000000	0.52532	U	0.000078	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.6271	9.9634	0.41710	0.369:0.631:0.0:0.0	.	.	.	.	X	205	.	ENSP00000431287:R205X	R	+	1	2	METTL12	62190989	1.000000	0.71417	0.553000	0.28255	0.982000	0.71751	1.705000	0.37867	1.275000	0.44379	0.561000	0.74099	CGA		0.547	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394990.1	NM_001043229	
NXF1	10482	broad.mit.edu	37	11	62563395	62563396	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	AG	AG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:62563395_62563396delAG	ENST00000532297.1	-	18	2110_2111	c.1481_1482delCT	c.(1480-1482)tctfs	p.S494fs	NXF1_ENST00000533048.1_5'UTR|NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Frame_Shift_Del_p.S494fs			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	494	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S494fs*29(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCCATTGACAGAAAAACACAG	0.495																																					p.494_494del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1481_1482del	11						.																																			62319972	SO:0001589	frameshift_variant	10482	exon17			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1481_1482delCT	11.37:g.62563395_62563396delAG	ENSP00000436679:p.Ser494fs		62319971	NM_006362	B4E269|Q99799|Q9UQL2	Frame_Shift_Del	DEL	ENST00000532297.1	37	CCDS8037.1																																																																																				0.495	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362	
SLC22A6	9356	broad.mit.edu	37	11	62751092	62751092	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:62751092G>A	ENST00000377871.3	-	3	811	c.545C>T	c.(544-546)gCa>gTa	p.A182V	SLC22A6_ENST00000458333.2_Missense_Mutation_p.A182V|SLC22A6_ENST00000421062.2_Missense_Mutation_p.A182V|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000360421.4_Missense_Mutation_p.A182V	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	182					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.A182V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GAAGTTGGGTGCGAAGGCTGC	0.592																																					p.A182V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C545T	11						.						68.0	58.0	62.0					11																	62751092		2201	4298	6499	62507668	SO:0001583	missense	9356	exon3			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.545C>T	11.37:g.62751092G>A	ENSP00000367102:p.Ala182Val		62507668	NM_004790	A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	G	7.466	0.645687	0.14451	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.53	4.59	0.56863	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.121364	0.56097	D	0.000026	T	0.68815	0.3042	L	0.46614	1.455	0.34301	D	0.684352	B;B;B;B	0.19331	0.028;0.011;0.035;0.005	B;B;B;B	0.22152	0.023;0.023;0.038;0.023	T	0.69771	-0.5055	10	0.33940	T	0.23	.	7.9443	0.29976	0.1922:0.0:0.8078:0.0	.	182;182;182;182	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	V	182;161;182;182;182	ENSP00000353597:A182V;ENSP00000367102:A182V;ENSP00000396401:A182V;ENSP00000404441:A182V	ENSP00000353597:A182V	A	-	2	0	SLC22A6	62507668	1.000000	0.71417	0.180000	0.23079	0.986000	0.74619	6.242000	0.72376	1.253000	0.44018	0.650000	0.86243	GCA		0.592	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790	
SLC22A8	9376	broad.mit.edu	37	11	62761028	62761028	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:62761028G>A	ENST00000336232.2	-	10	1532	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M	SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000311438.8_Missense_Mutation_p.T466M|SLC22A8_ENST00000545207.1_Missense_Mutation_p.T375M|SLC22A8_ENST00000535878.1_Missense_Mutation_p.T343M|SLC22A8_ENST00000430500.2_Missense_Mutation_p.T466M	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	466					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)	p.T466K(1)|p.T466M(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TACCTCACCCGTGATTTTCAC	0.592																																					p.T466M												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1397T	11						.						91.0	89.0	90.0					11																	62761028		2201	4298	6499	62517604	SO:0001583	missense	9376	exon10			AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1397C>T	11.37:g.62761028G>A	ENSP00000337335:p.Thr466Met		62517604	NM_001184732	B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638737	0.47153	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32	5.9	3.97	0.46021	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.404643	0.26535	N	0.023840	T	0.47764	0.1463	L	0.32530	0.975	0.25757	N	0.984996	P;P	0.46656	0.723;0.882	B;P	0.46659	0.203;0.523	T	0.41161	-0.9524	10	0.51188	T	0.08	.	6.1089	0.20090	0.3074:0.0:0.6926:0.0	.	466;466	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	M	466;452;375;343;466;466	ENSP00000337335:T466M;ENSP00000441658:T375M;ENSP00000443368:T343M;ENSP00000311463:T466M;ENSP00000398548:T466M	ENSP00000311463:T466M	T	-	2	0	SLC22A8	62517604	0.937000	0.31787	0.861000	0.33841	0.866000	0.49608	2.109000	0.41863	1.411000	0.46957	0.591000	0.81541	ACG		0.592	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254	
TRMT112	51504	broad.mit.edu	37	11	64084572	64084574	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	CTC	CTC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:64084572_64084574delCTC	ENST00000544844.1	-	3	783_785	c.226_228delGAG	c.(226-228)gagdel	p.E76del	TRMT112_ENST00000535126.1_3'UTR|TRMT112_ENST00000539854.1_In_Frame_Del_p.E76del|TRMT112_ENST00000308774.2_In_Frame_Del_p.E71del|PRDX5_ENST00000352435.4_5'Flank|TRMT112_ENST00000535750.1_In_Frame_Del_p.E32del|PRDX5_ENST00000265462.4_5'Flank|PRDX5_ENST00000347941.4_5'Flank			Q9UI30	TR112_HUMAN	tRNA methyltransferase 11-2 homolog (S. cerevisiae)	76	TRM112.				peptidyl-glutamine methylation (GO:0018364)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protein methyltransferase activity (GO:0008276)	p.E76delE(1)		large_intestine(1)|upper_aerodigestive_tract(1)	2						ACTCCTCATTCTCCTCATATCCC	0.616																																					p.76_76del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.226_228del	11						.																																			63841150	SO:0001651	inframe_deletion	51504	exon3			AF110774	CCDS8068.1, CCDS66113.1, CCDS73312.1	11q13.1	2013-07-23			ENSG00000173113	ENSG00000173113			26940	protein-coding gene	gene with protein product						11042152	Standard	NM_001286082		Approved	HSPC152, HSPC170, TRM112, TRMT11-2	uc001nzt.3	Q9UI30	OTTHUMG00000167848	ENST00000544844.1:c.226_228delGAG	11.37:g.64084575_64084577delCTC	ENSP00000438349:p.Glu76del		63841148	NM_016404	B2R539|J3KNG5|Q3MHC7|Q8N2Z4	In_Frame_Del	DEL	ENST00000544844.1	37	CCDS8068.1																																																																																				0.616	TRMT112-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396598.2	NM_016404	
SLC22A11	55867	broad.mit.edu	37	11	64329603	64329603	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:64329603G>A	ENST00000301891.4	+	3	999	c.625G>A	c.(625-627)Ggc>Agc	p.G209S	SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Missense_Mutation_p.G209S|SLC22A11_ENST00000377585.3_Missense_Mutation_p.G209S	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	209					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.G209S(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	TGGGATGGCCGGCATCTTTCT	0.662											OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.G209S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G625A	11						.						55.0	53.0	54.0					11																	64329603		2201	4297	6498	64086179	SO:0001583	missense	55867	exon3			AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.625G>A	11.37:g.64329603G>A	ENSP00000301891:p.Gly209Ser	1075	64086179	NM_018484	A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	.	12.26	1.883452	0.33255	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.75477	-0.94;-0.94;-0.94	3.38	1.43	0.22495	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.121033	0.56097	N	0.000037	T	0.70876	0.3274	L	0.39147	1.195	0.27684	N	0.946341	D;D;D;D	0.71674	0.997;0.998;0.979;0.996	P;P;P;P	0.57244	0.636;0.816;0.632;0.723	T	0.61671	-0.7015	10	0.25106	T	0.35	.	6.7473	0.23468	0.2515:0.0:0.7485:0.0	.	209;3;209;209	Q9NSA0-2;Q8NBZ3;A6NCG2;Q9NSA0	.;.;.;S22AB_HUMAN	S	209	ENSP00000301891:G209S;ENSP00000366809:G209S;ENSP00000366804:G209S	ENSP00000301891:G209S	G	+	1	0	SLC22A11	64086179	0.978000	0.34361	0.009000	0.14445	0.019000	0.09904	2.352000	0.44080	0.249000	0.21456	0.555000	0.69702	GGC		0.662	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484	
SF1	7536	broad.mit.edu	37	11	64536710	64536710	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:64536710C>T	ENST00000377390.3	-	7	1101	c.764G>A	c.(763-765)cGg>cAg	p.R255Q	SF1_ENST00000227503.9_Missense_Mutation_p.R255Q|SF1_ENST00000377387.1_Missense_Mutation_p.R380Q|SF1_ENST00000433274.2_Missense_Mutation_p.R229Q|SF1_ENST00000334944.5_Missense_Mutation_p.R255Q|SF1_ENST00000422298.2_Missense_Mutation_p.R140Q|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000377394.3_Missense_Mutation_p.R255Q	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	255					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R255Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						ATCGTCTTCCCGAAGGGTCCC	0.463																																					p.R255Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G764A	11						.						92.0	90.0	91.0					11																	64536710		2201	4297	6498	64293286	SO:0001583	missense	7536	exon7			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.764G>A	11.37:g.64536710C>T	ENSP00000366607:p.Arg255Gln		64293286	NM_201998	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	C	36	5.601966	0.96614	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	T;T;T;T;T;T;T	0.60424	0.19;0.23;0.26;0.39;0.23;0.27;0.25	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.72317	0.3445	M	0.86740	2.835	0.80722	D	1	D;D;D;D;D;D	0.62365	0.958;0.975;0.975;0.984;0.991;0.991	B;B;B;B;P;P	0.50136	0.238;0.317;0.297;0.356;0.559;0.632	T	0.77264	-0.2652	10	0.59425	D	0.04	.	17.8105	0.88614	0.0:1.0:0.0:0.0	.	140;255;255;255;255;380	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	Q	380;255;255;255;255;140;229	ENSP00000366604:R380Q;ENSP00000366607:R255Q;ENSP00000227503:R255Q;ENSP00000366611:R255Q;ENSP00000334414:R255Q;ENSP00000413084:R140Q;ENSP00000396793:R229Q	ENSP00000227503:R255Q	R	-	2	0	SF1	64293286	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.544000	0.82117	2.809000	0.96659	0.557000	0.71058	CGG		0.463	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630	
CDC42BPG	55561	broad.mit.edu	37	11	64599911	64599911	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:64599911G>A	ENST00000342711.5	-	27	3075	c.3076C>T	c.(3076-3078)Cgc>Tgc	p.R1026C	CDC42BPG_ENST00000491280.1_5'UTR	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)									p.R1026C(1)		central_nervous_system(1)|lung(3)	4						CTAAAGATGCGTGGCAGGTCC	0.597																																					p.R1026C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3076T	11						.						62.0	64.0	63.0					11																	64599911		2201	4297	6498	64356487	SO:0001583	missense	55561	exon27			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3076C>T	11.37:g.64599911G>A	ENSP00000345133:p.Arg1026Cys		64356487	NM_017525		Missense_Mutation	SNP	ENST00000342711.5	37	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	0.665	-0.804056	0.02819	.	.	ENSG00000171219	ENST00000342711	T	0.75477	-0.94	3.93	3.93	0.45458	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.42548	D	0.000700	T	0.64538	0.2607	N	0.05351	-0.065	0.48341	D	0.99963	D	0.89917	1.0	D	0.87578	0.998	T	0.64529	-0.6386	10	0.02654	T	1	.	7.6259	0.28212	0.1149:0.0:0.8851:0.0	.	1026	Q6DT37	MRCKG_HUMAN	C	1026	ENSP00000345133:R1026C	ENSP00000345133:R1026C	R	-	1	0	CDC42BPG	64356487	1.000000	0.71417	0.993000	0.49108	0.428000	0.31595	3.579000	0.53900	2.206000	0.71126	0.561000	0.74099	CGC		0.597	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516	
PCNXL3	399909	broad.mit.edu	37	11	65394884	65394884	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:65394884C>T	ENST00000355703.3	+	22	4072	c.3533C>T	c.(3532-3534)gCg>gTg	p.A1178V		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1178						integral component of membrane (GO:0016021)		p.A1178V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AGCTGCCGGGCGCTGCTGATG	0.662																																					p.A1178V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3533T	11						.						48.0	52.0	50.0					11																	65394884		2092	4211	6303	65151460	SO:0001583	missense	399909	exon22			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3533C>T	11.37:g.65394884C>T	ENSP00000347931:p.Ala1178Val		65151460	NM_032223	Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610421	0.87258	.	.	ENSG00000197136	ENST00000355703	T	0.07800	3.16	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.19604	0.0471	L	0.48642	1.525	0.51767	D	0.999937	D;D	0.61080	0.989;0.989	P;P	0.61800	0.894;0.622	T	0.01162	-1.1432	10	0.22109	T	0.4	.	17.2201	0.86955	0.0:1.0:0.0:0.0	.	65;1178	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	V	1178	ENSP00000347931:A1178V	ENSP00000347931:A1178V	A	+	2	0	PCNXL3	65151460	1.000000	0.71417	0.997000	0.53966	0.910000	0.53928	7.787000	0.85759	2.735000	0.93741	0.655000	0.94253	GCG		0.662	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223	
C11orf68	83638	broad.mit.edu	37	11	65685557	65685557	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:65685557G>A	ENST00000530188.1	-	1	274	c.129C>T	c.(127-129)cgC>cgT	p.R43R	DRAP1_ENST00000312515.2_5'Flank|C11orf68_ENST00000438576.2_Silent_p.R85R|DRAP1_ENST00000376991.2_5'Flank|DRAP1_ENST00000527119.1_5'Flank|DRAP1_ENST00000532933.1_5'Flank|C11orf68_ENST00000449692.3_Silent_p.R84R			Q9H3H3	CK068_HUMAN	chromosome 11 open reading frame 68	43							poly(A) RNA binding (GO:0044822)	p.R43R(1)|p.R85R(1)		large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		CAGGCGTTGTGCGGGCATCAA	0.637																																					p.R84R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C252T	11						.						53.0	47.0	49.0					11																	65685557		2201	4296	6497	65442133	SO:0001819	synonymous_variant	83638	exon2			AF073483	CCDS8122.2, CCDS44652.1	11q13.1	2012-08-09			ENSG00000175573	ENSG00000175573			28801	protein-coding gene	gene with protein product	"""basophilic leukemia-expressed protein"""					16511166	Standard	NM_031450		Approved	P5326, BLES03	uc001ogi.3	Q9H3H3	OTTHUMG00000157153	ENST00000530188.1:c.129C>T	11.37:g.65685557G>A			65442133	NM_031450	J3KQG9|Q9BT13	Silent	SNP	ENST00000530188.1	37																																																																																					0.637	C11orf68-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000391173.1	NM_031450	
NPAS4	266743	broad.mit.edu	37	11	66190313	66190313	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:66190313G>A	ENST00000311034.2	+	4	775	c.599G>A	c.(598-600)cGc>cAc	p.R200H		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	200					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.R200H(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCGAGACCCCGCCCAGGTCCT	0.627																																					p.R200H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G599A	11						.						60.0	63.0	62.0					11																	66190313		2200	4295	6495	65946889	SO:0001583	missense	266743	exon4			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.599G>A	11.37:g.66190313G>A	ENSP00000311196:p.Arg200His		65946889	NM_178864	B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424407	0.83667	.	.	ENSG00000174576	ENST00000311034	T	0.44482	0.92	5.58	5.58	0.84498	.	0.000000	0.56097	D	0.000026	T	0.38026	0.1025	N	0.22421	0.69	0.80722	D	1	D	0.71674	0.998	P	0.53102	0.718	T	0.09773	-1.0659	10	0.02654	T	1	-12.5616	17.0748	0.86583	0.0:0.0:1.0:0.0	.	200	Q8IUM7	NPAS4_HUMAN	H	200	ENSP00000311196:R200H	ENSP00000311196:R200H	R	+	2	0	NPAS4	65946889	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	5.445000	0.66594	2.626000	0.88956	0.655000	0.94253	CGC		0.627	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864	
KDM2A	22992	broad.mit.edu	37	11	67021752	67021752	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:67021752G>A	ENST00000529006.2	+	20	3616	c.3170G>A	c.(3169-3171)cGc>cAc	p.R1057H	KDM2A_ENST00000530342.1_Missense_Mutation_p.R618H|KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.R515H	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1057					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.R1057H(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GCCACGCTTCGCCTCATAATT	0.567																																					p.R1057H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3170A	11						.						119.0	117.0	118.0					11																	67021752		2188	4277	6465	66778328	SO:0001583	missense	22992	exon20			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.3170G>A	11.37:g.67021752G>A	ENSP00000432786:p.Arg1057His		66778328	NM_012308	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	G	35	5.439983	0.96168	.	.	ENSG00000173120	ENST00000529006;ENST00000530342;ENST00000308783	T;T;T	0.59224	0.28;0.28;0.28	5.28	5.28	0.74379	.	0.059782	0.64402	D	0.000006	T	0.79269	0.4417	M	0.85710	2.77	0.80722	D	1	D;D;D	0.89917	1.0;0.959;0.999	D;B;D	0.74023	0.962;0.276;0.982	T	0.80979	-0.1140	10	0.54805	T	0.06	-16.1281	19.0976	0.93258	0.0:0.0:1.0:0.0	.	618;515;1057	E9PIL6;D4QA03;Q9Y2K7	.;.;KDM2A_HUMAN	H	1057;618;515	ENSP00000432786:R1057H;ENSP00000435776:R618H;ENSP00000309302:R515H	ENSP00000309302:R515H	R	+	2	0	KDM2A	66778328	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.719000	0.84751	2.745000	0.94114	0.655000	0.94253	CGC		0.567	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308	
CABP2	51475	broad.mit.edu	37	11	67290769	67290769	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:67290769C>T	ENST00000294288.4	-	1	98	c.29G>A	c.(28-30)cGc>cAc	p.R10H	CABP2_ENST00000353903.5_Missense_Mutation_p.R10H	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	10					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R10H(1)		endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						AGGGCCCCGGCGCCAGGGCCG	0.706																																					p.R10H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G29A	11						.						19.0	18.0	18.0					11																	67290769		2149	4195	6344	67047345	SO:0001583	missense	51475	exon1			AF169154	CCDS8170.1	11q13.1	2013-01-10			ENSG00000167791	ENSG00000167791		"""EF-hand domain containing"""	1385	protein-coding gene	gene with protein product		607314				10625670	Standard	NM_016366		Approved		uc001omc.1	Q9NPB3	OTTHUMG00000168014	ENST00000294288.4:c.29G>A	11.37:g.67290769C>T	ENSP00000294288:p.Arg10His		67047345	NM_031204		Missense_Mutation	SNP	ENST00000294288.4	37	CCDS8170.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.815587	0.00600	.	.	ENSG00000167791	ENST00000353903;ENST00000294288	T;T	0.72394	-0.48;-0.65	4.52	-2.33	0.06724	.	5.961090	0.00166	N	0.000001	T	0.48926	0.1527	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39187	-0.9626	10	0.33940	T	0.23	-11.9877	8.9565	0.35820	0.0:0.4326:0.0:0.5674	.	10;10	Q9NPB3-2;Q9NPB3	.;CABP2_HUMAN	H	10	ENSP00000312037:R10H;ENSP00000294288:R10H	ENSP00000294288:R10H	R	-	2	0	CABP2	67047345	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-2.071000	0.01378	-0.610000	0.05716	-0.140000	0.14226	CGC		0.706	CABP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397516.1		
C11orf24	53838	broad.mit.edu	37	11	68031177	68031177	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:68031177G>A	ENST00000304271.6	-	3	461	c.59C>T	c.(58-60)gCg>gTg	p.A20V	C11orf24_ENST00000533310.1_Missense_Mutation_p.A20V|C11orf24_ENST00000530166.1_5'UTR	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	20						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A20V(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						GTTGGATGCCGCATGGCTTTC	0.552																																					p.A20V	NSCLC(21;855 905 4198 36694)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C59T	11						.						69.0	61.0	63.0					11																	68031177		2200	4291	6491	67787753	SO:0001583	missense	53838	exon3			AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.59C>T	11.37:g.68031177G>A	ENSP00000307264:p.Ala20Val		67787753	NM_022338	Q9H2K4	Missense_Mutation	SNP	ENST00000304271.6	37	CCDS8180.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.445263	0.25987	.	.	ENSG00000171067	ENST00000304271;ENST00000533310;ENST00000527280	T	0.29917	1.55	4.68	-8.22	0.01037	.	2.703480	0.01823	N	0.034179	T	0.12646	0.0307	N	0.19112	0.55	0.09310	N	1	B;B	0.21381	0.055;0.02	B;B	0.06405	0.002;0.002	T	0.21143	-1.0254	10	0.07813	T	0.8	1.9475	2.4725	0.04567	0.2177:0.1241:0.4147:0.2435	.	20;20	E9PRU5;Q96F05	.;CK024_HUMAN	V	20	ENSP00000307264:A20V	ENSP00000307264:A20V	A	-	2	0	C11orf24	67787753	0.000000	0.05858	0.000000	0.03702	0.551000	0.35334	-2.762000	0.00785	-1.450000	0.01936	0.281000	0.19383	GCG		0.552	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394750.1	NM_022338	
CPT1A	1374	broad.mit.edu	37	11	68562372	68562372	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:68562372A>C	ENST00000265641.5	-	8	933	c.779T>G	c.(778-780)cTg>cGg	p.L260R	CPT1A_ENST00000376618.2_Missense_Mutation_p.L260R|CPT1A_ENST00000538994.1_Missense_Mutation_p.L12R|CPT1A_ENST00000540367.1_Missense_Mutation_p.L260R|CPT1A_ENST00000539743.1_Missense_Mutation_p.L260R	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	260					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.L260R(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	AAGGATATACAGCAGATCCTG	0.458																																					p.L260R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T779G	11						.						106.0	100.0	102.0					11																	68562372		2200	4294	6494	68318948	SO:0001583	missense	1374	exon8			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.779T>G	11.37:g.68562372A>C	ENSP00000265641:p.Leu260Arg		68318948	NM_001031847	Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	A	19.66	3.869052	0.72065	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46	4.83	3.66	0.41972	.	0.000000	0.64402	D	0.000003	D	0.94964	0.8371	H	0.94385	3.53	0.58432	D	0.999999	B;D;D	0.69078	0.326;0.989;0.997	B;D;D	0.73708	0.378;0.981;0.979	D	0.93567	0.6900	10	0.22109	T	0.4	.	11.4432	0.50109	0.8487:0.1513:0.0:0.0	.	260;260;260	B2RAQ8;P50416;P50416-2	.;CPT1A_HUMAN;.	R	260	ENSP00000439084:L260R;ENSP00000365803:L260R;ENSP00000265641:L260R;ENSP00000446108:L260R	ENSP00000265641:L260R	L	-	2	0	CPT1A	68318948	1.000000	0.71417	0.228000	0.23943	0.292000	0.27327	8.829000	0.92055	0.656000	0.30886	0.533000	0.62120	CTG		0.458	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876	
MRGPRD	116512	broad.mit.edu	37	11	68748325	68748325	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:68748325C>T	ENST00000309106.3	-	1	130	c.131G>A	c.(130-132)gGc>gAc	p.G44D		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	44						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G44D(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CATGCTGTTGCCTGCCATCCC	0.587																																					p.G44D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G131A	11						.						65.0	63.0	63.0					11																	68748325		2200	4294	6494	68504901	SO:0001583	missense	116512	exon1			AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.131G>A	11.37:g.68748325C>T	ENSP00000310631:p.Gly44Asp		68504901	NM_198923	Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319020	0.81469	.	.	ENSG00000172938	ENST00000309106	T	0.17854	2.25	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	U	0.000327	T	0.53367	0.1792	M	0.94021	3.485	0.48571	D	0.99967	D	0.89917	1.0	D	0.91635	0.999	T	0.66681	-0.5862	10	0.87932	D	0	-34.9968	16.1605	0.81700	0.0:1.0:0.0:0.0	.	44	Q8TDS7	MRGRD_HUMAN	D	44	ENSP00000310631:G44D	ENSP00000310631:G44D	G	-	2	0	MRGPRD	68504901	1.000000	0.71417	0.524000	0.27887	0.141000	0.21300	2.697000	0.47060	2.417000	0.82017	0.467000	0.42956	GGC		0.587	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923	
CTTN	2017	broad.mit.edu	37	11	70281196	70281196	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:70281196C>T	ENST00000301843.8	+	18	1787	c.1581C>T	c.(1579-1581)gaC>gaT	p.D527D	CTTN_ENST00000538675.1_Silent_p.D211D|CTTN_ENST00000346329.3_Silent_p.D490D|CTTN_ENST00000376561.3_Silent_p.D490D	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	527	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)		p.D527D(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGATTGACGACGGCTGGTGGC	0.612																																					p.D527D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1581T	11						.						83.0	75.0	78.0					11																	70281196		2200	4294	6494	69958844	SO:0001819	synonymous_variant	2017	exon18			AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1581C>T	11.37:g.70281196C>T			69958844	NM_005231	Q8N707|Q96H99	Silent	SNP	ENST00000301843.8	37	CCDS41680.1																																																																																				0.612	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565	
SHANK2	22941	broad.mit.edu	37	11	70331580	70331580	+	Silent	SNP	G	G	A	rs145248675		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:70331580G>A	ENST00000423696.2	-	15	3717	c.3681C>T	c.(3679-3681)ggC>ggT	p.G1227G	SHANK2_ENST00000338508.4_Silent_p.G1607G|SHANK2_ENST00000449833.2_Silent_p.G1011G|SHANK2_ENST00000409161.1_Silent_p.G1010G			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1227					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.G1011G(1)|p.G1607G(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTGTGACGTCGCCCCACAACT	0.562																																					p.R1543X												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4627T	11						.	G	,	1,4399	2.1+/-5.4	0,1,2199	77.0	82.0	80.0		4672,3054	-10.8	0.2	11	dbSNP_134	80	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous	SHANK2	NM_012309.3,NM_133266.3	,	0,1,6493	AA,AG,GG		0.0,0.0227,0.0077	,	1606/1850,1018/1262	70331580	1,12987	2200	4294	6494	70009228	SO:0001819	synonymous_variant	22941	exon22			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3681C>T	11.37:g.70331580G>A			70009228	NM_012309	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37																																																																																					0.562	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309	
SHANK2	22941	broad.mit.edu	37	11	70348374	70348374	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:70348374G>A	ENST00000423696.2	-	9	1114	c.1078C>T	c.(1078-1080)Cgg>Tgg	p.R360W	SHANK2_ENST00000338508.4_Missense_Mutation_p.R740W|SHANK2_ENST00000409530.1_Missense_Mutation_p.R150W|SHANK2_ENST00000449833.2_Missense_Mutation_p.R151W|SHANK2_ENST00000409161.1_Missense_Mutation_p.R150W|SHANK2_ENST00000357171.3_Missense_Mutation_p.R151W|SHANK2_ENST00000449116.2_Missense_Mutation_p.R151W			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	360					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.R151W(1)|p.R740W(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTCGGTGCCCGCTTTGGAGGC	0.637																																					p.R151W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C451T	11						.						31.0	28.0	29.0					11																	70348374		2146	4199	6345	70026022	SO:0001583	missense	22941	exon4			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1078C>T	11.37:g.70348374G>A	ENSP00000394536:p.Arg360Trp		70026022	NM_133266	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.64|16.64	3.178822|3.178822	0.57692|0.57692	.|.	.|.	ENSG00000162105|ENSG00000162105	ENST00000412252|ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018;ENST00000409530;ENST00000449116;ENST00000357171	.|T;T;T;T;T;T;T;T;T	.|0.56941	.|1.61;1.6;0.51;0.43;1.79;1.7;0.62;0.62;0.62	4.46|4.46	4.46|4.46	0.54185|0.54185	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75087|0.75087	0.3802|0.3802	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;0.999;1.0	T|T	0.80197|0.80197	-0.1482|-0.1482	5|10	.|0.66056	.|D	.|0.02	.|.	17.5028|17.5028	0.87736|0.87736	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|151;360;739;151	.|B7ZKU9;Q9UPX8;Q9UPX8-3;Q9UPX8-4	.|.;SHAN2_HUMAN;.;.	V|W	149|151;150;28;740;360;374;370;150;151;151	.|ENSP00000399423:R151W;ENSP00000386491:R150W;ENSP00000402944:R28W;ENSP00000345193:R740W;ENSP00000394536:R360W;ENSP00000294018:R370W;ENSP00000387324:R150W;ENSP00000394939:R151W;ENSP00000349694:R151W	.|ENSP00000294018:R370W	A|R	-|-	2|1	0|2	SHANK2|SHANK2	70026022|70026022	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.488000|0.488000	0.33401|0.33401	3.069000|3.069000	0.50026|0.50026	2.203000|2.203000	0.70933|0.70933	0.462000|0.462000	0.41574|0.41574	GCG|CGG		0.637	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309	
C2CD3	26005	broad.mit.edu	37	11	73785377	73785377	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:73785377C>T	ENST00000334126.7	-	24	5098	c.4872G>A	c.(4870-4872)acG>acA	p.T1624T	C2CD3_ENST00000313663.7_Silent_p.T1624T			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1624	C2 2.				brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.T1624T(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGCCCTCCTGCGTCAGGCGGA	0.567																																					p.T1624T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4872A	11						.						103.0	91.0	95.0					11																	73785377		2200	4293	6493	73463025	SO:0001819	synonymous_variant	26005	exon24			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4872G>A	11.37:g.73785377C>T			73463025	NM_015531	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	ENST00000334126.7	37																																																																																					0.567	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	
C2CD3	26005	broad.mit.edu	37	11	73789296	73789296	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:73789296C>T	ENST00000334126.7	-	23	4693	c.4467G>A	c.(4465-4467)agG>agA	p.R1489R	C2CD3_ENST00000313663.7_Silent_p.R1489R			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1489					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.R1489R(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGATCTCTAGCCTCTCCTCCC	0.507																																					p.R1489R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4467A	11						.						134.0	119.0	124.0					11																	73789296		2200	4293	6493	73466944	SO:0001819	synonymous_variant	26005	exon23			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4467G>A	11.37:g.73789296C>T			73466944	NM_015531	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	ENST00000334126.7	37																																																																																					0.507	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	
CHRDL2	25884	broad.mit.edu	37	11	74413952	74413952	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:74413952C>A	ENST00000376332.3	-	9	1503	c.1007G>T	c.(1006-1008)gGc>gTc	p.G336V	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.G336V	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	336					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.G336V(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GAGGACCCGGCCCGGTGCCTT	0.567											OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G336V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1007T	11						.						115.0	112.0	113.0					11																	74413952		2200	4293	6493	74091600	SO:0001583	missense	25884	exon9			AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.1007G>T	11.37:g.74413952C>A	ENSP00000365510:p.Gly336Val	1152	74091600	NM_015424	A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP	ENST00000376332.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.282|6.282	0.420101|0.420101	0.11928|0.11928	.|.	.|.	ENSG00000054938|ENSG00000054938	ENST00000525413|ENST00000263671;ENST00000376332;ENST00000376323;ENST00000393519;ENST00000528789	.|T;T;T	.|0.63913	.|-0.07;-0.07;-0.07	5.09|5.09	4.17|4.17	0.49024|0.49024	.|.	.|0.625262	.|0.16941	.|N	.|0.193278	T|T	0.66519|0.66519	0.2797|0.2797	L|L	0.43152|0.43152	1.355|1.355	0.18873|0.18873	N|N	0.999987|0.999987	.|D;B;P	.|0.65815	.|0.995;0.148;0.554	.|P;B;B	.|0.59115	.|0.852;0.101;0.28	T|T	0.56685|0.56685	-0.7938|-0.7938	5|10	.|0.52906	.|T	.|0.07	-8.5462|-8.5462	9.685|9.685	0.40094|0.40094	0.0:0.9031:0.0:0.0969|0.0:0.9031:0.0:0.0969	.|.	.|271;336;336	.|E9PCG7;Q6WN34;Q6WN34-2	.|.;CRDL2_HUMAN;.	S|V	136|336;336;222;220;271	.|ENSP00000263671:G336V;ENSP00000365510:G336V;ENSP00000431380:G271V	.|ENSP00000263671:G336V	A|G	-|-	1|2	0|0	CHRDL2|CHRDL2	74091600|74091600	0.922000|0.922000	0.31269|0.31269	0.005000|0.005000	0.12908|0.12908	0.249000|0.249000	0.25844|0.25844	1.507000|1.507000	0.35758|0.35758	1.266000|1.266000	0.44231|0.44231	0.561000|0.561000	0.74099|0.74099	GCC|GGC		0.567	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1		
MYO7A	4647	broad.mit.edu	37	11	76868045	76868045	+	Missense_Mutation	SNP	C	C	T	rs373942326		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:76868045C>T	ENST00000409709.3	+	7	1002	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	MYO7A_ENST00000409893.1_Missense_Mutation_p.R244C|MYO7A_ENST00000409619.2_Missense_Mutation_p.R233C|MYO7A_ENST00000458637.2_Missense_Mutation_p.R244C	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	244	Myosin motor.		R -> P (in DFNB2). {ECO:0000269|PubMed:9171832}.		actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.R244C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACGTGTCTGTCGCCAGGTGGG	0.612																																					p.R244C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C730T	11						.		CYS/ARG,CYS/ARG,CYS/ARG	0,4056		0,0,2028	60.0	65.0	63.0		730,730,730	4.2	1.0	11		63	1,8319		0,1,4159	no	missense,missense,missense	MYO7A	NM_000260.3,NM_001127179.2,NM_001127180.1	180,180,180	0,1,6187	TT,TC,CC		0.012,0.0,0.0081	probably-damaging,probably-damaging,probably-damaging	244/2216,244/1179,244/2176	76868045	1,12375	2028	4160	6188	76545693	SO:0001583	missense	4647	exon7			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.730C>T	11.37:g.76868045C>T	ENSP00000386331:p.Arg244Cys		76545693	NM_001127179	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	c	14.33	2.501987	0.44455	0.0	1.2E-4	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32	5.2	4.2	0.49525	Myosin head, motor domain (2);	0.000000	0.64402	D	0.000001	D	0.93067	0.7793	M	0.82630	2.6	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.995	D;D;D	0.65443	0.935;0.921;0.91	D	0.93347	0.6715	10	0.48119	T	0.1	.	16.6166	0.84917	0.1685:0.8315:0.0:0.0	.	244;244;244	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	C	244;244;244;233;243;243;243;243	ENSP00000386331:R244C;ENSP00000386689:R244C;ENSP00000392185:R244C;ENSP00000386635:R233C	ENSP00000345075:R243C	R	+	1	0	MYO7A	76545693	0.815000	0.29118	1.000000	0.80357	0.442000	0.32017	0.743000	0.26231	2.412000	0.81896	0.651000	0.88453	CGC		0.612	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260	
PAK1	5058	broad.mit.edu	37	11	77066713	77066713	+	Splice_Site	SNP	G	G	A	rs201726311		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:77066713G>A	ENST00000356341.3	-	7	1303	c.772C>T	c.(772-774)Cga>Tga	p.R258*	PAK1_ENST00000278568.4_Splice_Site_p.R258*|PAK1_ENST00000530617.1_Splice_Site_p.R258*|PAK1_ENST00000528203.1_Splice_Site_p.R160*|PAK1_ENST00000525542.1_Intron	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	258	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R258*(3)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					AATTCCTTACGTAATTTCTCC	0.443																																					p.R258X												.	.	3	Substitution - Nonsense(3)	endometrium(2)|large_intestine(1)	c.C772T	11						.						221.0	213.0	216.0					11																	77066713		2200	4292	6492	76744361	SO:0001630	splice_region_variant	5058	exon7			U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.772+1C>T	11.37:g.77066713G>A			76744361	NM_002576	O75561|Q13567|Q32M53|Q32M54|Q86W79	Nonsense_Mutation	SNP	ENST00000356341.3	37	CCDS8250.1	.	.	.	.	.	.	.	.	.	.	G	41	8.542275	0.98857	.	.	ENSG00000149269	ENST00000356341;ENST00000530617;ENST00000278568;ENST00000528203	.	.	.	5.32	4.35	0.52113	.	0.155560	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3337	0.60505	0.0:0.0:0.7904:0.2096	.	.	.	.	X	258;258;258;160	.	.	R	-	1	2	PAK1	76744361	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.564000	0.53791	2.769000	0.95229	0.491000	0.48974	CGA		0.443	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576	Nonsense_Mutation
DLG2	1740	broad.mit.edu	37	11	83243779	83243779	+	Missense_Mutation	SNP	G	G	A	rs143791443		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:83243779G>A	ENST00000532653.1	-	16	2152	c.1850C>T	c.(1849-1851)gCc>gTc	p.A617V	DLG2_ENST00000543673.1_Missense_Mutation_p.A722V|DLG2_ENST00000426717.2_Missense_Mutation_p.A99V|DLG2_ENST00000418306.2_Missense_Mutation_p.A514V|DLG2_ENST00000280241.8_Missense_Mutation_p.A656V|DLG2_ENST00000376104.2_Missense_Mutation_p.A722V|DLG2_ENST00000398309.2_Missense_Mutation_p.A617V|DLG2_ENST00000531015.1_Missense_Mutation_p.A584V|DLG2_ENST00000530800.1_Missense_Mutation_p.A126V|DLG2_ENST00000398304.1_Missense_Mutation_p.A99V|DLG2_ENST00000537455.1_Missense_Mutation_p.A371V|DLG2_ENST00000524982.1_Missense_Mutation_p.A617V|DLG2_ENST00000376106.3_Missense_Mutation_p.A99V|DLG2_ENST00000404783.3_Missense_Mutation_p.A99V|DLG2_ENST00000330014.6_Missense_Mutation_p.A556V			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	328					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.A617V(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCCAGGTTTGGCATTAAACTT	0.388																																					p.A514V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1541T	11						.						199.0	179.0	185.0					11																	83243779		1875	4109	5984	82921427	SO:0001583	missense	1740	exon13			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1850C>T	11.37:g.83243779G>A	ENSP00000435849:p.Ala617Val		82921427	NM_001142700	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	G	24.1	4.494312	0.85069	.	.	ENSG00000150672	ENST00000398309;ENST00000426717;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000404783;ENST00000330014;ENST00000537455;ENST00000376106;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000420775;ENST00000524601;ENST00000398304;ENST00000530800	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.77	5.77	0.91146	Src homology-3 domain (1);	0.000000	0.64402	D	0.000001	D	0.90041	0.6890	M	0.65498	2.005	0.80722	D	1	D;B;B;B;B;P;P;P	0.71674	0.998;0.134;0.002;0.078;0.072;0.51;0.683;0.699	D;B;B;B;B;B;B;P	0.66084	0.941;0.031;0.007;0.031;0.09;0.33;0.333;0.562	D	0.88382	0.3002	9	.	.	.	.	19.973	0.97292	0.0:0.0:1.0:0.0	.	584;617;617;556;99;722;617;514	E9PIW2;B7Z2T4;E9PN83;B7Z264;B5MCC5;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	V	617;99;722;514;722;656;99;556;371;99;617;617;722;584;99;99;99;126	ENSP00000381355:A617V;ENSP00000393049:A99V;ENSP00000365272:A722V;ENSP00000402275:A514V;ENSP00000441994:A722V;ENSP00000280241:A656V;ENSP00000385113:A99V;ENSP00000381353:A556V;ENSP00000443248:A371V;ENSP00000365274:A99V;ENSP00000432894:A617V;ENSP00000435849:A617V;ENSP00000433848:A584V;ENSP00000391017:A99V;ENSP00000436020:A99V;ENSP00000381349:A99V;ENSP00000436302:A126V	.	A	-	2	0	DLG2	82921427	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.386000	0.97228	2.885000	0.99019	0.655000	0.94253	GCC		0.388	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364	
FAT3	120114	broad.mit.edu	37	11	92086081	92086081	+	Missense_Mutation	SNP	T	T	C	rs188968079		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:92086081T>C	ENST00000298047.6	+	1	820	c.803T>C	c.(802-804)gTa>gCa	p.V268A	FAT3_ENST00000409404.2_Missense_Mutation_p.V268A|FAT3_ENST00000541502.1_Missense_Mutation_p.V268A|FAT3_ENST00000525166.1_Missense_Mutation_p.V118A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	268	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V268A(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACAATCCATGTAGTCACTCAT	0.438										TCGA Ovarian(4;0.039)																											p.V268A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T803C	11						.						170.0	162.0	165.0					11																	92086081		2025	4191	6216	91725729	SO:0001583	missense	120114	exon1			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.803T>C	11.37:g.92086081T>C	ENSP00000298047:p.Val268Ala		91725729	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	T	0.432	-0.902855	0.02453	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.09	3.96	0.45880	.	.	.	.	.	T	0.36220	0.0959	N	0.17278	0.47	0.23473	N	0.997607	B	0.25351	0.124	B	0.24269	0.052	T	0.22906	-1.0203	9	0.10902	T	0.67	.	7.8085	0.29217	0.0:0.1631:0.0:0.8369	.	268	Q8TDW7-3	.	A	268;268;268;118	ENSP00000298047:V268A;ENSP00000387040:V268A;ENSP00000443786:V268A;ENSP00000432586:V118A	ENSP00000298047:V268A	V	+	2	0	FAT3	91725729	0.976000	0.34144	0.145000	0.22337	0.681000	0.39784	1.850000	0.39328	0.872000	0.35775	0.455000	0.32223	GTA		0.438	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92565107	92565107	+	Silent	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:92565107A>G	ENST00000298047.6	+	13	9818	c.9801A>G	c.(9799-9801)acA>acG	p.T3267T	FAT3_ENST00000409404.2_Silent_p.T3267T|FAT3_ENST00000525166.1_Silent_p.T3117T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3267	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T3267T(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATATTGGCACAAATGCTGAGA	0.488										TCGA Ovarian(4;0.039)																											p.T3267T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A9801G	11						.						44.0	44.0	44.0					11																	92565107		1936	4144	6080	92204755	SO:0001819	synonymous_variant	120114	exon13			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9801A>G	11.37:g.92565107A>G			92204755	NM_001008781	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																					0.488	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92616112	92616112	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:92616112G>A	ENST00000298047.6	+	23	12507	c.12490G>A	c.(12490-12492)Gtc>Atc	p.V4164I	FAT3_ENST00000409404.2_Missense_Mutation_p.V4164I|FAT3_ENST00000525166.1_Missense_Mutation_p.V4014I|FAT3_ENST00000533797.1_Missense_Mutation_p.V499I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4164					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V739I(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGTCCTCTTCGTCATCTTCAT	0.592										TCGA Ovarian(4;0.039)																											p.V4164I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G12490A	11						.						80.0	103.0	95.0					11																	92616112		2080	4205	6285	92255760	SO:0001583	missense	120114	exon23			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12490G>A	11.37:g.92616112G>A	ENSP00000298047:p.Val4164Ile		92255760	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	3.210	-0.161804	0.06502	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.86230	-0.96;-0.97;-0.97;-2.09	5.85	3.95	0.45737	.	.	.	.	.	T	0.79667	0.4485	L	0.50919	1.6	0.80722	D	1	B;B	0.22909	0.077;0.028	B;B	0.19148	0.024;0.005	T	0.67768	-0.5585	9	0.07813	T	0.8	.	8.7428	0.34567	0.1359:0.1258:0.7383:0.0	.	4164;4164	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	I	4164;4164;4014;499	ENSP00000298047:V4164I;ENSP00000387040:V4164I;ENSP00000432586:V4014I;ENSP00000436399:V499I	ENSP00000298047:V4164I	V	+	1	0	FAT3	92255760	0.998000	0.40836	0.790000	0.31976	0.875000	0.50365	2.603000	0.46266	0.785000	0.33685	0.655000	0.94253	GTC		0.592	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
ST14	6768	broad.mit.edu	37	11	130066300	130066300	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr11:130066300G>A	ENST00000278742.5	+	10	1598	c.1180G>A	c.(1180-1182)Gcg>Acg	p.A394T		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	394	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A394T(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CGGCGTGCCTGCGGGCACCTG	0.637																																					p.A394T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1180A	11						.						45.0	38.0	40.0					11																	130066300		2201	4297	6498	129571510	SO:0001583	missense	6768	exon10			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1180G>A	11.37:g.130066300G>A	ENSP00000278742:p.Ala394Thr		129571510	NM_021978	Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.663310	0.00772	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	T	0.19669	2.13	4.62	-2.57	0.06248	CUB (5);	3.223420	0.01704	N	0.027361	T	0.10508	0.0257	N	0.03948	-0.315	0.09310	N	1	B;B	0.24483	0.104;0.03	B;B	0.25614	0.062;0.05	T	0.26360	-1.0105	10	0.19147	T	0.46	.	10.4255	0.44375	0.1078:0.1785:0.6423:0.0714	.	204;394	B4DYI7;Q9Y5Y6	.;ST14_HUMAN	T	394;296	ENSP00000278742:A394T	ENSP00000278742:A394T	A	+	1	0	ST14	129571510	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.254000	0.08781	-0.978000	0.03533	-2.242000	0.00287	GCG		0.637	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1		
IFT81	28981	broad.mit.edu	37	12	110630424	110630425	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:110630424_110630425insA	ENST00000242591.5	+	14	1976_1977	c.1470_1471insA	c.(1471-1473)aaafs	p.K491fs	IFT81_ENST00000552912.1_Frame_Shift_Ins_p.K491fs	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	491					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)	p.L493fs*7(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AATAACAGGTGAAAAAACTGTA	0.277																																					p.V490fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1470_1471insA	12						.																																			109114808	SO:0001589	frameshift_variant	28981	exon14			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1476dupA	12.37:g.110630430_110630430dupA	ENSP00000242591:p.Lys491fs		109114807	NM_014055	Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Frame_Shift_Ins	INS	ENST00000242591.5	37	CCDS41831.1																																																																																				0.277	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055	
NUAK1	9891	broad.mit.edu	37	12	106461470	106461470	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:106461470G>A	ENST00000261402.2	-	7	2475	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	366					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.R366W(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TTCAGCGACCGCTGCCGCTCT	0.557																																					p.R366W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1096T	12						.						88.0	86.0	87.0					12																	106461470		2203	4300	6503	104985600	SO:0001583	missense	9891	exon7			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1096C>T	12.37:g.106461470G>A	ENSP00000261402:p.Arg366Trp		104985600	NM_014840	A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044934	0.55110	.	.	ENSG00000074590	ENST00000261402;ENST00000553094	T;T	0.75154	-0.91;1.37	5.67	3.77	0.43336	Protein kinase-like domain (1);	0.000000	0.53938	D	0.000045	D	0.83788	0.5330	M	0.66939	2.045	0.58432	D	0.999992	D	0.89917	1.0	D	0.74023	0.982	D	0.85804	0.1375	10	0.66056	D	0.02	.	14.6359	0.68689	0.0:0.0:0.5345:0.4655	.	366	O60285	NUAK1_HUMAN	W	366;81	ENSP00000261402:R366W;ENSP00000446873:R81W	ENSP00000261402:R366W	R	-	1	2	NUAK1	104985600	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	2.144000	0.42197	1.368000	0.46115	0.561000	0.74099	CGG		0.557	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840	
CKAP4	10970	broad.mit.edu	37	12	106633360	106633360	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:106633360C>A	ENST00000378026.4	-	2	1387	c.1251G>T	c.(1249-1251)gaG>gaT	p.E417D	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	417						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.E417D(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						GCACCCCATCCTCCACGTGCT	0.657																																					p.E417D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1251T	12						.						58.0	60.0	60.0					12																	106633360		2203	4300	6503	105157490	SO:0001583	missense	10970	exon2			X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.1251G>T	12.37:g.106633360C>A	ENSP00000367265:p.Glu417Asp		105157490	NM_006825	Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	37	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084444	0.36758	.	.	ENSG00000136026	ENST00000378026	T	0.78481	-1.18	5.95	1.63	0.23807	.	0.000000	0.85682	D	0.000000	D	0.84651	0.5519	M	0.77103	2.36	0.43622	D	0.996009	D	0.64830	0.994	P	0.61800	0.894	D	0.83576	0.0115	10	0.52906	T	0.07	-35.255	12.0911	0.53726	0.0:0.6754:0.0:0.3246	.	417	Q07065	CKAP4_HUMAN	D	417	ENSP00000367265:E417D	ENSP00000367265:E417D	E	-	3	2	CKAP4	105157490	0.987000	0.35691	0.018000	0.16275	0.208000	0.24298	0.285000	0.18883	0.060000	0.16281	0.655000	0.94253	GAG		0.657	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1		
WSCD2	9671	broad.mit.edu	37	12	108589662	108589662	+	Missense_Mutation	SNP	G	G	A	rs199708893		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:108589662G>A	ENST00000332082.4	+	3	871	c.53G>A	c.(52-54)cGc>cAc	p.R18H	WSCD2_ENST00000547525.1_Missense_Mutation_p.R18H|WSCD2_ENST00000261400.3_Missense_Mutation_p.R18H|WSCD2_ENST00000549903.1_Missense_Mutation_p.R18H			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	18						integral component of membrane (GO:0016021)		p.R18H(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						AAACCTGTGCGCTTCTTTACC	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20710	0.0		0.0	False		,,,				2504	0.0				p.R18H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G53A	12						.	G	HIS/ARG	2,3976		0,2,1987	78.0	83.0	81.0		53	5.7	1.0	12		81	5,8327		0,5,4161	yes	missense	WSCD2	NM_014653.2	29	0,7,6148	AA,AG,GG		0.06,0.0503,0.0569	probably-damaging	18/566	108589662	7,12303	1989	4166	6155	107113792	SO:0001583	missense	9671	exon2				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.53G>A	12.37:g.108589662G>A	ENSP00000331933:p.Arg18His		107113792	NM_014653	B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	34	5.353801	0.95830	5.03E-4	6.0E-4	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.33216	1.43;1.42;1.43;1.42	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.56153	-0.8026	10	0.66056	D	0.02	-32.7757	18.8897	0.92395	0.0:0.0:1.0:0.0	.	18	Q2TBF2	WSCD2_HUMAN	H	18	ENSP00000448047:R18H;ENSP00000261400:R18H;ENSP00000331933:R18H;ENSP00000447272:R18H	ENSP00000261400:R18H	R	+	2	0	WSCD2	107113792	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.317000	0.96327	2.704000	0.92352	0.655000	0.94253	CGC		0.592	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653	
YBX3	8531	broad.mit.edu	37	12	10862703	10862703	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:10862703T>C	ENST00000228251.4	-	6	784	c.584A>G	c.(583-585)gAg>gGg	p.E195G	YBX3_ENST00000279550.7_Intron|YBX3_ENST00000546164.1_5'UTR	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	195					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.E195G(1)									CTCCTCCTCCTCCCCAGCGTA	0.507																																					p.E195G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A584G	12						.						15.0	16.0	16.0					12																	10862703		2201	4300	6501	10753970	SO:0001583	missense	8531	exon6			L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"""cold-shock domain containing A1"""	603437	"""cold shock domain protein A"""	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.584A>G	12.37:g.10862703T>C	ENSP00000228251:p.Glu195Gly		10753970	NM_003651	B2RBW6|Q14121|Q969N6|Q96B76	Missense_Mutation	SNP	ENST00000228251.4	37	CCDS8630.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.945642	0.73672	.	.	ENSG00000060138	ENST00000228251	T	0.25579	1.79	5.1	5.1	0.69264	.	0.000000	0.53938	D	0.000042	T	0.40719	0.1128	L	0.45137	1.4	0.44780	D	0.997787	D	0.71674	0.998	D	0.72982	0.979	T	0.22977	-1.0201	10	0.66056	D	0.02	.	11.1873	0.48664	0.0:0.0:0.0:1.0	.	195	P16989	DBPA_HUMAN	G	195	ENSP00000228251:E195G	ENSP00000228251:E195G	E	-	2	0	CSDA	10753970	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.641000	0.54360	2.132000	0.65825	0.533000	0.62120	GAG		0.507	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651	
WSCD2	9671	broad.mit.edu	37	12	108604021	108604021	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:108604021C>T	ENST00000332082.4	+	5	1439	c.621C>T	c.(619-621)tgC>tgT	p.C207C	WSCD2_ENST00000547525.1_Silent_p.C207C|WSCD2_ENST00000261400.3_Silent_p.C207C|WSCD2_ENST00000549903.1_Silent_p.C207C			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	207	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)		p.C207C(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCAGCGTGTGCGGCGGCGCCA	0.682																																					p.C207C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C621T	12						.						15.0	21.0	19.0					12																	108604021		2198	4280	6478	107128151	SO:0001819	synonymous_variant	9671	exon4				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.621C>T	12.37:g.108604021C>T			107128151	NM_014653	B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	ENST00000332082.4	37	CCDS41828.1																																																																																				0.682	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653	
MVK	4598	broad.mit.edu	37	12	110017673	110017673	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:110017673C>T	ENST00000228510.3	+	4	369	c.293C>T	c.(292-294)cCt>cTt	p.P98L	MVK_ENST00000535044.1_Intron|MVK_ENST00000541384.1_Intron|MVK_ENST00000392727.3_Missense_Mutation_p.P98L|MVK_ENST00000539575.1_Missense_Mutation_p.P98L|MVK_ENST00000539696.1_Intron	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	98					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)	p.P98L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GCAGGCTTGCCTGACGACTGT	0.552																																					p.P98L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C293T	12						.						125.0	100.0	108.0					12																	110017673		2203	4300	6503	108502056	SO:0001583	missense	4598	exon4			M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"""LH receptor mRNA-binding protein"", ""mevalonic aciduria"""	251170	"""mevalonate kinase (mevalonic aciduria)"""			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.293C>T	12.37:g.110017673C>T	ENSP00000228510:p.Pro98Leu		108502056	NM_001114185		Missense_Mutation	SNP	ENST00000228510.3	37	CCDS9132.1	.	.	.	.	.	.	.	.	.	.	C	8.938	0.965034	0.18583	.	.	ENSG00000110921	ENST00000539335;ENST00000546277;ENST00000228510;ENST00000392727;ENST00000539575	D;D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74;-2.74	5.07	4.16	0.48862	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.590470	0.18806	N	0.130656	D	0.85487	0.5708	L	0.56396	1.775	0.26792	N	0.969373	B;B	0.27013	0.0;0.166	B;B	0.19946	0.004;0.027	T	0.71062	-0.4701	10	0.11485	T	0.65	-6.4122	9.9811	0.41813	0.0:0.9005:0.0:0.0995	.	98;98	F5H8H2;Q03426	.;KIME_HUMAN	L	98	ENSP00000440379:P98L;ENSP00000438153:P98L;ENSP00000228510:P98L;ENSP00000376487:P98L;ENSP00000443551:P98L	ENSP00000228510:P98L	P	+	2	0	MVK	108502056	0.007000	0.16637	0.019000	0.16419	0.129000	0.20672	2.276000	0.43408	2.501000	0.84356	0.462000	0.41574	CCT		0.552	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403143.1	NM_000431	
GIT2	9815	broad.mit.edu	37	12	110371862	110371862	+	Missense_Mutation	SNP	C	C	T	rs146384144	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:110371862C>T	ENST00000355312.3	-	19	2031	c.2032G>A	c.(2032-2034)Gta>Ata	p.V678I	GIT2_ENST00000354574.4_Missense_Mutation_p.V600I|GIT2_ENST00000338373.5_Missense_Mutation_p.V580I|GIT2_ENST00000551209.1_Missense_Mutation_p.V627I|GIT2_ENST00000361006.5_Missense_Mutation_p.V648I|GIT2_ENST00000553118.1_Missense_Mutation_p.V550I|GIT2_ENST00000457474.2_Missense_Mutation_p.V600I|GIT2_ENST00000343646.5_Missense_Mutation_p.V568I|GIT2_ENST00000548655.1_5'UTR|GIT2_ENST00000356259.4_Missense_Mutation_p.V565I|GIT2_ENST00000360185.4_Missense_Mutation_p.V628I|TCHP_ENST00000550780.1_Intron	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	678					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.V678I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GTAACAGCTACGTGTATCCTC	0.368											OREG0022113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0.0	0.0	5008	,	,		22374	0.0		0.002	False		,,,				2504	0.0				p.V648I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1942A	12						.	C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	117.0	111.0	113.0		1798,1942,1792,2032,1648	2.8	0.0	12	dbSNP_134	113	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense	GIT2	NM_001135213.1,NM_001135214.1,NM_014776.3,NM_057169.3,NM_057170.3	29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	600/682,648/730,598/680,678/760,550/632	110371862	1,13005	2203	4300	6503	108856245	SO:0001583	missense	9815	exon18			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.2032G>A	12.37:g.110371862C>T	ENSP00000347464:p.Val678Ile	1427	108856245	NM_001135214	Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	CCDS9138.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	13.80	2.344251	0.41498	2.27E-4	0.0	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000343646;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209;ENST00000552978;ENST00000542273;ENST00000546613;ENST00000548000;ENST00000548655	T;T;T;T;T;T;T;T;T;T	0.73575	-0.65;-0.66;-0.63;-0.59;-0.76;-0.59;-0.6;-0.7;-0.68;-0.69	5.66	2.85	0.33270	G protein-coupled receptor kinase-interacting protein 1 C term (1);	0.306160	0.35349	N	0.003278	T	0.62925	0.2468	L	0.53249	1.67	0.09310	N	1	B;B;P;B;B	0.39964	0.24;0.24;0.697;0.283;0.028	B;B;B;B;B	0.33454	0.065;0.065;0.113;0.164;0.01	T	0.53330	-0.8454	10	0.39692	T	0.17	.	8.3885	0.32514	0.0:0.7321:0.1279:0.14	.	600;600;550;678;648	Q14161-10;F8WAK2;Q14161-11;Q14161;Q14161-5	.;.;.;GIT2_HUMAN;.	I	678;628;600;580;568;565;600;648;550;627;64;586;64;80;80	ENSP00000347464:V678I;ENSP00000353312:V628I;ENSP00000346585:V600I;ENSP00000340342:V580I;ENSP00000340938:V568I;ENSP00000348595:V565I;ENSP00000391813:V600I;ENSP00000354282:V648I;ENSP00000447465:V550I;ENSP00000448832:V627I	ENSP00000340342:V580I	V	-	1	0	GIT2	108856245	0.004000	0.15560	0.000000	0.03702	0.973000	0.67179	0.707000	0.25704	0.328000	0.23435	0.563000	0.77884	GTA		0.368	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169	
ALDH2	217	broad.mit.edu	37	12	112223124	112223124	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:112223124T>G	ENST00000261733.2	+	4	475	c.414T>G	c.(412-414)gaT>gaG	p.D138E	RP11-162P23.2_ENST00000546840.2_Missense_Mutation_p.I135S|ALDH2_ENST00000416293.3_Missense_Mutation_p.D91E	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	138					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)	p.D138E(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	ACCTGGTGGATTTGGACATGG	0.502			T	HMGA2	leiomyoma																																p.D138E			Dom	yes		12	12q24.2	217	aldehyde dehydrogenase 2 family (mitochondrial)		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T414G	12						.						167.0	142.0	151.0					12																	112223124		2203	4300	6503	110707507	SO:0001583	missense	217	exon4			M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.414T>G	12.37:g.112223124T>G	ENSP00000261733:p.Asp138Glu		110707507	NM_000690	B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	ENST00000261733.2	37	CCDS9155.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740237	0.69304	.	.	ENSG00000257767;ENSG00000111275;ENSG00000111275;ENSG00000111275	ENST00000546840;ENST00000416293;ENST00000261733;ENST00000553044	T;T	0.11495	2.77;2.77	5.73	-0.657	0.11432	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.045379	0.85682	D	0.000000	T	0.11495	0.0280	N	0.20807	0.61	0.80722	D	1	P;P;P	0.49185	0.92;0.878;0.88	P;P;P	0.54924	0.764;0.76;0.69	T	0.03268	-1.1054	10	0.46703	T	0.11	.	10.4086	0.44278	0.0:0.4133:0.0:0.5867	.	91;138;138	E7EUE5;F8VXI5;P05091	.;.;ALDH2_HUMAN	E	119;91;138;138	ENSP00000403349:D91E;ENSP00000261733:D138E	ENSP00000261733:D138E	D	+	3	2	ALDH2;RP11-162P23.2	110707507	0.011000	0.17503	0.762000	0.31397	0.896000	0.52359	0.112000	0.15479	-0.111000	0.12001	-0.290000	0.09829	GAT		0.502	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690	
SDSL	113675	broad.mit.edu	37	12	113875787	113875787	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:113875787C>A	ENST00000403593.4	+	8	1155	c.893C>A	c.(892-894)cCc>cAc	p.P298H	SDSL_ENST00000345635.4_Missense_Mutation_p.P298H			Q96GA7	SDSL_HUMAN	serine dehydratase-like	298					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)	p.P298H(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						GGCTGCCTGCCCCCTTCCCTG	0.612																																					p.P298H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C893A	12						.						147.0	153.0	151.0					12																	113875787		2203	4300	6503	112360170	SO:0001583	missense	113675	exon9			AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.893C>A	12.37:g.113875787C>A	ENSP00000385790:p.Pro298His		112360170	NM_138432		Missense_Mutation	SNP	ENST00000403593.4	37	CCDS9170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.506|0.506	-0.868811|-0.868811	0.02570|0.02570	.|.	.|.	ENSG00000139410|ENSG00000139410	ENST00000403593;ENST00000345635|ENST00000546672	.|.	.|.	.|.	4.23|4.23	-1.25|-1.25	0.09405|0.09405	Pyridoxal phosphate-dependent enzyme, beta subunit (2);|.	1.357460|1.357460	0.05221|0.05221	N|N	0.508541|0.508541	T|T	0.32436|0.32436	0.0829|0.0829	L|L	0.41961|0.41961	1.31|1.31	0.09310|0.09310	N|N	1|1	B|.	0.11235|.	0.004|.	B|.	0.13407|.	0.009|.	T|T	0.18871|0.18871	-1.0323|-1.0323	9|7	0.44086|0.14252	T|T	0.13|0.57	0.5228|0.5228	5.2897|5.2897	0.15719|0.15719	0.306:0.2637:0.4303:0.0|0.306:0.2637:0.4303:0.0	.|.	298|.	Q96GA7|.	SDSL_HUMAN|.	H|T	298|194	.|.	ENSP00000341117:P298H|ENSP00000449136:P194T	P|P	+|+	2|1	0|0	SDSL|SDSL	112360170|112360170	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.272000|0.272000	0.18644|0.18644	-0.546000|-0.546000	0.06216|0.06216	-1.086000|-1.086000	0.02197|0.02197	CCC|CCC		0.612	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	NM_138432	
RNFT2	84900	broad.mit.edu	37	12	117274039	117274039	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:117274039C>T	ENST00000257575.4	+	10	1385	c.1152C>T	c.(1150-1152)tgC>tgT	p.C384C	RNFT2_ENST00000392549.2_Silent_p.C384C|RNFT2_ENST00000319176.7_Intron|RNFT2_ENST00000407967.3_Silent_p.C384C|RNFT2_ENST00000551251.1_3'UTR			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	384						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.C294C(1)		endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GTGACATCTGCGCCATCTGTC	0.602																																					p.C384C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1152T	12						.						38.0	32.0	34.0					12																	117274039		2203	4298	6501	115758422	SO:0001819	synonymous_variant	84900	exon10			AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"""RING-type (C3HC4) zinc fingers"""	25905	protein-coding gene	gene with protein product			"""transmembrane protein 118"""	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.1152C>T	12.37:g.117274039C>T			115758422	NM_032814	E9PAM7|Q96SU5	Silent	SNP	ENST00000257575.4	37	CCDS44987.1																																																																																				0.602	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814	
CAMKK2	10645	broad.mit.edu	37	12	121683022	121683022	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:121683022G>A	ENST00000324774.5	-	15	2302	c.1474C>T	c.(1474-1476)Cgt>Tgt	p.R492C	CAMKK2_ENST00000347034.2_Missense_Mutation_p.R449C|CAMKK2_ENST00000545538.1_Missense_Mutation_p.R279C|CAMKK2_ENST00000392474.2_Missense_Mutation_p.R492C|CAMKK2_ENST00000412367.2_Missense_Mutation_p.R492C|CAMKK2_ENST00000392473.2_Missense_Mutation_p.R492C|CAMKK2_ENST00000446440.2_Missense_Mutation_p.R449C|CAMKK2_ENST00000337174.3_Missense_Mutation_p.R492C|CAMKK2_ENST00000538733.1_Missense_Mutation_p.R449C|CAMKK2_ENST00000404169.3_Missense_Mutation_p.R492C|CAMKK2_ENST00000402834.4_Missense_Mutation_p.R492C	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	492	Calmodulin-binding. {ECO:0000250}.		R -> H (in dbSNP:rs34129994). {ECO:0000269|PubMed:17344846}.		calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)	p.R492C(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAGCGTTTACGTATCATGGTC	0.587																																					p.R449C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1345T	12						.						54.0	49.0	51.0					12																	121683022		2203	4300	6503	120167405	SO:0001583	missense	10645	exon14			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.1474C>T	12.37:g.121683022G>A	ENSP00000312741:p.Arg492Cys		120167405	NM_172215	A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	ENST00000324774.5	37	CCDS9216.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739760	0.69304	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000545538;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473	T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	4.93	4.93	0.64822	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.70020	0.3176	M	0.76838	2.35	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.996;0.998;1.0;1.0;0.999;0.996;0.998	D;P;P;D;D;P;P;P	0.76575	0.988;0.843;0.843;0.921;0.988;0.891;0.701;0.843	T	0.75105	-0.3435	10	0.87932	D	0	-0.0453	17.1216	0.86702	0.0:0.0:1.0:0.0	.	449;492;492;279;449;449;492;492	Q96RR4-6;Q96RR4-2;Q96RR4-7;F5GZ00;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;.;KKCC2_HUMAN;.	C	492;449;449;492;492;279;492;492;475;449;492	ENSP00000376266:R492C;ENSP00000321230:R449C;ENSP00000445944:R449C;ENSP00000336634:R492C;ENSP00000312741:R492C;ENSP00000441352:R279C;ENSP00000388368:R492C;ENSP00000384600:R492C;ENSP00000388273:R449C;ENSP00000376265:R492C	ENSP00000312741:R492C	R	-	1	0	CAMKK2	120167405	1.000000	0.71417	0.081000	0.20488	0.581000	0.36288	3.054000	0.49908	2.290000	0.77057	0.561000	0.74099	CGT		0.587	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226	
BCL7A	605	broad.mit.edu	37	12	122468669	122468669	+	Silent	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:122468669G>T	ENST00000261822.4	+	2	362	c.156G>T	c.(154-156)acG>acT	p.T52T	BCL7A_ENST00000538010.1_Silent_p.T52T	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	52					negative regulation of transcription, DNA-templated (GO:0045892)			p.T52T(2)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		TCCCTGTGACGGAGCCCAAGG	0.582			T	MYC	BNHL																																p.T52T	GBM(17;197 467 16477 23242 44349)		Dom	yes		12	12q24.1	605	B-cell CLL/lymphoma 7A		L	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G156T	12						.						157.0	124.0	135.0					12																	122468669		2203	4300	6503	120953052	SO:0001819	synonymous_variant	605	exon2			X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987			1004	protein-coding gene	gene with protein product		601406		BCL7		8605326, 9931421	Standard	NM_020993		Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.156G>T	12.37:g.122468669G>T			120953052	NM_020993	B4DJN6|B7ZB21|Q13843|Q14CT7	Silent	SNP	ENST00000261822.4	37	CCDS53841.1																																																																																				0.582	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000401712.1		
DNAH10	196385	broad.mit.edu	37	12	124411208	124411208	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:124411208C>A	ENST00000409039.3	+	68	11617	c.11592C>A	c.(11590-11592)agC>agA	p.S3864R	DNAH10OS_ENST00000514254.2_3'UTR|RP11-380L11.4_ENST00000602952.1_RNA|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3864	AAA 6. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S3864R(1)|p.S2456R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAATGATCAGCTTTGAAGCTA	0.517																																					p.S3864R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C11592A	12						.						94.0	89.0	91.0					12																	124411208		1970	4165	6135	122977161	SO:0001583	missense	196385	exon68			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.11592C>A	12.37:g.124411208C>A	ENSP00000386770:p.Ser3864Arg		122977161	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296069	0.60086	.	.	ENSG00000197653	ENST00000409039	T	0.08458	3.09	4.79	4.79	0.61399	Dynein heavy chain (1);	0.053203	0.85682	D	0.000000	T	0.12987	0.0315	L	0.58302	1.8	0.80722	D	1	P	0.36086	0.536	B	0.36464	0.225	T	0.03240	-1.1057	10	0.49607	T	0.09	.	17.8111	0.88616	0.0:1.0:0.0:0.0	.	3864	Q8IVF4	DYH10_HUMAN	R	3864	ENSP00000386770:S3864R	ENSP00000386770:S3864R	S	+	3	2	DNAH10	122977161	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	3.250000	0.51445	2.202000	0.70862	0.555000	0.69702	AGC		0.517	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124415973	124415973	+	Silent	SNP	G	G	A	rs373714467	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:124415973G>A	ENST00000409039.3	+	73	12541	c.12516G>A	c.(12514-12516)gcG>gcA	p.A4172A	DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4172					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A2764A(1)|p.A4172A(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACACGCAGGCGGCTCGAGACA	0.537													G|||	11	0.00219649	0.0	0.0	5008	,	,		19245	0.0109		0.0	False		,,,				2504	0.0				p.A4172A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G12516A	12						.						38.0	44.0	42.0					12																	124415973		2085	4215	6300	122981926	SO:0001819	synonymous_variant	196385	exon73			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12516G>A	12.37:g.124415973G>A			122981926	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																				0.537	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
SCARB1	949	broad.mit.edu	37	12	125302128	125302128	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:125302128C>T	ENST00000415380.2	-	2	377	c.252G>A	c.(250-252)ccG>ccA	p.P84P	SCARB1_ENST00000544327.1_Silent_p.P30P|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000541205.1_Silent_p.P43P|SCARB1_ENST00000540495.1_Silent_p.P47P|SCARB1_ENST00000339570.5_Silent_p.P84P|SCARB1_ENST00000546215.1_Silent_p.P84P|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000261693.6_Silent_p.P84P			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	84					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.P84P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CCCGCACCTGCGGCTTCTCGC	0.617																																					p.P84P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G252A	12						.						54.0	56.0	56.0					12																	125302128		2203	4300	6503	123868081	SO:0001819	synonymous_variant	949	exon2			Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.252G>A	12.37:g.125302128C>T			123868081	NM_005505	F8W8N0|Q14016|Q52LZ5|Q6KFX4	Silent	SNP	ENST00000415380.2	37																																																																																					0.617	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505	
PIWIL1	9271	broad.mit.edu	37	12	130839451	130839451	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:130839451G>A	ENST00000245255.3	+	11	1462	c.1190G>A	c.(1189-1191)cGt>cAt	p.R397H		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	397					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.R397H(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GATAAAATGCGTAATGATTTT	0.358																																					p.R397H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1190A	12						.						112.0	104.0	106.0					12																	130839451		2203	4300	6503	129405404	SO:0001583	missense	9271	exon11			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1190G>A	12.37:g.130839451G>A	ENSP00000245255:p.Arg397His		129405404	NM_004764	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761205	0.89932	.	.	ENSG00000125207	ENST00000245255	T	0.13778	2.56	5.38	5.38	0.77491	Argonaute/Dicer protein, PAZ (3);	0.064513	0.64402	D	0.000003	T	0.49915	0.1585	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.971	T	0.63148	-0.6702	10	0.66056	D	0.02	-10.6224	18.1727	0.89751	0.0:0.0:1.0:0.0	.	397;397	Q96J94;Q96J94-2	PIWL1_HUMAN;.	H	397	ENSP00000245255:R397H	ENSP00000245255:R397H	R	+	2	0	PIWIL1	129405404	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.653000	0.98506	2.516000	0.84829	0.558000	0.71614	CGT		0.358	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1		
GPR133	283383	broad.mit.edu	37	12	131622750	131622750	+	Silent	SNP	C	C	T	rs34765022		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:131622750C>T	ENST00000261654.5	+	24	3064	c.2505C>T	c.(2503-2505)aaC>aaT	p.N835N	GPR133_ENST00000543617.1_Silent_p.N354N|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000376682.4_Silent_p.N521N|GPR133_ENST00000535015.1_Silent_p.N867N	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	835					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.N835N(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCACCTCCAACGCGAAGCCCT	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		16580	0.0		0.001	False		,,,				2504	0.0				p.N835N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2505T	12						.	C		0,4406		0,0,2203	90.0	71.0	78.0		2505	-0.2	0.0	12	dbSNP_126	78	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous	GPR133	NM_198827.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		835/875	131622750	2,13004	2203	4300	6503	130188703	SO:0001819	synonymous_variant	283383	exon24			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2505C>T	12.37:g.131622750C>T			130188703	NM_198827	B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	CCDS9272.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	3.018	-0.202417	0.06219	0.0	2.33E-4	ENSG00000111452	ENST00000335486	.	.	.	4.46	-0.207	0.13189	.	.	.	.	.	T	0.31979	0.0814	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30090	-0.9990	4	.	.	.	.	8.0838	0.30760	0.0:0.47:0.0:0.53	rs34765022	.	.	.	M	189	.	.	T	+	2	0	GPR133	130188703	0.201000	0.23410	0.000000	0.03702	0.034000	0.12701	0.158000	0.16422	0.022000	0.15160	-0.254000	0.11334	ACG		0.612	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	
SLC6A12	6539	broad.mit.edu	37	12	309899	309899	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:309899C>T	ENST00000428720.1	-	7	1372	c.629G>A	c.(628-630)cGc>cAc	p.R210H	RP11-283I3.2_ENST00000539568.1_RNA|SLC6A12_ENST00000359674.4_Missense_Mutation_p.R210H|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000536824.1_Missense_Mutation_p.R210H|SLC6A12_ENST00000397296.2_Missense_Mutation_p.R210H|SLC6A12_ENST00000424061.2_Missense_Mutation_p.R210H	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	210					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.R210H(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			CAGCTCCCAGCGCAGGGAGCC	0.582																																					p.R210H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G629A	12						.						108.0	106.0	107.0					12																	309899		2203	4300	6503	180160	SO:0001583	missense	6539	exon7			L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.629G>A	12.37:g.309899C>T	ENSP00000388184:p.Arg210His		180160	NM_001122847	A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	37	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167924	0.78339	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.11	5.11	0.69529	.	0.125147	0.53938	D	0.000043	T	0.78368	0.4272	M	0.76727	2.345	0.53005	D	0.999968	P	0.44006	0.824	B	0.43251	0.413	T	0.82499	-0.0427	10	0.72032	D	0.01	.	18.5238	0.90963	0.0:1.0:0.0:0.0	.	210	P48065	S6A12_HUMAN	H	210	ENSP00000352702:R210H;ENSP00000380464:R210H;ENSP00000388184:R210H;ENSP00000399136:R210H;ENSP00000444268:R210H	ENSP00000352702:R210H	R	-	2	0	SLC6A12	180160	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.223000	0.51231	2.374000	0.81015	0.655000	0.94253	CGC		0.582	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044	
FKBP4	2288	broad.mit.edu	37	12	2907025	2907025	+	Silent	SNP	G	G	A	rs370885732		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:2907025G>A	ENST00000001008.4	+	3	568	c.381G>A	c.(379-381)acG>acA	p.T127T	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	127	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)	p.T127T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			CCAATGCCACGCTTGTATTTG	0.552																																					p.T127T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G381A	12						.						146.0	126.0	133.0					12																	2907025		2203	4300	6503	2777286	SO:0001819	synonymous_variant	2288	exon3			M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"""Tetratricopeptide (TTC) repeat domain containing"""	3720	protein-coding gene	gene with protein product		600611	"""FK506-binding protein 4 (59kD)"""			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.381G>A	12.37:g.2907025G>A			2777286	NM_002014	D3DUQ1|Q9UCP1|Q9UCV7	Silent	SNP	ENST00000001008.4	37	CCDS8512.1																																																																																				0.552	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1		
TEAD4	7004	broad.mit.edu	37	12	3129823	3129823	+	Missense_Mutation	SNP	G	G	A	rs371373848		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:3129823G>A	ENST00000397122.2	+	7	505	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	TEAD4_ENST00000359864.2_Missense_Mutation_p.A203T|TEAD4_ENST00000358409.2_Missense_Mutation_p.A160T	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	203					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A203T(1)		endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			TGCAGGGCCCGCCCCATCGCC	0.667																																					p.A203T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G607A	12						.	G	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	74.0	59.0	64.0		607,478,220	-4.5	0.0	12		64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TEAD4	NM_003213.3,NM_201441.2,NM_201443.2	58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	203/435,160/392,74/306	3129823	1,13005	2203	4300	6503	3000084	SO:0001583	missense	7004	exon9			X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.220G>A	12.37:g.3129823G>A	ENSP00000380311:p.Ala74Thr		3000084	NM_003213	H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	ENST00000397122.2	37	CCDS41737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.25|11.25	1.582068|1.582068	0.28180|0.28180	0.0|0.0	1.16E-4|1.16E-4	ENSG00000197905|ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000397122|ENST00000544666	T;T;T|.	0.31247|.	1.5;1.5;1.5|.	5.34|5.34	-4.48|-4.48	0.03515|0.03515	.|.	0.718192|.	0.13629|.	N|.	0.373861|.	T|T	0.13030|0.13030	0.0316|0.0316	N|N	0.11560|0.11560	0.145|0.145	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.25537|0.25537	-1.0129|-1.0129	10|5	0.40728|.	T|.	0.16|.	-1.0217|-1.0217	1.3431|1.3431	0.02158|0.02158	0.3981:0.0917:0.2531:0.2572|0.3981:0.0917:0.2531:0.2572	.|.	203|.	Q15561|.	TEAD4_HUMAN|.	T|H	160;203;74|125	ENSP00000351184:A160T;ENSP00000352926:A203T;ENSP00000380311:A74T|.	ENSP00000351184:A160T|.	A|R	+|+	1|2	0|0	TEAD4|TEAD4	3000084|3000084	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.703000|-0.703000	0.05063|0.05063	-0.362000|-0.362000	0.08113|0.08113	-0.793000|-0.793000	0.03317|0.03317	GCC|CGC		0.667	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398477.1	NM_003213	
TNFRSF1A	7132	broad.mit.edu	37	12	6443403	6443403	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:6443403A>G	ENST00000162749.2	-	2	346	c.47T>C	c.(46-48)cTg>cCg	p.L16P	TNFRSF1A_ENST00000437813.3_5'UTR|TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.L16P|TNFRSF1A_ENST00000366159.4_Missense_Mutation_p.L16P	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	16					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)	p.L16P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CAACAGCTCCAGGAGCACCTG	0.522																																					p.L16P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T47C	12						.						52.0	54.0	54.0					12																	6443403		2203	4300	6503	6313664	SO:0001583	missense	7132	exon2			M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.47T>C	12.37:g.6443403A>G	ENSP00000162749:p.Leu16Pro		6313664	NM_001065	A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	ENST00000162749.2	37	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	A	9.450	1.090225	0.20390	.	.	ENSG00000067182	ENST00000162749;ENST00000540022;ENST00000539372;ENST00000366159;ENST00000440083;ENST00000536194	D;D;D;D;D;D	0.99042	-3.23;-3.5;-3.97;-4.36;-5.36;-5.34	4.0	0.268	0.15626	.	0.923042	0.09105	N	0.847947	D	0.96476	0.8850	L	0.44542	1.39	0.51012	D	0.999903	B;B;B	0.28552	0.137;0.215;0.137	B;B;B	0.28916	0.022;0.096;0.026	D	0.91331	0.5090	10	0.35671	T	0.21	-4.2333	3.3838	0.07264	0.5705:0.2059:0.2236:0.0	.	16;16;16	B5M0B5;F5H061;P19438	.;.;TNR1A_HUMAN	P	16	ENSP00000162749:L16P;ENSP00000438343:L16P;ENSP00000442059:L16P;ENSP00000380389:L16P;ENSP00000413224:L16P;ENSP00000442919:L16P	ENSP00000162749:L16P	L	-	2	0	TNFRSF1A	6313664	0.140000	0.22579	0.221000	0.23827	0.659000	0.38960	0.296000	0.19083	-0.106000	0.12110	-0.371000	0.07208	CTG		0.522	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065	
USP5	8078	broad.mit.edu	37	12	6965312	6965312	+	Missense_Mutation	SNP	C	C	T	rs369790819		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:6965312C>T	ENST00000229268.8	+	4	488	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	USP5_ENST00000389231.5_Missense_Mutation_p.R146W	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	146					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)	p.R146W(1)		breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TGTCAGAGATCGGGTATGACT	0.512																																					p.R146W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C436T	12						.	C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	116.0	121.0	119.0		436,436	4.8	1.0	12		119	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	USP5	NM_001098536.1,NM_003481.2	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	146/859,146/836	6965312	1,13005	2203	4300	6503	6835573	SO:0001583	missense	8078	exon4			U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.436C>T	12.37:g.6965312C>T	ENSP00000229268:p.Arg146Trp		6835573	NM_003481	D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	ENST00000229268.8	37	CCDS41743.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026758	0.75390	0.0	1.16E-4	ENSG00000111667	ENST00000229268;ENST00000389231	T;T	0.24151	1.87;1.88	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.33933	0.0880	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.59948	0.739;0.866	T	0.06607	-1.0817	10	0.72032	D	0.01	.	12.9418	0.58350	0.2027:0.7973:0.0:0.0	.	146;146	P45974;P45974-2	UBP5_HUMAN;.	W	146	ENSP00000229268:R146W;ENSP00000373883:R146W	ENSP00000229268:R146W	R	+	1	2	USP5	6835573	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	1.941000	0.40233	2.497000	0.84241	0.563000	0.77884	CGG		0.512	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1		
PTPN6	5777	broad.mit.edu	37	12	7067210	7067210	+	Silent	SNP	C	C	T	rs375270811		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:7067210C>T	ENST00000318974.9	+	11	1579	c.1335C>T	c.(1333-1335)caC>caT	p.H445H	PTPN6_ENST00000456013.1_Silent_p.H445H|PTPN6_ENST00000447931.2_Silent_p.H406H|PTPN6_ENST00000399448.1_Silent_p.H447H	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	445	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.H445H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GTCTGCCTCACGCAGGGCCCA	0.552																																					p.H445H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1335T	12						.	C	,,	0,4044		0,0,2022	40.0	43.0	42.0		1335,1341,1335	-9.8	0.0	12		42	1,8383		0,1,4191	no	coding-synonymous,coding-synonymous,coding-synonymous	PTPN6	NM_002831.5,NM_080548.4,NM_080549.3	,,	0,1,6213	TT,TC,CC		0.0119,0.0,0.0080	,,	445/596,447/598,445/625	7067210	1,12427	2022	4192	6214	6937471	SO:0001819	synonymous_variant	5777	exon11				CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.1335C>T	12.37:g.7067210C>T			6937471	NM_002831	A8K306|G3V0F8|Q969V8|Q9UK67	Silent	SNP	ENST00000318974.9	37	CCDS44820.1																																																																																				0.552	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831	
C1RL	51279	broad.mit.edu	37	12	7249035	7249035	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:7249035C>T	ENST00000266542.4	-	6	1508	c.1416G>A	c.(1414-1416)gtG>gtA	p.V472V	C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	472	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)	p.V472V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CATAGCTGAGCACCTTGGTGT	0.557																																					p.V472V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1416A	12						.						128.0	117.0	120.0					12																	7249035		2203	4300	6503	7140177	SO:0001819	synonymous_variant	51279	exon6			AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.1416G>A	12.37:g.7249035C>T			7140177	NM_016546	Q53GX9	Silent	SNP	ENST00000266542.4	37	CCDS8573.1																																																																																				0.557	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546	
CD163	9332	broad.mit.edu	37	12	7647955	7647955	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:7647955C>T	ENST00000359156.4	-	6	1344	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	CD163_ENST00000432237.2_Missense_Mutation_p.R381H|CD163_ENST00000396620.3_Missense_Mutation_p.R381H|CD163_ENST00000541972.1_Missense_Mutation_p.R369H	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	381	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.R381H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CCCAGCACAGCGGCTGCCTCC	0.493																																					p.R381H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1142A	12						.						119.0	109.0	112.0					12																	7647955		2203	4300	6503	7539222	SO:0001583	missense	9332	exon6			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1142G>A	12.37:g.7647955C>T	ENSP00000352071:p.Arg381His		7539222	NM_203416	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.233335	0.39498	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.01	1.16	0.20824	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.391785	0.22041	N	0.065450	T	0.22742	0.0549	L	0.38531	1.155	0.23050	N	0.998377	B;B;B	0.27997	0.197;0.038;0.194	B;B;B	0.25405	0.06;0.007;0.059	T	0.13388	-1.0511	10	0.51188	T	0.08	.	4.3798	0.11288	0.0:0.488:0.1587:0.3532	.	381;381;381	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	H	381;369;381;381	ENSP00000352071:R381H;ENSP00000444071:R369H;ENSP00000379863:R381H;ENSP00000403885:R381H	ENSP00000352071:R381H	R	-	2	0	CD163	7539222	0.000000	0.05858	0.996000	0.52242	0.996000	0.88848	-0.633000	0.05483	0.391000	0.25143	0.650000	0.86243	CGC		0.493	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416	
GRIN2B	2904	broad.mit.edu	37	12	13716610	13716610	+	Missense_Mutation	SNP	C	C	T	rs367543149		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:13716610C>T	ENST00000609686.1	-	13	3771	c.3562G>A	c.(3562-3564)Ggc>Agc	p.G1188S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1188					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.G1188S(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTGACCACGCCGTGTTTGTCG	0.622																																					p.G1188S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3562A	12						.						103.0	99.0	100.0					12																	13716610		2203	4300	6503	13607877	SO:0001583	missense	2904	exon13				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3562G>A	12.37:g.13716610C>T	ENSP00000477455:p.Gly1188Ser		13607877	NM_000834	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	1.963	-0.438394	0.04636	.	.	ENSG00000150086	ENST00000279593	T	0.11821	2.74	5.03	1.88	0.25563	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.575244	0.19430	N	0.114473	T	0.09774	0.0240	L	0.36672	1.1	0.42006	D	0.990914	B	0.11235	0.004	B	0.11329	0.006	T	0.19549	-1.0302	10	0.10377	T	0.69	.	10.5547	0.45110	0.0:0.6561:0.0:0.3439	.	1188	Q13224	NMDE2_HUMAN	S	1188	ENSP00000279593:G1188S	ENSP00000279593:G1188S	G	-	1	0	GRIN2B	13607877	0.003000	0.15002	0.952000	0.39060	0.209000	0.24338	0.016000	0.13377	0.151000	0.19162	-0.140000	0.14226	GGC		0.622	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		
EPS8	2059	broad.mit.edu	37	12	15811053	15811053	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:15811053G>A	ENST00000281172.5	-	12	1497	c.1061C>T	c.(1060-1062)gCt>gTt	p.A354V	EPS8_ENST00000543523.1_Missense_Mutation_p.A354V|EPS8_ENST00000540613.1_Missense_Mutation_p.A94V|EPS8_ENST00000542903.1_Missense_Mutation_p.A94V|EPS8_ENST00000543612.1_Missense_Mutation_p.A354V	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	354					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)	p.A354V(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CAAATCTGCAGCACTAGGATT	0.348																																					p.A354V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1061T	12						.						77.0	77.0	77.0					12																	15811053		2203	4300	6503	15702320	SO:0001583	missense	2059	exon12			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1061C>T	12.37:g.15811053G>A	ENSP00000281172:p.Ala354Val		15702320	NM_004447	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	G	34	5.334115	0.95758	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.73753	0.3627	M	0.86864	2.845	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.79110	-0.1938	10	0.87932	D	0	-19.9366	18.4843	0.90823	0.0:0.0:1.0:0.0	.	354	Q12929	EPS8_HUMAN	V	354;354;354;94;94;354	ENSP00000441867:A354V;ENSP00000281172:A354V;ENSP00000442388:A354V;ENSP00000441888:A94V;ENSP00000437806:A94V	ENSP00000281172:A354V	A	-	2	0	EPS8	15702320	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.184000	0.77705	2.608000	0.88229	0.585000	0.79938	GCT		0.348	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1		
CMAS	55907	broad.mit.edu	37	12	22199484	22199484	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:22199484delG	ENST00000229329.2	+	1	377	c.247delG	c.(247-249)gggfs	p.G83fs		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	83					lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)	p.A84fs*40(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CCTGGATTCAGGGGCCTTCCA	0.716																																					p.G83fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.247delG	12						.						8.0	11.0	10.0					12																	22199484		2172	4288	6460	22090751	SO:0001589	frameshift_variant	55907	exon1			AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"""CMP-Neu5Ac synthetase"""	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.247delG	12.37:g.22199484delG	ENSP00000229329:p.Gly83fs		22090751	NM_018686	Q96AX5|Q9NQZ0	Frame_Shift_Del	DEL	ENST00000229329.2	37	CCDS8696.1																																																																																				0.716	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402235.1	NM_018686	
TM7SF3	51768	broad.mit.edu	37	12	27127081	27127081	+	Silent	SNP	C	C	T	rs372452992		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:27127081C>T	ENST00000343028.4	-	12	1755	c.1530G>A	c.(1528-1530)ccG>ccA	p.P510P	RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	510						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P510P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					GAGGGAAGAACGGTCGTCCTC	0.468																																					p.P510P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1530A	12						.	C		0,4406		0,0,2203	116.0	104.0	108.0		1530	-11.2	0.0	12		108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TM7SF3	NM_016551.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		510/571	27127081	1,13005	2203	4300	6503	27018348	SO:0001819	synonymous_variant	51768	exon12			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.1530G>A	12.37:g.27127081C>T			27018348	NM_016551	B3KMZ3|Q9NUS4	Silent	SNP	ENST00000343028.4	37	CCDS8710.1																																																																																				0.468	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551	
DNM1L	10059	broad.mit.edu	37	12	32893061	32893061	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:32893061G>T	ENST00000549701.1	+	17	1845	c.1771G>T	c.(1771-1773)Gga>Tga	p.G591*	DNM1L_ENST00000358214.5_Nonsense_Mutation_p.G567*|DNM1L_ENST00000266481.6_Nonsense_Mutation_p.G554*|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000381000.4_Nonsense_Mutation_p.G593*|DNM1L_ENST00000547312.1_Nonsense_Mutation_p.G580*|DNM1L_ENST00000553257.1_Nonsense_Mutation_p.G604*|DNM1L_ENST00000452533.2_Nonsense_Mutation_p.G565*|DNM1L_ENST00000414834.2_Nonsense_Mutation_p.G388*			O00429	DNM1L_HUMAN	dynamin 1-like	591	Interaction with GSK3B.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.G591*(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CAACTGGAGAGGAATGCTGAA	0.433																																					p.G591X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1771T	12						.						147.0	141.0	143.0					12																	32893061		2203	4300	6503	32784328	SO:0001587	stop_gained	10059	exon17			AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1771G>T	12.37:g.32893061G>T	ENSP00000450399:p.Gly591*		32784328	NM_012062	A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Nonsense_Mutation	SNP	ENST00000549701.1	37	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	G	40	8.493125	0.98836	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	565;646;554;604;591;567;554;580;388;593	.	ENSP00000266479:G554X	G	+	1	0	DNM1L	32784328	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.070000	0.76763	2.941000	0.99782	0.655000	0.94253	GGA		0.433	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062	
LRRK2	120892	broad.mit.edu	37	12	40618961	40618961	+	Missense_Mutation	SNP	G	G	A	rs281865040		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:40618961G>A	ENST00000298910.7	+	1	86	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	AC079630.4_ENST00000412812.1_RNA|LRRK2_ENST00000343742.2_Missense_Mutation_p.E10K	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	10					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.E10K(4)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCAGGGGTGCGAAGAGGACGA	0.582																																					p.E10K												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.G28A	12	GRCh37	CM074927	LRRK2	M		.						48.0	50.0	50.0					12																	40618961		2203	4300	6503	38905228	SO:0001583	missense	120892	exon1			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.28G>A	12.37:g.40618961G>A	ENSP00000298910:p.Glu10Lys		38905228	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818247	0.50633	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.48522	0.81;0.81	5.08	3.1	0.35709	.	0.851940	0.10623	N	0.653175	T	0.34600	0.0903	N	0.25647	0.755	0.19575	N	0.999966	P	0.40144	0.704	B	0.34385	0.181	T	0.16778	-1.0391	10	0.66056	D	0.02	.	12.4385	0.55612	0.0:0.3231:0.6769:0.0	.	10	Q5S007	LRRK2_HUMAN	K	10	ENSP00000341930:E10K;ENSP00000298910:E10K	ENSP00000298910:E10K	E	+	1	0	LRRK2	38905228	1.000000	0.71417	0.845000	0.33349	0.940000	0.58332	1.803000	0.38863	1.117000	0.41842	0.561000	0.74099	GAA		0.582	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
ADAMTS20	80070	broad.mit.edu	37	12	43777663	43777663	+	Nonsense_Mutation	SNP	G	G	A	rs186549011		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:43777663G>A	ENST00000389420.3	-	30	4569	c.4570C>T	c.(4570-4572)Cga>Tga	p.R1524*		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1524	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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.R1524*(1)		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)		CTCCAACATCGCCTCTGAGAA	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		19315	0.0		0.001	False		,,,				2504	0.0				p.R1524X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4570T	12						.						170.0	139.0	150.0					12																	43777663		2203	4300	6503	42063930	SO:0001587	stop_gained	80070	exon30			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.4570C>T	12.37:g.43777663G>A	ENSP00000374071:p.Arg1524*		42063930	NM_025003	A6NNC9|J3QT00	Nonsense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	42	9.566744	0.99207	.	.	ENSG00000173157	ENST00000389420	.	.	.	4.25	3.35	0.38373	.	0.866937	0.09654	N	0.773301	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	15.0706	0.72034	0.0:0.1431:0.8569:0.0	.	.	.	.	X	1524	.	ENSP00000374071:R1524X	R	-	1	2	ADAMTS20	42063930	0.196000	0.23350	0.141000	0.22245	0.851000	0.48451	2.777000	0.47717	1.361000	0.45981	0.655000	0.94253	CGA		0.473	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
ARID2	196528	broad.mit.edu	37	12	46230604	46230604	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:46230604C>T	ENST00000334344.6	+	8	1025	c.853C>T	c.(853-855)Cgg>Tgg	p.R285W	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.R136W|ARID2_ENST00000444670.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	285					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R285W(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGAAGGACAGCGGGTACTTCA	0.403			"""N, S, F"""		hepatocellular carcinoma																																p.R285W			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C853T	12						.						153.0	150.0	151.0					12																	46230604		2203	4300	6503	44516871	SO:0001583	missense	196528	exon8				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.853C>T	12.37:g.46230604C>T	ENSP00000335044:p.Arg285Trp		44516871	NM_152641	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982484	0.93044	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	T;T	0.49139	0.79;0.79	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.71434	0.3339	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72808	-0.4181	10	0.87932	D	0	-12.5418	20.2009	0.98259	0.0:1.0:0.0:0.0	.	285	Q68CP9	ARID2_HUMAN	W	285;136	ENSP00000335044:R285W;ENSP00000415650:R136W	ENSP00000335044:R285W	R	+	1	2	ARID2	44516871	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.935000	0.70145	2.767000	0.95098	0.591000	0.81541	CGG		0.403	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	
HDAC7	51564	broad.mit.edu	37	12	48192379	48192379	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:48192379C>T	ENST00000427332.2	-	4	354	c.198G>A	c.(196-198)ctG>ctA	p.L66L	HDAC7_ENST00000354334.3_Silent_p.L105L|HDAC7_ENST00000552960.1_Silent_p.L88L|HDAC7_ENST00000380610.4_Silent_p.L122L|HDAC7_ENST00000080059.7_Silent_p.L105L			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	66	Interaction with MEF2A. {ECO:0000250}.|Interaction with MEF2C. {ECO:0000250}.|Transcription repression 1. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)	p.L66L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GAAGCTGCCGCAGCTCTTGTT	0.657																																					p.L105L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G315A	12						.						78.0	58.0	65.0					12																	48192379		2203	4300	6503	46478646	SO:0001819	synonymous_variant	51564	exon4			AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.198G>A	12.37:g.48192379C>T			46478646	NM_001098416	B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Silent	SNP	ENST00000427332.2	37																																																																																					0.657	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2		
COL2A1	1280	broad.mit.edu	37	12	48380211	48380211	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:48380211delG	ENST00000380518.3	-	23	1599	c.1435delC	c.(1435-1437)cagfs	p.Q479fs	COL2A1_ENST00000337299.6_Frame_Shift_Del_p.Q410fs|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	479	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.Q479fs*150(1)|p.Q410fs*150(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGGGCTCCCTGGGGGCCAGCA	0.607																																					p.Q410fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.1228delC	12						.						6.0	8.0	7.0					12																	48380211		2140	4192	6332	46666478	SO:0001589	frameshift_variant	1280	exon22			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1435delC	12.37:g.48380211delG	ENSP00000369889:p.Gln479fs		46666478	NM_033150	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Frame_Shift_Del	DEL	ENST00000380518.3	37	CCDS41778.1																																																																																				0.607	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844	
CACNB3	784	broad.mit.edu	37	12	49220217	49220217	+	Silent	SNP	C	C	T	rs200554890		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:49220217C>T	ENST00000301050.2	+	10	1009	c.810C>T	c.(808-810)gaC>gaT	p.D270D	CACNB3_ENST00000536187.2_Silent_p.D269D|CACNB3_ENST00000540990.1_Silent_p.D257D|CACNB3_ENST00000547230.1_Silent_p.D229D|CACNB3_ENST00000547392.1_Silent_p.D243D	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	270					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.D270D(1)		autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TAGTGTTGGACGCTGACACCA	0.567																																					p.D270D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C810T	12						.						97.0	81.0	87.0					12																	49220217		2203	4300	6503	47506484	SO:0001819	synonymous_variant	784	exon10				CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"""Calcium channel subunits"""	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.810C>T	12.37:g.49220217C>T			47506484	NM_000725	A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Silent	SNP	ENST00000301050.2	37	CCDS8769.1																																																																																				0.567	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1		
WNT1	7471	broad.mit.edu	37	12	49374348	49374348	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:49374348delG	ENST00000293549.3	+	3	536	c.500delG	c.(499-501)tggfs	p.W167fs		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	167					bone development (GO:0060348)|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)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)	p.G169fs*30(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		gACTGGCACTGGGGGGGCTGC	0.682																																					p.W167fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.500delG	12						.						9.0	11.0	11.0					12																	49374348		2195	4281	6476	47660615	SO:0001589	frameshift_variant	7471	exon3			X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.500delG	12.37:g.49374348delG	ENSP00000293549:p.Trp167fs		47660615	NM_005430	Q5U0N2	Frame_Shift_Del	DEL	ENST00000293549.3	37	CCDS8776.1																																																																																				0.682	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1		
KMT2D	8085	broad.mit.edu	37	12	49432271	49432271	+	Silent	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:49432271G>T	ENST00000301067.7	-	34	8867	c.8868C>A	c.(8866-8868)acC>acA	p.T2956T	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2956	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.T2686T(1)									CAGTTGGCAGGGTAGGACCCT	0.622																																					p.T2956T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8868A	12						.						76.0	82.0	80.0					12																	49432271		1912	4122	6034	47718538	SO:0001819	synonymous_variant	8085	exon34			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8868C>A	12.37:g.49432271G>T			47718538	NM_003482	O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																				0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
KMT2D	8085	broad.mit.edu	37	12	49433600	49433600	+	Silent	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:49433600T>C	ENST00000301067.7	-	31	7952	c.7953A>G	c.(7951-7953)ggA>ggG	p.G2651G	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2651					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G2381G(1)									AGCTACCCATTCCAGTCCCTG	0.592																																					p.G2651G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A7953G	12						.						54.0	57.0	56.0					12																	49433600		2015	4176	6191	47719867	SO:0001819	synonymous_variant	8085	exon31			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7953A>G	12.37:g.49433600T>C			47719867	NM_003482	O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																				0.592	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
KMT2D	8085	broad.mit.edu	37	12	49445873	49445873	+	Silent	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:49445873T>C	ENST00000301067.7	-	10	1592	c.1593A>G	c.(1591-1593)gcA>gcG	p.A531A		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	531	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A531A(1)									GCGTCTCAAGTGCAGGAGATG	0.577																																					p.A531A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1593G	12						.						60.0	67.0	65.0					12																	49445873		2073	4196	6269	47732140	SO:0001819	synonymous_variant	8085	exon10			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1593A>G	12.37:g.49445873T>C			47732140	NM_003482	O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																				0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
SPATS2	65244	broad.mit.edu	37	12	49888628	49888628	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:49888628C>T	ENST00000553127.1	+	8	882	c.369C>T	c.(367-369)tcC>tcT	p.S123S	SPATS2_ENST00000552557.1_3'UTR|SPATS2_ENST00000552918.1_Silent_p.S123S|SPATS2_ENST00000321898.6_Silent_p.S123S			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	123						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.S123S(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CTGCGCCTTCCTCAGAGAAAG	0.453																																					p.S123S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C369T	12						.						71.0	61.0	65.0					12																	49888628		2203	4300	6503	48174895	SO:0001819	synonymous_variant	65244	exon7			AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.369C>T	12.37:g.49888628C>T			48174895	NM_023071	A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Silent	SNP	ENST00000553127.1	37	CCDS31794.1																																																																																				0.453	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071	
NCKAP5L	57701	broad.mit.edu	37	12	50189330	50189330	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:50189330G>A	ENST00000335999.6	-	8	2514	c.2313C>T	c.(2311-2313)tgC>tgT	p.C771C		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	767								p.C771C(1)|p.C362C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CTTTGGTGAGGCAGCTCCTTG	0.667																																					p.C771C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2313T	12						.						23.0	26.0	25.0					12																	50189330		1917	4106	6023	48475597	SO:0001819	synonymous_variant	57701	exon8			AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.2313C>T	12.37:g.50189330G>A			48475597	NM_001037806	Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Silent	SNP	ENST00000335999.6	37	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	G	6.065	0.380295	0.11466	.	.	ENSG00000167566	ENST00000433948	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	T	0.58192	0.2105	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55192	-0.8179	4	.	.	.	-12.8548	8.5919	0.33693	0.1036:0.0:0.8964:0.0	.	.	.	.	S	486	.	.	P	-	1	0	NCKAP5L	48475597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.320000	0.43797	2.483000	0.83821	0.561000	0.74099	CCT		0.667	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497	
FAIM2	23017	broad.mit.edu	37	12	50294951	50294951	+	Missense_Mutation	SNP	G	G	A	rs145638550		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:50294951G>A	ENST00000320634.3	-	2	267	c.173C>T	c.(172-174)gCg>gTg	p.A58V	FAIM2_ENST00000550890.1_Missense_Mutation_p.A12V	NM_012306.3	NP_036438.2	Q9BWQ8	LFG2_HUMAN	Fas apoptotic inhibitory molecule 2	58					apoptotic process (GO:0006915)|cerebellar granular layer development (GO:0021681)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum development (GO:0021549)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of neuron apoptotic process (GO:0043523)|response to ischemia (GO:0002931)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|postsynaptic membrane (GO:0045211)		p.A58V(1)		endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						GAGAGGCACCGCTGTGGGGGC	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17122	0.0		0.0	False		,,,				2504	0.0				p.A58V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C173T	12						.	G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	21.0	22.0	22.0		173	5.3	1.0	12	dbSNP_134	22	0,8600		0,0,4300	no	missense	FAIM2	NM_012306.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	58/317	50294951	1,13005	2203	4300	6503	48581218	SO:0001583	missense	23017	exon2			AB023167	CCDS8791.1	12q13	2010-03-18				ENSG00000135472			17067	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 2"""	604306				10231032, 10535980	Standard	NM_012306		Approved	KIAA0950, LFG, NMP35, LIFEGUARD, TMBIM2, LFG2	uc001rvj.2	Q9BWQ8	OTTHUMG00000169808	ENST00000320634.3:c.173C>T	12.37:g.50294951G>A	ENSP00000321951:p.Ala58Val		48581218	NM_012306	A8K1W6|B3KR08|Q9UJY9|Q9Y2F7	Missense_Mutation	SNP	ENST00000320634.3	37	CCDS8791.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612171	0.28712	2.27E-4	0.0	ENSG00000135472	ENST00000320634;ENST00000550890;ENST00000550635;ENST00000547871	T;T	0.44482	1.42;0.92	5.31	5.31	0.75309	.	0.403237	0.24198	N	0.040644	T	0.21718	0.0523	N	0.11927	0.2	0.30996	N	0.720894	P	0.41131	0.739	B	0.28553	0.091	T	0.14811	-1.0459	10	0.33141	T	0.24	-5.4694	14.4843	0.67606	0.0:0.0:1.0:0.0	.	58	Q9BWQ8	FAIM2_HUMAN	V	58;12;58;12	ENSP00000321951:A58V;ENSP00000450132:A12V	ENSP00000321951:A58V	A	-	2	0	FAIM2	48581218	0.499000	0.26083	0.963000	0.40424	0.029000	0.11900	3.576000	0.53878	2.511000	0.84671	0.561000	0.74099	GCG		0.632	FAIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405984.1	NM_012306	
GPD1	2819	broad.mit.edu	37	12	50499454	50499454	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:50499454G>T	ENST00000301149.3	+	3	575	c.343G>T	c.(343-345)Ggc>Tgc	p.G115C	GPD1_ENST00000548814.1_Missense_Mutation_p.G92C|GPD1_ENST00000547190.1_3'UTR	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	115					cellular lipid metabolic process (GO:0044255)|cellular response to cAMP (GO:0071320)|cellular response to tumor necrosis factor (GO:0071356)|gluconeogenesis (GO:0006094)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophosphate shuttle (GO:0006127)|glycerophospholipid biosynthetic process (GO:0046474)|NADH oxidation (GO:0006116)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrion (GO:0005739)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|NAD binding (GO:0051287)	p.G115C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						AAACGCCACTGGCATATCTCT	0.552																																					p.G115C	NSCLC(141;1402 1905 9497 13391 44868)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G343T	12						.						63.0	53.0	56.0					12																	50499454		2203	4300	6503	48785721	SO:0001583	missense	2819	exon3				CCDS8799.1, CCDS58229.1	12q13.12	2013-09-20			ENSG00000167588	ENSG00000167588	1.1.1.8		4455	protein-coding gene	gene with protein product		138420					Standard	NM_005276		Approved		uc001rvz.4	P21695	OTTHUMG00000169813	ENST00000301149.3:c.343G>T	12.37:g.50499454G>T	ENSP00000301149:p.Gly115Cys		48785721	NM_005276	F8W1L5|Q8N1B0	Missense_Mutation	SNP	ENST00000301149.3	37	CCDS8799.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515196	0.85389	.	.	ENSG00000167588	ENST00000301149;ENST00000547190;ENST00000548814	T;T	0.51574	0.7;0.7	5.39	5.39	0.77823	Glycerol-3-phosphate dehydrogenase, NAD-dependent, N-terminal (1);NAD(P)-binding domain (1);	0.105167	0.64402	D	0.000004	T	0.77572	0.4150	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.97;1.0	T	0.82904	-0.0226	10	0.87932	D	0	-16.5369	19.5447	0.95287	0.0:0.0:1.0:0.0	.	115;92;115	B4DJ37;F8W1L5;P21695	.;.;GPDA_HUMAN	C	115;115;92	ENSP00000301149:G115C;ENSP00000446768:G92C	ENSP00000301149:G115C	G	+	1	0	GPD1	48785721	1.000000	0.71417	0.992000	0.48379	0.792000	0.44763	9.807000	0.99171	2.709000	0.92574	0.561000	0.74099	GGC		0.552	GPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406018.1		
ACVR1B	91	broad.mit.edu	37	12	52385731	52385731	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:52385731A>T	ENST00000257963.4	+	8	1423	c.1346A>T	c.(1345-1347)gAt>gTt	p.D449V	ACVR1B_ENST00000541224.1_Missense_Mutation_p.D490V|ACVR1B_ENST00000542485.1_Missense_Mutation_p.D397V|ACVR1B_ENST00000426655.2_Missense_Mutation_p.D449V|ACVR1B_ENST00000563121.1_3'UTR	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	449	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)	p.D490V(1)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GTTGTATGTGATCAGAAGCTG	0.493																																					p.D397V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1190T	12						.						168.0	146.0	154.0					12																	52385731		2203	4300	6503	50671998	SO:0001583	missense	91	exon8				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1346A>T	12.37:g.52385731A>T	ENSP00000257963:p.Asp449Val		50671998	NM_020327	B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	A	6.387	0.439602	0.12104	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000542485	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	4.05	4.05	0.47172	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.099697	0.64402	D	0.000003	T	0.34919	0.0914	N	0.03268	-0.37	0.80722	D	1	B;B;B	0.16603	0.013;0.018;0.018	B;B;B	0.24006	0.022;0.05;0.022	T	0.33059	-0.9883	10	0.02654	T	1	.	14.0635	0.64815	1.0:0.0:0.0:0.0	.	490;449;449	P36896-4;P36896;P36896-2	.;ACV1B_HUMAN;.	V	449;490;449;397	ENSP00000257963:D449V;ENSP00000442656:D490V;ENSP00000390477:D449V;ENSP00000442885:D397V	ENSP00000257963:D449V	D	+	2	0	ACVR1B	50671998	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.044000	0.93805	2.059000	0.61396	0.379000	0.24179	GAT		0.493	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328	
MFSD5	84975	broad.mit.edu	37	12	53647841	53647841	+	Missense_Mutation	SNP	A	A	G	rs371060411		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:53647841A>G	ENST00000329548.4	+	2	1413	c.1222A>G	c.(1222-1224)Atg>Gtg	p.M408V	MFSD5_ENST00000534842.1_Missense_Mutation_p.M515V	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	408					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.M408V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CACTCGGAATATGTTCAGCAT	0.552																																					p.M408V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1222G	12						.	A	VAL/MET,VAL/MET	0,4406		0,0,2203	156.0	131.0	140.0		1543,1222	2.9	1.0	12		140	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MFSD5	NM_001170790.1,NM_032889.4	21,21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	515/558,408/451	53647841	1,13005	2203	4300	6503	51934108	SO:0001583	missense	84975	exon2			AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.1222A>G	12.37:g.53647841A>G	ENSP00000332624:p.Met408Val		51934108	NM_032889	G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Missense_Mutation	SNP	ENST00000329548.4	37	CCDS8851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.274|5.274	0.236024|0.236024	0.10023|0.10023	0.0|0.0	1.16E-4|1.16E-4	ENSG00000182544|ENSG00000182544	ENST00000328704|ENST00000551660;ENST00000534842;ENST00000329548	.|T;T	.|0.78816	.|-1.21;-1.21	5.28|5.28	2.87|2.87	0.33458|0.33458	.|Major facilitator superfamily domain, general substrate transporter (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65554|0.65554	0.2702|0.2702	L|L	0.56769|0.56769	1.78|1.78	0.45837|0.45837	D|D	0.998706|0.998706	.|B;B	.|0.22346	.|0.068;0.028	.|B;B	.|0.18871	.|0.023;0.013	T|T	0.53760|0.53760	-0.8393|-0.8393	6|10	0.56958|0.02654	D|T	0.05|1	-17.3758|-17.3758	7.259|7.259	0.26193|0.26193	0.776:0.1463:0.0777:0.0|0.776:0.1463:0.0777:0.0	.|.	.|408;515	.|Q6N075;G3V1N7	.|MFSD5_HUMAN;.	M|V	423|422;515;408	.|ENSP00000442688:M515V;ENSP00000332624:M408V	ENSP00000331231:I423M|ENSP00000332624:M408V	I|M	+|+	3|1	3|0	MFSD5|MFSD5	51934108|51934108	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.220000|0.220000	0.24768|0.24768	5.530000|5.530000	0.67141|0.67141	0.312000|0.312000	0.23038|0.23038	-0.466000|-0.466000	0.05196|0.05196	ATA|ATG		0.552	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1	NM_032889	
AAAS	8086	broad.mit.edu	37	12	53701367	53701367	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:53701367G>A	ENST00000209873.4	-	16	1712	c.1547C>T	c.(1546-1548)cCc>cTc	p.P516L	AAAS_ENST00000550286.1_Missense_Mutation_p.P392L|AAAS_ENST00000394384.3_Missense_Mutation_p.P483L|AAAS_ENST00000549983.1_5'Flank	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	516					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)		p.P516L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						AGTAAAGAGGGGCAGGTCATG	0.592																																					p.P483L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1448T	12						.						60.0	67.0	65.0					12																	53701367		2203	4300	6503	51987634	SO:0001583	missense	8086	exon15			AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.1547C>T	12.37:g.53701367G>A	ENSP00000209873:p.Pro516Leu		51987634	NM_001173466	Q5JB47|Q9NWI6|Q9UG19	Missense_Mutation	SNP	ENST00000209873.4	37	CCDS8856.1	.	.	.	.	.	.	.	.	.	.	G	6.741	0.505606	0.12822	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000550286	D;D;D	0.84660	-1.88;-1.71;-1.87	4.69	4.69	0.59074	.	0.292871	0.34507	N	0.003908	T	0.74291	0.3697	N	0.14661	0.345	0.51767	D	0.999935	B;B	0.15141	0.012;0.012	B;B	0.18871	0.015;0.023	T	0.71119	-0.4685	10	0.51188	T	0.08	-17.33	13.3376	0.60526	0.0:0.0:1.0:0.0	.	483;516	Q5JB47;Q9NRG9	.;AAAS_HUMAN	L	516;483;392	ENSP00000209873:P516L;ENSP00000377908:P483L;ENSP00000446885:P392L	ENSP00000209873:P516L	P	-	2	0	AAAS	51987634	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	4.006000	0.57083	2.610000	0.88304	0.655000	0.94253	CCC		0.592	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1		
NPFF	8620	broad.mit.edu	37	12	53898958	53898958	+	IGR	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:53898958C>T	ENST00000267017.3	-	0	592				TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000394357.2_Missense_Mutation_p.A197V|TARBP2_ENST00000456234.2_Missense_Mutation_p.A197V|TARBP2_ENST00000266987.2_Missense_Mutation_p.A218V	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)	p.A218V(1)		haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						CGGAATGCGGCGGCCAAAATG	0.567																																					p.A197V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C590T	12						.						127.0	116.0	120.0					12																	53898958		2203	4300	6503	52185225	SO:0001628	intergenic_variant	6895	exon7			AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53898958C>T			52185225	NM_004178	Q3SXL4	Missense_Mutation	SNP	ENST00000267017.3	37	CCDS8862.1	.	.	.	.	.	.	.	.	.	.	C	34	5.339073	0.95783	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000394357	D;D;D	0.94537	-3.45;-3.45;-3.45	4.98	4.98	0.66077	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98535	0.9511	H	0.98901	4.365	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.99379	1.0922	10	0.87932	D	0	-15.0831	17.5584	0.87900	0.0:1.0:0.0:0.0	.	218	Q15633	TRBP2_HUMAN	V	218;197;197	ENSP00000266987:A218V;ENSP00000416077:A197V;ENSP00000377885:A197V	ENSP00000266987:A218V	A	+	2	0	TARBP2	52185225	0.999000	0.42202	0.900000	0.35374	0.898000	0.52572	4.281000	0.58965	2.759000	0.94783	0.561000	0.74099	GCG		0.567	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717	
CALCOCO1	57658	broad.mit.edu	37	12	54117423	54117423	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:54117423C>A	ENST00000550804.1	-	4	464	c.404G>T	c.(403-405)gGg>gTg	p.G135V	CALCOCO1_ENST00000548263.1_Missense_Mutation_p.G135V|CALCOCO1_ENST00000547885.1_5'Flank|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.G102V|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.G135V			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	135	N-terminal AD (CTNNB1 binding site). {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.G135V(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GTCAGAGCCCCCATCAGCCTC	0.572																																					p.G135V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G404T	12						.						80.0	76.0	78.0					12																	54117423		2203	4300	6503	52403690	SO:0001583	missense	57658	exon4			AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.404G>T	12.37:g.54117423C>A	ENSP00000449960:p.Gly135Val		52403690	NM_020898	B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318008	0.40996	.	.	ENSG00000012822	ENST00000430117;ENST00000262059;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000454332;ENST00000551900;ENST00000546619;ENST00000547949;ENST00000553154;ENST00000549173	T;T;T;T;T;T;T	0.10477	2.87;2.87;2.87;2.87;2.87;2.87;2.87	4.79	4.79	0.61399	.	0.151147	0.31370	N	0.007777	T	0.12603	0.0306	L	0.42744	1.35	0.09310	N	0.999997	P;B;P;P;P;P	0.48016	0.801;0.009;0.763;0.904;0.633;0.801	B;B;B;P;B;B	0.44897	0.417;0.024;0.226;0.463;0.122;0.335	T	0.12553	-1.0543	10	0.39692	T	0.17	-10.6887	12.5654	0.56306	0.0:0.7243:0.2757:0.0	.	128;102;135;135;102;135	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;E7EPK7;Q9P1Z2	.;.;.;.;.;CACO1_HUMAN	V	102;135;135;135;128;12;135;135;135;135;155	ENSP00000397189:G102V;ENSP00000262059:G135V;ENSP00000447647:G135V;ENSP00000449960:G135V;ENSP00000450083:G135V;ENSP00000448621:G135V;ENSP00000449058:G155V	ENSP00000262059:G135V	G	-	2	0	CALCOCO1	52403690	0.000000	0.05858	0.012000	0.15200	0.971000	0.66376	0.724000	0.25954	2.586000	0.87340	0.655000	0.94253	GGG		0.572	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898	
DCD	117159	broad.mit.edu	37	12	55038967	55038967	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:55038967G>A	ENST00000293371.6	-	4	468	c.279C>T	c.(277-279)agC>agT	p.S93S	DCD_ENST00000456047.2_Silent_p.S93S	NM_053283.2	NP_444513.1	P81605	DCD_HUMAN	dermcidin	93					defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)	p.S93S(1)		large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				CTTTACCCACGCTTTCTAGAT	0.507																																					p.S93S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C279T	12						.						162.0	147.0	152.0					12																	55038967		2203	4300	6503	53325234	SO:0001819	synonymous_variant	117159	exon4			AF144011	CCDS8884.1, CCDS73478.1	12q13.1	2008-08-04				ENSG00000161634			14669	protein-coding gene	gene with protein product	"""proteolysis inducing factor"", ""preproteolysin"", ""diffusible survival/evasion peptide"", ""survival promoting peptide"""	606634				11694882	Standard	XM_005268627		Approved	AIDD, PIF, DSEP, HCAP, DCD-1	uc001sgj.3	P81605	OTTHUMG00000169937	ENST00000293371.6:c.279C>T	12.37:g.55038967G>A			53325234	NM_053283	A5JHP2|A5JHP3|P58461|Q53YJ2	Silent	SNP	ENST00000293371.6	37	CCDS8884.1																																																																																				0.507	DCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406617.1	NM_053283	
TESPA1	9840	broad.mit.edu	37	12	55367299	55367299	+	Silent	SNP	A	A	G	rs201661060	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:55367299A>G	ENST00000449076.1	-	3	300	c.168T>C	c.(166-168)aaT>aaC	p.N56N	TESPA1_ENST00000531122.1_5'UTR|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000316577.8_Silent_p.N56N|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000524622.1_5'UTR	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	56					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.N56N(1)									TATTGATTGGATTCCCTAGAA	0.433																																					p.N56N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T168C	12						.						96.0	94.0	95.0					12																	55367299		1901	4129	6030	53653566	SO:0001819	synonymous_variant	9840	exon3			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.168T>C	12.37:g.55367299A>G			53653566	NM_001098815	B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Silent	SNP	ENST00000449076.1	37	CCDS44913.1																																																																																				0.433	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815	
RDH5	5959	broad.mit.edu	37	12	56115525	56115525	+	Silent	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:56115525A>G	ENST00000257895.5	+	3	515	c.363A>G	c.(361-363)acA>acG	p.T121T	RDH5_ENST00000548082.1_Silent_p.T121T|RP11-644F5.10_ENST00000549424.1_3'UTR|RDH5_ENST00000547072.1_Silent_p.T24T|RDH5_ENST00000553160.1_Intron|RP11-644F5.10_ENST00000550412.1_3'UTR	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	121					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	retinol dehydrogenase activity (GO:0004745)	p.T121T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					Vitamin A(DB00162)	TCGGACCCACACCATGGCTGA	0.587																																					p.T121T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A363G	12						.						49.0	50.0	50.0					12																	56115525		2203	4300	6503	54401792	SO:0001819	synonymous_variant	5959	exon3			U89717	CCDS31829.1	12q13-q14	2013-06-03	2006-05-09			ENSG00000135437	1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	9940	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 5"""	601617	"""retinol dehydrogenase 5 (11-cis and 9-cis)"""	RDH1		9115228, 8884265, 19027726	Standard	NM_002905		Approved	HSD17B9, SDR9C5	uc001shl.3	Q92781	OTTHUMG00000170126	ENST00000257895.5:c.363A>G	12.37:g.56115525A>G			54401792	NM_002905	O00179|Q8TAI2	Silent	SNP	ENST00000257895.5	37	CCDS31829.1																																																																																				0.587	RDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407493.1	NM_002905	
ERBB3	2065	broad.mit.edu	37	12	56492543	56492543	+	Splice_Site	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:56492543G>A	ENST00000267101.3	+	23	3133	c.2693G>A	c.(2692-2694)gGt>gAt	p.G898D	RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000553131.1_Splice_Site_p.G139D|ERBB3_ENST00000549832.1_Missense_Mutation_p.G18D|ERBB3_ENST00000415288.2_Splice_Site_p.G839D|ERBB3_ENST00000450146.2_Splice_Site_p.G255D	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	898	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.G898D(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCTGCAACAGGTGTGACAGTT	0.512																																					p.G898D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2693A	12						.						128.0	121.0	123.0					12																	56492543		2203	4300	6503	54778810	SO:0001630	splice_region_variant	2065	exon23			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2693-1G>A	12.37:g.56492543G>A			54778810	NM_001982	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	34	5.367922	0.95900	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	D	0.96793	0.8953	H	0.99130	4.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98150	1.0441	10	0.87932	D	0	.	18.9094	0.92477	0.0:0.0:1.0:0.0	.	839;18;898	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	D	898;255;839;21;139;18	ENSP00000267101:G898D;ENSP00000399178:G255D;ENSP00000408340:G839D;ENSP00000449129:G139D;ENSP00000448729:G18D	ENSP00000267101:G898D	G	+	2	0	ERBB3	54778810	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.652000	0.98499	2.779000	0.95612	0.655000	0.94253	GGT		0.512	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3		Missense_Mutation
SLC39A5	283375	broad.mit.edu	37	12	56630240	56630240	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:56630240A>G	ENST00000266980.4	+	7	1299	c.1006A>G	c.(1006-1008)Agt>Ggt	p.S336G	SLC39A5_ENST00000454355.2_Missense_Mutation_p.S336G|ANKRD52_ENST00000548241.1_5'Flank	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	336					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.S335G(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGAGAATGGCAGTGGGATGGC	0.537																																					p.S336G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1006G	12						.						131.0	130.0	130.0					12																	56630240		2203	4300	6503	54916507	SO:0001583	missense	283375	exon7				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.1006A>G	12.37:g.56630240A>G	ENSP00000266980:p.Ser336Gly		54916507	NM_001135195	B2R808|Q8N6Y3	Missense_Mutation	SNP	ENST00000266980.4	37	CCDS8912.2	.	.	.	.	.	.	.	.	.	.	A	8.605	0.887789	0.17540	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.50001	0.76;0.76	4.86	-0.577	0.11727	.	0.655558	0.14825	N	0.296240	T	0.20292	0.0488	N	0.11064	0.09	0.25742	N	0.985146	B	0.10296	0.003	B	0.14023	0.01	T	0.11891	-1.0569	10	0.23302	T	0.38	-9.439	1.7707	0.03011	0.5043:0.2417:0.0913:0.1627	.	336	Q6ZMH5	S39A5_HUMAN	G	336	ENSP00000405360:S336G;ENSP00000266980:S336G	ENSP00000266980:S336G	S	+	1	0	SLC39A5	54916507	0.756000	0.28383	0.964000	0.40570	0.668000	0.39293	0.302000	0.19192	-0.164000	0.10927	-0.250000	0.11733	AGT		0.537	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596	
TIMELESS	8914	broad.mit.edu	37	12	56817204	56817204	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:56817204G>A	ENST00000553532.1	-	18	2296	c.2146C>T	c.(2146-2148)Cag>Tag	p.Q716*	TIMELESS_ENST00000229201.4_Nonsense_Mutation_p.Q715*|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock									p.Q716*(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCACTATTCTGCTGGTAGCTC	0.493																																					p.Q716X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2146T	12						.						151.0	132.0	139.0					12																	56817204		2203	4300	6503	55103471	SO:0001587	stop_gained	8914	exon18			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2146C>T	12.37:g.56817204G>A	ENSP00000450607:p.Gln716*		55103471	NM_003920		Nonsense_Mutation	SNP	ENST00000553532.1	37	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	G	35	5.502400	0.96371	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	.	.	.	5.61	4.67	0.58626	.	0.313649	0.35151	N	0.003402	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-8.6648	15.5208	0.75866	0.0:0.0:0.8618:0.1382	.	.	.	.	X	715;716	.	ENSP00000229201:Q716X	Q	-	1	0	TIMELESS	55103471	0.992000	0.36948	0.917000	0.36280	0.023000	0.10783	3.034000	0.49751	2.815000	0.96918	0.561000	0.74099	CAG		0.493	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920	
BAZ2A	11176	broad.mit.edu	37	12	56992791	56992791	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:56992791T>C	ENST00000551812.1	-	28	5606	c.5413A>G	c.(5413-5415)Atc>Gtc	p.I1805V	BAZ2A_ENST00000549884.1_Missense_Mutation_p.I1803V|BAZ2A_ENST00000179765.5_Missense_Mutation_p.I1773V|BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000379441.3_Missense_Mutation_p.I1775V	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1805					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.I1805V(2)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCCATCAGGATAATCCTATCA	0.517																																					p.I1805V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A5413G	12						.						27.0	28.0	28.0					12																	56992791		1981	4166	6147	55279058	SO:0001583	missense	11176	exon28			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.5413A>G	12.37:g.56992791T>C	ENSP00000446880:p.Ile1805Val		55279058	NM_013449	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.672640	0.67928	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29	5.85	5.85	0.93711	Bromodomain (4);	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	L	0.52573	1.65	0.58432	D	0.999999	P;B;B;P	0.49447	0.453;0.226;0.451;0.924	P;P;P;D	0.75020	0.878;0.583;0.708;0.985	T	0.54970	-0.8213	10	0.62326	D	0.03	-17.0123	15.5289	0.75936	0.0:0.0:0.0:1.0	.	1803;1801;1805;1778	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	V	1775;1773;1805;737;1803	ENSP00000368754:I1775V;ENSP00000179765:I1773V;ENSP00000446880:I1805V;ENSP00000448760:I737V;ENSP00000447941:I1803V	ENSP00000179765:I1773V	I	-	1	0	BAZ2A	55279058	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.403000	0.79983	2.371000	0.80710	0.533000	0.62120	ATC		0.517	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449	
NACA	4666	broad.mit.edu	37	12	57113135	57113135	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:57113135C>A	ENST00000454682.1	-	3	2460	c.2179G>T	c.(2179-2181)Gcc>Tcc	p.A727S	NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	727	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A727S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ATTTCAGGGGCCAGCACTAAG	0.502			T	BCL6	NHL																																p.A727S			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2179T	12						.						27.0	26.0	26.0					12																	57113135		1568	3582	5150	55399402	SO:0001583	missense	4666	exon3			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.2179G>T	12.37:g.57113135C>A	ENSP00000403817:p.Ala727Ser		55399402	NM_001113203		Missense_Mutation	SNP	ENST00000454682.1	37		.	.	.	.	.	.	.	.	.	.	C	11.12	1.546645	0.27652	.	.	ENSG00000196531	ENST00000454682	T	0.48836	0.8	3.0	-1.18	0.09617	.	.	.	.	.	T	0.26159	0.0638	.	.	.	0.09310	N	1	B	0.21225	0.053	B	0.15052	0.012	T	0.19386	-1.0307	7	.	.	.	.	5.7984	0.18399	0.1943:0.4209:0.3848:0.0	.	727	E9PAV3	.	S	727	ENSP00000403817:A727S	.	A	-	1	0	NACA	55399402	0.000000	0.05858	0.075000	0.20258	0.633000	0.38033	-0.425000	0.07017	-0.092000	0.12417	0.449000	0.29647	GCC		0.502	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594	
LRP1	4035	broad.mit.edu	37	12	57601929	57601929	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:57601929G>A	ENST00000243077.3	+	77	12434	c.11968G>A	c.(11968-11970)Gag>Aag	p.E3990K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3990					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.E3990K(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GATGAAGGGCGAGAACCGCAA	0.642																																					p.E3990K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11968A	12						.						83.0	71.0	75.0					12																	57601929		2203	4300	6503	55888196	SO:0001583	missense	4035	exon77			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11968G>A	12.37:g.57601929G>A	ENSP00000243077:p.Glu3990Lys		55888196	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014100	0.35511	.	.	ENSG00000123384	ENST00000243077	D	0.93859	-3.3	4.6	4.6	0.57074	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.300615	0.28796	N	0.014114	T	0.74642	0.3743	N	0.00771	-1.2	0.80722	D	1	P	0.44006	0.824	B	0.31442	0.13	T	0.82542	-0.0405	10	0.06236	T	0.91	.	16.7144	0.85394	0.0:0.0:1.0:0.0	.	3990	Q07954	LRP1_HUMAN	K	3990	ENSP00000243077:E3990K	ENSP00000243077:E3990K	E	+	1	0	LRP1	55888196	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.059000	0.57470	2.543000	0.85770	0.655000	0.94253	GAG		0.642	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
OS9	10956	broad.mit.edu	37	12	58110252	58110252	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:58110252A>T	ENST00000315970.7	+	8	991	c.950A>T	c.(949-951)gAg>gTg	p.E317V	OS9_ENST00000389142.5_Missense_Mutation_p.E317V|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000552285.1_Missense_Mutation_p.E317V|OS9_ENST00000551035.1_Missense_Mutation_p.E285V|OS9_ENST00000389146.6_Missense_Mutation_p.E317V|OS9_ENST00000413095.2_Intron|OS9_ENST00000257966.8_Missense_Mutation_p.E318V|OS9_ENST00000439210.2_Missense_Mutation_p.E258V|OS9_ENST00000435406.2_Missense_Mutation_p.E265V	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	317					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)	p.E317V(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			ATGCTTAATGAGCCAGAGGAC	0.602																																					p.E317V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A950T	12						.						37.0	30.0	32.0					12																	58110252		2202	4299	6501	56396519	SO:0001583	missense	10956	exon8			AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.950A>T	12.37:g.58110252A>T	ENSP00000318165:p.Glu317Val		56396519	NM_001017958	A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	ENST00000315970.7	37	CCDS31843.1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.199269	0.58126	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	4.25	3.06	0.35304	.	0.325926	0.31636	N	0.007307	T	0.46014	0.1371	L	0.32530	0.975	0.34183	D	0.671181	D;D;P;D;P;P;D	0.63880	0.993;0.989;0.846;0.993;0.761;0.761;0.977	D;D;P;D;B;B;P	0.75020	0.977;0.985;0.533;0.977;0.332;0.332;0.634	T	0.54609	-0.8268	10	0.39692	T	0.17	.	5.9311	0.19140	0.7889:0.0:0.2111:0.0	.	258;285;318;317;317;317;317	E7EW91;F8VUH2;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;OS9_HUMAN	V	317;317;258;317;285;318;265;317	ENSP00000450010:E317V;ENSP00000318165:E317V;ENSP00000407360:E258V;ENSP00000373798:E317V;ENSP00000447866:E285V;ENSP00000257966:E318V;ENSP00000389632:E265V;ENSP00000373794:E317V	ENSP00000257966:E318V	E	+	2	0	OS9	56396519	0.993000	0.37304	0.995000	0.50966	0.926000	0.56050	1.950000	0.40323	0.648000	0.30732	0.482000	0.46254	GAG		0.602	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812	
AVPR1A	552	broad.mit.edu	37	12	63543865	63543865	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:63543865G>A	ENST00000299178.2	-	1	857	c.752C>T	c.(751-753)aCg>aTg	p.T251M		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	251					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.T251M(1)|p.T251K(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GCGCGACGCCGTCTTCCCGCG	0.617																																					p.T251M												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C752T	12						.						94.0	95.0	94.0					12																	63543865		2203	4300	6503	61830132	SO:0001583	missense	552	exon1			L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.752C>T	12.37:g.63543865G>A	ENSP00000299178:p.Thr251Met		61830132	NM_000706		Missense_Mutation	SNP	ENST00000299178.2	37	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043035	0.75732	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.72725	-0.68;-0.68	5.29	5.29	0.74685	GPCR, rhodopsin-like superfamily (1);	0.100994	0.64402	D	0.000003	D	0.84701	0.5530	M	0.86805	2.84	0.49130	D	0.999751	D	0.61080	0.989	P	0.60473	0.875	D	0.86811	0.1998	9	.	.	.	-20.7442	17.509	0.87755	0.0:0.0:1.0:0.0	.	251	P37288	V1AR_HUMAN	M	32;251	ENSP00000449822:T32M;ENSP00000299178:T251M	.	T	-	2	0	AVPR1A	61830132	0.995000	0.38212	0.779000	0.31741	0.916000	0.54674	2.216000	0.42871	2.464000	0.83262	0.455000	0.32223	ACG		0.617	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1		
SRGAP1	57522	broad.mit.edu	37	12	64521867	64521867	+	Missense_Mutation	SNP	C	C	T	rs200877785		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:64521867C>T	ENST00000355086.3	+	21	3291	c.2767C>T	c.(2767-2769)Cgg>Tgg	p.R923W	SRGAP1_ENST00000543397.1_Missense_Mutation_p.R860W|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R900W	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	923					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.R923W(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAACATCAGCCGGCACGACTC	0.612													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15074	0.0		0.0	False		,,,				2504	0.0				p.R923W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2767T	12						.						51.0	47.0	49.0					12																	64521867		2203	4300	6503	62808134	SO:0001583	missense	57522	exon21			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.2767C>T	12.37:g.64521867C>T	ENSP00000347198:p.Arg923Trp		62808134	NM_020762	Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	CCDS8967.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	20.3	3.965229	0.74131	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.23147	2.87;2.5;1.92	5.65	3.67	0.42095	.	0.000000	0.32244	U	0.006376	T	0.46229	0.1382	M	0.62723	1.935	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.986	T	0.41324	-0.9515	9	.	.	.	.	13.5624	0.61797	0.4348:0.5652:0.0:0.0	.	923;860	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	W	923;900;860	ENSP00000347198:R923W;ENSP00000350480:R900W;ENSP00000437948:R860W	.	R	+	1	2	SRGAP1	62808134	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	2.249000	0.43169	1.464000	0.47987	0.650000	0.86243	CGG		0.612	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1		
MSRB3	253827	broad.mit.edu	37	12	65672638	65672638	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:65672638G>A	ENST00000355192.3	+	1	216	c.90G>A	c.(88-90)gcG>gcA	p.A30A	RP11-305O6.3_ENST00000545709.1_RNA|MSRB3_ENST00000538725.1_3'UTR|MSRB3_ENST00000308259.5_5'UTR|MSRB3_ENST00000540804.1_Silent_p.A30A|MSRB3_ENST00000535664.1_5'UTR	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	30					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)	p.A30A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		TGGGAAGTGCGCAGTCCGGTA	0.706																																					p.A30A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G90A	12						.						21.0	19.0	20.0					12																	65672638		2135	4206	6341	63958905	SO:0001819	synonymous_variant	253827	exon1			BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"""deafness, autosomal recessive 74"""	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.90G>A	12.37:g.65672638G>A			63958905	NM_198080	B4DR19|B7ZAQ0|Q6UXS2	Silent	SNP	ENST00000355192.3	37	CCDS8973.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091103	0.36855	.	.	ENSG00000174099	ENST00000541189	T	0.64260	-0.09	3.69	2.79	0.32731	.	349.345000	0.00166	N	0.000005	T	0.53965	0.1829	.	.	.	0.25322	N	0.989104	.	.	.	.	.	.	T	0.43278	-0.9401	6	.	.	.	.	8.5432	0.33406	0.0:0.0:0.77:0.23	.	.	.	.	T	39	ENSP00000440722:A39T	.	A	+	1	0	MSRB3	63958905	0.038000	0.19896	0.006000	0.13384	0.730000	0.41778	0.288000	0.18939	0.505000	0.28104	0.195000	0.17529	GCA		0.706	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	NM_198080	
CPSF6	11052	broad.mit.edu	37	12	69656322	69656322	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:69656322G>A	ENST00000435070.2	+	9	1749	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	CPSF6_ENST00000551516.1_Silent_p.A49A|CPSF6_ENST00000266679.8_Missense_Mutation_p.E584K|CPSF6_ENST00000456847.3_Missense_Mutation_p.E474K	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	547	Arg-rich.|Sufficient for nuclear targeting.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E547K(2)		endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			ccgagagcgCGAATATCGTCA	0.468																																					p.E547K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1639A	12						.						204.0	139.0	161.0					12																	69656322		2203	4300	6503	67942589	SO:0001583	missense	11052	exon9			X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1639G>A	12.37:g.69656322G>A	ENSP00000391774:p.Glu547Lys		67942589	NM_007007	A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511719	0.64522	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	T;T;T	0.75704	-0.96;-0.96;-0.96	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.80788	0.4690	L	0.31926	0.97	0.80722	D	1	D;D;D	0.76494	0.986;0.999;0.992	D;D;P	0.74023	0.956;0.982;0.905	T	0.77259	-0.2654	9	.	.	.	-10.8218	19.9374	0.97146	0.0:0.0:1.0:0.0	.	296;584;547	B4DSU9;Q16630-2;Q16630	.;.;CPSF6_HUMAN	K	547;474;584	ENSP00000391774:E547K;ENSP00000391437:E474K;ENSP00000266679:E584K	.	E	+	1	0	CPSF6	67942589	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GAA		0.468	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007	
ACSS3	79611	broad.mit.edu	37	12	81593148	81593148	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:81593148C>T	ENST00000548058.1	+	9	2189	c.1279C>T	c.(1279-1281)Cga>Tga	p.R427*	ACSS3_ENST00000548324.1_Nonsense_Mutation_p.R109*|ACSS3_ENST00000261206.3_Nonsense_Mutation_p.R426*			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	427						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)	p.R427*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGCTGGAGAACGATGTGATGT	0.343																																					p.R427X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1279T	12						.						73.0	70.0	71.0					12																	81593148		2203	4300	6503	80117279	SO:0001587	stop_gained	79611	exon9				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1279C>T	12.37:g.81593148C>T	ENSP00000449535:p.Arg427*		80117279	NM_024560	Q8NC66	Nonsense_Mutation	SNP	ENST00000548058.1	37	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	37	6.462713	0.97585	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	.	.	.	6.05	5.09	0.68999	.	0.050684	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.844	14.595	0.68397	0.1888:0.8112:0.0:0.0	.	.	.	.	X	427;426;109	.	ENSP00000261206:R426X	R	+	1	2	ACSS3	80117279	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.157000	0.64911	1.351000	0.45789	0.650000	0.86243	CGA		0.343	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560	
PPFIA2	8499	broad.mit.edu	37	12	81762908	81762908	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:81762908C>A	ENST00000549396.1	-	12	1492	c.1332G>T	c.(1330-1332)aaG>aaT	p.K444N	PPFIA2_ENST00000548586.1_Missense_Mutation_p.K444N|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Missense_Mutation_p.K11N|PPFIA2_ENST00000550584.2_Missense_Mutation_p.K444N|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000333447.7_Missense_Mutation_p.K426N|PPFIA2_ENST00000550359.2_Missense_Mutation_p.K291N|PPFIA2_ENST00000407050.4_Missense_Mutation_p.K370N|PPFIA2_ENST00000549325.1_Missense_Mutation_p.K426N|PPFIA2_ENST00000443686.3_Missense_Mutation_p.K345N|PPFIA2_ENST00000552948.1_Missense_Mutation_p.K444N	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	444	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.K444N(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GTTCTTGATTCTTCTCTTCAA	0.328																																					p.K444N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1332T	12						.						109.0	101.0	103.0					12																	81762908		1818	4076	5894	80287039	SO:0001583	missense	8499	exon12			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1332G>T	12.37:g.81762908C>A	ENSP00000450337:p.Lys444Asn		80287039	NM_003625	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.78|15.78	2.933866|2.933866	0.52866|0.52866	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058;ENST00000548670|ENST00000548790	T;T;T;T;T;T;T;T;T|.	0.77750|.	1.17;1.17;1.6;1.17;-1.12;1.17;1.17;1.17;1.17|.	5.19|5.19	-1.48|-1.48	0.08745|0.08745	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73606|0.73606	0.3608|0.3608	M|M	0.88842|0.88842	2.985|2.985	0.80722|0.80722	D|D	1|1	D|.	0.57899|.	0.981|.	D|.	0.69824|.	0.966|.	T|T	0.72541|0.72541	-0.4262|-0.4262	10|5	0.42905|.	T|.	0.14|.	-27.8549|-27.8549	8.5193|8.5193	0.33266|0.33266	0.1174:0.7348:0.0:0.1478|0.1174:0.7348:0.0:0.1478	.|.	444|.	O75334|.	LIPA2_HUMAN|.	N|I	444;426;11;370;455;426;444;345;444;25;11|283	ENSP00000450337:K444N;ENSP00000450298:K426N;ENSP00000438337:K11N;ENSP00000385093:K370N;ENSP00000327416:K426N;ENSP00000449338:K444N;ENSP00000388373:K345N;ENSP00000447868:K444N;ENSP00000448941:K25N|.	ENSP00000327416:K426N|.	K|R	-|-	3|2	2|0	PPFIA2|PPFIA2	80287039|80287039	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.955000|0.955000	0.61496|0.61496	2.135000|2.135000	0.42112|0.42112	-0.377000|-0.377000	0.07930|0.07930	-1.305000|-1.305000	0.01319|0.01319	AAG|AGA		0.328	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		
DUSP6	1848	broad.mit.edu	37	12	89743266	89743266	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:89743266G>A	ENST00000279488.7	-	3	2142	c.911C>T	c.(910-912)aCt>aTt	p.T304I	DUSP6_ENST00000308385.6_Missense_Mutation_p.T158I|DUSP6_ENST00000547291.1_Missense_Mutation_p.T179I|DUSP6_ENST00000547140.1_5'UTR	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	304	Tyrosine-protein phosphatase.				cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)	p.T304I(1)		large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						GTAAGCCACAGTCACAGTGAC	0.448																																					p.T158I	Colon(132;3456 5224)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C473T	12						.						104.0	98.0	100.0					12																	89743266		2203	4300	6503	88267397	SO:0001583	missense	1848	exon2			BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.911C>T	12.37:g.89743266G>A	ENSP00000279488:p.Thr304Ile		88267397	NM_022652	O75109|Q53Y75|Q9BSH6	Missense_Mutation	SNP	ENST00000279488.7	37	CCDS9033.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458222	0.84317	.	.	ENSG00000139318	ENST00000279488;ENST00000308385;ENST00000547291	T;T;T	0.56103	0.48;0.48;0.48	5.68	5.68	0.88126	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.046598	0.85682	D	0.000000	T	0.65322	0.2680	L	0.35542	1.07	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.78314	0.991;0.931	T	0.64453	-0.6404	10	0.52906	T	0.07	.	20.1615	0.98135	0.0:0.0:1.0:0.0	.	158;304	Q16828-2;Q16828	.;DUS6_HUMAN	I	304;158;179	ENSP00000279488:T304I;ENSP00000307835:T158I;ENSP00000449838:T179I	ENSP00000279488:T304I	T	-	2	0	DUSP6	88267397	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	9.835000	0.99442	2.835000	0.97688	0.650000	0.86243	ACT		0.448	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2	NM_001946, NM_022652	
POC1B	282809	broad.mit.edu	37	12	89865994	89865994	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:89865994A>C	ENST00000313546.3	-	5	639	c.511T>G	c.(511-513)Tgg>Ggg	p.W171G	POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Missense_Mutation_p.W129G|POC1B_ENST00000378528.2_Missense_Mutation_p.W41G|POC1B_ENST00000541909.1_Missense_Mutation_p.W41G|POC1B_ENST00000393179.4_Missense_Mutation_p.W41G	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	171					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)		p.W171G(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						GTGGTATCCCAAATTTTAATA	0.348																																					p.W171G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T511G	12						.						138.0	133.0	135.0					12																	89865994		2203	4300	6503	88390125	SO:0001583	missense	282809	exon5			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.511T>G	12.37:g.89865994A>C	ENSP00000323302:p.Trp171Gly		88390125	NM_172240	G3V1X0	Missense_Mutation	SNP	ENST00000313546.3	37	CCDS31869.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.415699	0.83449	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000378528;ENST00000549035;ENST00000541909	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94716	0.8295	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96604	0.9447	10	0.87932	D	0	.	16.3979	0.83621	1.0:0.0:0.0:0.0	.	171	Q8TC44	POC1B_HUMAN	G	41;171;41;129;41	ENSP00000376877:W41G;ENSP00000323302:W171G;ENSP00000367789:W41G;ENSP00000447916:W129G;ENSP00000440301:W41G	ENSP00000323302:W171G	W	-	1	0	POC1B	88390125	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.829000	0.92055	2.333000	0.79357	0.533000	0.62120	TGG		0.348	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240	
EPYC	1833	broad.mit.edu	37	12	91365698	91365698	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:91365698C>T	ENST00000261172.3	-	5	673	c.581G>A	c.(580-582)cGa>cAa	p.R194Q		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	194					female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)	p.R194Q(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						GACAAGCTCTCGAAGTTGAGG	0.373																																					p.R194Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G581A	12						.						84.0	77.0	79.0					12																	91365698		2203	4300	6503	89889829	SO:0001583	missense	1833	exon5			AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3053	protein-coding gene	gene with protein product	"""epiphycan proteoglycan"""	601657	"""dermatan sulphate proteoglycan 3"", ""dermatan sulfate proteoglycan 3"""	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.581G>A	12.37:g.91365698C>T	ENSP00000261172:p.Arg194Gln		89889829	NM_004950	A8K3M7|Q8NEJ5	Missense_Mutation	SNP	ENST00000261172.3	37	CCDS31870.1	.	.	.	.	.	.	.	.	.	.	C	5.810	0.333709	0.11013	.	.	ENSG00000083782	ENST00000261172;ENST00000551767	T;T	0.58060	0.36;0.36	6.03	3.96	0.45880	.	0.515801	0.22537	N	0.058778	T	0.25975	0.0633	N	0.17800	0.525	0.22266	N	0.999242	B	0.14012	0.009	B	0.12156	0.007	T	0.30650	-0.9971	10	0.02654	T	1	.	1.1874	0.01858	0.1457:0.3903:0.1416:0.3224	.	194	Q99645	EPYC_HUMAN	Q	194	ENSP00000261172:R194Q;ENSP00000448272:R194Q	ENSP00000261172:R194Q	R	-	2	0	EPYC	89889829	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.956000	0.29202	0.666000	0.31087	0.655000	0.94253	CGA		0.373	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407146.2	NM_004950	
LUM	4060	broad.mit.edu	37	12	91502246	91502246	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:91502246G>T	ENST00000266718.4	-	2	965	c.511C>A	c.(511-513)Ctg>Atg	p.L171M	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	171					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|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)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.L171M(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TCCTCTTTCAGCCGATTGTGC	0.453																																					p.L171M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C511A	12						.						98.0	100.0	99.0					12																	91502246		2203	4300	6503	90026377	SO:0001583	missense	4060	exon2			BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.511C>A	12.37:g.91502246G>T	ENSP00000266718:p.Leu171Met		90026377	NM_002345	B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577198	0.45902	.	.	ENSG00000139329	ENST00000266718	T	0.69175	-0.38	5.6	2.24	0.28232	.	0.000000	0.64402	D	0.000001	T	0.80808	0.4694	M	0.82923	2.615	0.50171	D	0.999858	D	0.89917	1.0	D	0.85130	0.997	T	0.82291	-0.0530	10	0.72032	D	0.01	-15.5669	11.6591	0.51337	0.23:0.0:0.77:0.0	.	171	P51884	LUM_HUMAN	M	171	ENSP00000266718:L171M	ENSP00000266718:L171M	L	-	1	2	LUM	90026377	0.935000	0.31712	0.998000	0.56505	0.572000	0.35998	1.458000	0.35223	0.700000	0.31782	0.557000	0.71058	CTG		0.453	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345	
FGD6	55785	broad.mit.edu	37	12	95604071	95604071	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:95604071C>T	ENST00000343958.4	-	2	1212	c.989G>A	c.(988-990)tGt>tAt	p.C330Y	FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000546711.1_Missense_Mutation_p.C330Y|FGD6_ENST00000549499.1_Missense_Mutation_p.C330Y	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	330					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.C330Y(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AGTATCTACACACTTTTGGCG	0.408																																					p.C330Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G989A	12						.						122.0	125.0	124.0					12																	95604071		2203	4300	6503	94128202	SO:0001583	missense	55785	exon2			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.989G>A	12.37:g.95604071C>T	ENSP00000344446:p.Cys330Tyr		94128202	NM_018351	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	1.094	-0.663112	0.03428	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.66280	-0.1;-0.2;-0.12	5.71	0.506	0.16961	.	0.505773	0.16785	N	0.199618	T	0.30166	0.0756	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27773	-1.0064	10	0.02654	T	1	1.3294	8.732	0.34505	0.0:0.5379:0.0:0.4621	.	330	Q6ZV73	FGD6_HUMAN	Y	330	ENSP00000344446:C330Y;ENSP00000450342:C330Y;ENSP00000449005:C330Y	ENSP00000344446:C330Y	C	-	2	0	FGD6	94128202	0.003000	0.15002	0.000000	0.03702	0.256000	0.26092	1.008000	0.29872	0.099000	0.17552	-0.459000	0.05422	TGT		0.408	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351	
USP44	84101	broad.mit.edu	37	12	95922601	95922601	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:95922601C>T	ENST00000258499.3	-	3	1894	c.1606G>A	c.(1606-1608)Gta>Ata	p.V536I	USP44_ENST00000393091.2_Missense_Mutation_p.V536I|USP44_ENST00000537435.2_Missense_Mutation_p.V536I|USP44_ENST00000552440.1_Intron	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	536	USP.				mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.V536I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TGGTCACATACGTAGATTTTT	0.393																																					p.V536I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1606A	12						.						117.0	112.0	114.0					12																	95922601		2203	4300	6503	94446732	SO:0001583	missense	84101	exon3			AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.1606G>A	12.37:g.95922601C>T	ENSP00000258499:p.Val536Ile		94446732	NM_001042403	B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891693	0.33442	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000537435	T;T;T	0.02812	4.15;4.15;4.15	5.64	-1.83	0.07833	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.279225	0.39407	N	0.001367	T	0.01765	0.0056	N	0.11756	0.17	0.23023	N	0.99842	B	0.10296	0.003	B	0.10450	0.005	T	0.45483	-0.9258	10	0.22109	T	0.4	.	12.463	0.55743	0.0:0.6569:0.0:0.3431	.	536	Q9H0E7	UBP44_HUMAN	I	536	ENSP00000258499:V536I;ENSP00000376806:V536I;ENSP00000442629:V536I	ENSP00000258499:V536I	V	-	1	0	USP44	94446732	0.996000	0.38824	0.948000	0.38648	0.989000	0.77384	0.564000	0.23563	-0.581000	0.05937	0.561000	0.74099	GTA		0.393	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147	
AMDHD1	144193	broad.mit.edu	37	12	96350699	96350699	+	Silent	SNP	C	C	T	rs199864506		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:96350699C>T	ENST00000266736.2	+	4	652	c.546C>T	c.(544-546)atC>atT	p.I182I		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	182					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)	p.I182I(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						AGCTGGACATCGGCATCTCGG	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16861	0.0		0.0	False		,,,				2504	0.0				p.I182I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C546T	12						.						91.0	99.0	96.0					12																	96350699		2203	4300	6503	94874830	SO:0001819	synonymous_variant	144193	exon4			AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.546C>T	12.37:g.96350699C>T			94874830	NM_152435	A8K463|Q68CI8	Silent	SNP	ENST00000266736.2	37	CCDS9057.1																																																																																				0.612	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435	
HAL	3034	broad.mit.edu	37	12	96370437	96370437	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:96370437G>A	ENST00000261208.3	-	19	2070	c.1702C>T	c.(1702-1704)Cgt>Tgt	p.R568C	HAL_ENST00000541929.1_Missense_Mutation_p.R360C|HAL_ENST00000538703.1_Missense_Mutation_p.R568C	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	568					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)	p.R568C(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TTCAGGGGACGTAGAAACTCT	0.473																																					p.R568C	NSCLC(169;943 2815 23563 30031)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1702T	12						.						87.0	85.0	86.0					12																	96370437		2203	4300	6503	94894568	SO:0001583	missense	3034	exon19				CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.1702C>T	12.37:g.96370437G>A	ENSP00000261208:p.Arg568Cys		94894568	NM_002108	B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	CCDS9058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.22|19.22	3.785360|3.785360	0.70337|0.70337	.|.	.|.	ENSG00000084110|ENSG00000084110	ENST00000261208;ENST00000541929;ENST00000538703|ENST00000548808	T;T;T|.	0.77620|.	-1.11;-1.11;-1.11|.	5.22|5.22	5.22|5.22	0.72569|0.72569	L-Aspartase-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87378|0.87378	0.6162|0.6162	H|H	0.94582|0.94582	3.555|3.555	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.996;0.994|.	D|D	0.90965|0.90965	0.4815|0.4815	10|5	0.72032|.	D|.	0.01|.	-14.7158|-14.7158	18.7996|18.7996	0.92010|0.92010	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	568;568|.	F5GXF2;P42357|.	.;HUTH_HUMAN|.	C|M	568;360;568|99	ENSP00000261208:R568C;ENSP00000446364:R360C;ENSP00000440861:R568C|.	ENSP00000261208:R568C|.	R|T	-|-	1|2	0|0	HAL|HAL	94894568|94894568	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.078000|0.078000	0.17371|0.17371	9.476000|9.476000	0.97823|0.97823	2.443000|2.443000	0.82685|0.82685	0.655000|0.655000	0.94253|0.94253	CGT|ACG		0.473	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1		
P2RX2	22953	broad.mit.edu	37	12	133197056	133197056	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr12:133197056G>A	ENST00000389110.3	+	7	698	c.661G>A	c.(661-663)Ggg>Agg	p.G221R	P2RX2_ENST00000449132.2_Missense_Mutation_p.R185Q|P2RX2_ENST00000343948.4_Missense_Mutation_p.G221R|P2RX2_ENST00000352418.4_Missense_Mutation_p.G149R|P2RX2_ENST00000348800.5_Missense_Mutation_p.G221R|P2RX2_ENST00000351222.4_Missense_Mutation_p.G129R|P2RX2_ENST00000350048.5_Missense_Mutation_p.G197R	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	221					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)	p.G221R(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CCGCACAGACGGGTACCTGAA	0.632																																					p.G221R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G661A	12						.						71.0	67.0	68.0					12																	133197056		2203	4300	6503	131707129	SO:0001583	missense	22953	exon7			AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	15459	protein-coding gene	gene with protein product		600844	"""deafness, autosomal dominant 41"""	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.661G>A	12.37:g.133197056G>A	ENSP00000373762:p.Gly221Arg		131707129	NM_174873	A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP	ENST00000389110.3	37	CCDS31931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.67|14.67	2.603441|2.603441	0.46423|0.46423	.|.	.|.	ENSG00000187848|ENSG00000187848	ENST00000389110;ENST00000343948;ENST00000352418;ENST00000350048;ENST00000351222;ENST00000348800|ENST00000449132	T;T;T;T;T;T|T	0.04119|0.10192	3.7;3.7;3.7;3.7;3.7;3.7|2.9	5.58|5.58	3.74|3.74	0.42951|0.42951	.|.	0.598725|.	0.17785|.	N|.	0.162091|.	T|T	0.08268|0.08268	0.0206|0.0206	L|L	0.40543|0.40543	1.245|1.245	0.26788|0.26788	N|N	0.969466|0.969466	B;P;D;B;B;B;B|P	0.71674|0.41232	0.121;0.61;0.998;0.021;0.171;0.197;0.099|0.743	B;B;P;B;B;B;B|B	0.59056|0.32393	0.06;0.04;0.851;0.006;0.027;0.027;0.01|0.145	T|T	0.20273|0.20273	-1.0280|-1.0280	10|9	0.39692|0.59425	T|D	0.17|0.04	-10.277|-10.277	7.8894|7.8894	0.29669|0.29669	0.1434:0.0:0.7255:0.1311|0.1434:0.0:0.7255:0.1311	.|.	221;129;149;197;221;221;221|185	Q32MC3;Q9UBL9-5;Q9UBL9-6;Q9UBL9-3;Q9UBL9-4;Q9UBL9;Q9UBL9-2|Q9UBL9-7	.;.;.;.;.;P2RX2_HUMAN;.|.	R|Q	221;221;149;197;129;221|185	ENSP00000373762:G221R;ENSP00000343339:G221R;ENSP00000341419:G149R;ENSP00000343904:G197R;ENSP00000344502:G129R;ENSP00000345095:G221R|ENSP00000405531:R185Q	ENSP00000343339:G221R|ENSP00000405531:R185Q	G|R	+|+	1|2	0|0	P2RX2|P2RX2	131707129|131707129	0.001000|0.001000	0.12720|0.12720	0.341000|0.341000	0.25589|0.25589	0.073000|0.073000	0.16967|0.16967	0.815000|0.815000	0.27253|0.27253	0.712000|0.712000	0.32039|0.32039	0.555000|0.555000	0.69702|0.69702	GGG|CGG		0.632	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1		
NALCN	259232	broad.mit.edu	37	13	101910916	101910916	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:101910916G>A	ENST00000251127.6	-	11	1225	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	NALCN_ENST00000376196.3_Missense_Mutation_p.R382W|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	382					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.R382W(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACGGATGACCGCATCATTTTC	0.458																																					p.R382W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1144T	13						.						62.0	55.0	57.0					13																	101910916		2203	4300	6503	100708917	SO:0001583	missense	259232	exon11			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1144C>T	13.37:g.101910916G>A	ENSP00000251127:p.Arg382Trp		100708917	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.565837	0.65651	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98455	-4.56;-4.94	6.07	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.98169	0.9395	L	0.55990	1.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69654	0.965;0.947;0.948	D	0.97601	1.0123	10	0.72032	D	0.01	.	11.4908	0.50379	0.0:0.0:0.6685:0.3315	.	382;382;382	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	W	382	ENSP00000251127:R382W;ENSP00000365367:R382W	ENSP00000251127:R382W	R	-	1	2	NALCN	100708917	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	3.126000	0.50477	2.884000	0.98904	0.655000	0.94253	CGG		0.458	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
NALCN	259232	broad.mit.edu	37	13	101944633	101944633	+	Missense_Mutation	SNP	C	C	T	rs377716963		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:101944633C>T	ENST00000251127.6	-	8	965	c.884G>A	c.(883-885)cGt>cAt	p.R295H	NALCN_ENST00000376196.3_Missense_Mutation_p.R295H|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	295					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.R295H(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGAACGCCAACGGGGAAAGCT	0.463																																					p.R295H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G884A	13						.						87.0	69.0	75.0					13																	101944633		2203	4300	6503	100742634	SO:0001583	missense	259232	exon8			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.884G>A	13.37:g.101944633C>T	ENSP00000251127:p.Arg295His		100742634	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045655	0.93685	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98567	-5.0;-5.0	6.16	6.16	0.99307	Ion transport (1);	0.049727	0.85682	D	0.000000	D	0.97567	0.9203	N	0.14661	0.345	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.998	D;D;D	0.64877	0.91;0.915;0.93	D	0.97812	1.0251	10	0.44086	T	0.13	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	295;295;295	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	H	295	ENSP00000251127:R295H;ENSP00000365367:R295H	ENSP00000251127:R295H	R	-	2	0	NALCN	100742634	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CGT		0.463	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
ANKRD10	55608	broad.mit.edu	37	13	111532439	111532439	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:111532439C>T	ENST00000267339.2	-	6	942	c.808G>A	c.(808-810)Gta>Ata	p.V270I	ANKRD10_ENST00000375758.5_3'UTR	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	270								p.V270I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			GTATTCGATACGGAGCTACTG	0.438																																					p.V270I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G808A	13						.						53.0	55.0	55.0					13																	111532439		2203	4300	6503	110330440	SO:0001583	missense	55608	exon6			AK000100	CCDS9520.1, CCDS66580.1	13q33.3	2013-01-10			ENSG00000088448	ENSG00000088448		"""Ankyrin repeat domain containing"""	20265	protein-coding gene	gene with protein product							Standard	NM_017664		Approved	FLJ20093	uc001vrn.3	Q9NXR5	OTTHUMG00000017349	ENST00000267339.2:c.808G>A	13.37:g.111532439C>T	ENSP00000267339:p.Val270Ile		110330440	NM_017664	Q5VW12|Q9BV12	Missense_Mutation	SNP	ENST00000267339.2	37	CCDS9520.1	.	.	.	.	.	.	.	.	.	.	C	9.264	1.043985	0.19748	.	.	ENSG00000088448	ENST00000267339	T	0.70516	-0.49	5.24	1.6	0.23607	.	0.352735	0.26746	N	0.022719	T	0.49167	0.1541	L	0.28740	0.885	0.80722	D	1	B	0.24823	0.112	B	0.12156	0.007	T	0.16247	-1.0409	10	0.16420	T	0.52	-2.1537	5.2891	0.15717	0.0:0.3936:0.1445:0.462	.	270	Q9NXR5	ANR10_HUMAN	I	270	ENSP00000267339:V270I	ENSP00000267339:V270I	V	-	1	0	ANKRD10	110330440	0.962000	0.33011	0.986000	0.45419	0.995000	0.86356	-0.133000	0.10451	-0.009000	0.14296	0.455000	0.32223	GTA		0.438	ANKRD10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045783.1		
ARHGEF7	8874	broad.mit.edu	37	13	111935663	111935663	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:111935663C>T	ENST00000375741.2	+	17	2216	c.1966C>T	c.(1966-1968)Cgg>Tgg	p.R656W	ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R553W|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R606W|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.R563W|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.R478W|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.R478W|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.R478W|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.R478W|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R635W|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.R400W	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	656					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R635W(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GAGCTGCCTGCGGCCCGCGCC	0.677																																					p.R606W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1816T	13						.						31.0	30.0	30.0					13																	111935663		2178	4276	6454	110733664	SO:0001583	missense	8874	exon15			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1966C>T	13.37:g.111935663C>T	ENSP00000364893:p.Arg656Trp		110733664	NM_001113512	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981381	0.74474	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T	0.77098	-0.38;-0.4;-0.39;-0.33;-0.35;-0.3;-0.3;-0.35;-0.42;-1.07	4.58	3.67	0.42095	.	0.000000	0.85682	D	0.000000	D	0.85995	0.5827	M	0.75615	2.305	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0	D	0.87179	0.2226	10	0.72032	D	0.01	.	11.4607	0.50208	0.3162:0.6837:0.0:0.0	.	400;553;478;606;656;635	E9PDQ5;B7Z6G2;Q14155-6;Q14155-2;Q14155;Q14155-3	.;.;.;.;ARHG7_HUMAN;.	W	635;656;606;563;633;478;478;478;553;478;400	ENSP00000325994:R635W;ENSP00000364893:R656W;ENSP00000364891:R606W;ENSP00000359657:R563W;ENSP00000218789:R478W;ENSP00000364888:R478W;ENSP00000397068:R478W;ENSP00000364889:R553W;ENSP00000364875:R478W;ENSP00000417596:R400W	ENSP00000218789:R478W	R	+	1	2	ARHGEF7	110733664	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.611000	0.36879	2.101000	0.63845	0.561000	0.74099	CGG		0.677	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511	
MCF2L	23263	broad.mit.edu	37	13	113718650	113718650	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:113718650C>T	ENST00000375608.3	+	7	670	c.612C>T	c.(610-612)caC>caT	p.H204H	MCF2L_ENST00000375597.4_Silent_p.H172H|MCF2L_ENST00000375604.2_Silent_p.H231H|MCF2L_ENST00000423482.2_Silent_p.H172H|MCF2L_ENST00000535094.2_Silent_p.H174H|MCF2L_ENST00000375601.3_Silent_p.H178H|MCF2L_ENST00000421756.1_Silent_p.H178H|MCF2L_ENST00000397030.1_Silent_p.H207H|MCF2L_ENST00000442652.2_Silent_p.H204H|MCF2L_ENST00000434480.2_Silent_p.H180H			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	204	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H172H(1)|p.H178H(1)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CAGACTTACACGGTTACATCG	0.587																																					p.H178H												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C534T	13						.						153.0	123.0	134.0					13																	113718650		2203	4300	6503	112766651	SO:0001819	synonymous_variant	23263	exon6			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.612C>T	13.37:g.113718650C>T			112766651	NM_024979	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37																																																																																					0.587	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4		
LAMP1	3916	broad.mit.edu	37	13	113975948	113975948	+	Silent	SNP	G	G	A	rs372087869		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:113975948G>A	ENST00000332556.4	+	8	1214	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A	LAMP1_ENST00000397181.3_Silent_p.A287A	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	340	Second lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)	p.A340A(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			AGTGCAACGCGGAGGAGCACG	0.552																																					p.A340A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1020A	13						.	C		0,4162		0,0,2081	104.0	112.0	109.0		1020	-6.6	0.0	13		109	4,8390		0,4,4193	no	coding-synonymous	LAMP1	NM_005561.3		0,4,6274	AA,AG,GG		0.0477,0.0,0.0319		340/418	113975948	4,12552	2081	4197	6278	113023949	SO:0001819	synonymous_variant	3916	exon8			J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"""CD molecules"""	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.1020G>A	13.37:g.113975948G>A			113023949	NM_005561	B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Silent	SNP	ENST00000332556.4	37	CCDS41909.1																																																																																				0.552	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2		
TFDP1	7027	broad.mit.edu	37	13	114277524	114277524	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:114277524T>A	ENST00000375370.5	+	4	321	c.109T>A	c.(109-111)Tcc>Acc	p.S37T	TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000538138.1_5'UTR|TFDP1_ENST00000544902.1_5'UTR	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	37					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.S37T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			CGTTCACCCCTCCACCGTCAA	0.562										TSP Lung(29;0.18)																											p.S37T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T109A	13						.						99.0	75.0	83.0					13																	114277524		2202	4300	6502	113325525	SO:0001583	missense	7027	exon4			BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.109T>A	13.37:g.114277524T>A	ENSP00000364519:p.Ser37Thr		113325525	NM_007111	B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	ENST00000375370.5	37	CCDS9538.1	.	.	.	.	.	.	.	.	.	.	T	8.216	0.801499	0.16397	.	.	ENSG00000198176	ENST00000375370;ENST00000408980;ENST00000453989	T;T;T	0.33216	1.83;1.44;1.42	4.65	4.65	0.58169	.	0.247570	0.42294	D	0.000735	T	0.30759	0.0775	L	0.58101	1.795	0.80722	D	1	B;B;B	0.22800	0.075;0.031;0.007	B;B;B	0.14023	0.01;0.006;0.006	T	0.07290	-1.0780	10	0.34782	T	0.22	.	14.0931	0.65004	0.0:0.0:0.0:1.0	.	37;37;37	Q5JSB5;Q5JSB6;Q14186	.;.;TFDP1_HUMAN	T	37	ENSP00000364519:S37T;ENSP00000386145:S37T;ENSP00000401389:S37T	ENSP00000364519:S37T	S	+	1	0	TFDP1	113325525	0.981000	0.34729	0.070000	0.20053	0.105000	0.19272	1.728000	0.38105	1.727000	0.51537	0.402000	0.26972	TCC		0.562	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111	
RASA3	22821	broad.mit.edu	37	13	114765080	114765080	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:114765080T>G	ENST00000334062.7	-	20	2034	c.1913A>C	c.(1912-1914)gAg>gCg	p.E638A	RASA3_ENST00000389544.4_Missense_Mutation_p.E606A	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	638	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.E638A(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TTTGAAAGACTCCTCCTCCAG	0.587																																					p.E638A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1913C	13						.						91.0	95.0	94.0					13																	114765080		2203	4300	6503	113783182	SO:0001583	missense	22821	exon20				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1913A>C	13.37:g.114765080T>G	ENSP00000335029:p.Glu638Ala		113783182	NM_007368	A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	T	11.44	1.640122	0.29157	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	D;D	0.93547	-3.24;-3.24	5.36	5.36	0.76844	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.046515	0.85682	D	0.000000	D	0.92273	0.7549	L	0.33485	1.01	0.80722	D	1	P	0.34909	0.475	P	0.47251	0.542	D	0.90480	0.4459	9	.	.	.	.	15.3351	0.74247	0.0:0.0:0.0:1.0	.	638	Q14644	RASA3_HUMAN	A	638;606	ENSP00000335029:E638A;ENSP00000374195:E606A	.	E	-	2	0	RASA3	113783182	1.000000	0.71417	1.000000	0.80357	0.335000	0.28730	5.321000	0.65846	2.021000	0.59480	0.379000	0.24179	GAG		0.587	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368	
TUBA3C	7278	broad.mit.edu	37	13	19751332	19751332	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:19751332C>T	ENST00000400113.3	-	4	895	c.791G>A	c.(790-792)cGc>cAc	p.R264H		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	264					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R264H(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAAGTGGATGCGGGGGTACGG	0.612																																					p.R264H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G791A	13						.						127.0	116.0	120.0					13																	19751332		2203	4300	6503	18649332	SO:0001583	missense	7278	exon4			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.791G>A	13.37:g.19751332C>T	ENSP00000382982:p.Arg264His		18649332	NM_006001	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	12.93	2.084916	0.36758	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.84589	-1.87	1.19	1.19	0.21007	.	0.000000	0.47852	U	0.000212	D	0.86539	0.5957	.	.	.	0.42171	D	0.991647	.	.	.	.	.	.	D	0.86025	0.1509	7	0.87932	D	0	.	8.3297	0.32178	0.0:1.0:0.0:0.0	.	.	.	.	H	264	ENSP00000382982:R264H	ENSP00000354037:R264H	R	-	2	0	TUBA3C	18649332	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	6.295000	0.72744	0.972000	0.38314	0.175000	0.17021	CGC		0.612	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001	
SACS	26278	broad.mit.edu	37	13	23905345	23905345	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:23905345T>A	ENST00000382292.3	-	9	12943	c.12670A>T	c.(12670-12672)Ata>Tta	p.I4224L	SACS_ENST00000402364.1_Missense_Mutation_p.I3474L|SACS_ENST00000382298.3_Missense_Mutation_p.I4224L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4224					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.I4077L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATCTGATATATCTTTCCTAGA	0.343																																					p.I4224L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A12670T	13						.						45.0	48.0	47.0					13																	23905345		2203	4299	6502	22803345	SO:0001583	missense	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12670A>T	13.37:g.23905345T>A	ENSP00000371729:p.Ile4224Leu		22803345	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	9.399	1.077567	0.20227	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87256	-2.08;-2.23;-2.08	5.44	4.19	0.49359	.	0.190430	0.53938	D	0.000052	T	0.69878	0.3160	N	0.08118	0	0.24361	N	0.994871	B	0.15473	0.013	B	0.06405	0.002	T	0.52990	-0.8501	10	0.09338	T	0.73	.	9.562	0.39376	0.2713:0.0:0.0:0.7287	.	4224	Q9NZJ4	SACS_HUMAN	L	4224;3474;4224	ENSP00000371729:I4224L;ENSP00000385844:I3474L;ENSP00000371735:I4224L	ENSP00000371729:I4224L	I	-	1	0	SACS	22803345	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.491000	0.53252	2.049000	0.60858	0.460000	0.39030	ATA		0.343	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
MIPEP	4285	broad.mit.edu	37	13	24411877	24411877	+	Missense_Mutation	SNP	G	G	T	rs532320489	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:24411877G>T	ENST00000382172.3	-	13	1455	c.1357C>A	c.(1357-1359)Cgt>Agt	p.R453S		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	453			R -> H (in dbSNP:rs12858248).		protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.R453S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		CTGCCTCCACGGATAGTGAAA	0.363																																					p.R453S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1357A	13						.						102.0	100.0	101.0					13																	24411877		2203	4300	6503	23309877	SO:0001583	missense	4285	exon13				CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.1357C>A	13.37:g.24411877G>T	ENSP00000371607:p.Arg453Ser		23309877	NM_005932	Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	ENST00000382172.3	37	CCDS9303.1	.	.	.	.	.	.	.	.	.	.	G	30	5.057873	0.93846	.	.	ENSG00000027001	ENST00000382172	T	0.08807	3.05	5.82	5.82	0.92795	Metallopeptidase, catalytic domain (1);	0.095347	0.85682	D	0.000000	T	0.30727	0.0774	M	0.84585	2.705	0.80722	D	1	P	0.46457	0.878	P	0.55087	0.768	T	0.00972	-1.1495	10	0.49607	T	0.09	.	20.1022	0.97879	0.0:0.0:1.0:0.0	.	453	Q99797	MIPEP_HUMAN	S	453	ENSP00000371607:R453S	ENSP00000371607:R453S	R	-	1	0	MIPEP	23309877	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.727000	0.98787	2.759000	0.94783	0.555000	0.69702	CGT		0.363	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1		
ATP12A	479	broad.mit.edu	37	13	25263404	25263404	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:25263404A>G	ENST00000381946.3	+	5	604	c.437A>G	c.(436-438)tAc>tGc	p.Y146C	ATP12A_ENST00000218548.6_Missense_Mutation_p.Y146C			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	146					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.Y146C(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		ACCCAGGTGTACTTGGGCTGT	0.537																																					p.Y146C	Pancreas(156;1582 1935 18898 22665 26498)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A437G	13						.						186.0	174.0	178.0					13																	25263404		2203	4300	6503	24161404	SO:0001583	missense	479	exon5			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.437A>G	13.37:g.25263404A>G	ENSP00000371372:p.Tyr146Cys		24161404	NM_001185085	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	A	15.33	2.800665	0.50315	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.89617	-2.54;-2.54	5.14	3.9	0.45041	ATPase,  P-type, cytoplasmic transduction domain A (1);	.	.	.	.	D	0.94870	0.8342	H	0.94222	3.51	0.80722	D	1	D;D	0.76494	0.998;0.999	D;P	0.64877	0.93;0.793	D	0.95143	0.8265	9	0.87932	D	0	.	9.7229	0.40313	0.8459:0.0:0.0:0.1541	.	146;146	P54707-2;P54707	.;AT12A_HUMAN	C	146	ENSP00000218548:Y146C;ENSP00000371372:Y146C	ENSP00000218548:Y146C	Y	+	2	0	ATP12A	24161404	1.000000	0.71417	0.993000	0.49108	0.364000	0.29643	8.414000	0.90238	2.164000	0.68074	0.459000	0.35465	TAC		0.537	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	
CENPJ	55835	broad.mit.edu	37	13	25457445	25457445	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:25457445T>G	ENST00000381884.4	-	17	4072	c.3887A>C	c.(3886-3888)aAg>aCg	p.K1296T	CENPJ_ENST00000545981.1_3'UTR|CENPJ_ENST00000493190.1_5'Flank	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1296					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)	p.K1296T(1)		endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTCCCGTCTCTTGAACTGGGC	0.368																																					p.K1296T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3887C	13						.						224.0	203.0	210.0					13																	25457445		2203	4300	6503	24355445	SO:0001583	missense	55835	exon17			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3887A>C	13.37:g.25457445T>G	ENSP00000371308:p.Lys1296Thr		24355445	NM_018451	Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.650242	0.87958	.	.	ENSG00000151849	ENST00000381884	D	0.84223	-1.82	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.92573	0.7641	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93410	0.6768	10	0.66056	D	0.02	.	14.8458	0.70259	0.0:0.0:0.0:1.0	.	1296	Q9HC77	CENPJ_HUMAN	T	1296	ENSP00000371308:K1296T	ENSP00000371308:K1296T	K	-	2	0	CENPJ	24355445	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.313000	0.78978	2.161000	0.67846	0.482000	0.46254	AAG		0.368	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451	
GPR12	2835	broad.mit.edu	37	13	27333612	27333612	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:27333612C>T	ENST00000381436.2	-	1	815	c.353G>A	c.(352-354)gGc>gAc	p.G118D	GPR12_ENST00000405846.3_Missense_Mutation_p.G118D			P47775	GPR12_HUMAN	G protein-coupled receptor 12	118					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)	p.G118D(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GACAATGAGGCCGATCGTGAC	0.542																																					p.G118D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G353A	13						.						118.0	107.0	111.0					13																	27333612		2203	4300	6503	26231612	SO:0001583	missense	2835	exon2			U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.353G>A	13.37:g.27333612C>T	ENSP00000370844:p.Gly118Asp		26231612	NM_005288	Q5T8P3	Missense_Mutation	SNP	ENST00000381436.2	37	CCDS9319.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517202	0.85495	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.37915	1.17;1.17	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66626	0.2808	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72308	-0.4332	10	0.87932	D	0	.	19.0843	0.93196	0.0:1.0:0.0:0.0	.	118	P47775	GPR12_HUMAN	D	118	ENSP00000384932:G118D;ENSP00000370844:G118D	ENSP00000370844:G118D	G	-	2	0	GPR12	26231612	1.000000	0.71417	0.311000	0.25182	0.982000	0.71751	7.685000	0.84117	2.532000	0.85374	0.561000	0.74099	GGC		0.542	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2		
MTUS2	23281	broad.mit.edu	37	13	30062123	30062123	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:30062123C>T	ENST00000380808.2	+	4	639	c.423C>T	c.(421-423)gaC>gaT	p.D141D	MTUS2-AS1_ENST00000323380.5_RNA|MTUS2_ENST00000542829.1_Silent_p.D51D|MTUS2-AS1_ENST00000587588.1_RNA|MTUS2_ENST00000431530.3_Silent_p.D1172D	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1162						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.D141D(1)|p.D1172D(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGCAGGATGACCACGACCACA	0.577																																					p.D1172D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3516T	13						.						97.0	99.0	98.0					13																	30062123		2095	4239	6334	28960123	SO:0001819	synonymous_variant	23281	exon9			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.423C>T	13.37:g.30062123C>T			28960123	NM_001033602	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000380808.2	37	CCDS41874.1																																																																																				0.577	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044335.2	XM_166270	
SLC7A1	6541	broad.mit.edu	37	13	30097525	30097525	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:30097525C>T	ENST00000380752.5	-	7	1313	c.927G>A	c.(925-927)acG>acA	p.T309T		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	309					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)	p.T309T(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCATCATGAGCGTGAGGGCAG	0.607																																					p.T309T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G927A	13						.						96.0	80.0	86.0					13																	30097525		2203	4300	6503	28995525	SO:0001819	synonymous_variant	6541	exon7			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.927G>A	13.37:g.30097525C>T			28995525	NM_003045	Q5JR50	Silent	SNP	ENST00000380752.5	37	CCDS9333.1																																																																																				0.607	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045	
SLC7A1	6541	broad.mit.edu	37	13	30098324	30098324	+	Silent	SNP	C	C	T	rs202146685	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:30098324C>T	ENST00000380752.5	-	6	1157	c.771G>A	c.(769-771)tcG>tcA	p.S257S		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	257					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)	p.S257S(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCGCTGCCCCCGACAGGACAC	0.577													C|||	2	0.000399361	0.0	0.0	5008	,	,		16471	0.001		0.0	False		,,,				2504	0.001				p.S257S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G771A	13						.						63.0	65.0	64.0					13																	30098324		2203	4300	6503	28996324	SO:0001819	synonymous_variant	6541	exon6			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.771G>A	13.37:g.30098324C>T			28996324	NM_003045	Q5JR50	Silent	SNP	ENST00000380752.5	37	CCDS9333.1																																																																																				0.577	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045	
SUPT20H	55578	broad.mit.edu	37	13	37607682	37607682	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:37607682G>A	ENST00000350612.6	-	10	831	c.611C>T	c.(610-612)gCt>gTt	p.A204V	AL138706.1_ENST00000408173.1_RNA|SUPT20H_ENST00000464744.1_Missense_Mutation_p.A205V|SUPT20H_ENST00000360252.4_Missense_Mutation_p.A205V|SUPT20H_ENST00000356185.3_Missense_Mutation_p.A205V|SUPT20H_ENST00000475892.1_Missense_Mutation_p.A204V|SUPT20H_ENST00000542180.1_Missense_Mutation_p.A192V	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	204					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)	p.A204V(1)									GAGTGGTTCAGCTGTAGCTAG	0.403																																					p.A205V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C614T	13						.						164.0	143.0	150.0					13																	37607682		2203	4300	6503	36505682	SO:0001583	missense	55578	exon10			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.611C>T	13.37:g.37607682G>A	ENSP00000218894:p.Ala204Val		36505682	NM_017569	E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	G	35	5.539206	0.96474	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.75221	0.3820	M	0.86343	2.81	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.997;0.997;0.997;0.997;0.999	T	0.78414	-0.2213	10	0.87932	D	0	-9.4132	20.1731	0.98165	0.0:0.0:1.0:0.0	.	192;204;204;205;205;204	B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7	.;.;.;.;.;FA48A_HUMAN	V	205;204;204;205;204;205;192	ENSP00000353388:A205V;ENSP00000417510:A204V;ENSP00000218894:A204V;ENSP00000348512:A205V;ENSP00000419754:A205V;ENSP00000439000:A192V	ENSP00000218894:A204V	A	-	2	0	FAM48A	36505682	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.405000	0.97313	2.768000	0.95171	0.655000	0.94253	GCT		0.403	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569	
NAA16	79612	broad.mit.edu	37	13	41897288	41897288	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:41897288G>T	ENST00000379406.3	+	5	823	c.499G>T	c.(499-501)Gcc>Tcc	p.A167S	NAA16_ENST00000403412.3_Missense_Mutation_p.A167S|NAA16_ENST00000379367.3_Missense_Mutation_p.A167S	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	167					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)	p.A167S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TTATGATATGGCCCTAAAACT	0.398																																					p.A167S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G499T	13						.						152.0	149.0	150.0					13																	41897288		2203	4300	6503	40795288	SO:0001583	missense	79612	exon5			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.499G>T	13.37:g.41897288G>T	ENSP00000368716:p.Ala167Ser		40795288	NM_024561	B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171452	0.94807	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	T;T;D	0.83673	-0.31;-0.31;-1.75	5.74	5.74	0.90152	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000001	D	0.93138	0.7815	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	0.999;0.988;1.0	D;D;D	0.80764	0.974;0.925;0.994	D	0.93838	0.7134	10	0.87932	D	0	-10.6901	19.9004	0.96983	0.0:0.0:1.0:0.0	.	167;167;167	Q6N069;Q6N069-4;Q6N069-5	NAA16_HUMAN;.;.	S	167	ENSP00000368674:A167S;ENSP00000368716:A167S;ENSP00000386103:A167S	ENSP00000368674:A167S	A	+	1	0	NAA16	40795288	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.131000	0.94446	2.709000	0.92574	0.650000	0.86243	GCC		0.398	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527	
ENOX1	55068	broad.mit.edu	37	13	43810854	43810854	+	Silent	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:43810854A>G	ENST00000261488.6	-	15	2209	c.1632T>C	c.(1630-1632)gtT>gtC	p.V544V	ENOX1_ENST00000412891.1_Silent_p.V544V	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	544					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)	p.V544V(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TGACTAATGCAACTGTCAACA	0.338																																					p.V544V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1632C	13						.						113.0	108.0	110.0					13																	43810854		2202	4297	6499	42708854	SO:0001819	synonymous_variant	55068	exon15			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.1632T>C	13.37:g.43810854A>G			42708854	NM_001127615	A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Silent	SNP	ENST00000261488.6	37	CCDS9389.1																																																																																				0.338	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993	
NUFIP1	26747	broad.mit.edu	37	13	45515406	45515406	+	Missense_Mutation	SNP	G	G	A	rs371806496		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:45515406G>A	ENST00000379161.4	-	10	1469	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	475					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)	p.R475W(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		ATGATGTACCGAACACACTGC	0.343																																					p.R475W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1423T	13						.	G	TRP/ARG	0,4406		0,0,2203	86.0	79.0	82.0		1423	4.5	1.0	13		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	NUFIP1	NM_012345.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	475/496	45515406	1,13005	2203	4300	6503	44413406	SO:0001583	missense	26747	exon10			AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.1423C>T	13.37:g.45515406G>A	ENSP00000368459:p.Arg475Trp		44413406	NM_012345	Q8WVM5|Q96SG1	Missense_Mutation	SNP	ENST00000379161.4	37	CCDS9393.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082731	0.76528	0.0	1.16E-4	ENSG00000083635	ENST00000379161	T	0.61040	0.14	5.37	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.74520	0.3727	M	0.77616	2.38	0.54753	D	0.999988	D	0.89917	1.0	D	0.87578	0.998	T	0.77590	-0.2531	10	0.87932	D	0	-16.362	11.5449	0.50688	0.0:0.0:0.8209:0.1791	.	475	Q9UHK0	NUFP1_HUMAN	W	475	ENSP00000368459:R475W	ENSP00000368459:R475W	R	-	1	2	NUFIP1	44413406	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.444000	0.60001	1.355000	0.45865	0.573000	0.79308	CGG		0.343	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	NM_012345	
SIAH3	283514	broad.mit.edu	37	13	46357656	46357656	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:46357656G>A	ENST00000400405.2	-	2	778	c.672C>T	c.(670-672)tgC>tgT	p.C224C		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	224					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.C224C(1)		large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CCGAGTCCACGCACTCAAGAA	0.617																																					p.C224C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C672T	13						.						58.0	64.0	62.0					13																	46357656		2016	4163	6179	45255657	SO:0001819	synonymous_variant	283514	exon2				CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"""seven in absentia homolog 3 (Drosophila)"""			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.672C>T	13.37:g.46357656G>A			45255657	NM_198849	B7ZBP0|Q8N8M6	Silent	SNP	ENST00000400405.2	37	CCDS41883.1																																																																																				0.617	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849	
CDADC1	81602	broad.mit.edu	37	13	49854797	49854797	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:49854797T>C	ENST00000251108.6	+	8	1486	c.1373T>C	c.(1372-1374)aTg>aCg	p.M458T	CDADC1_ENST00000444959.1_Missense_Mutation_p.M260T	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	458							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)	p.M458T(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		ATCTCTTACATGAGGTTCGGG	0.383																																					p.M458T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1373C	13						.						122.0	115.0	118.0					13																	49854797		2203	4300	6503	48752798	SO:0001583	missense	81602	exon8			AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.1373T>C	13.37:g.49854797T>C	ENSP00000251108:p.Met458Thr		48752798	NM_030911	Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Missense_Mutation	SNP	ENST00000251108.6	37	CCDS9415.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755551	0.69648	.	.	ENSG00000102543	ENST00000251108;ENST00000444959	T;T	0.41758	0.99;0.99	5.77	5.77	0.91146	Cytidine deaminase-like (1);	0.042803	0.85682	D	0.000000	T	0.36908	0.0984	L	0.29908	0.895	0.53688	D	0.999976	P	0.48998	0.918	B	0.43701	0.428	T	0.18116	-1.0347	10	0.49607	T	0.09	-21.3544	15.5753	0.76373	0.0:0.0:0.0:1.0	.	458	Q9BWV3	CDAC1_HUMAN	T	458;260	ENSP00000251108:M458T;ENSP00000407226:M260T	ENSP00000251108:M458T	M	+	2	0	CDADC1	48752798	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.452000	0.66638	2.326000	0.78906	0.533000	0.62120	ATG		0.383	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	NM_030911	
FAM124A	220108	broad.mit.edu	37	13	51855296	51855296	+	Silent	SNP	C	C	T	rs189898463		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:51855296C>T	ENST00000322475.8	+	4	1680	c.1545C>T	c.(1543-1545)tgC>tgT	p.C515C	FAM124A_ENST00000280057.6_Silent_p.C551C	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	515								p.C551C(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		AGCTCCCATGCGATACCCCCA	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		17957	0.0		0.001	False		,,,				2504	0.0				p.C551C												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C1653T	13						.	C	,	0,4406		0,0,2203	75.0	68.0	70.0		1545,1653	-5.3	0.0	13		70	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	FAM124A	NM_001242312.1,NM_145019.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	515/547,551/583	51855296	2,13004	2203	4300	6503	50753297	SO:0001819	synonymous_variant	220108	exon5			AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.1545C>T	13.37:g.51855296C>T			50753297	NM_145019	A2A324|Q8N8P9|Q8NE66|Q96NJ9	Silent	SNP	ENST00000322475.8	37	CCDS55900.1																																																																																				0.597	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019	
PCDH17	27253	broad.mit.edu	37	13	58299138	58299138	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:58299138C>A	ENST00000377918.3	+	4	3216	c.3190C>A	c.(3190-3192)Ctg>Atg	p.L1064M		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1064					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1064M(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACCAGGAGCCCTGGCTGAAGC	0.547																																					p.L1064M	Melanoma(72;952 1291 1619 12849 33676)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3190A	13						.						89.0	87.0	87.0					13																	58299138		2203	4300	6503	57197139	SO:0001583	missense	27253	exon4			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3190C>A	13.37:g.58299138C>A	ENSP00000367151:p.Leu1064Met		57197139	NM_001040429	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	9.658	1.143296	0.21205	.	.	ENSG00000118946	ENST00000377918	T	0.53423	0.62	5.96	4.22	0.49857	.	0.000000	0.49305	D	0.000154	T	0.32406	0.0828	N	0.22421	0.69	0.32694	N	0.513768	D	0.55385	0.971	B	0.44278	0.445	T	0.41215	-0.9521	9	.	.	.	.	6.8702	0.24117	0.0:0.615:0.0:0.385	.	1064	O14917	PCD17_HUMAN	M	1064	ENSP00000367151:L1064M	.	L	+	1	2	PCDH17	57197139	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.417000	0.44653	0.844000	0.35094	-0.136000	0.14681	CTG		0.547	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
MYCBP2	23077	broad.mit.edu	37	13	77724946	77724946	+	Missense_Mutation	SNP	C	C	A	rs537525313		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:77724946C>A	ENST00000544440.2	-	47	6957	c.6940G>T	c.(6940-6942)Gca>Tca	p.A2314S	MYCBP2_ENST00000357337.6_Missense_Mutation_p.A2314S|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.A2352S					MYC binding protein 2, E3 ubiquitin protein ligase									p.A2314S(1)|p.A2352S(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTGGTGATGCCAGCCCTCCA	0.383																																					p.A2352S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7054T	13						.						197.0	180.0	186.0					13																	77724946		2203	4300	6503	76622947	SO:0001583	missense	23077	exon47			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6940G>T	13.37:g.77724946C>A	ENSP00000444596:p.Ala2314Ser		76622947	NM_015057		Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	C	15.77	2.932330	0.52866	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.27890	1.64;1.64;1.64	5.45	5.45	0.79879	Immunoglobulin E-set (1);	0.061231	0.64402	D	0.000003	T	0.25269	0.0614	L	0.34521	1.04	0.38838	D	0.955992	B	0.19200	0.034	B	0.14023	0.01	T	0.04840	-1.0923	10	0.41790	T	0.15	.	13.8777	0.63662	0.0:0.7233:0.2767:0.0	.	2314	O75592	MYCB2_HUMAN	S	2314;2352;2314	ENSP00000349892:A2314S;ENSP00000384288:A2352S;ENSP00000444596:A2314S	ENSP00000349892:A2314S	A	-	1	0	MYCBP2	76622947	1.000000	0.71417	0.953000	0.39169	0.942000	0.58702	6.635000	0.74295	2.546000	0.85860	0.650000	0.86243	GCA		0.383	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	
POU4F1	5457	broad.mit.edu	37	13	79175651	79175651	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:79175651C>T	ENST00000377208.5	-	2	1370	c.1159G>A	c.(1159-1161)Gcc>Acc	p.A387T	RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607205.1_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607220.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	387					axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.A387T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TCGGCGATGGCGGCGATCTTC	0.602																																					p.A387T	Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1159A	13						.						72.0	75.0	74.0					13																	79175651		2203	4300	6503	78073652	SO:0001583	missense	5457	exon2			X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.1159G>A	13.37:g.79175651C>T	ENSP00000366413:p.Ala387Thr		78073652	NM_006237	Q14986|Q15318|Q5T227	Missense_Mutation	SNP	ENST00000377208.5	37	CCDS31996.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814600	0.70912	.	.	ENSG00000152192	ENST00000377208	D	0.96200	-3.94	4.35	4.35	0.52113	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	U	0.000000	D	0.96185	0.8756	L	0.41124	1.26	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	D	0.97078	0.9782	10	0.87932	D	0	.	16.8947	0.86097	0.0:1.0:0.0:0.0	.	387	Q01851	PO4F1_HUMAN	T	387	ENSP00000366413:A387T	ENSP00000366413:A387T	A	-	1	0	POU4F1	78073652	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.629000	0.83207	2.159000	0.67721	0.499000	0.49734	GCC		0.602	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3		
ABCC4	10257	broad.mit.edu	37	13	95727803	95727803	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:95727803G>A	ENST00000376887.4	-	22	2803	c.2689C>T	c.(2689-2691)Cgg>Tgg	p.R897W	ABCC4_ENST00000474158.1_5'Flank|ABCC4_ENST00000412704.1_Missense_Mutation_p.R850W	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	897	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R897W(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	ACTGGACTCCGAGCTGGGGAA	0.532																																					p.R897W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2689T	13						.						73.0	73.0	73.0					13																	95727803		2203	4300	6503	94525804	SO:0001583	missense	10257	exon22			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2689C>T	13.37:g.95727803G>A	ENSP00000366084:p.Arg897Trp		94525804	NM_005845	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644179	0.67244	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.90004	-2.6;-2.6	5.39	5.39	0.77823	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97393	0.9147	H	0.99590	4.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.99327	1.0908	10	0.87932	D	0	.	19.1567	0.93514	0.0:0.0:1.0:0.0	.	850;897	O15439-2;O15439	.;MRP4_HUMAN	W	850;897	ENSP00000388657:R850W;ENSP00000366084:R897W	ENSP00000366084:R897W	R	-	1	2	ABCC4	94525804	1.000000	0.71417	0.992000	0.48379	0.051000	0.14879	7.592000	0.82676	2.508000	0.84585	0.563000	0.77884	CGG		0.532	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845	
SLC15A1	6564	broad.mit.edu	37	13	99361879	99361879	+	Silent	SNP	C	C	T	rs149819086		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:99361879C>T	ENST00000376503.5	-	14	1069	c.1014G>A	c.(1012-1014)ccG>ccA	p.P338P		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	338					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)	p.P338P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CATCGAAGATCGGGACCATGA	0.517																																					p.P338P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1014A	13						.	C		1,4405	2.1+/-5.4	0,1,2202	169.0	137.0	148.0		1014	2.8	1.0	13	dbSNP_134	148	0,8600		0,0,4300	no	coding-synonymous	SLC15A1	NM_005073.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		338/709	99361879	1,13005	2203	4300	6503	98159880	SO:0001819	synonymous_variant	6564	exon14			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1014G>A	13.37:g.99361879C>T			98159880	NM_005073	Q5VW82	Silent	SNP	ENST00000376503.5	37	CCDS9489.1																																																																																				0.517	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073	
CHAMP1	283489	broad.mit.edu	37	13	115090562	115090562	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr13:115090562G>A	ENST00000361283.1	+	3	1554	c.1245G>A	c.(1243-1245)gtG>gtA	p.V415V		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	415	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.V415V(1)									TTCCCCCAGTGTCTCCAGAGC	0.567																																					p.V415V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1245A	13						.						77.0	82.0	80.0					13																	115090562		2203	4300	6503	114108664	SO:0001819	synonymous_variant	283489	exon3			AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1245G>A	13.37:g.115090562G>A			114108664	NM_001164145	B3KU06|Q6P181|Q8NC88|Q9BST0	Silent	SNP	ENST00000361283.1	37	CCDS9545.1																																																																																				0.567	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436	
TRAF3	7187	broad.mit.edu	37	14	103371803	103371803	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:103371803C>T	ENST00000560371.1	+	11	1606	c.1389C>T	c.(1387-1389)gaC>gaT	p.D463D	TRAF3_ENST00000351691.5_Silent_p.D438D|TRAF3_ENST00000347662.4_Silent_p.D438D|TRAF3_ENST00000392745.2_Silent_p.D463D|TRAF3_ENST00000539721.1_Silent_p.D380D	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	463	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D463D(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		TGAACGGGGACGGGATGGGGA	0.527																																					p.D463D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1389T	14						.						208.0	183.0	192.0					14																	103371803		2203	4300	6503	102441556	SO:0001819	synonymous_variant	7187	exon12			U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.1389C>T	14.37:g.103371803C>T			102441556	NM_145725	B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Silent	SNP	ENST00000560371.1	37	CCDS9975.1																																																																																				0.527	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725	
CEP170B	283638	broad.mit.edu	37	14	105344289	105344289	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:105344289G>A	ENST00000414716.3	+	4	491	c.263G>A	c.(262-264)cGc>cAc	p.R88H	CEP170B_ENST00000556508.1_Missense_Mutation_p.R18H|CEP170B_ENST00000418279.1_Missense_Mutation_p.R18H|CEP170B_ENST00000453495.1_Missense_Mutation_p.R88H	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	88						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.R88H(1)									GATGTCATCCGCTTCGGCTAC	0.602																																					p.R18H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G53A	14						.						49.0	56.0	54.0					14																	105344289		2101	4226	6327	104415334	SO:0001583	missense	283638	exon3			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.263G>A	14.37:g.105344289G>A	ENSP00000404151:p.Arg88His		104415334	NM_015005	Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180290	0.78677	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	3.51	3.51	0.40186	.	0.154272	0.44097	D	0.000492	T	0.51839	0.1698	L	0.45744	1.44	0.46298	D	0.998975	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.57004	-0.7885	10	0.87932	D	0	-18.7455	13.9715	0.64242	0.0:0.0:1.0:0.0	.	88;18	Q9Y4F5-2;E9PFC1	.;.	H	18;88;88;18	ENSP00000451249:R18H;ENSP00000404151:R88H;ENSP00000407238:R88H;ENSP00000415006:R18H	ENSP00000404151:R88H	R	+	2	0	KIAA0284	104415334	1.000000	0.71417	0.986000	0.45419	0.480000	0.33159	7.413000	0.80104	1.798000	0.52647	0.313000	0.20887	CGC		0.602	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726	
AHNAK2	113146	broad.mit.edu	37	14	105409989	105409989	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:105409989G>A	ENST00000333244.5	-	7	11918	c.11799C>T	c.(11797-11799)agC>agT	p.S3933S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3933						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.S3933S(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)			CCACCTCCACGCTGGGCAGAG	0.617																																					p.S3933S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C11799T	14						.						144.0	154.0	151.0					14																	105409989		1959	4138	6097	104481034	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.11799C>T	14.37:g.105409989G>A			104481034	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
RNASE7	84659	broad.mit.edu	37	14	21511564	21511564	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:21511564A>G	ENST00000298690.4	+	2	670	c.413A>G	c.(412-414)cAg>cGg	p.Q138R	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	138					antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|membrane disruption in other organism (GO:0051673)|response to bacterium (GO:0009617)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|lipopolysaccharide binding (GO:0001530)|nucleic acid binding (GO:0003676)|peptidoglycan binding (GO:0042834)|ribonuclease activity (GO:0004540)	p.Q138R(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AAGCCTCCCCAGAAAAAGGAC	0.502																																					p.Q138R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A413G	14						.						126.0	125.0	125.0					14																	21511564		2188	4295	6483	20581404	SO:0001583	missense	84659	exon2			AJ131212	CCDS41914.1	14q11.1	2013-02-15			ENSG00000165799	ENSG00000165799		"""Ribonucleases, RNase A"""	19278	protein-coding gene	gene with protein product		612484				12244054, 12527768	Standard	NM_032572		Approved		uc001vzk.4	Q9H1E1	OTTHUMG00000171358	ENST00000298690.4:c.413A>G	14.37:g.21511564A>G	ENSP00000298690:p.Gln138Arg		20581404	NM_032572	P80927|P83685|Q546N3	Missense_Mutation	SNP	ENST00000298690.4	37	CCDS41914.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.023509	0.35701	.	.	ENSG00000165799	ENST00000298690	T	0.73047	-0.71	5.19	4.04	0.47022	Ribonuclease A, domain (4);	0.826225	0.09829	U	0.750421	T	0.76941	0.4058	M	0.82630	2.6	0.09310	N	1	B	0.33748	0.423	B	0.42282	0.382	T	0.67925	-0.5544	10	0.59425	D	0.04	-12.9007	7.7495	0.28888	0.9064:0.0:0.0936:0.0	.	138	Q9H1E1	RNAS7_HUMAN	R	138	ENSP00000298690:Q138R	ENSP00000298690:Q138R	Q	+	2	0	RNASE7	20581404	0.028000	0.19301	0.045000	0.18777	0.080000	0.17528	3.974000	0.56852	0.986000	0.38683	0.533000	0.62120	CAG		0.502	RNASE7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313936.1	NM_032572	
TOX4	9878	broad.mit.edu	37	14	21961062	21961062	+	Silent	SNP	T	T	A	rs571846793		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:21961062T>A	ENST00000405508.1	+	8	1563	c.1287T>A	c.(1285-1287)gcT>gcA	p.A429A	TOX4_ENST00000448790.2_Silent_p.A406A|TOX4_ENST00000262709.3_Silent_p.A429A			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	429	Gln/Pro-rich.|Poly-Ala.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CAGCAGCAGCTGCTGCTGCTG	0.582													T|||	1	0.000199681	0.0	0.0014	5008	,	,		14814	0.0		0.0	False		,,,				2504	0.0				p.A429A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1287A	14						.						63.0	73.0	70.0					14																	21961062		2201	4298	6499	21030902	SO:0001819	synonymous_variant	9878	exon7			AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1287T>A	14.37:g.21961062T>A			21030902	NM_014828	B4DPY8|B4DSM0|E7EV69	Silent	SNP	ENST00000405508.1	37	CCDS32043.1																																																																																				0.582	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828	
CDH24	64403	broad.mit.edu	37	14	23524047	23524047	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:23524047G>A	ENST00000267383.5	-	3	617	c.525C>T	c.(523-525)caC>caT	p.H175H	CDH24_ENST00000397359.3_Silent_p.H175H|CDH24_ENST00000554034.1_Silent_p.H175H|CDH24_ENST00000487137.2_Silent_p.H175H			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	175	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)	p.H175H(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CATCAGCATCGTGAGCAGTCA	0.577											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.H175H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C525T	14						.						79.0	71.0	74.0					14																	23524047		2203	4300	6503	22593887	SO:0001819	synonymous_variant	64403	exon4			AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.525C>T	14.37:g.23524047G>A		764	22593887	NM_022478	D3DS44|Q86UP1|Q9NT84	Silent	SNP	ENST00000267383.5	37	CCDS9585.1																																																																																				0.577	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478	
DHRS2	10202	broad.mit.edu	37	14	24108183	24108183	+	Missense_Mutation	SNP	G	G	A	rs562008596	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:24108183G>A	ENST00000250383.6	+	2	586	c.110G>A	c.(109-111)cGg>cAg	p.R37Q	DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Missense_Mutation_p.R37Q	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	37					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)	p.R37Q(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CTGGCTAACCGGGTAGCCGTG	0.627													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18833	0.0		0.0	False		,,,				2504	0.0				p.R37Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G110A	14						.						77.0	79.0	79.0					14																	24108183		2203	4300	6503	23178023	SO:0001583	missense	10202	exon2				CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.110G>A	14.37:g.24108183G>A	ENSP00000250383:p.Arg37Gln		23178023	NM_005794	D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP	ENST00000250383.6	37	CCDS9604.1	.	.	.	.	.	.	.	.	.	.	.	15.92	2.974435	0.53720	.	.	ENSG00000100867	ENST00000432832;ENST00000250383;ENST00000344777	T;T;T	0.25579	1.79;1.79;1.79	5.4	-5.85	0.02311	NAD(P)-binding domain (1);	0.556821	0.18046	N	0.153454	T	0.13030	0.0316	N	0.20845	0.615	0.09310	N	1	B;P;B;P	0.41710	0.364;0.552;0.123;0.76	B;B;B;B	0.35607	0.062;0.206;0.009;0.095	T	0.09684	-1.0663	10	0.59425	D	0.04	.	14.691	0.69085	0.7923:0.0:0.2077:0.0	.	15;37;37;15	Q13268;C9JZP6;D3DS54;Q13268-2	DHRS2_HUMAN;.;.;.	Q	37	ENSP00000401213:R37Q;ENSP00000250383:R37Q;ENSP00000344674:R37Q	ENSP00000250383:R37Q	R	+	2	0	DHRS2	23178023	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.337000	0.02657	-1.080000	0.03109	-0.253000	0.11424	CGG		0.627	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908	
IRF9	10379	broad.mit.edu	37	14	24635385	24635385	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:24635385G>A	ENST00000396864.3	+	9	1449	c.1162G>A	c.(1162-1164)Gcc>Acc	p.A388T	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Missense_Mutation_p.S328N	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	388					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A388T(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GCAGCAGGCAGCCATTCTGTC	0.527																																					p.A388T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1162A	14						.						64.0	64.0	64.0					14																	24635385		2203	4300	6503	23705225	SO:0001583	missense	10379	exon9			M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.1162G>A	14.37:g.24635385G>A	ENSP00000380073:p.Ala388Thr		23705225	NM_006084	D3DS61	Missense_Mutation	SNP	ENST00000396864.3	37	CCDS9615.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894696	0.72639	.	.	ENSG00000213928	ENST00000396864;ENST00000324076	D;D	0.94793	-3.52;-3.52	4.8	3.91	0.45181	SMAD domain-like (1);SMAD/FHA domain (1);	0.181219	0.22981	U	0.053301	D	0.94823	0.8328	M	0.61703	1.905	0.09310	N	1	D	0.67145	0.996	P	0.60012	0.867	D	0.88158	0.2855	10	0.87932	D	0	-14.722	6.2456	0.20815	0.0979:0.1898:0.7124:0.0	.	388	Q00978	IRF9_HUMAN	T	388;204	ENSP00000380073:A388T;ENSP00000313529:A204T	ENSP00000313529:A204T	A	+	1	0	IRF9	23705225	0.335000	0.24748	0.713000	0.30519	0.060000	0.15804	2.962000	0.49176	2.665000	0.90641	0.561000	0.74099	GCC		0.527	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2		
IPO4	79711	broad.mit.edu	37	14	24652821	24652821	+	Missense_Mutation	SNP	C	C	T	rs369678433		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:24652821C>T	ENST00000354464.6	-	20	2214	c.2038G>A	c.(2038-2040)Gtg>Atg	p.V680M	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	680					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)		p.V680M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		ATCTCCCCCACGGCAGCACAG	0.577																																					p.V680M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2038A	14						.	C	MET/VAL	1,4147		0,1,2073	96.0	108.0	104.0		2038	0.9	0.8	14		104	1,8439		0,1,4219	no	missense	IPO4	NM_024658.3	21	0,2,6292	TT,TC,CC		0.0118,0.0241,0.0159	benign	680/1082	24652821	2,12586	2074	4220	6294	23722661	SO:0001583	missense	79711	exon20			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2038G>A	14.37:g.24652821C>T	ENSP00000346453:p.Val680Met		23722661	NM_024658	B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	c	7.951	0.744851	0.15710	2.41E-4	1.18E-4	ENSG00000196497	ENST00000354464;ENST00000399536	T	0.66815	-0.23	5.76	0.926	0.19430	Armadillo-like helical (1);Armadillo-type fold (1);	0.165207	0.41500	N	0.000875	T	0.42108	0.1188	N	0.14661	0.345	0.22401	N	0.999131	B;B	0.17465	0.003;0.022	B;B	0.13407	0.004;0.009	T	0.29212	-1.0019	10	0.72032	D	0.01	-5.2495	3.4565	0.07518	0.1958:0.1153:0.5659:0.1231	.	680;680	Q8TEX9;Q8TEX9-2	IPO4_HUMAN;.	M	680;356	ENSP00000346453:V680M	ENSP00000346453:V680M	V	-	1	0	IPO4	23722661	0.910000	0.30920	0.797000	0.32132	0.205000	0.24178	0.811000	0.27198	-0.095000	0.12351	-1.825000	0.00597	GTG		0.577	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658	
GMPR2	51292	broad.mit.edu	37	14	24702528	24702528	+	Silent	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:24702528C>A	ENST00000355299.4	+	2	530	c.69C>A	c.(67-69)acC>acA	p.T23T	GMPR2_ENST00000420554.2_Silent_p.T41T|NEDD8-MDP1_ENST00000534348.1_5'Flank|NEDD8_ENST00000250495.5_5'Flank|NEDD8_ENST00000524927.1_5'Flank|GMPR2_ENST00000348719.7_Silent_p.T23T|NEDD8_ENST00000533242.1_5'Flank|GMPR2_ENST00000559910.1_Silent_p.T23T|GMPR2_ENST00000456667.3_Silent_p.T23T|GMPR2_ENST00000557854.1_Silent_p.T41T|GMPR2_ENST00000559836.1_Silent_p.T23T|GMPR2_ENST00000399440.2_Silent_p.T23T|NEDD8-MDP1_ENST00000604306.1_5'Flank|GMPR2_ENST00000559104.1_Silent_p.T41T	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	23					GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)	p.T23T(1)		large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		AACGCAGTACCCTTAAGTCTC	0.517																																					p.T41T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C123A	14						.						208.0	201.0	203.0					14																	24702528		1986	4158	6144	23772368	SO:0001819	synonymous_variant	51292	exon1				CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.69C>A	14.37:g.24702528C>A			23772368	NM_016576	D3DS66|Q567T0|Q6IAJ8|Q86T14	Silent	SNP	ENST00000355299.4	37	CCDS41935.1																																																																																				0.517	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576	
RALGAPA1	253959	broad.mit.edu	37	14	36094636	36094636	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:36094636C>A	ENST00000389698.3	-	34	5732	c.5342G>T	c.(5341-5343)aGg>aTg	p.R1781M	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.R1781M|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.R1794M|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.R1828M	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1781	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.R1781M(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATGAAAGCTCCTCCTAAATAG	0.368																																					p.R1781M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5342T	14						.						89.0	93.0	92.0					14																	36094636		2203	4297	6500	35164387	SO:0001583	missense	253959	exon34			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5342G>T	14.37:g.36094636C>A	ENSP00000374348:p.Arg1781Met		35164387	NM_194301	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.76|19.76	3.887765|3.887765	0.72410|0.72410	.|.	.|.	ENSG00000174373|ENSG00000174373	ENST00000554573|ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	.|D;D;D;D;D;D	.|0.93712	.|-3.27;-3.27;-3.27;-3.27;-3.27;-3.27	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.043792	.|0.85682	.|D	.|0.000000	.|D	.|0.95227	.|0.8452	L|L	0.54323|0.54323	1.7|1.7	0.41956|0.41956	D|D	0.990682|0.990682	.|D;P;D;P	.|0.61080	.|0.989;0.944;0.981;0.944	.|P;P;P;P	.|0.59643	.|0.861;0.492;0.627;0.593	.|D	.|0.95580	.|0.8645	.|10	.|0.72032	.|D	.|0.01	-11.4842|-11.4842	18.9914|18.9914	0.92794|0.92794	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1828;1794;1781;1781	.|Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.|.;.;.;RGPA1_HUMAN	X|M	64|1781;1781;1781;1828;419;1794;1828	.|ENSP00000374348:R1781M;ENSP00000302647:R1781M;ENSP00000258840:R1828M;ENSP00000451133:R419M;ENSP00000371803:R1794M;ENSP00000451877:R1828M	.|ENSP00000258840:R1828M	G|R	-|-	1|2	0|0	RALGAPA1|RALGAPA1	35164387|35164387	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.862000|2.862000	0.48388|0.48388	2.645000|2.645000	0.89757|0.89757	0.650000|0.650000	0.86243|0.86243	GGA|AGG		0.368	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022	
ABHD12B	145447	broad.mit.edu	37	14	51352507	51352507	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:51352507C>T	ENST00000337334.2	+	7	571	c.556C>T	c.(556-558)Ccc>Tcc	p.P186S	ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000395752.1_Missense_Mutation_p.P79S|ABHD12B_ENST00000353130.1_Missense_Mutation_p.P109S|PYGL_ENST00000532462.1_Intron	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	186							hydrolase activity (GO:0016787)	p.P109S(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					TACAGGTAAGCCCACAGAGGA	0.532																																					p.P109S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C325T	14						.						166.0	155.0	158.0					14																	51352507		2203	4300	6503	50422257	SO:0001583	missense	145447	exon5			BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"""Abhydrolase domain containing"""	19837	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 29"""	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.556C>T	14.37:g.51352507C>T	ENSP00000336693:p.Pro186Ser		50422257	NM_181814	Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Missense_Mutation	SNP	ENST00000337334.2	37	CCDS55916.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376566	0.82682	.	.	ENSG00000131969	ENST00000353130;ENST00000337334;ENST00000395752	T;T;T	0.48201	0.82;0.82;0.82	5.76	3.85	0.44370	.	0.105615	0.64402	D	0.000003	T	0.59128	0.2171	M	0.82517	2.595	0.53688	D	0.999975	P;B	0.39480	0.675;0.097	P;B	0.46825	0.528;0.098	T	0.63238	-0.6682	10	0.87932	D	0	-15.4212	11.0817	0.48064	0.1377:0.7118:0.1505:0.0	.	186;109	Q7Z5M8;Q7Z5M8-2	AB12B_HUMAN;.	S	109;186;79	ENSP00000343951:P109S;ENSP00000336693:P186S;ENSP00000379101:P79S	ENSP00000336693:P186S	P	+	1	0	ABHD12B	50422257	0.956000	0.32656	0.742000	0.31022	0.985000	0.73830	2.342000	0.43992	0.811000	0.34303	0.655000	0.94253	CCC		0.532	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411030.1		
PYGL	5836	broad.mit.edu	37	14	51372173	51372173	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:51372173G>A	ENST00000216392.7	-	20	2813	c.2481C>T	c.(2479-2481)aaC>aaT	p.N827N	PYGL_ENST00000532462.1_Intron|PYGL_ENST00000544180.2_Silent_p.N793N	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	827					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)	p.N827N(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	AAGGTTCCACGTTCCAGATGT	0.383																																					p.N827N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2481T	14						.						173.0	164.0	167.0					14																	51372173		2203	4300	6503	50441923	SO:0001819	synonymous_variant	5836	exon20				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.2481C>T	14.37:g.51372173G>A			50441923	NM_002863	A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	37	CCDS32080.1																																																																																				0.383	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863	
DACT1	51339	broad.mit.edu	37	14	59112171	59112171	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:59112171C>T	ENST00000335867.4	+	4	854	c.830C>T	c.(829-831)gCt>gTt	p.A277V	DACT1_ENST00000555845.1_3'UTR|DACT1_ENST00000556859.1_5'UTR|DACT1_ENST00000395153.3_Missense_Mutation_p.A240V|DACT1_ENST00000541264.2_5'UTR			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	277					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.A277V(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CATGCTGTGGCTGTGCAGAGC	0.498																																					p.A240V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C719T	14						.						155.0	142.0	147.0					14																	59112171		2203	4300	6503	58181924	SO:0001583	missense	51339	exon4			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.830C>T	14.37:g.59112171C>T	ENSP00000337439:p.Ala277Val		58181924	NM_001079520	A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929169	0.92389	.	.	ENSG00000165617	ENST00000395153;ENST00000335867	T;T	0.71579	-0.58;-0.58	5.71	5.71	0.89125	.	0.113668	0.56097	D	0.000026	D	0.85957	0.5818	M	0.83223	2.63	0.80722	D	1	D;D	0.61697	0.99;0.978	D;D	0.70016	0.967;0.911	D	0.87173	0.2222	10	0.87932	D	0	-14.3488	19.8493	0.96733	0.0:1.0:0.0:0.0	.	240;277	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	V	240;277	ENSP00000378582:A240V;ENSP00000337439:A277V	ENSP00000337439:A277V	A	+	2	0	DACT1	58181924	1.000000	0.71417	0.988000	0.46212	0.975000	0.68041	4.665000	0.61547	2.701000	0.92244	0.563000	0.77884	GCT		0.498	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651	
DAAM1	23002	broad.mit.edu	37	14	59798094	59798094	+	Silent	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:59798094T>C	ENST00000395125.1	+	13	1751	c.1728T>C	c.(1726-1728)ccT>ccC	p.P576P	DAAM1_ENST00000360909.3_Silent_p.P576P|DAAM1_ENST00000351081.1_Silent_p.P576P	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	576	FH1.|Pro-rich.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.P576P(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		gccctcctcctcccccAGGGC	0.637																																					p.P576P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1728C	14						.						30.0	33.0	32.0					14																	59798094		2202	4299	6501	58867847	SO:0001819	synonymous_variant	23002	exon14			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1728T>C	14.37:g.59798094T>C			58867847	NM_014992	Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	ENST00000395125.1	37	CCDS9737.1																																																																																				0.637	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992	
GPHB5	122876	broad.mit.edu	37	14	63784542	63784542	+	RNA	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:63784542G>T	ENST00000539258.1	-	0	78							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5						regulation of thyroid hormone mediated signaling pathway (GO:0002155)	extracellular region (GO:0005576)		p.L8I(1)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		ATGGGGCCAAGGAAGAGGAAT	0.577																																					p.L8I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C22A	14						.						40.0	43.0	42.0					14																	63784542		2027	4180	6207	62854295			122876	exon1			AF467770	CCDS73643.1	14q23.3	2006-09-25				ENSG00000179600			18055	protein-coding gene	gene with protein product		609652					Standard	NM_145171		Approved	ZLUT1, GPB5	uc021rud.1	Q86YW7			14.37:g.63784542G>T			62854295	NM_145171	Q6NTD0|Q8NFW2	Missense_Mutation	SNP	ENST00000539258.1	37																																																																																					0.577	GPHB5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000400582.1	NM_145171	
LRRC74A	145497	broad.mit.edu	37	14	77327163	77327163	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:77327163A>C	ENST00000393774.3	+	11	1356	c.1232A>C	c.(1231-1233)aAc>aCc	p.N411T		NM_194287.2	NP_919263.2												p.N411T(1)		breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		TTGTTGACAAACCCCATGAAA	0.537																																					p.N411T	Ovarian(165;1056 1958 32571 36789 48728)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1232C	14						.						117.0	117.0	117.0					14																	77327163		1977	4161	6138	76396916	SO:0001583	missense	145497	exon11																														ENST00000393774.3:c.1232A>C	14.37:g.77327163A>C	ENSP00000377369:p.Asn411Thr		76396916	NM_194287		Missense_Mutation	SNP	ENST00000393774.3	37	CCDS9853.2	.	.	.	.	.	.	.	.	.	.	A	16.93	3.258059	0.59321	.	.	ENSG00000100565	ENST00000393774	T	0.37411	1.2	4.77	2.28	0.28536	.	0.199224	0.41605	D	0.000853	T	0.31949	0.0813	M	0.70595	2.14	0.23082	N	0.998326	P	0.38922	0.651	B	0.35859	0.212	T	0.21895	-1.0232	10	0.48119	T	0.1	.	6.5344	0.22344	0.7592:0.1555:0.0853:0.0	.	411	Q0VAA2	CN16B_HUMAN	T	411	ENSP00000377369:N411T	ENSP00000377369:N411T	N	+	2	0	C14orf166B	76396916	0.784000	0.28713	0.578000	0.28575	0.903000	0.53119	1.362000	0.34148	0.976000	0.38417	0.402000	0.26972	AAC		0.537	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1		
C14orf159	80017	broad.mit.edu	37	14	91636353	91636353	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:91636353C>T	ENST00000523771.1	+	5	867	c.264C>T	c.(262-264)ggC>ggT	p.G88G	C14orf159_ENST00000522322.1_Silent_p.G88G|C14orf159_ENST00000521077.2_Silent_p.G88G|C14orf159_ENST00000428926.2_Silent_p.G88G|C14orf159_ENST00000520328.1_Silent_p.G88G|C14orf159_ENST00000256324.10_Silent_p.G88G|C14orf159_ENST00000525393.2_Intron|C14orf159_ENST00000518868.1_Silent_p.G88G|C14orf159_ENST00000523816.1_Silent_p.G88G|C14orf159_ENST00000412671.2_Silent_p.G88G			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	88						mitochondrion (GO:0005739)		p.G88G(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CCAGGATGGGCCATCCCCAGT	0.577																																					p.G88G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C264T	14						.						73.0	81.0	78.0					14																	91636353		2203	4300	6503	90706106	SO:0001819	synonymous_variant	80017	exon5			AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.264C>T	14.37:g.91636353C>T			90706106	NM_001102368	B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Silent	SNP	ENST00000523771.1	37	CCDS32141.1																																																																																				0.577	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952	
CCDC88C	440193	broad.mit.edu	37	14	91770293	91770293	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:91770293G>A	ENST00000389857.6	-	20	3473	c.3387C>T	c.(3385-3387)agC>agT	p.S1129S		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1129					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)	p.S1129S(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGAGCGCTGCGCTCTGGGAAC	0.657																																					p.S1129S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3387T	14						.						52.0	59.0	56.0					14																	91770293		2133	4251	6384	90840046	SO:0001819	synonymous_variant	440193	exon20				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3387C>T	14.37:g.91770293G>A			90840046	NM_001080414	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	CCDS45151.1																																																																																				0.657	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353	
TC2N	123036	broad.mit.edu	37	14	92268600	92268600	+	Missense_Mutation	SNP	G	G	A	rs377688531		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:92268600G>A	ENST00000435962.2	-	4	790	c.467C>T	c.(466-468)tCg>tTg	p.S156L	TC2N_ENST00000360594.5_Missense_Mutation_p.S156L|TC2N_ENST00000340892.5_Missense_Mutation_p.S156L|TC2N_ENST00000556018.1_Missense_Mutation_p.S156L	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	156					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)		p.S156L(3)		breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CTTCATACCCGATCCATACAG	0.348																																					p.S156L												.	.	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)	c.C467T	14						.	G	LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	96.0	83.0	87.0		467,467,467	5.6	1.0	14		87	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	TC2N	NM_001128595.1,NM_001128596.1,NM_152332.4	145,145,145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	156/491,156/491,156/491	92268600	2,13004	2203	4300	6503	91338353	SO:0001583	missense	123036	exon4			AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.467C>T	14.37:g.92268600G>A	ENSP00000387882:p.Ser156Leu		91338353	NM_001128596		Missense_Mutation	SNP	ENST00000435962.2	37	CCDS9897.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.195060	0.78902	0.0	2.33E-4	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018	T;T;T;T	0.17370	3.27;3.27;3.27;2.28	5.63	5.63	0.86233	.	0.417459	0.26971	N	0.021561	T	0.43033	0.1229	M	0.62723	1.935	0.58432	D	0.999993	D;D	0.89917	1.0;0.957	D;B	0.85130	0.997;0.357	T	0.19712	-1.0297	10	0.72032	D	0.01	-7.4689	19.6618	0.95876	0.0:0.0:1.0:0.0	.	156;156	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	L	156	ENSP00000387882:S156L;ENSP00000343199:S156L;ENSP00000353802:S156L;ENSP00000451317:S156L	ENSP00000343199:S156L	S	-	2	0	TC2N	91338353	1.000000	0.71417	0.997000	0.53966	0.604000	0.37047	7.114000	0.77103	2.643000	0.89663	0.650000	0.86243	TCG		0.348	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1	NM_152332	
TC2N	123036	broad.mit.edu	37	14	92278732	92278732	+	Silent	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:92278732A>G	ENST00000435962.2	-	3	548	c.225T>C	c.(223-225)ttT>ttC	p.F75F	TC2N_ENST00000340892.5_Silent_p.F75F|TC2N_ENST00000360594.5_Silent_p.F75F|TC2N_ENST00000556018.1_Silent_p.F75F	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	75					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)		p.F75F(1)		breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TGGGCACCACAAATGGTACTT	0.388																																					p.F75F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T225C	14						.						119.0	107.0	111.0					14																	92278732		2203	4300	6503	91348485	SO:0001819	synonymous_variant	123036	exon3			AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.225T>C	14.37:g.92278732A>G			91348485	NM_001128596		Silent	SNP	ENST00000435962.2	37	CCDS9897.1																																																																																				0.388	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1	NM_152332	
TRIP11	9321	broad.mit.edu	37	14	92472630	92472630	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:92472630G>A	ENST00000267622.4	-	11	2063	c.1690C>T	c.(1690-1692)Cta>Tta	p.L564L		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	564					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.L564L(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTTGAATTAGCTTTTCTTTC	0.299			T	PDGFRB	AML																																p.L564L	Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1690T	14						.						104.0	102.0	103.0					14																	92472630		2202	4295	6497	91542383	SO:0001819	synonymous_variant	9321	exon11			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1690C>T	14.37:g.92472630G>A			91542383	NM_004239	B2RUT2|O14689|O15154|O95949	Silent	SNP	ENST00000267622.4	37	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.701395	0.00725	.	.	ENSG00000100815	ENST00000554357	.	.	.	5.9	-1.14	0.09741	.	.	.	.	.	T	0.31358	0.0794	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.31806	-0.9930	4	.	.	.	.	7.8665	0.29541	0.4527:0.1211:0.4261:0.0	.	.	.	.	V	279	.	.	A	-	2	0	TRIP11	91542383	0.254000	0.23992	0.001000	0.08648	0.004000	0.04260	0.229000	0.17833	-0.368000	0.08040	-0.300000	0.09419	GCT		0.299	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1		
ITPK1	3705	broad.mit.edu	37	14	93483080	93483080	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:93483080C>T	ENST00000267615.6	-	4	360	c.187G>A	c.(187-189)Gtc>Atc	p.V63I	ITPK1_ENST00000556603.2_Missense_Mutation_p.V63I|ITPK1_ENST00000354313.3_Missense_Mutation_p.V63I|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000555495.1_5'UTR			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	63					blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)	p.V63I(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		TCAAGGATGACGTCAGTCAGC	0.572																																					p.V63I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G187A	14						.						147.0	118.0	128.0					14																	93483080		2203	4300	6503	92552833	SO:0001583	missense	3705	exon4			U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.187G>A	14.37:g.93483080C>T	ENSP00000267615:p.Val63Ile		92552833	NM_001142594	Q9BTL6|Q9H2E7	Missense_Mutation	SNP	ENST00000267615.6	37	CCDS9907.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589950	0.46214	.	.	ENSG00000100605	ENST00000354313;ENST00000405174;ENST00000556603;ENST00000267615;ENST00000311458;ENST00000556185;ENST00000555553;ENST00000553452;ENST00000557309	.	.	.	5.1	5.1	0.69264	.	0.066405	0.64402	D	0.000016	T	0.39009	0.1062	L	0.27053	0.805	0.45139	D	0.998158	P;P	0.41748	0.652;0.761	B;B	0.35770	0.21;0.175	T	0.21415	-1.0246	9	0.19590	T	0.45	2.2484	18.137	0.89622	0.0:1.0:0.0:0.0	.	63;63	Q13572;Q13572-2	ITPK1_HUMAN;.	I	63;93;63;63;63;81;63;63;63	.	ENSP00000267615:V63I	V	-	1	0	ITPK1	92552833	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.659000	0.61504	2.345000	0.79718	0.561000	0.74099	GTC		0.572	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216	
EVL	51466	broad.mit.edu	37	14	100594927	100594927	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:100594927delC	ENST00000402714.2	+	6	1157	c.553delC	c.(553-555)cccfs	p.P189fs	EVL_ENST00000544450.2_Frame_Shift_Del_p.P195fs|EVL_ENST00000392920.3_Frame_Shift_Del_p.P191fs			Q9UI08	EVL_HUMAN	Enah/Vasp-like	189	Pro-rich.				actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)	p.P189fs*41(1)		cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				Gcctccaccgccccccccacc	0.692																																					p.P187fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.559delC	14						.			66,97,4015		1,1,63,3,90,1931	13.0	14.0	14.0			-0.6	1.0	14		14	76,160,7746		4,0,68,6,148,3765	no	codingComplex	EVL	NM_016337.2		5,1,131,9,238,5696	A1A1,A1A2,A1R,A2A2,A2R,RR		2.9567,3.9014,3.2812			100594927	142,257,11761	2199	4289	6488	99664680	SO:0001589	frameshift_variant	51466	exon6			AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530	ENST00000402714.2:c.553delC	14.37:g.100594927delC	ENSP00000384720:p.Pro189fs		99664680	NM_016337	A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Frame_Shift_Del	DEL	ENST00000402714.2	37																																																																																					0.692	EVL-006	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000413958.1		
MIR412	574433	broad.mit.edu	37	14	101531951	101531951	+	RNA	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:101531951C>T	ENST00000362142.2	+	0	91				MIR409_ENST00000362237.1_RNA|MIR369_ENST00000362155.3_RNA|MIR541_ENST00000401360.1_RNA|MIR656_ENST00000385224.1_RNA|MIR410_ENST00000362222.2_RNA	NR_030155.1				microRNA 412																		GGAGATCGACCGTGTTATATT	0.527																																					.												.	.	0			.	14						.						156.0	143.0	147.0					14																	101531951		1568	3582	5150	100601704			442914	.					14q32.31	2011-09-12		2008-12-18	ENSG00000199012	ENSG00000199012		"""ncRNAs / Micro RNAs"""	32064	non-coding RNA	RNA, micro				MIRN412			Standard	NR_030155		Approved	hsa-mir-412	uc021sds.1				14.37:g.101531951C>T			100601704	.		RNA	SNP	ENST00000362142.2	37																																																																																					0.527	MIR412-201	KNOWN	basic	miRNA	miRNA		NR_030155	
JAG2	3714	broad.mit.edu	37	14	105618357	105618357	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr14:105618357G>A	ENST00000331782.3	-	7	1360	c.957C>T	c.(955-957)aaC>aaT	p.N319N	JAG2_ENST00000347004.2_Silent_p.N319N|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	319	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)	p.N319N(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ACGTGCCTCCGTTGGTGCAGG	0.672																																					p.N319N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C957T	14						.						51.0	54.0	53.0					14																	105618357		2203	4300	6503	104689402	SO:0001819	synonymous_variant	3714	exon7			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.957C>T	14.37:g.105618357G>A			104689402	NM_145159	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	CCDS9998.1																																																																																				0.672	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2		
POTEB2	100287399	broad.mit.edu	37	15	21066458	21066458	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:21066458G>A	ENST00000454856.4	-	3	644	c.612C>T	c.(610-612)acC>acT	p.T204T		NM_001277303.1	NP_001264232.1	H3BUK9	POTB2_HUMAN	POTE ankyrin domain family, member B2	204								p.T204T(1)									AGTGTAGAGCGGTATTTCCAT	0.383																																					p.T241T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C723T	15						.						1.0	1.0	1.0					15																	21066458		41	171	212	19331037	SO:0001819	synonymous_variant	339010	exon3				CCDS59248.1	15q11.2	2014-01-29			ENSG00000230031	ENSG00000230031		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	48327	protein-coding gene	gene with protein product							Standard	NM_001277303		Approved			H3BUK9	OTTHUMG00000185829	ENST00000454856.4:c.612C>T	15.37:g.21066458G>A			19331037	NM_207355		Silent	SNP	ENST00000454856.4	37	CCDS59248.1																																																																																				0.383	POTEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471435.1		
POTEB2	100287399	broad.mit.edu	37	15	21066765	21066765	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:21066765A>G	ENST00000454856.4	-	2	496	c.464T>C	c.(463-465)cTg>cCg	p.L155P		NM_001277303.1	NP_001264232.1	H3BUK9	POTB2_HUMAN	POTE ankyrin domain family, member B2	155								p.L155P(1)									TCTGTCCAGCAGGAGTTGTAC	0.428																																					p.L192P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T575C	15						.																																			19331344	SO:0001583	missense	339010	exon2				CCDS59248.1	15q11.2	2014-01-29			ENSG00000230031	ENSG00000230031		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	48327	protein-coding gene	gene with protein product							Standard	NM_001277303		Approved			H3BUK9	OTTHUMG00000185829	ENST00000454856.4:c.464T>C	15.37:g.21066765A>G	ENSP00000456953:p.Leu155Pro		19331344	NM_207355		Missense_Mutation	SNP	ENST00000454856.4	37	CCDS59248.1																																																																																				0.428	POTEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471435.1		
POTEB2	100287399	broad.mit.edu	37	15	21071550	21071550	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:21071550T>C	ENST00000454856.4	-	1	93	c.61A>G	c.(61-63)Agg>Ggg	p.R21G		NM_001277303.1	NP_001264232.1	H3BUK9	POTB2_HUMAN	POTE ankyrin domain family, member B2	21								p.R21G(1)									ATCTTGCTCCTGAGATCAAAT	0.572																																					p.R21G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A61G	15						.						1.0	1.0	1.0					15																	21071550		6	11	17	19336240	SO:0001583	missense	339010	exon1				CCDS59248.1	15q11.2	2014-01-29			ENSG00000230031	ENSG00000230031		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	48327	protein-coding gene	gene with protein product							Standard	NM_001277303		Approved			H3BUK9	OTTHUMG00000185829	ENST00000454856.4:c.61A>G	15.37:g.21071550T>C	ENSP00000456953:p.Arg21Gly		19336240	NM_207355		Missense_Mutation	SNP	ENST00000454856.4	37	CCDS59248.1																																																																																				0.572	POTEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471435.1		
MKRN3	7681	broad.mit.edu	37	15	23811187	23811187	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:23811187G>A	ENST00000314520.3	+	1	734	c.258G>A	c.(256-258)ccG>ccA	p.P86P	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Silent_p.P86P|MKRN3_ENST00000564592.1_Silent_p.P86P	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	86					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P86P(2)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGCCCAGTCCGTTGCCAAGCC	0.627																																					p.P86P												.	.	2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	c.G258A	15						.						39.0	38.0	38.0					15																	23811187		2203	4300	6503	21362280	SO:0001819	synonymous_variant	7681	exon1			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.258G>A	15.37:g.23811187G>A			21362280	NM_005664		Silent	SNP	ENST00000314520.3	37	CCDS10013.1																																																																																				0.627	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664	
GABRG3	2567	broad.mit.edu	37	15	27772635	27772635	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:27772635C>T	ENST00000333743.6	+	8	1176	c.922C>T	c.(922-924)Cca>Tca	p.P308S	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	308					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.P308S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAAGTCCTTGCCACGCGTGTC	0.567																																					p.P308S	NSCLC(114;800 1656 7410 37729 45293)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C922T	15						.						124.0	120.0	121.0					15																	27772635		2195	4293	6488	25446230	SO:0001583	missense	2567	exon8				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.922C>T	15.37:g.27772635C>T	ENSP00000331912:p.Pro308Ser		25446230	NM_033223	G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.877974	0.72294	.	.	ENSG00000182256	ENST00000333743;ENST00000554696	D;D	0.99382	-5.8;-5.8	5.48	5.48	0.80851	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.99507	0.9824	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98554	1.0638	10	0.87932	D	0	.	18.3414	0.90307	0.0:1.0:0.0:0.0	.	308	Q99928	GBRG3_HUMAN	S	308;250	ENSP00000331912:P308S;ENSP00000451862:P250S	ENSP00000331912:P308S	P	+	1	0	GABRG3	25446230	1.000000	0.71417	0.790000	0.31976	0.143000	0.21401	7.487000	0.81328	2.562000	0.86427	0.563000	0.77884	CCA		0.567	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2		
HERC2	8924	broad.mit.edu	37	15	28389859	28389859	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:28389859C>A	ENST00000261609.7	-	72	11208	c.11100G>T	c.(11098-11100)tgG>tgT	p.W3700C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.W3700C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGCGCCAGCCCCAGCCATTCA	0.577																																					p.W3700C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11100T	15						.						108.0	88.0	95.0					15																	28389859		2203	4300	6503	26063454	SO:0001583	missense	8924	exon72			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11100G>T	15.37:g.28389859C>A	ENSP00000261609:p.Trp3700Cys		26063454	NM_004667		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522823	0.85600	.	.	ENSG00000128731	ENST00000261609	D	0.90197	-2.63	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.96247	0.8776	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96672	0.9497	10	0.87932	D	0	.	19.3195	0.94233	0.0:1.0:0.0:0.0	.	3700	O95714	HERC2_HUMAN	C	3700	ENSP00000261609:W3700C	ENSP00000261609:W3700C	W	-	3	0	HERC2	26063454	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.442000	0.80503	2.638000	0.89438	0.655000	0.94253	TGG		0.577	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
HERC2	8924	broad.mit.edu	37	15	28456263	28456263	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:28456263G>A	ENST00000261609.7	-	44	7062	c.6954C>T	c.(6952-6954)tgC>tgT	p.C2318C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.C2318C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCAACTGCTGGCACCGCAGCA	0.602																																					p.C2318C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6954T	15						.						36.0	35.0	35.0					15																	28456263		2200	4297	6497	26129858	SO:0001819	synonymous_variant	8924	exon44			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6954C>T	15.37:g.28456263G>A			26129858	NM_004667		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																				0.602	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
OTUD7A	161725	broad.mit.edu	37	15	31776859	31776859	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:31776859C>T	ENST00000307050.4	-	11	1511	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S	OTUD7A_ENST00000382902.1_Silent_p.S480S	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	473					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.S473S(2)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CCGAGTCCAGCGAGTCGGCCA	0.632																																					p.S473S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G1419A	15						.						55.0	39.0	45.0					15																	31776859		2188	4294	6482	29564151	SO:0001819	synonymous_variant	161725	exon11			AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1419G>A	15.37:g.31776859C>T			29564151	NM_130901	Q8IWK5	Silent	SNP	ENST00000307050.4	37	CCDS10026.1																																																																																				0.632	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901	
MEIS2	4212	broad.mit.edu	37	15	37329122	37329122	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:37329122C>A	ENST00000561208.1	-	8	1211	c.793G>T	c.(793-795)Ggt>Tgt	p.G265C	MEIS2_ENST00000219869.9_Missense_Mutation_p.G119C|MEIS2_ENST00000382766.2_Missense_Mutation_p.G265C|MEIS2_ENST00000397620.2_Missense_Mutation_p.G177C|MEIS2_ENST00000397624.3_Missense_Mutation_p.G177C|MEIS2_ENST00000559085.1_Missense_Mutation_p.G252C|MEIS2_ENST00000424352.2_Missense_Mutation_p.G265C|MEIS2_ENST00000340545.5_Missense_Mutation_p.G252C|MEIS2_ENST00000557796.2_Missense_Mutation_p.G252C|MEIS2_ENST00000338564.5_Missense_Mutation_p.G265C|MEIS2_ENST00000444725.1_Missense_Mutation_p.G265C|MEIS2_ENST00000559561.1_Missense_Mutation_p.G265C			O14770	MEIS2_HUMAN	Meis homeobox 2	265	Asp/Glu-rich (acidic).				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.G265C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TCATCGTCACCTGTACCAGGT	0.423																																					p.G265C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G793T	15						.						186.0	161.0	170.0					15																	37329122		2201	4297	6498	35116414	SO:0001583	missense	4212	exon8			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.793G>T	15.37:g.37329122C>A	ENSP00000453793:p.Gly265Cys		35116414	NM_170676	A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.358769	0.61403	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620;ENST00000219869	T;D;D;D;D;D;D;D	0.89939	1.82;-2.35;-2.35;-2.24;-2.33;-2.34;-2.34;-2.59	5.14	5.14	0.70334	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.94984	0.8377	M	0.82323	2.585	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.989;0.999;1.0;0.999;1.0;0.993	D	0.95450	0.8533	10	0.87932	D	0	-7.9534	18.9599	0.92674	0.0:1.0:0.0:0.0	.	252;265;265;265;265;119;177;252	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP81;B3KPQ6;B3KP98	.;.;MEIS2_HUMAN;.;.;.;.;.	C	265;265;265;265;265;252;252;177;119	ENSP00000326296:G265C;ENSP00000341400:G265C;ENSP00000372216:G265C;ENSP00000404185:G265C;ENSP00000391887:G265C;ENSP00000339549:G252C;ENSP00000380745:G177C;ENSP00000219869:G119C	ENSP00000219869:G119C	G	-	1	0	MEIS2	35116414	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.556000	0.86216	0.650000	0.86243	GGT		0.423	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677	
MGA	23269	broad.mit.edu	37	15	42052632	42052632	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:42052632C>T	ENST00000570161.1	+	19	7303	c.7303C>T	c.(7303-7305)Cgg>Tgg	p.R2435W	MGA_ENST00000545763.1_Missense_Mutation_p.R2226W|MGA_ENST00000219905.7_Missense_Mutation_p.R2435W|MGA_ENST00000566586.1_Missense_Mutation_p.R2226W|MGA_ENST00000389936.4_Missense_Mutation_p.R2396W			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R2484W(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGAGCGGCGGCGGCGTGGTGA	0.438																																					p.R2435W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7303T	15						.						110.0	112.0	111.0					15																	42052632		1904	4110	6014	39839924	SO:0001583	missense	23269	exon20			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7303C>T	15.37:g.42052632C>T	ENSP00000457035:p.Arg2435Trp		39839924	NM_001164273	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369183	0.82463	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.99722	-6.53;-6.53;-6.53	5.53	4.6	0.57074	.	0.000000	0.49305	D	0.000156	D	0.99667	0.9876	M	0.83223	2.63	0.33026	D	0.529577	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.993	D	0.97732	1.0203	10	0.87932	D	0	.	15.6606	0.77186	0.1384:0.8616:0.0:0.0	.	1051;2226;2435	B4DVS1;F5H7K2;E7ENI0	.;.;.	W	2435;2396;2226	ENSP00000219905:R2435W;ENSP00000374586:R2396W;ENSP00000442467:R2226W	ENSP00000219905:R2435W	R	+	1	2	MGA	39839924	0.972000	0.33761	0.999000	0.59377	0.994000	0.84299	2.330000	0.43885	1.290000	0.44636	0.655000	0.94253	CGG		0.438	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
TP53BP1	7158	broad.mit.edu	37	15	43712881	43712881	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:43712881A>G	ENST00000263801.3	-	21	4540	c.4288T>C	c.(4288-4290)Tca>Cca	p.S1430P	TP53BP1_ENST00000382039.3_Missense_Mutation_p.S1385P|TP53BP1_ENST00000382044.4_Missense_Mutation_p.S1435P|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S1435P	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1430					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.S1430P(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCATCTGGTGACAAGTTAGGT	0.532								Other conserved DNA damage response genes																													p.S1430P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4288C	15						.						43.0	42.0	42.0					15																	43712881		2201	4297	6498	41500173	SO:0001583	missense	7158	exon21			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4288T>C	15.37:g.43712881A>G	ENSP00000263801:p.Ser1430Pro		41500173	NM_005657	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.444072	0.63067	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.05258	3.47;3.47;3.63;3.47	5.45	5.45	0.79879	.	0.167572	0.41097	D	0.000955	T	0.13756	0.0333	L	0.29908	0.895	0.51012	D	0.999905	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.75484	0.986;0.963;0.984;0.984	T	0.02031	-1.1226	10	0.56958	D	0.05	-8.8098	10.2663	0.43457	0.8526:0.0:0.0:0.1474	.	1435;1430;1435;1435	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	P	1430;1435;1385;1435	ENSP00000263801:S1430P;ENSP00000371475:S1435P;ENSP00000371470:S1385P;ENSP00000393497:S1435P	ENSP00000263801:S1430P	S	-	1	0	TP53BP1	41500173	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.460000	0.53028	2.193000	0.70182	0.477000	0.44152	TCA		0.532	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
CTDSPL2	51496	broad.mit.edu	37	15	44751367	44751367	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:44751367T>A	ENST00000260327.4	+	2	718	c.155T>A	c.(154-156)aTt>aAt	p.I52N	CTDSPL2_ENST00000558373.1_Missense_Mutation_p.I52N|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.I52N|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.I52N	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	52							phosphoprotein phosphatase activity (GO:0004721)	p.I52N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		TTGTCTTCAATTAAAAAATTT	0.408																																					p.I52N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T155A	15						.						66.0	74.0	71.0					15																	44751367		2198	4298	6496	42538659	SO:0001583	missense	51496	exon2			AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.155T>A	15.37:g.44751367T>A	ENSP00000260327:p.Ile52Asn		42538659	NM_016396	Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Missense_Mutation	SNP	ENST00000260327.4	37	CCDS10110.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.376698	0.82682	.	.	ENSG00000137770	ENST00000260327;ENST00000396780	T;T	0.78816	-1.21;-1.21	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.82788	0.5113	L	0.36672	1.1	0.52501	D	0.999952	D;D	0.76494	0.988;0.999	D;D	0.85130	0.984;0.997	T	0.82727	-0.0314	10	0.41790	T	0.15	-10.7768	15.6061	0.76672	0.0:0.0:0.0:1.0	.	52;52	Q05D32-2;Q05D32	.;CTSL2_HUMAN	N	52	ENSP00000260327:I52N;ENSP00000380000:I52N	ENSP00000260327:I52N	I	+	2	0	CTDSPL2	42538659	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.097000	0.63578	0.528000	0.53228	ATT		0.408	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1	NM_016396	
SPG11	80208	broad.mit.edu	37	15	44858184	44858184	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:44858184C>T	ENST00000261866.7	-	38	6883	c.6867G>A	c.(6865-6867)caG>caA	p.Q2289Q	SPG11_ENST00000535302.2_Silent_p.Q2176Q|SPG11_ENST00000427534.2_Intron	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2289					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.Q2289Q(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GCTGACAGTGCTGGGCCTGTC	0.527																																					p.Q2289Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6867A	15						.						49.0	43.0	45.0					15																	44858184		2198	4298	6496	42645476	SO:0001819	synonymous_variant	80208	exon38				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6867G>A	15.37:g.44858184C>T			42645476	NM_025137	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	CCDS10112.1																																																																																				0.527	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1		
SHC4	399694	broad.mit.edu	37	15	49118291	49118291	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:49118291G>A	ENST00000332408.4	-	12	2198	c.1770C>T	c.(1768-1770)gtC>gtT	p.V590V	SHC4_ENST00000537958.1_Silent_p.V304V|SHC4_ENST00000396535.3_Silent_p.V347V	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	590	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.V590V(1)		breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TAAGGTGGCCGACATTATCAA	0.338																																					p.V590V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1770T	15						.						166.0	145.0	152.0					15																	49118291		2197	4295	6492	46905583	SO:0001819	synonymous_variant	399694	exon12			AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1770C>T	15.37:g.49118291G>A			46905583	NM_203349	Q6UXQ3|Q8IYW3	Silent	SNP	ENST00000332408.4	37	CCDS10130.1																																																																																				0.338	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349	
TRPM7	54822	broad.mit.edu	37	15	50886719	50886719	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:50886719G>A	ENST00000313478.7	-	24	3663	c.3382C>T	c.(3382-3384)Ctg>Ttg	p.L1128L	TRPM7_ENST00000560955.1_Silent_p.L1128L	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1128					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.L1128L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GGAGGAGGCAGAACTGGTTTC	0.358																																					p.L1128L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3382T	15						.						117.0	112.0	113.0					15																	50886719		1844	4091	5935	48674011	SO:0001819	synonymous_variant	54822	exon24			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.3382C>T	15.37:g.50886719G>A			48674011	NM_017672	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Silent	SNP	ENST00000313478.7	37	CCDS42035.1																																																																																				0.358	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672	
UNC13C	440279	broad.mit.edu	37	15	54307641	54307641	+	Silent	SNP	A	A	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:54307641A>T	ENST00000260323.11	+	1	2541	c.2541A>T	c.(2539-2541)acA>acT	p.T847T	UNC13C_ENST00000537900.1_Silent_p.T847T|UNC13C_ENST00000545554.1_Silent_p.T847T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	847					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.T847T(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAAGTACCACACTTGACTCTG	0.423																																					p.T847T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2541T	15						.						73.0	72.0	72.0					15																	54307641		1936	4131	6067	52094933	SO:0001819	synonymous_variant	440279	exon1			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2541A>T	15.37:g.54307641A>T			52094933	NM_001080534	Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	CCDS45264.1																																																																																				0.423	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
TCF12	6938	broad.mit.edu	37	15	57554304	57554304	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:57554304C>T	ENST00000267811.5	+	16	1712	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W	TCF12_ENST00000559710.1_Missense_Mutation_p.R104W|TCF12_ENST00000343827.3_Missense_Mutation_p.R300W|TCF12_ENST00000438423.2_Missense_Mutation_p.R494W|TCF12_ENST00000333725.5_Missense_Mutation_p.R494W|TCF12_ENST00000559703.1_Missense_Mutation_p.R128W|TCF12_ENST00000543579.1_Missense_Mutation_p.R324W|TCF12_ENST00000452095.2_Missense_Mutation_p.R490W|TCF12_ENST00000537840.1_Missense_Mutation_p.R234W|TCF12_ENST00000557843.1_Missense_Mutation_p.R470W	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	470					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.R490W(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TGGAACTCATCGGGAAGACTC	0.348			T	TEC	extraskeletal myxoid chondrosarcoma																																p.R494W			Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1480T	15						.						71.0	67.0	68.0					15																	57554304		2192	4292	6484	55341596	SO:0001583	missense	6938	exon17			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1408C>T	15.37:g.57554304C>T	ENSP00000267811:p.Arg470Trp		55341596	NM_207037	Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	c	15.26	2.779675	0.49891	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.91	4.03	0.46877	.	0.160773	0.38897	N	0.001539	T	0.71702	0.3371	L	0.59436	1.845	0.41776	D	0.989796	D;B;D;D;D;D;D;D;B;B	0.89917	1.0;0.001;1.0;0.998;1.0;0.999;1.0;0.998;0.001;0.0	D;B;P;P;D;P;P;P;B;B	0.78314	0.912;0.0;0.794;0.836;0.991;0.827;0.899;0.649;0.0;0.0	T	0.71731	-0.4504	10	0.66056	D	0.02	-17.7865	7.4292	0.27118	0.135:0.7254:0.0:0.1395	.	490;104;324;234;490;522;324;300;470;494	B4DGI9;B4DZP2;B4DH96;B4E1W1;E9PGY0;F5H6Z6;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;.;.;HTF4_HUMAN;.	W	522;470;494;490;494;324;234;300;83	ENSP00000267811:R470W;ENSP00000388940:R494W;ENSP00000396881:R490W;ENSP00000331057:R494W;ENSP00000440017:R324W;ENSP00000444696:R234W;ENSP00000342459:R300W	ENSP00000267811:R470W	R	+	1	2	TCF12	55341596	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	4.655000	0.61476	0.834000	0.34852	0.655000	0.94253	CGG		0.348	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205	
ADAM10	102	broad.mit.edu	37	15	58933010	58933010	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:58933010G>A	ENST00000260408.3	-	8	1421	c.978C>T	c.(976-978)ggC>ggT	p.G326G	ADAM10_ENST00000402627.1_Silent_p.G25G|ADAM10_ENST00000396140.2_Silent_p.G25G|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	326	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.G326G(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		GACCAAGTACGCCATCATCAA	0.393																																					p.G326G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C978T	15						.						80.0	74.0	76.0					15																	58933010		2192	4292	6484	56720302	SO:0001819	synonymous_variant	102	exon8			AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.978C>T	15.37:g.58933010G>A			56720302	NM_001110	B4DU28|Q10742|Q92650	Silent	SNP	ENST00000260408.3	37	CCDS10167.1																																																																																				0.393	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110	
CILP	8483	broad.mit.edu	37	15	65497705	65497705	+	Missense_Mutation	SNP	C	C	T	rs143279369		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:65497705C>T	ENST00000261883.4	-	5	690	c.524G>A	c.(523-525)cGc>cAc	p.R175H		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	175	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.R175H(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CAAGCAAATGCGTGTGCGAGT	0.627																																					p.R175H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G524A	15						.	C	HIS/ARG	2,4400	4.2+/-10.8	0,2,2199	102.0	81.0	88.0		524	5.6	1.0	15	dbSNP_134	88	0,8598		0,0,4299	no	missense	CILP	NM_003613.3	29	0,2,6498	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	175/1185	65497705	2,12998	2201	4299	6500	63284758	SO:0001583	missense	8483	exon5			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.524G>A	15.37:g.65497705C>T	ENSP00000261883:p.Arg175His		63284758	NM_003613	B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890240	0.91889	4.54E-4	0.0	ENSG00000138615	ENST00000261883	T	0.65364	-0.15	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.86364	0.5915	H	0.96398	3.815	0.53005	D	0.99996	D	0.89917	1.0	D	0.91635	0.999	D	0.90406	0.4406	10	0.87932	D	0	0.6891	18.5236	0.90963	0.0:1.0:0.0:0.0	.	175	O75339	CILP1_HUMAN	H	175	ENSP00000261883:R175H	ENSP00000261883:R175H	R	-	2	0	CILP	63284758	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.429000	0.66495	2.635000	0.89317	0.650000	0.86243	CGC		0.627	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613	
PARP6	56965	broad.mit.edu	37	15	72558286	72558286	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:72558286T>C	ENST00000569795.1	-	5	815	c.128A>G	c.(127-129)gAc>gGc	p.D43G	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Missense_Mutation_p.D43G|PARP6_ENST00000287196.9_Missense_Mutation_p.D43G			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	43							NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.D43G(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GGCTTCAATGTCTGCATCAAG	0.512																																					p.D43G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A128G	15						.						88.0	82.0	84.0					15																	72558286		1943	4165	6108	70345340	SO:0001583	missense	56965	exon4			AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.128A>G	15.37:g.72558286T>C	ENSP00000456348:p.Asp43Gly		70345340	NM_020214	Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	37	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	T	28.4	4.912992	0.92178	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000336471	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.67627	0.2913	L	0.36672	1.1	0.54753	D	0.999983	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.995	T	0.70868	-0.4755	9	0.72032	D	0.01	-1.2729	14.5872	0.68335	0.0:0.0:0.0:1.0	.	43;43	Q0VDG0;Q2NL67	.;PARP6_HUMAN	G	43	.	ENSP00000260376:D43G	D	-	2	0	PARP6	70345340	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.982000	0.88131	2.044000	0.60594	0.533000	0.62120	GAC		0.512	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214	
EDC3	80153	broad.mit.edu	37	15	74963986	74963986	+	Silent	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:74963986A>G	ENST00000315127.4	-	3	475	c.294T>C	c.(292-294)aaT>aaC	p.N98N	EDC3_ENST00000426797.3_Silent_p.N98N|EDC3_ENST00000568176.1_Silent_p.N98N	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	98					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)	p.N98N(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TGCCTGTGCCATTCTGATTGA	0.517																																					p.N98N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T294C	15						.						113.0	103.0	106.0					15																	74963986		2197	4296	6493	72751039	SO:0001819	synonymous_variant	80153	exon4			BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"""yjeF domain containing (E.coli)"", ""LSM16 homolog (EDC3, S. cerevisiae)"", ""enhancer of mRNA decapping 3 homolog (S. cerevisiae)"""	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.294T>C	15.37:g.74963986A>G			72751039	NM_001142444	B3KPH0|D3DW61|Q9H797	Silent	SNP	ENST00000315127.4	37	CCDS10267.1																																																																																				0.517	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286399.1	NM_025083	
ULK3	25989	broad.mit.edu	37	15	75133824	75133824	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:75133824G>A	ENST00000440863.2	-	4	482	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	ULK3_ENST00000569437.1_Missense_Mutation_p.R131W|ULK3_ENST00000568667.1_Missense_Mutation_p.R142W	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	131	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.R131W(1)		breast(2)	2						GAGATATTCCGTTCATGCAGG	0.562																																					p.R131W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C391T	15						.						97.0	104.0	102.0					15																	75133824		2057	4194	6251	72920877	SO:0001583	missense	25989	exon4			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.391C>T	15.37:g.75133824G>A	ENSP00000400312:p.Arg131Trp		72920877	NM_001099436	B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Missense_Mutation	SNP	ENST00000440863.2	37	CCDS45305.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768219	0.69878	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	T	0.66995	-0.24	4.55	4.55	0.56014	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.289659	0.33650	N	0.004685	T	0.77465	0.4134	M	0.71581	2.175	0.33875	D	0.635385	D;D;D;D;D	0.76494	0.991;0.999;0.999;0.997;0.998	P;D;D;P;P	0.63033	0.86;0.91;0.91;0.892;0.804	D	0.84836	0.0805	10	0.72032	D	0.01	-5.3571	12.0239	0.53358	0.0:0.1745:0.8254:0.0	.	41;142;41;131;131	B4DEJ1;B4DFT0;B4DFS6;Q6PHR2;Q6PHR2-3	.;.;.;ULK3_HUMAN;.	W	131;142	ENSP00000400312:R131W	ENSP00000393658:R142W	R	-	1	2	ULK3	72920877	0.517000	0.26226	0.985000	0.45067	0.651000	0.38670	2.028000	0.41088	2.349000	0.79799	0.655000	0.94253	CGG		0.562	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	NM_015518	
MPI	4351	broad.mit.edu	37	15	75182874	75182874	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:75182874C>A	ENST00000352410.4	+	2	90	c.23C>A	c.(22-24)cCa>cAa	p.P8Q	MPI_ENST00000563422.1_Missense_Mutation_p.P8Q|MPI_ENST00000564003.1_Intron|MPI_ENST00000566377.1_Missense_Mutation_p.P8Q|MPI_ENST00000535694.1_Intron|MPI_ENST00000565576.1_Missense_Mutation_p.P8Q|MPI_ENST00000563786.1_5'UTR|MPI_ENST00000323744.6_Missense_Mutation_p.P8Q|MPI_ENST00000562606.1_Intron			P34949	MPI_HUMAN	mannose phosphate isomerase	8					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)	p.P8Q(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CTAGTATTCCCACTTTCCTGT	0.627																																					p.P8Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C23A	15						.						69.0	56.0	61.0					15																	75182874		2197	4295	6492	72969927	SO:0001583	missense	4351	exon2				CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.23C>A	15.37:g.75182874C>A	ENSP00000318318:p.Pro8Gln		72969927	NM_002435	A8K8K9|Q96AB0	Missense_Mutation	SNP	ENST00000352410.4	37	CCDS10272.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457211	0.43634	.	.	ENSG00000178802	ENST00000352410;ENST00000323744	D;D	0.95377	-3.69;-3.69	5.49	4.38	0.52667	Cupin, RmlC-type (1);	0.230018	0.45126	D	0.000396	D	0.91533	0.7326	L	0.37697	1.125	0.49389	D	0.999785	B;B;B	0.20459	0.045;0.013;0.03	B;B;B	0.29077	0.098;0.037;0.043	D	0.86574	0.1849	10	0.24483	T	0.36	.	10.3534	0.43950	0.0:0.833:0.0:0.167	.	8;8;8	B4DFC4;P34949-2;P34949	.;.;MPI_HUMAN	Q	8	ENSP00000318318:P8Q;ENSP00000318192:P8Q	ENSP00000318192:P8Q	P	+	2	0	MPI	72969927	0.999000	0.42202	0.994000	0.49952	0.823000	0.46562	4.599000	0.61076	2.583000	0.87209	0.561000	0.74099	CCA		0.627	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4		
PTPN9	5780	broad.mit.edu	37	15	75798052	75798052	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:75798052C>T	ENST00000306726.2	-	7	1444	c.932G>A	c.(931-933)cGt>cAt	p.R311H	PTPN9_ENST00000564970.1_5'UTR	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	311	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)	p.R311H(1)		central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTTCTCACGACGAATGTCTTC	0.473																																					p.R311H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G932A	15						.						152.0	137.0	142.0					15																	75798052		2197	4294	6491	73585107	SO:0001583	missense	5780	exon7				CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.932G>A	15.37:g.75798052C>T	ENSP00000303554:p.Arg311His		73585107	NM_002833	Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787353	0.90367	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	T	0.14266	2.52	5.61	5.61	0.85477	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.107752	0.64402	D	0.000007	T	0.37265	0.0997	M	0.85630	2.765	0.80722	D	1	D	0.69078	0.997	P	0.54629	0.757	T	0.30238	-0.9985	10	0.62326	D	0.03	.	18.6987	0.91613	0.0:1.0:0.0:0.0	.	311	P43378	PTN9_HUMAN	H	311;301	ENSP00000303554:R311H	ENSP00000303554:R311H	R	-	2	0	PTPN9	73585107	1.000000	0.71417	0.670000	0.29842	0.973000	0.67179	5.421000	0.66447	2.672000	0.90937	0.650000	0.86243	CGT		0.473	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1		
CEMIP	57214	broad.mit.edu	37	15	81172105	81172105	+	Missense_Mutation	SNP	G	G	A	rs199948256		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:81172105G>A	ENST00000394685.3	+	5	709	c.290G>A	c.(289-291)cGg>cAg	p.R97Q	KIAA1199_ENST00000220244.3_Missense_Mutation_p.R97Q|KIAA1199_ENST00000356249.5_Missense_Mutation_p.R97Q			Q8WUJ3	CEMIP_HUMAN		97	G8. {ECO:0000255|PROSITE- ProRule:PRU00817}.				hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.R97Q(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTGCGAACCCGGCACATCCTG	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22233	0.0		0.0	False		,,,				2504	0.0				p.R97Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G290A	15						.						89.0	75.0	80.0					15																	81172105		2203	4300	6503	78959160	SO:0001583	missense	57214	exon4																														ENST00000394685.3:c.290G>A	15.37:g.81172105G>A	ENSP00000378177:p.Arg97Gln		78959160	NM_018689	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091636	0.76756	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	D;D;D	0.88586	-2.4;-2.4;-2.4	6.03	6.03	0.97812	G8 domain (2);	0.067014	0.56097	D	0.000027	D	0.91891	0.7433	L	0.50847	1.595	0.40554	D	0.981147	D	0.71674	0.998	P	0.59546	0.859	D	0.89095	0.3485	10	0.25751	T	0.34	-38.3943	20.5666	0.99351	0.0:0.0:1.0:0.0	.	97	Q8WUJ3	K1199_HUMAN	Q	97	ENSP00000220244:R97Q;ENSP00000378177:R97Q;ENSP00000348583:R97Q	ENSP00000220244:R97Q	R	+	2	0	KIAA1199	78959160	1.000000	0.71417	0.979000	0.43373	0.152000	0.21847	5.500000	0.66943	2.854000	0.98071	0.655000	0.94253	CGG		0.512	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1		
CEMIP	57214	broad.mit.edu	37	15	81173368	81173368	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:81173368C>T	ENST00000394685.3	+	6	927	c.508C>T	c.(508-510)Cca>Tca	p.P170S	KIAA1199_ENST00000220244.3_Missense_Mutation_p.P170S|KIAA1199_ENST00000356249.5_Missense_Mutation_p.P170S			Q8WUJ3	CEMIP_HUMAN		170					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.P170S(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GACCCTTCACCCAGGTGGCAT	0.488																																					p.P170S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C508T	15						.						131.0	125.0	127.0					15																	81173368		2203	4300	6503	78960423	SO:0001583	missense	57214	exon5																														ENST00000394685.3:c.508C>T	15.37:g.81173368C>T	ENSP00000378177:p.Pro170Ser		78960423	NM_018689	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341767	0.24339	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.66099	-0.19;-0.19;-0.19	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	L	0.28115	0.83	0.80722	D	1	B	0.28512	0.214	B	0.40256	0.324	T	0.54057	-0.8350	10	0.30854	T	0.27	-15.9435	20.3697	0.98890	0.0:1.0:0.0:0.0	.	170	Q8WUJ3	K1199_HUMAN	S	170	ENSP00000220244:P170S;ENSP00000378177:P170S;ENSP00000348583:P170S	ENSP00000220244:P170S	P	+	1	0	KIAA1199	78960423	1.000000	0.71417	0.261000	0.24466	0.170000	0.22686	6.809000	0.75211	2.811000	0.96726	0.655000	0.94253	CCA		0.488	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1		
WHAMM	123720	broad.mit.edu	37	15	83499629	83499629	+	Silent	SNP	A	A	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:83499629A>T	ENST00000286760.4	+	9	2019	c.1920A>T	c.(1918-1920)ccA>ccT	p.P640P		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	640	Mediates actin nucleation. {ECO:0000269|PubMed:18614018}.|Pro-rich.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)	p.P640P(1)		endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						cactgccaccacctcctcctc	0.547																																					p.P640P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1920T	15						.						32.0	34.0	33.0					15																	83499629		1929	4107	6036	81296683	SO:0001819	synonymous_variant	123720	exon9			AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"""WAS protein homology region 2 domain containing 1"""	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.1920A>T	15.37:g.83499629A>T			81296683	NM_001080435	Q8N1J9	Silent	SNP	ENST00000286760.4	37	CCDS45333.1																																																																																				0.547	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418463.1		
ZNF592	9640	broad.mit.edu	37	15	85326762	85326762	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:85326762G>A	ENST00000560079.2	+	4	1144	c.856G>A	c.(856-858)Gca>Aca	p.A286T	ZNF592_ENST00000299927.3_Missense_Mutation_p.A286T	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	286					cell death (GO:0008219)|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.A286T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCTTGTGTGGCAGCCTTGGT	0.572																																					p.A286T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G856A	15						.						59.0	60.0	60.0					15																	85326762		2203	4299	6502	83127766	SO:0001583	missense	9640	exon4			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.856G>A	15.37:g.85326762G>A	ENSP00000452877:p.Ala286Thr		83127766	NM_014630	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968968	0.74131	.	.	ENSG00000166716	ENST00000299927	T	0.00672	5.89	5.87	5.87	0.94306	.	0.150715	0.64402	D	0.000015	T	0.02267	0.0070	L	0.36672	1.1	0.45390	D	0.998379	D	0.60575	0.988	P	0.58721	0.844	T	0.66412	-0.5930	10	0.66056	D	0.02	-15.3443	17.713	0.88327	0.0:0.0:1.0:0.0	.	286	Q92610	ZN592_HUMAN	T	286	ENSP00000299927:A286T	ENSP00000299927:A286T	A	+	1	0	ZNF592	83127766	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	7.460000	0.80816	2.780000	0.95670	0.655000	0.94253	GCA		0.572	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630	
NTRK3	4916	broad.mit.edu	37	15	88472523	88472523	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:88472523G>A	ENST00000360948.2	-	16	2193	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*	NTRK3_ENST00000357724.2_Nonsense_Mutation_p.R670*|NTRK3_ENST00000558676.1_Nonsense_Mutation_p.R670*|NTRK3_ENST00000355254.2_Nonsense_Mutation_p.R678*|NTRK3_ENST00000394480.2_Nonsense_Mutation_p.R678*|NTRK3_ENST00000557856.1_Nonsense_Mutation_p.R670*|NTRK3_ENST00000542733.2_Nonsense_Mutation_p.R580*	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	678	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> Q (in dbSNP:rs55890138). {ECO:0000269|PubMed:17344846}.		activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R678*(2)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCCAGGTCTCGGTGCACAAAG	0.572			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																											p.R678X			Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	NTRK3,breast,NS,Substitution - Missense,+1 	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2032T	15						.						91.0	82.0	85.0					15																	88472523		2201	4299	6500	86273527	SO:0001587	stop_gained	4916	exon16			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2032C>T	15.37:g.88472523G>A	ENSP00000354207:p.Arg678*		86273527	NM_002530	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Nonsense_Mutation	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	37	6.329519	0.97480	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733	.	.	.	5.16	2.12	0.27331	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7034	0.62622	0.0:0.0:0.4521:0.5479	.	.	.	.	X	678;678;670;678;580	.	ENSP00000347397:R678X	R	-	1	2	NTRK3	86273527	1.000000	0.71417	0.999000	0.59377	0.894000	0.52154	1.367000	0.34204	0.156000	0.19299	-0.181000	0.13052	CGA		0.572	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding			
RLBP1	6017	broad.mit.edu	37	15	89760442	89760442	+	Silent	SNP	C	C	T	rs557154377	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:89760442C>T	ENST00000268125.5	-	5	694	c.255G>A	c.(253-255)gcG>gcA	p.A85A		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	85					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	cell body (GO:0044297)|cytosol (GO:0005829)	11-cis retinal binding (GO:0005502)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.A85A(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	GCACCCTCTCCGCCACGGCCA	0.662													C|||	2	0.000399361	0.0	0.0	5008	,	,		16871	0.0		0.0	False		,,,				2504	0.002				p.A85A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G255A	15						.						56.0	55.0	56.0					15																	89760442		2200	4299	6499	87561446	SO:0001819	synonymous_variant	6017	exon5			BC004199	CCDS32324.1	15q26.1	2007-07-16	2001-11-28			ENSG00000140522			10024	protein-coding gene	gene with protein product		180090	"""retinaldehyde-binding protein 1"""			1733864, 9326942	Standard	NM_000326		Approved	CRALBP	uc002bnl.3	P12271		ENST00000268125.5:c.255G>A	15.37:g.89760442C>T			87561446	NM_000326	B2R667	Silent	SNP	ENST00000268125.5	37	CCDS32324.1																																																																																				0.662	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421135.1	NM_000326	
TICRR	90381	broad.mit.edu	37	15	90146032	90146032	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:90146032A>C	ENST00000268138.7	+	13	2678	c.2573A>C	c.(2572-2574)aAt>aCt	p.N858T	TICRR_ENST00000560985.1_Missense_Mutation_p.N857T			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	858					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.N858T(1)									AAAAGGAAAAATGCATTAATA	0.264																																					p.N858T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2573C	15						.						27.0	25.0	26.0					15																	90146032		1785	4060	5845	87947036	SO:0001583	missense	90381	exon13			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.2573A>C	15.37:g.90146032A>C	ENSP00000268138:p.Asn858Thr		87947036	NM_152259	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	A	9.244	1.039037	0.19669	.	.	ENSG00000140534	ENST00000268138	T	0.14893	2.47	5.56	1.96	0.26148	.	0.205916	0.51477	D	0.000099	T	0.10937	0.0267	L	0.43923	1.385	0.27592	N	0.949247	B	0.15141	0.012	B	0.17098	0.017	T	0.29671	-1.0004	10	0.18710	T	0.47	-19.6497	2.6978	0.05140	0.631:0.1254:0.1231:0.1204	.	858	Q7Z2Z1	TICRR_HUMAN	T	858	ENSP00000268138:N858T	ENSP00000268138:N858T	N	+	2	0	C15orf42	87947036	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	1.152000	0.31663	0.131000	0.18576	-1.007000	0.02485	AAT		0.264	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259	
PLIN1	5346	broad.mit.edu	37	15	90214736	90214736	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:90214736C>T	ENST00000300055.5	-	4	475	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	PLIN1_ENST00000430628.2_Missense_Mutation_p.A104T	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	104					lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)	lipid binding (GO:0008289)	p.A104T(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						TACTGGAGGGCGGGGATCTTT	0.642																																					p.A104T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G310A	15						.						24.0	23.0	23.0					15																	90214736		2195	4296	6491	88015740	SO:0001583	missense	5346	exon4			AB005293	CCDS10353.1	15q26	2009-08-12	2009-08-12	2009-08-12	ENSG00000166819	ENSG00000166819		"""Perilipins"""	9076	protein-coding gene	gene with protein product		170290	"""perilipin"""	PLIN		9521880, 19638644	Standard	NM_002666		Approved		uc010upx.1	O60240	OTTHUMG00000149813	ENST00000300055.5:c.310G>A	15.37:g.90214736C>T	ENSP00000300055:p.Ala104Thr		88015740	NM_002666	Q8N5Y6	Missense_Mutation	SNP	ENST00000300055.5	37	CCDS10353.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097190	0.94197	.	.	ENSG00000166819	ENST00000300055;ENST00000430628	T;T	0.06218	3.33;3.33	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000006	T	0.27594	0.0678	M	0.77103	2.36	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	T	0.00320	-1.1820	10	0.46703	T	0.11	-25.5089	18.1075	0.89525	0.0:1.0:0.0:0.0	.	104	O60240	PLIN1_HUMAN	T	104	ENSP00000300055:A104T;ENSP00000402167:A104T	ENSP00000300055:A104T	A	-	1	0	PLIN1	88015740	0.998000	0.40836	0.978000	0.43139	0.993000	0.82548	4.260000	0.58835	2.630000	0.89119	0.655000	0.94253	GCC		0.642	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313424.2	NM_002666	
IDH2	3418	broad.mit.edu	37	15	90628595	90628595	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:90628595G>A	ENST00000330062.3	-	8	1105	c.992C>T	c.(991-993)aCg>aTg	p.T331M	IDH2_ENST00000559482.1_Missense_Mutation_p.T222M|IDH2_ENST00000539790.1_Missense_Mutation_p.T201M|IDH2_ENST00000540499.2_Missense_Mutation_p.T279M	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	331					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.T331M(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CAGGACGGACGTCATCAGGCC	0.637			M		GBM																																p.T331M			Dom	yes		15	15q26.1	3418	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C992T	15						.						56.0	44.0	48.0					15																	90628595		2178	4264	6442	88429599	SO:0001583	missense	3418	exon8				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.992C>T	15.37:g.90628595G>A	ENSP00000331897:p.Thr331Met		88429599	NM_002168	B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611859	0.66558	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	T;T;T	0.78364	-1.17;-1.17;-1.17	5.54	5.54	0.83059	Isopropylmalate dehydrogenase-like domain (2);	0.095779	0.64402	D	0.000001	D	0.92750	0.7695	H	0.98048	4.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94799	0.7969	10	0.87932	D	0	.	17.0271	0.86450	0.0:0.0:1.0:0.0	.	331;331	Q53GL5;P48735	.;IDHP_HUMAN	M	331;201;279	ENSP00000331897:T331M;ENSP00000438457:T201M;ENSP00000446147:T279M	ENSP00000331897:T331M	T	-	2	0	IDH2	88429599	1.000000	0.71417	0.971000	0.41717	0.062000	0.15995	9.601000	0.98297	2.884000	0.98904	0.655000	0.94253	ACG		0.637	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1		
IGF1R	3480	broad.mit.edu	37	15	99251018	99251018	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:99251018G>A	ENST00000268035.6	+	2	933	c.322G>A	c.(322-324)Ggc>Agc	p.G108S	IGF1R_ENST00000558762.1_Missense_Mutation_p.G108S	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	108					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.G108S(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GGTCATCCGCGGCTGGAAACT	0.552																																					p.G108S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G322A	15						.						67.0	57.0	61.0					15																	99251018		2197	4297	6494	97068541	SO:0001583	missense	3480	exon2			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.322G>A	15.37:g.99251018G>A	ENSP00000268035:p.Gly108Ser		97068541	NM_000875	B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	32	5.161878	0.94727	.	.	ENSG00000140443	ENST00000268035	D	0.87029	-2.2	5.36	5.36	0.76844	EGF receptor, L domain (1);	0.000000	0.56097	D	0.000035	D	0.96182	0.8755	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97483	1.0048	10	0.87932	D	0	.	18.4346	0.90640	0.0:0.0:1.0:0.0	.	108;108	C9J5X1;P08069	.;IGF1R_HUMAN	S	108	ENSP00000268035:G108S	ENSP00000268035:G108S	G	+	1	0	IGF1R	97068541	1.000000	0.71417	0.997000	0.53966	0.859000	0.49053	9.667000	0.98616	2.659000	0.90383	0.563000	0.77884	GGC		0.552	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	
SPRED1	161742	broad.mit.edu	37	15	38614525	38614525	+	Frame_Shift_Del	DEL	G	G	-	rs7182445	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:38614525delG	ENST00000299084.4	+	3	1151	c.291delG	c.(289-291)aagfs	p.K98fs	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	98	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TTGATGACAAGAAGTTTGGTC	0.383									Legius syndrome																												p.K97fs	Melanoma(196;2146 2959 7698 16532)											.	.	0			c.291delG	15						.						143.0	144.0	144.0					15																	38614525		2200	4297	6497	36401817	SO:0001589	frameshift_variant	161742	exon3	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.291delG	15.37:g.38614525delG	ENSP00000299084:p.Lys98fs		36401817	NM_152594	B2RPJ8|Q05D53|Q8N256	Frame_Shift_Del	DEL	ENST00000299084.4	37	CCDS32193.1																																																																																				0.383	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1		
ZSCAN29	146050	broad.mit.edu	37	15	43656160	43656160	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:43656160delG	ENST00000396976.2	-	4	1777	c.1643delC	c.(1642-1644)ccafs	p.P548fs	ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	548					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P548fs*5(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GACAGCCCCTGGGGGTATCTC	0.483																																					p.P548fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1643delC	15						.						89.0	77.0	81.0					15																	43656160		2201	4299	6500	41443452	SO:0001589	frameshift_variant	146050	exon4			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.1643delC	15.37:g.43656160delG	ENSP00000380174:p.Pro548fs		41443452	NM_152455	B3KVB9|Q32M75|Q32M76|Q8NA40	Frame_Shift_Del	DEL	ENST00000396976.2	37	CCDS10095.2																																																																																				0.483	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455	
ZNF609	23060	broad.mit.edu	37	15	64967247	64967247	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:64967247delA	ENST00000326648.3	+	4	2322	c.2194delA	c.(2194-2196)aaafs	p.K735fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	735	Poly-Lys.					nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.K734fs*12(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGAAAGACAAAAAAAAGAA	0.488																																					p.K732fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2194delA	15						.						98.0	109.0	105.0					15																	64967247		2203	4299	6502	62754300	SO:0001589	frameshift_variant	23060	exon4			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2194delA	15.37:g.64967247delA	ENSP00000316527:p.Lys735fs		62754300	NM_015042	Q0D2I2	Frame_Shift_Del	DEL	ENST00000326648.3	37	CCDS32270.1																																																																																				0.488	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833	
MEX3B	84206	broad.mit.edu	37	15	82335970	82335970	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:82335970delC	ENST00000329713.4	-	2	1676	c.1241delG	c.(1240-1242)ggtfs	p.G415fs	MEX3B_ENST00000558133.1_3'UTR|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	415					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G414fs*113(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						ACTGGCGCCACCCCCGGGGAA	0.667																																					p.G414fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1241delG	15						.						46.0	49.0	48.0					15																	82335970		2188	4281	6469	80123025	SO:0001589	frameshift_variant	84206	exon2			AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.1241delG	15.37:g.82335970delC	ENSP00000329918:p.Gly415fs		80123025	NM_032246	Q4G0W1|Q8IVG2|Q9H0J0	Frame_Shift_Del	DEL	ENST00000329713.4	37	CCDS10319.1																																																																																				0.667	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645	
LRRK1	79705	broad.mit.edu	37	15	101589853	101589853	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr15:101589853G>A	ENST00000388948.3	+	23	3663	c.3304G>A	c.(3304-3306)Gaa>Aaa	p.E1102K	LRRK1_ENST00000284395.5_Missense_Mutation_p.E1099K|RP11-505E24.2_ENST00000559857.1_RNA|RP11-505E24.3_ENST00000558979.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.E1114K(1)|p.E1102K(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTGCAGTGTGGAATCTTCCGA	0.527																																					p.E1102K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3304A	15						.						84.0	88.0	87.0					15																	101589853		1886	4113	5999	99407376	SO:0001583	missense	79705	exon23			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3304G>A	15.37:g.101589853G>A	ENSP00000373600:p.Glu1102Lys		99407376	NM_024652		Missense_Mutation	SNP	ENST00000388948.3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314911	0.81358	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.74209	-0.79;-0.82	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.82815	0.5119	L	0.49350	1.555	0.58432	D	0.999999	D	0.76494	0.999	D	0.65987	0.94	T	0.82273	-0.0539	10	0.46703	T	0.11	.	19.3098	0.94182	0.0:0.0:1.0:0.0	.	1102	Q38SD2	LRRK1_HUMAN	K	1102;1099	ENSP00000373600:E1102K;ENSP00000284395:E1099K	ENSP00000284395:E1099K	E	+	1	0	LRRK1	99407376	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	9.634000	0.98435	2.573000	0.86826	0.462000	0.41574	GAA		0.527	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
CIITA	4261	broad.mit.edu	37	16	10989621	10989621	+	Splice_Site	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:10989621G>A	ENST00000324288.8	+	3	428	c.295G>A	c.(295-297)Gcg>Acg	p.A99T	CIITA_ENST00000381835.5_Splice_Site_p.A99T|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	99	Asp/Glu-rich (acidic).|Required for acetyltransferase activity.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)	p.A99T(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TGCCAATATCGGTGAGGAAGC	0.522			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																p.A99T			Dom	yes		16	16p13	4261	"""class II, major histocompatibility complex, transactivator"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G295A	16						.						85.0	76.0	79.0					16																	10989621		2197	4300	6497	10897122	SO:0001630	splice_region_variant	4261	exon3			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.295+1G>A	16.37:g.10989621G>A			10897122	NM_000246	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062048	0.55432	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	D;T	0.87029	-2.2;0.3	4.48	4.48	0.54585	.	0.000000	0.42821	U	0.000641	D	0.90992	0.7167	L	0.55990	1.75	0.29877	N	0.826371	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.79108	0.989;0.992;0.923;0.923;0.965;0.964	D	0.87657	0.2532	10	0.87932	D	0	.	13.0313	0.58842	0.0:0.0:1.0:0.0	.	99;99;99;99;99;99	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	T	99	ENSP00000316328:A99T;ENSP00000371257:A99T	ENSP00000316328:A99T	A	+	1	0	CIITA	10897122	1.000000	0.71417	0.999000	0.59377	0.595000	0.36748	4.262000	0.58847	2.217000	0.71921	0.655000	0.94253	GCG		0.522	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246	Missense_Mutation
CACNA1H	8912	broad.mit.edu	37	16	1265065	1265065	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:1265065C>T	ENST00000348261.5	+	28	5271	c.5023C>T	c.(5023-5025)Cgg>Tgg	p.R1675W	CACNA1H_ENST00000565831.1_Missense_Mutation_p.R1669W|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R1669W	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1675					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.R1669W(1)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TGGGTTCCGTCGGTTCTTCAA	0.622																																					p.R1675W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5023T	16						.						158.0	153.0	155.0					16																	1265065		2033	4163	6196	1205066	SO:0001583	missense	8912	exon28			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.5023C>T	16.37:g.1265065C>T	ENSP00000334198:p.Arg1675Trp		1205066	NM_021098	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208194	0.39003	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98602	-5.02;-5.02	4.04	-3.53	0.04667	Ion transport (1);	0.052524	0.64402	D	0.000002	D	0.98868	0.9617	M	0.89534	3.04	0.38500	D	0.948194	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.993;0.985;0.992;0.995	D	0.98850	1.0758	10	0.87932	D	0	.	16.9921	0.86356	0.8616:0.1384:0.0:0.0	.	421;410;416;1669;1675	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	W	1675;1669	ENSP00000334198:R1675W;ENSP00000351401:R1669W	ENSP00000334198:R1675W	R	+	1	2	CACNA1H	1205066	0.009000	0.17119	0.954000	0.39281	0.579000	0.36224	0.077000	0.14738	-0.700000	0.05070	0.491000	0.48974	CGG		0.622	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407	
TPSD1	23430	broad.mit.edu	37	16	1306865	1306865	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:1306865C>T	ENST00000211076.3	+	3	470	c.322C>T	c.(322-324)Ctg>Ttg	p.L108L	RP11-616M22.5_ENST00000566997.1_RNA|TPSD1_ENST00000397534.2_Silent_p.L101L	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	108	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.L108L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CCAGGACCAGCTGCTGCCGGT	0.642																																					p.L108L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C322T	16						.						52.0	57.0	55.0					16																	1306865		2199	4298	6497	1246866	SO:0001819	synonymous_variant	23430	exon3			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.322C>T	16.37:g.1306865C>T			1246866	NM_012217	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	ENST00000211076.3	37	CCDS10432.1																																																																																				0.642	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2		
IFT140	9742	broad.mit.edu	37	16	1608112	1608112	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:1608112G>A	ENST00000426508.2	-	19	2586	c.2223C>T	c.(2221-2223)gaC>gaT	p.D741D	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	741					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.D741D(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCTCCACCTCGTCTTCTCTGT	0.562																																					p.D741D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2223T	16						.						134.0	130.0	131.0					16																	1608112		2199	4300	6499	1548113	SO:0001819	synonymous_variant	9742	exon19			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2223C>T	16.37:g.1608112G>A			1548113	NM_014714	A2A2A8|D3DU75|O60332|Q9UG52	De_novo_Start_OutOfFrame	SNP	ENST00000426508.2	37	CCDS10439.1																																																																																				0.562	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714	
CLEC16A	23274	broad.mit.edu	37	16	11136132	11136132	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:11136132C>T	ENST00000409790.1	+	15	1912	c.1682C>T	c.(1681-1683)aCg>aTg	p.T561M	CLEC16A_ENST00000409552.3_Missense_Mutation_p.T543M|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.T561M(1)|p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CGGCTGGCGACGCTGGAGCTG	0.607																																					p.T561M												.	.	2	Substitution - Missense(1)|Whole gene deletion(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.C1682T	16						.						29.0	34.0	32.0					16																	11136132		2140	4242	6382	11043633	SO:0001583	missense	23274	exon14			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1682C>T	16.37:g.11136132C>T	ENSP00000387122:p.Thr561Met		11043633	NM_015226		Missense_Mutation	SNP	ENST00000409790.1	37	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922058	0.92319	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.65178	-0.14	5.47	5.47	0.80525	.	0.048241	0.85682	D	0.000000	T	0.76033	0.3931	M	0.81497	2.545	0.80722	D	1	D;D	0.69078	0.997;0.985	P;P	0.55161	0.77;0.522	T	0.80204	-0.1479	10	0.87932	D	0	-13.9417	16.8128	0.85725	0.0:1.0:0.0:0.0	.	561;543	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	M	561;561;543	ENSP00000387122:T561M	ENSP00000386495:T543M	T	+	2	0	CLEC16A	11043633	1.000000	0.71417	0.845000	0.33349	0.972000	0.66771	6.908000	0.75730	2.571000	0.86741	0.561000	0.74099	ACG		0.607	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226	
ABCC1	4363	broad.mit.edu	37	16	16215990	16215990	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:16215990C>T	ENST00000399410.3	+	24	3724	c.3549C>T	c.(3547-3549)gaC>gaT	p.D1183D	ABCC1_ENST00000346370.5_Silent_p.D1127D|ABCC1_ENST00000349029.5_Silent_p.D1068D|ABCC1_ENST00000399408.2_Silent_p.D1193D|ABCC1_ENST00000351154.5_Silent_p.D1124D|ABCC1_ENST00000345148.5_Silent_p.D1183D	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1183	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.D1183D(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	TGAAGGTGGACGAGAACCAGA	0.597																																					p.D1124D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3372T	16						.						56.0	64.0	61.0					16																	16215990		2170	4277	6447	16123491	SO:0001819	synonymous_variant	4363	exon23			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3549C>T	16.37:g.16215990C>T			16123491	NM_019862	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	CCDS42122.1																																																																																				0.597	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996	
RPL3L	6123	broad.mit.edu	37	16	2002899	2002899	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:2002899C>T	ENST00000268661.7	-	3	435	c.341G>A	c.(340-342)tGc>tAc	p.C114Y	RPL3L_ENST00000566484.1_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	114					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.C114Y(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TCGGCGCCGGCACTCATCACT	0.632																																					p.C114Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G341A	16						.						79.0	77.0	78.0					16																	2002899		2199	4300	6499	1942900	SO:0001583	missense	6123	exon3			U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.341G>A	16.37:g.2002899C>T	ENSP00000268661:p.Cys114Tyr		1942900	NM_005061		Missense_Mutation	SNP	ENST00000268661.7	37	CCDS10450.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.603779	0.66445	.	.	ENSG00000140986	ENST00000268661	T	0.22134	1.97	5.28	5.28	0.74379	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67768	-0.5585	10	0.87932	D	0	-11.8952	17.8999	0.88900	0.0:1.0:0.0:0.0	.	114	Q92901	RL3L_HUMAN	Y	114	ENSP00000268661:C114Y	ENSP00000268661:C114Y	C	-	2	0	RPL3L	1942900	1.000000	0.71417	0.999000	0.59377	0.034000	0.12701	7.426000	0.80270	2.479000	0.83701	0.609000	0.83330	TGC		0.632	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061	
SLC9A3R2	9351	broad.mit.edu	37	16	2090161	2090161	+	IGR	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:2090161C>T	ENST00000424542.2	+	0	2194				NTHL1_ENST00000562951.1_5'UTR|NTHL1_ENST00000219066.1_Missense_Mutation_p.R263H	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2						negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)	p.R263H(1)		central_nervous_system(1)|endometrium(1)	2						CAGGGCGGCGCGGGTCTCCTC	0.647																																					p.R263H	Ovarian(69;105 1552 17724 23473)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G788A	16						.						155.0	153.0	153.0					16																	2090161		2198	4300	6498	2030162	SO:0001628	intergenic_variant	4913	exon5			AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"""			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956		16.37:g.2090161C>T			2030162	NM_002528	D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Missense_Mutation	SNP	ENST00000424542.2	37	CCDS45382.1	.	.	.	.	.	.	.	.	.	.	c	14.93	2.683163	0.47991	.	.	ENSG00000065057	ENST00000219066	D	0.86769	-2.17	4.45	3.48	0.39840	HhH-GPD domain (2);DNA glycosylase (1);Helix-turn-helix, base-excision DNA repair, C-terminal (1);	0.108147	0.64402	D	0.000004	D	0.94604	0.8261	M	0.93550	3.43	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95055	0.8190	10	0.87932	D	0	-18.996	12.727	0.57176	0.1659:0.8341:0.0:0.0	.	263;263	E5KTI5;P78549	.;NTHL1_HUMAN	H	263	ENSP00000219066:R263H	ENSP00000219066:R263H	R	-	2	0	NTHL1	2030162	0.999000	0.42202	0.016000	0.15963	0.001000	0.01503	4.344000	0.59354	0.846000	0.35142	-0.745000	0.03516	CGC		0.647	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434448.1		
ABCC6	368	broad.mit.edu	37	16	16248569	16248569	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:16248569A>G	ENST00000205557.7	-	29	4153	c.4124T>C	c.(4123-4125)cTg>cCg	p.L1375P		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1375	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.L1375P(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CACCGTCTCCAGGGCTGCCCA	0.662																																					p.L1375P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4124C	16						.						33.0	29.0	30.0					16																	16248569		2197	4300	6497	16156070	SO:0001583	missense	368	exon29			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.4124T>C	16.37:g.16248569A>G	ENSP00000205557:p.Leu1375Pro		16156070	NM_001171	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.500030	0.64298	.	.	ENSG00000091262	ENST00000205557;ENST00000205558	D	0.91686	-2.89	4.59	4.59	0.56863	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.36778	U	0.002409	D	0.97508	0.9184	H	0.98068	4.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98554	1.0638	10	0.72032	D	0.01	.	13.6814	0.62487	1.0:0.0:0.0:0.0	.	1375;1375	O95255;A8Y988	MRP6_HUMAN;.	P	1375;313	ENSP00000205557:L1375P	ENSP00000205557:L1375P	L	-	2	0	ABCC6	16156070	1.000000	0.71417	0.590000	0.28732	0.524000	0.34500	9.256000	0.95535	1.708000	0.51301	0.381000	0.24937	CTG		0.662	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2		
CRYM	1428	broad.mit.edu	37	16	21278912	21278912	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:21278912C>T	ENST00000219599.3	-	7	901	c.636G>A	c.(634-636)ttG>ttA	p.L212L	CRYM_ENST00000543948.1_Silent_p.L212L|CRYM_ENST00000396023.2_Silent_p.L212L|CRYM_ENST00000415987.2_Silent_p.L170L	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	212					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sensory perception of sound (GO:0007605)|thyroid hormone metabolic process (GO:0042403)|thyroid hormone transport (GO:0070327)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|thiomorpholine-carboxylate dehydrogenase activity (GO:0047127)|thyroid hormone binding (GO:0070324)|transcription corepressor activity (GO:0003714)	p.L212L(1)		large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)		ATTCACCAAACAAAATGGGCT	0.552																																					p.L170L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G510A	16						.						125.0	101.0	109.0					16																	21278912		2199	4300	6499	21186413	SO:0001819	synonymous_variant	1428	exon6				CCDS10597.1	16p12.2	2013-02-14			ENSG00000103316	ENSG00000103316	1.5.1.25		2418	protein-coding gene	gene with protein product	"""thiomorpholine-carboxylate dehydrogenase"""	123740				1478656, 21332720	Standard	NM_001014444		Approved	DFNA40	uc002dim.3	Q14894	OTTHUMG00000090707	ENST00000219599.3:c.636G>A	16.37:g.21278912C>T			21186413	NM_001014444	D5MNX0|Q5HYB7	Silent	SNP	ENST00000219599.3	37	CCDS10597.1																																																																																				0.552	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207398.1		
PRKCB	5579	broad.mit.edu	37	16	24196837	24196837	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:24196837C>T	ENST00000321728.7	+	15	1846	c.1671C>T	c.(1669-1671)aaC>aaT	p.N557N	PRKCB_ENST00000303531.7_Silent_p.N557N	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	557	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.N557N(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TGGAACACAACGTAGCCTATC	0.502																																					p.N557N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1671T	16						.						155.0	126.0	136.0					16																	24196837		2197	4300	6497	24104338	SO:0001819	synonymous_variant	5579	exon15			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1671C>T	16.37:g.24196837C>T			24104338	NM_212535	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	CCDS10618.1																																																																																				0.502	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	
TNRC6A	27327	broad.mit.edu	37	16	24800858	24800858	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:24800858A>G	ENST00000395799.3	+	6	1024	c.895A>G	c.(895-897)Agc>Ggc	p.S299G	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S299G	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	299	Interaction with argonaute family proteins.|Ser-rich.|Sufficient for interaction with AGO1, AGO3 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S299G(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGTAGTTGGTAGCAGCAGCAA	0.478																																					p.S299G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A895G	16						.						82.0	78.0	79.0					16																	24800858		2197	4300	6497	24708359	SO:0001583	missense	27327	exon6			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.895A>G	16.37:g.24800858A>G	ENSP00000379144:p.Ser299Gly		24708359	NM_014494	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	A	8.013	0.758025	0.15846	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.12255	2.7;2.71	5.71	2.1	0.27182	.	0.298433	0.41001	N	0.000967	T	0.11793	0.0287	L	0.46157	1.445	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.10800	-1.0614	10	0.35671	T	0.21	-1.007	9.0029	0.36092	0.7728:0.0:0.2272:0.0	.	46;299;299	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	G	299	ENSP00000326900:S299G;ENSP00000379144:S299G	ENSP00000326900:S299G	S	+	1	0	TNRC6A	24708359	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.556000	0.53734	0.081000	0.16988	0.450000	0.29827	AGC		0.478	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847	
GTF3C1	2975	broad.mit.edu	37	16	27556754	27556754	+	Silent	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:27556754T>C	ENST00000356183.4	-	2	327	c.312A>G	c.(310-312)ttA>ttG	p.L104L	GTF3C1_ENST00000561623.1_Silent_p.L104L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	104					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)	p.L104L(1)		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						CCTTATTCTCTAAGATCATAT	0.448																																					p.L104L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A312G	16						.						137.0	118.0	124.0					16																	27556754		2197	4300	6497	27464255	SO:0001819	synonymous_variant	2975	exon2			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.312A>G	16.37:g.27556754T>C			27464255	NM_001520	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	CCDS32414.1																																																																																				0.448	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520	
SEZ6L2	26470	broad.mit.edu	37	16	29883830	29883830	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:29883830G>A	ENST00000308713.5	-	15	3033	c.2506C>T	c.(2506-2508)Cca>Tca	p.P836S	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.P779S|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.P805S|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.P735S	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	836					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.P779T(1)|p.P836S(1)|p.P836T(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCCGTGATGGATCTGTGGTC	0.632																																					p.P735S												.	.	3	Substitution - Missense(3)	cervix(2)|large_intestine(1)	c.C2203T	16						.						70.0	79.0	76.0					16																	29883830		2197	4300	6497	29791331	SO:0001583	missense	26470	exon14			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2506C>T	16.37:g.29883830G>A	ENSP00000312550:p.Pro836Ser		29791331	NM_001114100	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012494	0.35511	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.29397	1.6;1.67;1.57;1.57	5.26	4.3	0.51218	.	0.124368	0.36740	N	0.002429	T	0.39937	0.1097	L	0.34521	1.04	0.47737	D	0.999506	B;D;D;D;P;D	0.76494	0.178;0.976;0.976;0.996;0.941;0.999	B;P;P;P;B;P	0.59546	0.051;0.541;0.541;0.805;0.444;0.859	T	0.19679	-1.0298	10	0.46703	T	0.11	.	14.8027	0.69926	0.0:0.1454:0.8546:0.0	.	805;849;735;766;836;779	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	S	779;836;735;805	ENSP00000310206:P779S;ENSP00000312550:P836S;ENSP00000319215:P735S;ENSP00000439412:P805S	ENSP00000312550:P836S	P	-	1	0	SEZ6L2	29791331	1.000000	0.71417	0.970000	0.41538	0.917000	0.54804	2.642000	0.46596	1.212000	0.43366	0.655000	0.94253	CCA		0.632	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410	
CLDN9	9080	broad.mit.edu	37	16	3063473	3063473	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:3063473G>A	ENST00000445369.2	+	1	1017	c.110G>A	c.(109-111)gGc>gAc	p.G37D		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	37					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.G37D(1)		endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						GCCTTCATCGGCAACAGCATC	0.652																																					p.G37D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G110A	16						.						127.0	101.0	110.0					16																	3063473		2198	4300	6498	3003474	SO:0001583	missense	9080	exon1			AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"""Claudins"""	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.110G>A	16.37:g.3063473G>A	ENSP00000398017:p.Gly37Asp		3003474	NM_020982		Missense_Mutation	SNP	ENST00000445369.2	37	CCDS10487.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989874	0.74589	.	.	ENSG00000213937	ENST00000445369	D	0.90069	-2.61	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.91918	0.7441	M	0.85777	2.775	0.80722	D	1	P	0.37038	0.579	P	0.44772	0.46	D	0.92222	0.5785	10	0.48119	T	0.1	.	15.3639	0.74503	0.0:0.0:1.0:0.0	.	37	O95484	CLD9_HUMAN	D	37	ENSP00000398017:G37D	ENSP00000398017:G37D	G	+	2	0	CLDN9	3003474	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.624000	0.61254	2.485000	0.83878	0.591000	0.81541	GGC		0.652	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250989.1	NM_020982	
TAOK2	9344	broad.mit.edu	37	16	29990778	29990778	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:29990778T>C	ENST00000308893.4	+	8	1647	c.604T>C	c.(604-606)Tac>Cac	p.Y202H	TAOK2_ENST00000279394.3_Missense_Mutation_p.Y202H|TAOK2_ENST00000543033.1_Missense_Mutation_p.Y202H|TAOK2_ENST00000416441.2_5'Flank	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	202	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)	p.Y202H(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TGAGGGGCAGTACGATGGCAA	0.547																																					p.Y202H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T604C	16						.						188.0	140.0	156.0					16																	29990778		2197	4300	6497	29898279	SO:0001583	missense	9344	exon8			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.604T>C	16.37:g.29990778T>C	ENSP00000310094:p.Tyr202His		29898279	NM_004783	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.213984	0.79352	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.30182	1.54;1.54;1.54	5.5	5.5	0.81552	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	0.61986	0.2391	M	0.89478	3.035	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	0.69412	-0.5152	9	.	.	.	.	14.6039	0.68463	0.0:0.0:0.0:1.0	.	386;202;202;202	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	H	202	ENSP00000310094:Y202H;ENSP00000440336:Y202H;ENSP00000279394:Y202H	.	Y	+	1	0	TAOK2	29898279	1.000000	0.71417	0.996000	0.52242	0.905000	0.53344	8.040000	0.89188	2.086000	0.62901	0.383000	0.25322	TAC		0.547	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151	
CORO1A	11151	broad.mit.edu	37	16	30199718	30199718	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:30199718G>A	ENST00000219150.5	+	10	1407	c.1102G>A	c.(1102-1104)Gca>Aca	p.A368T	CORO1A_ENST00000570045.1_Missense_Mutation_p.A368T|CORO1A_ENST00000565497.1_Intron	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	368					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.A368T(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						CCCACCCACCGCAGGGCCCGA	0.652																																					p.A368T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1102A	16						.						67.0	73.0	71.0					16																	30199718		2197	4300	6497	30107219	SO:0001583	missense	11151	exon11			X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"""Coronins"", ""WD repeat domain containing"""	2252	protein-coding gene	gene with protein product	"""Clabp TACO"""	605000	"""coronin, actin-binding protein, 1A"""			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.1102G>A	16.37:g.30199718G>A	ENSP00000219150:p.Ala368Thr		30107219	NM_001193333	B2RBL1|Q2YD73	Missense_Mutation	SNP	ENST00000219150.5	37	CCDS10673.1	.	.	.	.	.	.	.	.	.	.	.	13.17	2.158472	0.38119	.	.	ENSG00000102879	ENST00000219150	T	0.31247	1.5	5.23	5.23	0.72850	Domain of unknown function DUF1900 (1);	0.264957	0.36815	N	0.002398	T	0.24470	0.0593	L	0.49513	1.565	0.37164	D	0.902716	B	0.34200	0.441	B	0.26094	0.066	T	0.12066	-1.0562	10	0.19590	T	0.45	-4.7959	12.3862	0.55333	0.0:0.2771:0.7229:0.0	.	368	P31146	COR1A_HUMAN	T	368	ENSP00000219150:A368T	ENSP00000219150:A368T	A	+	1	0	CORO1A	30107219	0.036000	0.19791	0.748000	0.31131	0.979000	0.70002	0.853000	0.27777	2.724000	0.93272	0.561000	0.74099	GCA		0.652	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2	NM_007074	
MMP25	64386	broad.mit.edu	37	16	3100090	3100090	+	Missense_Mutation	SNP	C	C	T	rs200558581		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:3100090C>T	ENST00000336577.4	+	3	550	c.313C>T	c.(313-315)Cgt>Tgt	p.R105C	RP11-473M20.7_ENST00000576250.1_RNA|MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	120					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R105C(1)|p.R29C(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	GGTCAGGCGGCGTCGCCGGTA	0.701													C|||	1	0.000199681	0.0	0.0	5008	,	,		15084	0.001		0.0	False		,,,				2504	0.0				p.R105C	NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C313T	16						.	C	CYS/ARG	0,4394		0,0,2197	53.0	58.0	56.0		313	2.8	0.1	16		56	1,8595	1.2+/-3.3	0,1,4297	no	missense	MMP25	NM_022468.4	180	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	105/563	3100090	1,12989	2197	4298	6495	3040091	SO:0001583	missense	64386	exon3			AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.313C>T	16.37:g.3100090C>T	ENSP00000337816:p.Arg105Cys		3040091	NM_022468	Q96F04|Q96TE2	Missense_Mutation	SNP	ENST00000336577.4	37	CCDS10492.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.78	1.740677	0.30865	0.0	1.16E-4	ENSG00000008516	ENST00000336577;ENST00000325800	T	0.19669	2.13	5.06	2.76	0.32466	Metallopeptidase, catalytic domain (1);	0.000000	0.34802	U	0.003670	T	0.49643	0.1569	M	0.90870	3.155	0.22521	N	0.999027	D;D	0.89917	1.0;1.0	D;D	0.66351	0.917;0.943	T	0.47661	-0.9100	10	0.87932	D	0	.	11.3225	0.49430	0.4232:0.5768:0.0:0.0	.	29;105	O43923;Q9NPA2	.;MMP25_HUMAN	C	105;32	ENSP00000337816:R105C	ENSP00000324953:R32C	R	+	1	0	MMP25	3040091	0.974000	0.33945	0.057000	0.19452	0.144000	0.21451	2.486000	0.45259	1.057000	0.40506	0.655000	0.94253	CGT		0.701	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468	
TBC1D10B	26000	broad.mit.edu	37	16	30369488	30369488	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:30369488C>T	ENST00000409939.3	-	9	2284	c.2204G>A	c.(2203-2205)cGg>cAg	p.R735Q	CD2BP2_ENST00000305596.3_5'Flank|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	735					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)	p.R460Q(1)		endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			ctgtttctgccgctccttctc	0.592																																					p.R735Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2204A	16						.						117.0	84.0	95.0					16																	30369488		2096	4070	6166	30276989	SO:0001583	missense	26000	exon9			BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.2204G>A	16.37:g.30369488C>T	ENSP00000386538:p.Arg735Gln		30276989	NM_015527	B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Missense_Mutation	SNP	ENST00000409939.3	37	CCDS10676.2	.	.	.	.	.	.	.	.	.	.	C	10.52	1.374012	0.24857	.	.	ENSG00000169221	ENST00000409939	D	0.97066	-4.23	5.06	2.87	0.33458	.	0.368027	0.21298	N	0.076844	D	0.93357	0.7882	L	0.46157	1.445	0.24529	N	0.994124	B	0.26602	0.154	B	0.14023	0.01	D	0.88172	0.2865	10	0.59425	D	0.04	.	6.8248	0.23876	0.1545:0.6712:0.0:0.1743	.	735	Q4KMP7	TB10B_HUMAN	Q	735	ENSP00000386538:R735Q	ENSP00000386538:R735Q	R	-	2	0	TBC1D10B	30276989	0.000000	0.05858	0.618000	0.29105	0.284000	0.27059	0.274000	0.18680	1.134000	0.42165	0.313000	0.20887	CGG		0.592	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255527.3	NM_015527	
ZSCAN32	54925	broad.mit.edu	37	16	3434605	3434605	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:3434605G>A	ENST00000396852.4	-	6	1395	c.1088C>T	c.(1087-1089)gCt>gTt	p.A363V	NAA60_ENST00000576906.1_3'UTR|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.A151V|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.A74V|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.A363V|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.A151V|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.A363V|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.A74V	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	363					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A151V(1)									CAGCTCTCCAGCCTCAATATC	0.517																																					p.A151V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C452T	16						.						131.0	129.0	130.0					16																	3434605		2197	4300	6497	3374606	SO:0001583	missense	54925	exon5			AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.1088C>T	16.37:g.3434605G>A	ENSP00000380061:p.Ala363Val		3374606	NM_017810	B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	ENST00000396852.4	37		.	.	.	.	.	.	.	.	.	.	G	9.753	1.168012	0.21621	.	.	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000439568;ENST00000422427	T;T;T;T;T	0.15487	3.1;3.18;3.18;3.15;2.42	3.2	-0.087	0.13679	.	2.734130	0.02741	U	0.116308	T	0.11580	0.0282	N	0.24115	0.695	0.09310	N	1	B;B;B	0.32409	0.091;0.37;0.225	B;B;B	0.30105	0.062;0.111;0.045	T	0.21518	-1.0243	10	0.28530	T	0.3	.	5.7903	0.18357	0.3979:0.0:0.6021:0.0	.	151;151;363	B4DR24;Q9NX65;Q6WMU8	.;ZN434_HUMAN;.	V	151;363;363;74;151	ENSP00000302502:A151V;ENSP00000380061:A363V;ENSP00000380057:A363V;ENSP00000391787:A74V;ENSP00000407312:A151V	ENSP00000302502:A151V	A	-	2	0	ZNF434	3374606	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-0.511000	0.06321	-0.236000	0.09753	0.655000	0.94253	GCT		0.517	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810	
CREBBP	1387	broad.mit.edu	37	16	3778597	3778597	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:3778597G>A	ENST00000262367.5	-	31	7260	c.6451C>T	c.(6451-6453)Cgg>Tgg	p.R2151W	CREBBP_ENST00000382070.3_Missense_Mutation_p.R2113W	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2151					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R2151W(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACACCGGGCCGCGGCACGCCA	0.672			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.R2151W			Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6451T	16						.						59.0	55.0	56.0					16																	3778597		2197	4299	6496	3718598	SO:0001583	missense	1387	exon31			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6451C>T	16.37:g.3778597G>A	ENSP00000262367:p.Arg2151Trp		3718598	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	7.684	0.689718	0.14973	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.84944	-1.92;-1.8	5.01	2.83	0.33086	.	0.000000	0.64402	D	0.000003	D	0.84665	0.5522	L	0.32530	0.975	0.58432	D	0.99999	D;D	0.76494	0.999;0.999	P;P	0.57620	0.824;0.824	D	0.85080	0.0945	10	0.56958	D	0.05	-29.8386	12.4286	0.55561	0.0:0.0:0.5344:0.4656	.	2181;2151	Q4LE28;Q92793	.;CBP_HUMAN	W	2151;2181;2113;686	ENSP00000262367:R2151W;ENSP00000371502:R2113W	ENSP00000262367:R2151W	R	-	1	2	CREBBP	3718598	0.596000	0.26866	0.971000	0.41717	0.885000	0.51271	0.920000	0.28705	1.068000	0.40764	0.655000	0.94253	CGG		0.672	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
CREBBP	1387	broad.mit.edu	37	16	3779534	3779534	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:3779534G>A	ENST00000262367.5	-	31	6323	c.5514C>T	c.(5512-5514)tgC>tgT	p.C1838C	CREBBP_ENST00000382070.3_Silent_p.C1800C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1838	Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.C1838C(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGGCACGGGGCATTTGTTTT	0.632			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.C1838C			Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5514T	16						.						185.0	156.0	166.0					16																	3779534		2197	4300	6497	3719535	SO:0001819	synonymous_variant	1387	exon31			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.5514C>T	16.37:g.3779534G>A			3719535	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	CCDS10509.1																																																																																				0.632	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
ZNF768	79724	broad.mit.edu	37	16	30536607	30536607	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:30536607C>T	ENST00000380412.5	-	2	1029	c.854G>A	c.(853-855)gGt>gAt	p.G285D	ZNF768_ENST00000562803.1_Missense_Mutation_p.G254D	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	285					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G285D(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GGGCTTCTCACCGGTGTGGAT	0.632																																					p.G285D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G854A	16						.						75.0	73.0	74.0					16																	30536607		2197	4300	6497	30444108	SO:0001583	missense	79724	exon2			BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.854G>A	16.37:g.30536607C>T	ENSP00000369777:p.Gly285Asp		30444108	NM_024671	Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908634	0.52439	.	.	ENSG00000169957	ENST00000380412	T	0.26660	1.72	4.99	4.04	0.47022	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.159903	0.30602	N	0.009262	T	0.44973	0.1319	M	0.68593	2.085	0.32500	N	0.538993	D	0.89917	1.0	D	0.97110	1.0	T	0.57676	-0.7770	10	0.87932	D	0	-6.6525	8.0899	0.30795	0.0:0.7536:0.1601:0.0862	.	285	Q9H5H4	ZN768_HUMAN	D	285	ENSP00000369777:G285D	ENSP00000369777:G285D	G	-	2	0	ZNF768	30444108	0.004000	0.15560	0.845000	0.33349	0.944000	0.59088	0.676000	0.25247	1.336000	0.45506	0.462000	0.41574	GGT		0.632	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671	
C16orf78	123970	broad.mit.edu	37	16	49430486	49430486	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:49430486G>A	ENST00000299191.3	+	4	664	c.547G>A	c.(547-549)Gac>Aac	p.D183N		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	183						nucleus (GO:0005634)		p.D183N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						CAAGATGCCTGACATGGCTTA	0.488																																					p.D183N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G547A	16						.						87.0	79.0	82.0					16																	49430486		2199	4300	6499	47987987	SO:0001583	missense	123970	exon4			BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.547G>A	16.37:g.49430486G>A	ENSP00000299191:p.Asp183Asn		47987987	NM_144602		Missense_Mutation	SNP	ENST00000299191.3	37	CCDS10738.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814176	0.70912	.	.	ENSG00000166152	ENST00000299191	T	0.55052	0.54	5.29	5.29	0.74685	.	0.436525	0.19845	N	0.104761	T	0.68842	0.3045	M	0.62723	1.935	0.18873	N	0.999987	D	0.89917	1.0	D	0.72338	0.977	T	0.61412	-0.7068	9	.	.	.	-35.1583	14.7897	0.69830	0.0:0.0:1.0:0.0	.	183	Q8WTQ4	CP078_HUMAN	N	183	ENSP00000299191:D183N	.	D	+	1	0	C16orf78	47987987	0.931000	0.31567	0.062000	0.19696	0.002000	0.02628	4.283000	0.58977	2.618000	0.88619	0.655000	0.94253	GAC		0.488	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602	
UBN1	29855	broad.mit.edu	37	16	4902929	4902929	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:4902929C>T	ENST00000396658.4	+	1	714	c.11C>T	c.(10-12)cCc>cTc	p.P4L	UBN1_ENST00000545171.1_Missense_Mutation_p.P4L|UBN1_ENST00000262376.6_Missense_Mutation_p.P4L|UBN1_ENST00000590769.1_Missense_Mutation_p.P4L	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	4	Sufficient for interaction with HIRA.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P4L(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATGTCGGAGCCCCACAGGGTC	0.517																																					p.P4L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11T	16						.						74.0	72.0	72.0					16																	4902929		2197	4300	6497	4842930	SO:0001583	missense	29855	exon1			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.11C>T	16.37:g.4902929C>T	ENSP00000379894:p.Pro4Leu		4842930	NM_016936	B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323707	0.81580	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.54071	1.2;0.59;1.2	5.84	5.84	0.93424	.	0.100161	0.64402	D	0.000001	T	0.70859	0.3272	M	0.64404	1.975	0.58432	D	0.999998	D;D	0.76494	0.999;0.998	D;D	0.68943	0.961;0.914	T	0.67413	-0.5677	10	0.41790	T	0.15	-20.0503	20.1295	0.97995	0.0:1.0:0.0:0.0	.	4;4	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	L	4	ENSP00000262376:P4L;ENSP00000442379:P4L;ENSP00000379894:P4L	ENSP00000262376:P4L	P	+	2	0	UBN1	4842930	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.482000	0.73613	2.758000	0.94735	0.591000	0.81541	CCC		0.517	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936	
C16orf78	123970	broad.mit.edu	37	16	49433070	49433070	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:49433070C>T	ENST00000299191.3	+	5	796	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	227						nucleus (GO:0005634)		p.R227W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GGAGAACATTCGGACCTTGCT	0.453																																					p.R227W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C679T	16						.						125.0	104.0	111.0					16																	49433070		2199	4300	6499	47990571	SO:0001583	missense	123970	exon5			BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.679C>T	16.37:g.49433070C>T	ENSP00000299191:p.Arg227Trp		47990571	NM_144602		Missense_Mutation	SNP	ENST00000299191.3	37	CCDS10738.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574577	0.45902	.	.	ENSG00000166152	ENST00000299191	T	0.54866	0.55	5.47	0.693	0.18056	.	1.434460	0.04753	N	0.424991	T	0.68366	0.2993	L	0.54323	1.7	0.09310	N	1	D	0.89917	1.0	D	0.72338	0.977	T	0.57551	-0.7792	9	.	.	.	-25.0095	12.0671	0.53594	0.6908:0.3092:0.0:0.0	.	227	Q8WTQ4	CP078_HUMAN	W	227	ENSP00000299191:R227W	.	R	+	1	2	C16orf78	47990571	0.000000	0.05858	0.048000	0.18961	0.538000	0.34931	0.013000	0.13310	0.165000	0.19558	0.561000	0.74099	CGG		0.453	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602	
SEC14L5	9717	broad.mit.edu	37	16	5037580	5037580	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:5037580C>T	ENST00000251170.7	+	3	266	c.86C>T	c.(85-87)aCg>aTg	p.T29M		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	29	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)	p.T29M(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CGTTTCCCCACGTGCCCACAG	0.721																																					p.T29M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C86T	16						.						10.0	12.0	11.0					16																	5037580		1905	4102	6007	4977581	SO:0001583	missense	9717	exon3			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.86C>T	16.37:g.5037580C>T	ENSP00000251170:p.Thr29Met		4977581	NM_014692		Missense_Mutation	SNP	ENST00000251170.7	37	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644851	0.87859	.	.	ENSG00000103184	ENST00000251170	T	0.19105	2.17	4.71	2.71	0.32032	PRELI/MSF1 (2);	0.080983	0.51477	D	0.000087	T	0.50188	0.1601	M	0.86953	2.85	0.54753	D	0.999983	D	0.89917	1.0	D	0.74023	0.982	T	0.61008	-0.7149	10	0.87932	D	0	-21.7089	14.7405	0.69451	0.0:0.7245:0.2755:0.0	.	29	O43304	S14L5_HUMAN	M	29	ENSP00000251170:T29M	ENSP00000251170:T29M	T	+	2	0	SEC14L5	4977581	0.958000	0.32768	1.000000	0.80357	0.994000	0.84299	2.188000	0.42612	0.583000	0.29574	0.650000	0.86243	ACG		0.721	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1		
SEC14L5	9717	broad.mit.edu	37	16	5041934	5041934	+	Silent	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:5041934T>C	ENST00000251170.7	+	6	750	c.570T>C	c.(568-570)gaT>gaC	p.D190D		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	190						integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)	p.D190D(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GTGAGGAGGATGCCCGCAACC	0.662																																					p.D190D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T570C	16						.						31.0	32.0	32.0					16																	5041934		2023	4169	6192	4981935	SO:0001819	synonymous_variant	9717	exon6			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.570T>C	16.37:g.5041934T>C			4981935	NM_014692		Silent	SNP	ENST00000251170.7	37	CCDS45403.1																																																																																				0.662	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1		
SALL1	6299	broad.mit.edu	37	16	51175664	51175664	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:51175664T>C	ENST00000251020.4	-	2	502	c.469A>G	c.(469-471)Agc>Ggc	p.S157G	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.S60G|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	157	Poly-Ser.				adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S157G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ccgctgctgctgctgctgctg	0.642																																					p.S157G	GBM(103;1352 1446 1855 4775 8890)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A469G	16						.																																			49733165	SO:0001583	missense	6299	exon2			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.469A>G	16.37:g.51175664T>C	ENSP00000251020:p.Ser157Gly		49733165	NM_002968	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.452578	0.00012	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06294	3.32;3.32	0.225	-0.451	0.12214	.	0.410124	0.18238	N	0.147338	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39165	-0.9627	9	0.41790	T	0.15	.	.	.	.	.	157	Q9NSC2	SALL1_HUMAN	G	157;60;121	ENSP00000251020:S157G;ENSP00000407914:S60G	ENSP00000251020:S157G	S	-	1	0	SALL1	49733165	0.000000	0.05858	0.015000	0.15790	0.003000	0.03518	-1.472000	0.02341	-0.850000	0.04152	-0.879000	0.02964	AGC		0.642	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
MMP2	4313	broad.mit.edu	37	16	55519308	55519308	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:55519308C>T	ENST00000219070.4	+	4	1136	c.627C>T	c.(625-627)gaC>gaT	p.D209D	MMP2_ENST00000570308.1_Silent_p.D133D|MMP2_ENST00000437642.2_Silent_p.D159D|MMP2_ENST00000543485.1_Silent_p.D133D	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	209	Collagenase-like 1.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.D209D(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	ATTTTGATGACGATGAGCTAT	0.577																																					p.D209D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C627T	16						.						111.0	98.0	102.0					16																	55519308		2198	4300	6498	54076809	SO:0001819	synonymous_variant	4313	exon4				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.627C>T	16.37:g.55519308C>T			54076809	NM_004530	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	SNP	ENST00000219070.4	37	CCDS10752.1																																																																																				0.577	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3		
SLC12A3	6559	broad.mit.edu	37	16	56912065	56912065	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:56912065C>T	ENST00000563236.1	+	9	1197	c.1172C>T	c.(1171-1173)gCc>gTc	p.A391V	SLC12A3_ENST00000262502.5_Missense_Mutation_p.A390V|SLC12A3_ENST00000438926.2_Missense_Mutation_p.A391V|SLC12A3_ENST00000566786.1_Missense_Mutation_p.A390V			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	391					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.A391V(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCCATCTCAGCCACCATTGGT	0.617																																					p.A391V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1172T	16						.						48.0	40.0	42.0					16																	56912065		2198	4300	6498	55469566	SO:0001583	missense	6559	exon9				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1172C>T	16.37:g.56912065C>T	ENSP00000456149:p.Ala391Val		55469566	NM_000339	A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413753	0.25465	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.77	5.77	0.91146	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	N	0.11673	0.155	0.80722	D	1	B;B;P	0.35033	0.012;0.334;0.481	B;P;B	0.46917	0.018;0.531;0.396	T	0.43686	-0.9376	9	0.14656	T	0.56	.	19.9785	0.97317	0.0:1.0:0.0:0.0	.	390;391;391	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	V	390;391	.	ENSP00000262502:A391V	A	+	2	0	SLC12A3	55469566	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.934000	0.56553	2.729000	0.93468	0.555000	0.69702	GCC		0.617	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1		
CNGB1	1258	broad.mit.edu	37	16	57992349	57992349	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:57992349G>T	ENST00000251102.8	-	11	862	c.802C>A	c.(802-804)Ccg>Acg	p.P268T	CNGB1_ENST00000311183.4_Missense_Mutation_p.P268T|CNGB1_ENST00000564448.1_Missense_Mutation_p.P262T	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	268					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.P268T(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ACTGGCTGCGGCAAGGCCATC	0.612																																					p.P268T	Colon(156;1293 1853 16336 28962 38659)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C802A	16						.						73.0	89.0	84.0					16																	57992349		2136	4247	6383	56549850	SO:0001583	missense	1258	exon11			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.802C>A	16.37:g.57992349G>T	ENSP00000251102:p.Pro268Thr		56549850	NM_001135639	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497329	0.44455	.	.	ENSG00000070729	ENST00000251102;ENST00000311183	D;T	0.99803	-6.82;-0.98	4.02	4.02	0.46733	.	0.000000	0.39210	N	0.001424	D	0.99542	0.9836	L	0.55990	1.75	0.26995	N	0.965052	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.96816	0.9600	10	0.87932	D	0	.	11.9631	0.53019	0.0:0.0:1.0:0.0	.	268;268	Q14028-3;Q14028	.;CNGB1_HUMAN	T	268	ENSP00000251102:P268T;ENSP00000311670:P268T	ENSP00000251102:P268T	P	-	1	0	CNGB1	56549850	1.000000	0.71417	0.996000	0.52242	0.300000	0.27592	3.803000	0.55560	2.515000	0.84797	0.655000	0.94253	CCG		0.612	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297	
MMP15	4324	broad.mit.edu	37	16	58072231	58072231	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:58072231C>A	ENST00000219271.3	+	3	1158	c.373C>A	c.(373-375)Ctg>Atg	p.L125M		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	125					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L125M(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	GAAAGCCAACCTGCGGCGGCG	0.647																																					p.L125M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C373A	16						.						101.0	94.0	97.0					16																	58072231		2198	4300	6498	56629732	SO:0001583	missense	4324	exon3			Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.373C>A	16.37:g.58072231C>A	ENSP00000219271:p.Leu125Met		56629732	NM_002428	A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	37	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	c	15.84	2.950550	0.53186	.	.	ENSG00000102996	ENST00000219271	T	0.17213	2.29	4.22	3.11	0.35812	Metallopeptidase, catalytic domain (1);	0.158837	0.40640	N	0.001052	T	0.12603	0.0306	N	0.17312	0.475	0.27649	N	0.947462	D	0.56968	0.978	P	0.49140	0.601	T	0.08452	-1.0721	10	0.27082	T	0.32	.	8.9742	0.35926	0.4312:0.5688:0.0:0.0	.	125	P51511	MMP15_HUMAN	M	125	ENSP00000219271:L125M	ENSP00000219271:L125M	L	+	1	2	MMP15	56629732	0.827000	0.29292	0.892000	0.35008	0.912000	0.54170	1.367000	0.34204	2.096000	0.63516	0.462000	0.41574	CTG		0.647	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428	
CDH5	1003	broad.mit.edu	37	16	66420974	66420974	+	Missense_Mutation	SNP	C	C	T	rs150311666		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:66420974C>T	ENST00000341529.3	+	3	621	c.473C>T	c.(472-474)gCg>gTg	p.A158V	CDH5_ENST00000563425.2_Missense_Mutation_p.A158V	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	158	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)	p.A158V(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	TTGTTCAATGCGTCCGTGCCT	0.572																																					p.A158V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C473T	16						.	C	VAL/ALA	0,4404		0,0,2202	121.0	92.0	102.0		473	4.5	0.2	16	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	no	missense	CDH5	NM_001795.3	64	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	158/785	66420974	2,13002	2202	4300	6502	64978475	SO:0001583	missense	1003	exon3			X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.473C>T	16.37:g.66420974C>T	ENSP00000344115:p.Ala158Val		64978475	NM_001795	Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221601	0.58560	0.0	2.33E-4	ENSG00000179776	ENST00000341529;ENST00000379531	T	0.52295	0.67	5.49	4.46	0.54185	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.39627	0.1085	L	0.28192	0.835	0.80722	D	1	P	0.39060	0.657	B	0.42522	0.39	T	0.30416	-0.9979	9	0.52906	T	0.07	.	12.335	0.55062	0.0:0.6678:0.3322:0.0	.	158	P33151	CADH5_HUMAN	V	158	ENSP00000344115:A158V	ENSP00000344115:A158V	A	+	2	0	CDH5	64978475	1.000000	0.71417	0.197000	0.23402	0.032000	0.12392	4.769000	0.62300	2.735000	0.93741	0.655000	0.94253	GCG		0.572	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795	
CMTM2	146225	broad.mit.edu	37	16	66614019	66614019	+	Missense_Mutation	SNP	A	A	G	rs368740252		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:66614019A>G	ENST00000268595.2	+	2	527	c.376A>G	c.(376-378)Agc>Ggc	p.S126G	RP11-403P17.2_ENST00000568430.1_RNA|CMTM2_ENST00000379486.2_Intron	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	126	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.S126G(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		ATCCTTCTTCAGCTTCTTCAT	0.483																																					p.S126G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A376G	16						.	A	,GLY/SER	1,4401	2.1+/-5.4	0,1,2200	308.0	237.0	261.0		,376	-8.8	0.0	16		261	0,8600		0,0,4300	no	intron,missense	CMTM2	NM_001199317.1,NM_144673.2	,56	0,1,6500	GG,GA,AA		0.0,0.0227,0.0077	,possibly-damaging	,126/249	66614019	1,13001	2201	4300	6501	65171520	SO:0001583	missense	146225	exon2			BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"""chemokine-like factor super family 2"", ""chemokine-like factor superfamily 2"""	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.376A>G	16.37:g.66614019A>G	ENSP00000268595:p.Ser126Gly		65171520	NM_144673	Q5I2A4|Q8N7E5	Missense_Mutation	SNP	ENST00000268595.2	37	CCDS10814.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.587352	0.46110	2.27E-4	0.0	ENSG00000140932	ENST00000268595	T	0.32023	1.47	4.51	-8.78	0.00824	Marvel (1);	1.724340	0.02865	N	0.130778	T	0.18087	0.0434	L	0.40543	1.245	0.09310	N	1	B	0.33103	0.397	B	0.25759	0.063	T	0.07158	-1.0787	10	0.30078	T	0.28	-2.6289	6.0073	0.19553	0.1565:0.0:0.2712:0.5723	.	126	Q8TAZ6	CKLF2_HUMAN	G	126	ENSP00000268595:S126G	ENSP00000268595:S126G	S	+	1	0	CMTM2	65171520	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.027000	0.01433	-1.780000	0.01279	0.459000	0.35465	AGC		0.483	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268808.1		
CDH16	1014	broad.mit.edu	37	16	66946249	66946249	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:66946249C>T	ENST00000299752.4	-	12	1637	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	CDH16_ENST00000565796.1_Missense_Mutation_p.A482T|CDH16_ENST00000570262.1_Missense_Mutation_p.A402T|CDH16_ENST00000394055.3_Missense_Mutation_p.A482T|CDH16_ENST00000568632.1_Missense_Mutation_p.A385T	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	482	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.A482T(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AGGCGGAAGGCGGGCTCGAGG	0.577																																					p.A482T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1444A	16						.						94.0	91.0	92.0					16																	66946249		2200	4300	6500	65503750	SO:0001583	missense	1014	exon12			AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1444G>A	16.37:g.66946249C>T	ENSP00000299752:p.Ala482Thr		65503750	NM_004062	B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	c	11.43	1.635170	0.29068	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.51817	0.69;0.69	4.69	2.77	0.32553	Cadherin (4);Cadherin-like (1);	0.275088	0.35349	N	0.003261	T	0.26846	0.0657	L	0.31157	0.91	0.23784	N	0.996859	P;P;P	0.43662	0.621;0.814;0.723	B;B;B	0.32762	0.051;0.139;0.152	T	0.15694	-1.0428	10	0.49607	T	0.09	-8.1156	6.0587	0.19826	0.185:0.7199:0.0:0.0951	.	482;482;482	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	T	482;482;446	ENSP00000377619:A482T;ENSP00000299752:A482T	ENSP00000299752:A482T	A	-	1	0	CDH16	65503750	0.006000	0.16342	0.998000	0.56505	0.503000	0.33858	0.327000	0.19663	0.632000	0.30432	-1.263000	0.01449	GCC		0.577	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062	
RLTPR	146206	broad.mit.edu	37	16	67683046	67683046	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:67683046G>A	ENST00000334583.6	+	18	1987	c.1659G>A	c.(1657-1659)gcG>gcA	p.A553A	RLTPR_ENST00000545661.1_Silent_p.A517A	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	553					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)		p.A553A(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GACATGTGGCGCTTGGAAGGA	0.652																																					p.A553A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1659A	16						.						52.0	61.0	58.0					16																	67683046		2070	4197	6267	66240547	SO:0001819	synonymous_variant	146206	exon18			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1659G>A	16.37:g.67683046G>A			66240547	NM_001013838	B8X2Z3	Silent	SNP	ENST00000334583.6	37	CCDS45513.1																																																																																				0.652	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838	
NFATC3	4775	broad.mit.edu	37	16	68156121	68156121	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:68156121A>G	ENST00000346183.3	+	2	359	c.335A>G	c.(334-336)cAa>cGa	p.Q112R	RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.Q112R|NFATC3_ENST00000575270.1_Missense_Mutation_p.Q112R|NFATC3_ENST00000349223.5_Missense_Mutation_p.Q112R	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	112	Calcineurin-binding.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.Q112R(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CCAAGTATTCAAATTACATCT	0.398																																					p.Q112R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A335G	16						.						86.0	81.0	83.0					16																	68156121		2198	4300	6498	66713622	SO:0001583	missense	4775	exon2			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.335A>G	16.37:g.68156121A>G	ENSP00000300659:p.Gln112Arg		66713622	NM_173163	O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.092212	0.55968	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.09350	2.99;2.99;2.99	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.24624	0.0597	L	0.48642	1.525	0.80722	D	1	D;D;D;D	0.71674	0.99;0.998;0.99;0.99	D;D;D;D	0.79784	0.966;0.993;0.966;0.966	T	0.03315	-1.1049	10	0.15066	T	0.55	-8.3451	15.9688	0.79995	1.0:0.0:0.0:0.0	.	112;112;112;112	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	R	112	ENSP00000264008:Q112R;ENSP00000300659:Q112R;ENSP00000331324:Q112R	ENSP00000331324:Q112R	Q	+	2	0	NFATC3	66713622	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.910000	0.92685	2.231000	0.72958	0.460000	0.39030	CAA		0.398	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555	
CDH3	1001	broad.mit.edu	37	16	68721632	68721632	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:68721632C>T	ENST00000264012.4	+	12	2332	c.1788C>T	c.(1786-1788)aaC>aaT	p.N596N	CDH3_ENST00000429102.2_Silent_p.N596N|CDH3_ENST00000581171.1_Silent_p.N541N	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	596	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)|p.N596N(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CAGAGGTCAACGAGGAAGGTA	0.597																																					p.N596N												.	.	3	Unknown(2)|Substitution - coding silent(1)	breast(2)|large_intestine(1)	c.C1788T	16						.						83.0	59.0	67.0					16																	68721632		2198	4300	6498	67279133	SO:0001819	synonymous_variant	1001	exon12			X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1788C>T	16.37:g.68721632C>T			67279133	NM_001793	B2R6F4|Q05DI6	Silent	SNP	ENST00000264012.4	37	CCDS10868.1																																																																																				0.597	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793	
HYDIN	54768	broad.mit.edu	37	16	70954585	70954585	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:70954585C>A	ENST00000393567.2	-	46	7844	c.7694G>T	c.(7693-7695)gGc>gTc	p.G2565V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2565					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.G2564V(1)|p.G195V(1)|p.G2516V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAAGGGTACGCCCAGGtcctt	0.612																																					p.G2564V												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G7691T	16						.						43.0	46.0	45.0					16																	70954585		2029	4192	6221	69512086	SO:0001583	missense	54768	exon46			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.7694G>T	16.37:g.70954585C>A	ENSP00000377197:p.Gly2565Val		69512086	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825402	0.50739	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01464	4.86	5.89	5.89	0.94794	.	0.000000	0.33534	U	0.004817	T	0.10252	0.0251	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00092	-1.2083	10	0.72032	D	0.01	.	18.0178	0.89247	0.0:1.0:0.0:0.0	.	2564	F8WD23	.	V	2565;2564	ENSP00000377197:G2565V	ENSP00000313052:G2564V	G	-	2	0	HYDIN	69512086	0.936000	0.31750	0.229000	0.23960	0.035000	0.12851	4.856000	0.62932	2.790000	0.95986	0.609000	0.83330	GGC		0.612	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	70972624	70972624	+	Missense_Mutation	SNP	C	C	A	rs371734390		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:70972624C>A	ENST00000393567.2	-	44	7038	c.6888G>T	c.(6886-6888)aaG>aaT	p.K2296N		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2296					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.K2247N(1)|p.K2295N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAGACGCTCCTTCTCTTTCT	0.537																																					p.K2295N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6885T	16						.						110.0	97.0	101.0					16																	70972624		1938	4152	6090	69530125	SO:0001583	missense	54768	exon44			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6888G>T	16.37:g.70972624C>A	ENSP00000377197:p.Lys2296Asn		69530125	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577830	0.65878	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00932	5.53	5.6	-0.94	0.10405	.	0.000000	0.34088	U	0.004276	T	0.02083	0.0065	L	0.32530	0.975	0.47276	D	0.999376	D	0.76494	0.999	D	0.71656	0.974	T	0.59542	-0.7435	10	0.48119	T	0.1	.	10.7537	0.46223	0.0:0.4578:0.0:0.5422	.	2295	F8WD23	.	N	2296;2295	ENSP00000377197:K2296N	ENSP00000313052:K2295N	K	-	3	2	HYDIN	69530125	0.004000	0.15560	0.873000	0.34254	0.882000	0.50991	-0.154000	0.10130	0.062000	0.16340	0.603000	0.83216	AAG		0.537	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
DHX38	9785	broad.mit.edu	37	16	72135074	72135074	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:72135074G>A	ENST00000268482.3	+	10	1877	c.1368G>A	c.(1366-1368)gaG>gaA	p.E456E	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	456					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.E456E(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				AGCACAGGGAGCAGAAGGAGC	0.502																																					p.E456E	Melanoma(97;711 1442 7855 13832 28836)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1368A	16						.						118.0	126.0	124.0					16																	72135074		2198	4300	6498	70692575	SO:0001819	synonymous_variant	9785	exon10			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.1368G>A	16.37:g.72135074G>A			70692575	NM_014003	B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	CCDS10907.1																																																																																				0.502	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003	
ZFHX3	463	broad.mit.edu	37	16	72984578	72984578	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:72984578G>A	ENST00000268489.5	-	3	3678	c.3006C>T	c.(3004-3006)caC>caT	p.H1002H	ZFHX3_ENST00000397992.5_Silent_p.H88H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1002					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.H1002H(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTGTCTTGCAGTGCAGCTGGA	0.607																																					p.H1002H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3006T	16						.						166.0	133.0	144.0					16																	72984578		2198	4300	6498	71542079	SO:0001819	synonymous_variant	463	exon3			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3006C>T	16.37:g.72984578G>A			71542079	NM_006885	D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	CCDS10908.1																																																																																				0.607	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
CNTNAP4	85445	broad.mit.edu	37	16	76483754	76483754	+	Splice_Site	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:76483754T>C	ENST00000476707.1	+	6	1218	c.1079T>C	c.(1078-1080)aTg>aCg	p.M360T	CNTNAP4_ENST00000478060.1_Intron|CNTNAP4_ENST00000377504.4_Intron|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Splice_Site_p.M356T			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	357	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.M332T(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATCATTGCTATGGTGAGAGTC	0.343																																					p.W357R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1069C	16						.						41.0	40.0	41.0					16																	76483754		2198	4300	6498	75041255	SO:0001630	splice_region_variant	85445	exon7			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1080+1T>C	16.37:g.76483754T>C			75041255	NM_033401	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	T	7.997	0.754662	0.15778	.	.	ENSG00000152910	ENST00000307431;ENST00000476707	T;T	0.78595	-1.19;-1.19	5.43	-0.83	0.10792	Laminin G domain (1);	0.267039	0.26442	N	0.024349	T	0.50257	0.1605	.	.	.	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.35549	-0.9784	9	0.06494	T	0.89	.	5.6515	0.17618	0.1124:0.2564:0.0:0.6312	.	360;332;357	E9PDN6;Q96M80;Q9C0A0	.;.;CNTP4_HUMAN	T	356;360	ENSP00000306893:M356T;ENSP00000417628:M360T	ENSP00000306893:M356T	M	+	2	0	CNTNAP4	75041255	0.054000	0.20591	0.062000	0.19696	0.120000	0.20174	0.437000	0.21543	-0.339000	0.08401	0.533000	0.62120	ATG		0.343	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401	Missense_Mutation
RBFOX1	54715	broad.mit.edu	37	16	7637292	7637292	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:7637292G>A	ENST00000550418.1	+	7	1446	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	RBFOX1_ENST00000340209.4_Missense_Mutation_p.R158Q|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000436368.2_Missense_Mutation_p.R173Q|RBFOX1_ENST00000422070.4_Missense_Mutation_p.R196Q|RBFOX1_ENST00000547372.1_Missense_Mutation_p.R196Q|RBFOX1_ENST00000547338.1_Missense_Mutation_p.R153Q|RBFOX1_ENST00000553186.1_Missense_Mutation_p.R153Q|RBFOX1_ENST00000311745.5_Missense_Mutation_p.R173Q|RBFOX1_ENST00000355637.4_Missense_Mutation_p.R173Q|RBFOX1_ENST00000535565.2_Missense_Mutation_p.R141Q	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	153	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.R173Q(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTTAATGAGCGAGGCTCAAAG	0.294																																					p.R173Q	Ovarian(157;934 2567 15163 39509)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G518A	16						.						67.0	72.0	70.0					16																	7637292		2197	4296	6493	7577293	SO:0001583	missense	54715	exon4			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.458G>A	16.37:g.7637292G>A	ENSP00000450031:p.Arg153Gln		7577293	NM_145893	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	G	34	5.305737	0.95601	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37	5.91	5.91	0.95273	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.32315	0.0825	N	0.22421	0.69	0.80722	D	1	P;D;P;D;P;D;P;D;D	0.89917	0.929;1.0;0.942;1.0;0.526;0.999;0.93;0.988;0.964	P;D;P;D;P;D;B;P;P	0.83275	0.813;0.996;0.834;0.996;0.544;0.982;0.346;0.771;0.596	T	0.05484	-1.0882	10	0.72032	D	0.01	-4.9966	20.2985	0.98592	0.0:0.0:1.0:0.0	.	173;141;196;173;173;173;153;153;196	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	Q	152;153;153;196;196;141;153;153;173;173;173;173;158	ENSP00000450402:R152Q;ENSP00000450031:R153Q;ENSP00000447753:R153Q;ENSP00000446842:R196Q;ENSP00000391269:R196Q;ENSP00000447281:R153Q;ENSP00000447717:R153Q;ENSP00000402745:R173Q;ENSP00000309117:R173Q;ENSP00000347855:R173Q;ENSP00000344196:R158Q	ENSP00000309117:R173Q	R	+	2	0	RBFOX1	7577293	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.441000	0.97557	2.793000	0.96121	0.655000	0.94253	CGA		0.294	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891	
CNTNAP4	85445	broad.mit.edu	37	16	76528873	76528873	+	Missense_Mutation	SNP	C	C	T	rs571000371		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:76528873C>T	ENST00000476707.1	+	13	2295	c.2156C>T	c.(2155-2157)tCg>tTg	p.S719L	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S643L|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S667L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.S715L			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	716	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.S691L(2)|p.S643L(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGAGGTTCTTCGCCTGATCTT	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		16083	0.0		0.0	False		,,,				2504	0.001				p.R716C												.	.	4	Substitution - Missense(4)	large_intestine(2)|prostate(2)	c.C2146T	16						.						174.0	167.0	170.0					16																	76528873		2198	4300	6498	75086374	SO:0001583	missense	85445	exon14			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2156C>T	16.37:g.76528873C>T	ENSP00000417628:p.Ser719Leu		75086374	NM_033401	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	C	0.007	-1.992828	0.00439	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.08458	3.09;3.09;3.09;3.09	5.18	-3.5	0.04710	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	0.496191	0.15006	N	0.285832	T	0.03390	0.0098	.	.	.	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.43893	-0.9363	9	0.14656	T	0.56	.	5.9022	0.18972	0.2015:0.3647:0.0:0.4338	.	643;719;691;716	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	L	715;667;643;719	ENSP00000306893:S715L;ENSP00000439733:S667L;ENSP00000418741:S643L;ENSP00000417628:S719L	ENSP00000306893:S715L	S	+	2	0	CNTNAP4	75086374	0.000000	0.05858	0.024000	0.17045	0.324000	0.28378	-0.744000	0.04839	-0.782000	0.04541	-1.148000	0.01847	TCG		0.423	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401	
C16orf46	123775	broad.mit.edu	37	16	81095211	81095211	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:81095211C>T	ENST00000299578.5	-	4	978	c.743G>A	c.(742-744)tGt>tAt	p.C248Y	C16orf46_ENST00000378611.4_Missense_Mutation_p.C248Y|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'Flank	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	248						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.C248Y(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						ATAAGCCACACACCCATCCTT	0.468																																					p.C248Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G743A	16						.						159.0	145.0	150.0					16																	81095211		2202	4300	6502	79652712	SO:0001583	missense	123775	exon4			BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.743G>A	16.37:g.81095211C>T	ENSP00000299578:p.Cys248Tyr		79652712	NM_152337	Q96MA7	Missense_Mutation	SNP	ENST00000299578.5	37	CCDS10932.1	.	.	.	.	.	.	.	.	.	.	C	9.618	1.132999	0.21041	.	.	ENSG00000166455	ENST00000378611;ENST00000299578	T;T	0.26660	1.72;1.72	5.16	0.781	0.18561	.	0.709481	0.13375	N	0.392570	T	0.33265	0.0857	L	0.52573	1.65	0.09310	N	1	D;D	0.60160	0.987;0.987	P;P	0.58391	0.838;0.838	T	0.09378	-1.0677	10	0.72032	D	0.01	.	5.054	0.14524	0.0:0.4847:0.3318:0.1835	.	248;248	Q6P387-2;Q6P387	.;CP046_HUMAN	Y	248	ENSP00000367874:C248Y;ENSP00000299578:C248Y	ENSP00000299578:C248Y	C	-	2	0	C16orf46	79652712	0.000000	0.05858	0.324000	0.25361	0.041000	0.13682	0.365000	0.20348	0.724000	0.32296	0.563000	0.77884	TGT		0.468	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337	
CDH13	1012	broad.mit.edu	37	16	83251054	83251054	+	Silent	SNP	C	C	T	rs564006725		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:83251054C>T	ENST00000566620.1	+	5	878	c.588C>T	c.(586-588)agC>agT	p.S196S	CDH13_ENST00000428848.3_Silent_p.S157S|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Silent_p.S243S	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	196	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)	p.S196S(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ACACAGGGAGCGTCTCCGTGA	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19626	0.0		0.0	False		,,,				2504	0.0				p.S196S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C588T	16						.						94.0	97.0	96.0					16																	83251054		1948	4128	6076	81808555	SO:0001819	synonymous_variant	1012	exon5			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.588C>T	16.37:g.83251054C>T			81808555	NM_001257	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	CCDS58486.1																																																																																				0.502	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257	
NECAB2	54550	broad.mit.edu	37	16	84030845	84030845	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:84030845C>T	ENST00000305202.4	+	9	837	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	NECAB2_ENST00000567703.1_3'UTR|NECAB2_ENST00000565691.1_Missense_Mutation_p.R191C	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	274						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.R274C(1)		endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						CCTGCAGCAGCGCCTGTCAGA	0.607																																					p.R274C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C820T	16						.						188.0	137.0	154.0					16																	84030845		2200	4300	6500	82588346	SO:0001583	missense	54550	exon9			AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	23746	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 2"""	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.820C>T	16.37:g.84030845C>T	ENSP00000307449:p.Arg274Cys		82588346	NM_019065	A2RRG3|O75547|Q6ZSK0	Missense_Mutation	SNP	ENST00000305202.4	37	CCDS10940.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975257	0.34848	.	.	ENSG00000103154	ENST00000305202	T	0.20200	2.09	4.46	4.46	0.54185	.	0.063945	0.64402	D	0.000008	T	0.42017	0.1184	M	0.66939	2.045	0.51482	D	0.999927	D	0.89917	1.0	D	0.64506	0.926	T	0.38090	-0.9677	10	0.87932	D	0	-19.8096	13.9666	0.64213	0.0:1.0:0.0:0.0	.	274	Q7Z6G3	NECA2_HUMAN	C	274	ENSP00000307449:R274C	ENSP00000307449:R274C	R	+	1	0	NECAB2	82588346	1.000000	0.71417	0.997000	0.53966	0.014000	0.08584	3.389000	0.52516	2.289000	0.77006	0.563000	0.77884	CGC		0.607	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269077.2	NM_019065	
KLHL36	79786	broad.mit.edu	37	16	84690779	84690779	+	Silent	SNP	G	G	A	rs147194484		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:84690779G>A	ENST00000564996.1	+	3	507	c.366G>A	c.(364-366)acG>acA	p.T122T	KLHL36_ENST00000258157.5_Silent_p.T122T	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	122					protein ubiquitination (GO:0016567)			p.T122T(1)		endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCCTGGAGACGGCTCACCTGC	0.607																																					p.T122T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G366A	16						.	G		0,4398		0,0,2199	84.0	77.0	79.0		366	-5.2	1.0	16	dbSNP_134	79	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KLHL36	NM_024731.2		0,2,6497	AA,AG,GG		0.0233,0.0,0.0154		122/617	84690779	2,12996	2199	4300	6499	83248280	SO:0001819	synonymous_variant	79786	exon3			AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.366G>A	16.37:g.84690779G>A			83248280	NM_024731	Q8N5G6|Q9H9U6	Silent	SNP	ENST00000564996.1	37	CCDS10948.1																																																																																				0.607	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2		
GRIN2A	2903	broad.mit.edu	37	16	9862888	9862888	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:9862888G>A	ENST00000396573.2	-	13	2724	c.2415C>T	c.(2413-2415)aaC>aaT	p.N805N	GRIN2A_ENST00000404927.2_Silent_p.N805N|GRIN2A_ENST00000562109.1_Silent_p.N805N|GRIN2A_ENST00000535259.1_Silent_p.N648N|GRIN2A_ENST00000330684.3_Silent_p.N805N|GRIN2A_ENST00000396575.2_Silent_p.N805N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	805					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.N805N(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCATCACCTCGTTCTTCTCGT	0.562																																					p.N805N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2415T	16						.						131.0	106.0	114.0					16																	9862888		2197	4300	6497	9770389	SO:0001819	synonymous_variant	2903	exon12				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2415C>T	16.37:g.9862888G>A			9770389	NM_001134408	O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	CCDS10539.1																																																																																				0.562	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
POLR3E	55718	broad.mit.edu	37	16	22334201	22334201	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:22334201delC	ENST00000299853.5	+	14	1184	c.1017delC	c.(1015-1017)agcfs	p.S339fs	POLR3E_ENST00000564209.1_Frame_Shift_Del_p.S339fs|POLR3E_ENST00000359210.4_Frame_Shift_Del_p.S339fs|POLR3E_ENST00000418581.2_Frame_Shift_Del_p.S303fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	339					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.P340fs*35(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		ACTCGTCCAGCCCTCACAGCG	0.642																																					p.S339fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1017delC	16						.						61.0	47.0	52.0					16																	22334201		2197	4300	6497	22241702	SO:0001589	frameshift_variant	55718	exon14			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1017delC	16.37:g.22334201delC	ENSP00000299853:p.Ser339fs		22241702	NM_018119	B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Frame_Shift_Del	DEL	ENST00000299853.5	37	CCDS10605.1																																																																																				0.642	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119	
RBL2	5934	broad.mit.edu	37	16	53496539	53496539	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:53496539delA	ENST00000262133.6	+	11	1669	c.1532delA	c.(1531-1533)caafs	p.Q511fs	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Frame_Shift_Del_p.Q295fs	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	511	Domain A.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)	p.R513fs*2(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAGCAGGAACAAAAAAGACTA	0.333																																					p.Q511fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1532delA	16						.						63.0	67.0	66.0					16																	53496539		2198	4298	6496	52054040	SO:0001589	frameshift_variant	5934	exon11			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.1532delA	16.37:g.53496539delA	ENSP00000262133:p.Gln511fs		52054040	NM_005611	B7Z913|Q15073|Q16084|Q8NE70|Q92812	Frame_Shift_Del	DEL	ENST00000262133.6	37	CCDS10748.1																																																																																				0.333	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611	
PSKH1	5681	broad.mit.edu	37	16	67961298	67961298	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:67961298delG	ENST00000291041.5	+	3	1198	c.1028delG	c.(1027-1029)cgtfs	p.R343fs		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	343	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R343fs*2(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		CCTGGAGCCCGTATGACTGCA	0.582																																					p.R343fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1028delG	16						.						96.0	88.0	91.0					16																	67961298		2198	4300	6498	66518799	SO:0001589	frameshift_variant	5681	exon3			M14504	CCDS10851.1	16q22.1	2008-02-05			ENSG00000159792	ENSG00000159792			9529	protein-coding gene	gene with protein product		177015				8268911	Standard	NM_006742		Approved		uc002euv.3	P11801	OTTHUMG00000137548	ENST00000291041.5:c.1028delG	16.37:g.67961298delG	ENSP00000291041:p.Arg343fs		66518799	NM_006742	Q9NY19	Frame_Shift_Del	DEL	ENST00000291041.5	37	CCDS10851.1																																																																																				0.582	PSKH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268882.3	NM_006742	
EMC8	10328	broad.mit.edu	37	16	85814050	85814050	+	Silent	SNP	G	G	A	rs146805408	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr16:85814050G>A	ENST00000253457.3	-	4	652	c.408C>T	c.(406-408)tgC>tgT	p.C136C	EMC8_ENST00000435200.2_Intron|RNU1-103P_ENST00000516502.1_RNA	NM_006067.4	NP_006058.1	O43402	EMC8_HUMAN	ER membrane protein complex subunit 8	136						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.C136C(1)									TAGGCGCTACGCAGTCCATCG	0.607																																					p.C136C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C408T	16						.	G	,	1,4395	2.1+/-5.4	0,1,2197	135.0	93.0	107.0		,408	-1.7	0.0	16	dbSNP_134	107	2,8598	2.2+/-6.3	0,2,4298	no	intron,coding-synonymous	COX4NB	NM_001142288.1,NM_006067.4	,	0,3,6495	AA,AG,GG		0.0233,0.0227,0.0231	,	,136/211	85814050	3,12993	2198	4300	6498	84371551	SO:0001819	synonymous_variant	10328	exon4			AF005888	CCDS10954.1, CCDS45541.1	16q24	2012-05-30	2012-05-30	2012-05-30	ENSG00000131148	ENSG00000131148			7864	protein-coding gene	gene with protein product	"""family with sequence similarity 158, member B"""	604886	"""chromosome 16 open reading frame 4"", ""neighbor of COX4"", ""chromosome 16 open reading frame 2"", ""COX4 neighbor"""	C16orf4, NOC4, C16orf2, COX4NB		10337626, 22119785	Standard	NM_006067		Approved	FAM158B	uc002fjd.3	O43402	OTTHUMG00000137647	ENST00000253457.3:c.408C>T	16.37:g.85814050G>A			84371551	NM_006067	C9JB21	Silent	SNP	ENST00000253457.3	37	CCDS10954.1																																																																																				0.607	EMC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269099.1	NM_006067	
HS3ST3A1	9955	broad.mit.edu	37	17	13400087	13400087	+	Silent	SNP	C	C	T	rs367953318		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:13400087C>T	ENST00000284110.1	-	2	1445	c.648G>A	c.(646-648)acG>acA	p.T216T	HS3ST3A1_ENST00000578576.1_Silent_p.T14T	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	216	Substrate binding.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)	p.T216T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGTAACTGGGCGTCTTCTCCA	0.617																																					p.T216T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G648A	17						.	C		0,4406		0,0,2203	59.0	68.0	65.0		648	1.8	1.0	17		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HS3ST3A1	NM_006042.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		216/407	13400087	1,13005	2203	4300	6503	13340812	SO:0001819	synonymous_variant	9955	exon2			AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.648G>A	17.37:g.13400087C>T			13340812	NM_006042	A8K7N2	Silent	SNP	ENST00000284110.1	37	CCDS11165.1																																																																																				0.617	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042	
HS3ST3A1	9955	broad.mit.edu	37	17	13504345	13504345	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:13504345C>T	ENST00000284110.1	-	1	899	c.102G>A	c.(100-102)acG>acA	p.T34T		NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	34					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)	p.T34T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CGTAAAGGGACGTGAGCAGGG	0.716																																					p.T34T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G102A	17						.						44.0	39.0	40.0					17																	13504345		2195	4299	6494	13445070	SO:0001819	synonymous_variant	9955	exon1			AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.102G>A	17.37:g.13504345C>T			13445070	NM_006042	A8K7N2	Silent	SNP	ENST00000284110.1	37	CCDS11165.1																																																																																				0.716	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042	
CDRT1	374286	broad.mit.edu	37	17	15516054	15516054	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:15516054G>A	ENST00000395906.3	-	5	1082	c.1083C>T	c.(1081-1083)agC>agT	p.S361S	RP11-385D13.1_ENST00000455584.2_Silent_p.S671S	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	361								p.S361S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TCACACGCATGCTCTTCCCGT	0.433																																					p.S361S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1083T	17						.						183.0	183.0	183.0					17																	15516054		2203	4300	6503	15456779	SO:0001819	synonymous_variant	10626	exon5			U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.1083C>T	17.37:g.15516054G>A			15456779	NM_006382	O43848|O95611	Silent	SNP	ENST00000395906.3	37	CCDS45619.1	.	.	.	.	.	.	.	.	.	.	G	3.587	-0.084315	0.07097	.	.	ENSG00000251537	ENST00000455584	.	.	.	5.34	-3.54	0.04653	.	.	.	.	.	T	0.21062	0.0507	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30707	-0.9969	4	.	.	.	.	4.3562	0.11179	0.3674:0.0:0.3998:0.2328	.	.	.	.	V	686	.	.	A	-	2	0	RP11-385D13.1	15456779	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.634000	0.05477	-0.584000	0.05913	-1.125000	0.01998	GCA		0.433	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382	
CENPV	201161	broad.mit.edu	37	17	16251946	16251946	+	Missense_Mutation	SNP	C	C	T	rs548702393		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:16251946C>T	ENST00000299736.4	-	3	625	c.563G>A	c.(562-564)cGc>cAc	p.R188H	CENPV_ENST00000476243.1_Missense_Mutation_p.R34H|PIGL_ENST00000581006.1_Intron	NM_181716.2	NP_859067.2	Q7Z7K6	CENPV_HUMAN	centromere protein V	191					ameboidal cell migration (GO:0001667)|centromere complex assembly (GO:0034508)|mitotic nuclear division (GO:0007067)|pericentric heterochromatin assembly (GO:0031508)|positive regulation of cytokinesis (GO:0032467)|regulation of chromosome organization (GO:0033044)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	carbon-sulfur lyase activity (GO:0016846)	p.R188H(2)		endometrium(1)|large_intestine(2)	3						GAGCTTGAAGCGAGAAGCTGG	0.488																																					p.R188H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G563A	17						.						139.0	123.0	129.0					17																	16251946		2203	4300	6503	16192671	SO:0001583	missense	201161	exon3			AF514992	CCDS32575.1	17p11.2	2013-11-05	2008-10-29	2008-10-29	ENSG00000166582	ENSG00000166582			29920	protein-coding gene	gene with protein product		608139	"""proline rich 6"""	PRR6		12196509, 18772885	Standard	NM_181716		Approved	p30, CENP-V	uc002gpw.3	Q7Z7K6	OTTHUMG00000059345	ENST00000299736.4:c.563G>A	17.37:g.16251946C>T	ENSP00000299736:p.Arg188His		16192671	NM_181716	B2RPK2|Q3L8N5|Q8NFH6	Missense_Mutation	SNP	ENST00000299736.4	37	CCDS32575.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823160	0.32237	.	.	ENSG00000166582	ENST00000299736	.	.	.	5.46	3.48	0.39840	.	0.398318	0.28349	N	0.015661	T	0.43144	0.1234	L	0.40543	1.245	0.40791	D	0.983258	P	0.36438	0.553	B	0.36418	0.224	T	0.42413	-0.9453	9	0.59425	D	0.04	.	10.7585	0.46251	0.0:0.843:0.0:0.157	.	188	Q7Z7K6-3	.	H	188	.	ENSP00000299736:R188H	R	-	2	0	CENPV	16192671	0.968000	0.33430	1.000000	0.80357	0.949000	0.60115	0.740000	0.26188	0.782000	0.33613	-0.137000	0.14449	CGC		0.488	CENPV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131877.1	NM_181716	
RAI1	10743	broad.mit.edu	37	17	17697441	17697441	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:17697441G>A	ENST00000353383.1	+	3	1648	c.1179G>A	c.(1177-1179)atG>atA	p.M393I	RAI1_ENST00000261641.6_Missense_Mutation_p.M393I	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	393					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.M393I(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCCACTTCATGCCCCTGCTCA	0.627																																					p.M393I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1179A	17						.						102.0	103.0	103.0					17																	17697441		2203	4300	6503	17638166	SO:0001583	missense	10743	exon3			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.1179G>A	17.37:g.17697441G>A	ENSP00000323074:p.Met393Ile		17638166	NM_030665	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663290	0.88251	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.33865	1.39;1.39;1.39	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.41305	0.1153	M	0.71581	2.175	0.51012	D	0.999907	P	0.35745	0.518	B	0.31245	0.126	T	0.40403	-0.9565	10	0.49607	T	0.09	.	19.4943	0.95065	0.0:0.0:1.0:0.0	.	393	Q7Z5J4	RAI1_HUMAN	I	393;393;393;393;393;370	ENSP00000323074:M393I;ENSP00000379120:M393I;ENSP00000261641:M393I	ENSP00000261641:M393I	M	+	3	0	RAI1	17638166	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.737000	0.84957	2.621000	0.88768	0.561000	0.74099	ATG		0.627	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665	
DRG2	1819	broad.mit.edu	37	17	18009788	18009788	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:18009788C>T	ENST00000225729.3	+	12	1134	c.996C>T	c.(994-996)taC>taT	p.Y332Y	MYO15A_ENST00000205890.5_5'Flank|DRG2_ENST00000583355.1_Missense_Mutation_p.R139C|DRG2_ENST00000395726.4_Intron	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	332					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)	p.Y332Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					AGTTCAAGTACGCCCTGGTGT	0.602																																					p.Y332Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C996T	17						.						89.0	78.0	82.0					17																	18009788		2203	4300	6503	17950513	SO:0001819	synonymous_variant	1819	exon12			X80754	CCDS11191.1	17p13-p12	2008-07-18	2001-11-28		ENSG00000108591	ENSG00000108591			3030	protein-coding gene	gene with protein product		602986	"""developmentally regulated GTP-binding protein 2"""			9605870, 7929244	Standard	NM_001388		Approved		uc002gsh.2	P55039	OTTHUMG00000059399	ENST00000225729.3:c.996C>T	17.37:g.18009788C>T			17950513	NM_001388	B2R8G5|Q53Y50|Q9BWB2	Silent	SNP	ENST00000225729.3	37	CCDS11191.1																																																																																				0.602	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132075.3	NM_001388	
TOP3A	7156	broad.mit.edu	37	17	18188760	18188760	+	Missense_Mutation	SNP	G	G	A	rs377076547		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:18188760G>A	ENST00000321105.5	-	14	1886	c.1672C>T	c.(1672-1674)Cgg>Tgg	p.R558W	TOP3A_ENST00000542570.1_Missense_Mutation_p.R463W|TOP3A_ENST00000540524.1_Missense_Mutation_p.R88W	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	558					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)	p.R558W(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GGGAGGAACCGCTTGTCTGGG	0.602																																					p.R558W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1672T	17						.	G	TRP/ARG	0,4406		0,0,2203	116.0	81.0	93.0		1672	3.3	1.0	17		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	TOP3A	NM_004618.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	558/1002	18188760	1,13005	2203	4300	6503	18129485	SO:0001583	missense	7156	exon14			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1672C>T	17.37:g.18188760G>A	ENSP00000321636:p.Arg558Trp		18129485	NM_004618	A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488465	0.44249	0.0	1.16E-4	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.24350	1.86;1.86;1.86	5.4	3.27	0.37495	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);DNA topoisomerase, type IA, central region, subdomain 1 (1);	0.000000	0.85682	D	0.000000	T	0.55497	0.1924	M	0.92923	3.36	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.62382	0.901;0.893	T	0.68070	-0.5506	10	0.52906	T	0.07	-27.2009	13.9448	0.64077	0.0:0.0:0.5559:0.4441	.	463;558	B4DK80;Q13472	.;TOP3A_HUMAN	W	558;88;463	ENSP00000321636:R558W;ENSP00000446425:R88W;ENSP00000442336:R463W	ENSP00000321636:R558W	R	-	1	2	TOP3A	18129485	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.203000	0.51075	1.259000	0.44117	0.603000	0.83216	CGG		0.602	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2		
SPECC1	92521	broad.mit.edu	37	17	20108479	20108479	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:20108479C>A	ENST00000261503.5	+	4	1168	c.1117C>A	c.(1117-1119)Ctc>Atc	p.L373I	SPECC1_ENST00000395529.3_Missense_Mutation_p.L373I|SPECC1_ENST00000395525.3_Missense_Mutation_p.L292I|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.L292I|SPECC1_ENST00000395530.2_Missense_Mutation_p.L292I|SPECC1_ENST00000395527.4_Missense_Mutation_p.L373I|AC004702.2_ENST00000580225.1_lincRNA	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	373					cell adhesion (GO:0007155)	nucleus (GO:0005634)		p.L373I(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CCTGGCTTCCCTCACAGAGAA	0.463																																					p.L292I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C874A	17						.						102.0	110.0	107.0					17																	20108479		2203	4300	6503	20049071	SO:0001583	missense	92521	exon2			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.1117C>A	17.37:g.20108479C>A	ENSP00000261503:p.Leu373Ile		20049071	NM_001033555	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346515	0.82022	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	M	0.81341	2.54	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.998	T	0.48352	-0.9043	10	0.87932	D	0	-13.4007	16.4239	0.83808	0.0:1.0:0.0:0.0	.	373;292;292;373;373	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	I	373;373;373;292;292;292	ENSP00000261503:L373I;ENSP00000378900:L373I;ENSP00000378893:L292I;ENSP00000378896:L292I	ENSP00000261503:L373I	L	+	1	0	SPECC1	20049071	1.000000	0.71417	0.972000	0.41901	0.967000	0.64934	4.580000	0.60942	2.549000	0.85964	0.655000	0.94253	CTC		0.463	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904	
SGSM2	9905	broad.mit.edu	37	17	2268520	2268520	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:2268520C>T	ENST00000426855.2	+	11	1348	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	SGSM2_ENST00000268989.3_Silent_p.F391F|SGSM2_ENST00000574563.1_Silent_p.F391F	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	391					late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.F391F(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GGAAAGTGTTCCCCAAGCTAC	0.602																																					p.F391F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1173T	17						.						64.0	49.0	54.0					17																	2268520		2203	4300	6503	2215270	SO:0001819	synonymous_variant	9905	exon11			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.1173C>T	17.37:g.2268520C>T			2215270	NM_001098509	A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	ENST00000426855.2	37	CCDS45570.1																																																																																				0.602	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853	
CCDC144NL	339184	broad.mit.edu	37	17	20799103	20799103	+	Silent	SNP	G	G	A	rs7215626	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:20799103G>A	ENST00000327925.5	-	1	350	c.231C>T	c.(229-231)cgC>cgT	p.R77R	RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RNU6-1178P_ENST00000516674.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	77								p.R77R(1)		large_intestine(3)|lung(3)|skin(1)	7						GATCTTCCAGGCGGACATCGT	0.642													g|||	146	0.0291534	0.1082	0.0043	5008	,	,		15582	0.0		0.0	False		,,,				2504	0.0				p.R77R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C231T	17						.	G		428,3978	191.9+/-217.4	21,386,1796	67.0	82.0	77.0		231	-0.7	0.0	17	dbSNP_116	77	6,8576	3.7+/-12.6	0,6,4285	no	coding-synonymous	CCDC144NL	NM_001004306.1		21,392,6081	AA,AG,GG		0.0699,9.714,3.3415		77/222	20799103	434,12554	2203	4291	6494	20739695	SO:0001819	synonymous_variant	339184	exon1				CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.231C>T	17.37:g.20799103G>A			20739695	NM_001004306		Silent	SNP	ENST00000327925.5	37	CCDS32591.1																																																																																				0.642	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306	
KSR1	8844	broad.mit.edu	37	17	25909803	25909803	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:25909803G>T	ENST00000319524.6	+	4	652	c.652G>T	c.(652-654)Gca>Tca	p.A218S	KSR1_ENST00000398988.3_Missense_Mutation_p.A81S|KSR1_ENST00000509603.2_Missense_Mutation_p.A218S|KSR1_ENST00000268763.6_Missense_Mutation_p.A81S			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	218					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A218S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCTGGGCAGAGCAGGCAACAG	0.682																																					p.A81S	Esophageal Squamous(88;1120 1336 6324 10502 16832)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G241T	17						.						28.0	34.0	32.0					17																	25909803		2080	4201	6281	22933930	SO:0001583	missense	8844	exon5			U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.652G>T	17.37:g.25909803G>T	ENSP00000323178:p.Ala218Ser		22933930	NM_014238	F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37		.	.	.	.	.	.	.	.	.	.	G	1.519	-0.547444	0.04024	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	T;T;T	0.00472	7.19;7.19;7.19	4.97	-5.53	0.02552	.	1.344380	0.04393	N	0.362746	T	0.00271	0.0008	N	0.24115	0.695	0.20638	N	0.999879	B	0.19817	0.039	B	0.14023	0.01	T	0.43750	-0.9372	10	0.07813	T	0.8	.	9.0662	0.36465	0.1535:0.4933:0.3532:0.0	.	216	Q8IVT5	KSR1_HUMAN	S	218;218;81;81	ENSP00000323178:A218S;ENSP00000438795:A218S;ENSP00000268763:A81S	ENSP00000268763:A81S	A	+	1	0	KSR1	22933930	0.004000	0.15560	0.176000	0.23000	0.036000	0.12997	-0.666000	0.05280	-0.869000	0.04052	0.455000	0.32223	GCA		0.682	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238	
NOS2	4843	broad.mit.edu	37	17	26088231	26088231	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:26088231C>T	ENST00000313735.6	-	23	3060	c.2827G>A	c.(2827-2829)Gtc>Atc	p.V943I		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	943	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.V943I(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GTGCTGCAGACGCCGTGGTGC	0.632																																					p.V943I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2827A	17						.						58.0	50.0	53.0					17																	26088231		2203	4299	6502	23112358	SO:0001583	missense	4843	exon23			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2827G>A	17.37:g.26088231C>T	ENSP00000327251:p.Val943Ile		23112358	NM_000625	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508216	0.64410	.	.	ENSG00000007171	ENST00000313735;ENST00000379105	T	0.69306	-0.39	4.63	4.63	0.57726	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);Ferredoxin reductase-type FAD-binding domain (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.163888	0.40908	D	0.000981	T	0.73171	0.3553	M	0.84511	2.7	0.38097	D	0.937159	P	0.49358	0.923	B	0.43658	0.426	T	0.82275	-0.0538	10	0.59425	D	0.04	.	16.5466	0.84448	0.0:1.0:0.0:0.0	.	943	P35228	NOS2_HUMAN	I	943;904	ENSP00000327251:V943I	ENSP00000327251:V943I	V	-	1	0	NOS2	23112358	1.000000	0.71417	0.985000	0.45067	0.960000	0.62799	6.001000	0.70685	2.159000	0.67721	0.306000	0.20318	GTC		0.632	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625	
OR1A1	8383	broad.mit.edu	37	17	3119722	3119722	+	Missense_Mutation	SNP	G	G	A	rs146607947		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:3119722G>A	ENST00000304094.1	+	1	808	c.808G>A	c.(808-810)Gca>Aca	p.A270T		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A270T(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CCTAAAAGACGCAGTGATCAC	0.473													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20796	0.0		0.0	False		,,,				2504	0.0				p.A270T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G808A	17						.						152.0	135.0	141.0					17																	3119722		2203	4300	6503	3066472	SO:0001583	missense	8383	exon1			AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"""GPCR / Class A : Olfactory receptors"""	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.808G>A	17.37:g.3119722G>A	ENSP00000305207:p.Ala270Thr		3066472	NM_014565	A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	ENST00000304094.1	37	CCDS11022.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	3.246	-0.154316	0.06585	.	.	ENSG00000172146	ENST00000304094	T	0.00099	8.73	5.05	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000100	T	0.00073	0.0002	N	0.00661	-1.28	0.09310	N	1	P	0.52463	0.953	P	0.52109	0.69	T	0.61242	-0.7102	10	0.02654	T	1	.	9.9863	0.41843	0.0:0.2075:0.6578:0.1348	.	270	Q9P1Q5	OR1A1_HUMAN	T	270	ENSP00000305207:A270T	ENSP00000305207:A270T	A	+	1	0	OR1A1	3066472	0.000000	0.05858	0.996000	0.52242	0.406000	0.30931	0.821000	0.27338	2.632000	0.89209	0.511000	0.50034	GCA		0.473	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565	
SUZ12	23512	broad.mit.edu	37	17	30267338	30267338	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:30267338G>A	ENST00000322652.5	+	2	537	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	SUZ12_ENST00000580398.1_Missense_Mutation_p.R103Q	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	103					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.R103Q(1)	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CTTCGAACTCGGAATCTCATA	0.303			T	JAZF1	endometrial stromal tumours																																p.R103Q			Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G308A	17						.						85.0	79.0	81.0					17																	30267338		2203	4294	6497	27291451	SO:0001583	missense	23512	exon2			D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.308G>A	17.37:g.30267338G>A	ENSP00000316578:p.Arg103Gln		27291451	NM_015355	Q96BD9	Missense_Mutation	SNP	ENST00000322652.5	37	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	.	14.57	2.575809	0.45902	.	.	ENSG00000178691	ENST00000322652	T	0.23552	1.9	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	M	0.62723	1.935	0.51233	D	0.999911	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.988	T	0.46148	-0.9212	10	0.87932	D	0	-5.88	12.7265	0.57174	0.0805:0.0:0.9195:0.0	.	103;103	A8K1U9;Q15022	.;SUZ12_HUMAN	Q	103	ENSP00000316578:R103Q	ENSP00000316578:R103Q	R	+	2	0	SUZ12	27291451	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.089000	0.94137	2.383000	0.81215	0.597000	0.82753	CGG		0.303	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355	
OR1E1	8387	broad.mit.edu	37	17	3301292	3301292	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:3301292G>T	ENST00000322608.2	-	1	412	c.413C>A	c.(412-414)cCc>cAc	p.P138H		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	138					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P138H(1)		endometrium(3)|large_intestine(2)|lung(5)	10						ACAGAGCATGGGGCTCATGAT	0.562																																					p.P138H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C413A	17						.						96.0	75.0	82.0					17																	3301292		2203	4300	6503	3248042	SO:0001583	missense	8387	exon1			U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"""GPCR / Class A : Olfactory receptors"""	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.413C>A	17.37:g.3301292G>T	ENSP00000313384:p.Pro138His		3248042	NM_003553	O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Missense_Mutation	SNP	ENST00000322608.2	37	CCDS11024.1	.	.	.	.	.	.	.	.	.	.	G	8.144	0.785864	0.16189	.	.	ENSG00000180016	ENST00000322608	T	0.01347	4.99	4.69	4.69	0.59074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.01870	0.0059	L	0.49513	1.565	0.28459	N	0.915961	B	0.25169	0.119	B	0.25884	0.064	T	0.26052	-1.0114	10	0.59425	D	0.04	.	6.6004	0.22697	0.0954:0.1831:0.7214:0.0	.	138	P30953	OR1E1_HUMAN	H	138	ENSP00000313384:P138H	ENSP00000313384:P138H	P	-	2	0	OR1E1	3248042	0.000000	0.05858	1.000000	0.80357	0.502000	0.33828	-0.390000	0.07332	2.449000	0.82847	0.591000	0.81541	CCC		0.562	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	NM_003553	
PEX12	5193	broad.mit.edu	37	17	33904385	33904385	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:33904385T>C	ENST00000225873.4	-	2	959	c.352A>G	c.(352-354)Atg>Gtg	p.M118V	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	118					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.M118V(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACCAGGAACATAATAGATTTC	0.443																																					p.M118V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A352G	17						.						114.0	127.0	123.0					17																	33904385		2203	4300	6503	30928498	SO:0001583	missense	5193	exon2			U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.352A>G	17.37:g.33904385T>C	ENSP00000225873:p.Met118Val		30928498	NM_000286	B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	37	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	T	12.40	1.927866	0.34002	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	T	0.80824	-1.42	5.46	-1.1	0.09872	Pex, N-terminal (1);	0.208574	0.51477	N	0.000096	T	0.49029	0.1533	N	0.03608	-0.345	0.26227	N	0.979074	B	0.10296	0.003	B	0.15870	0.014	T	0.32534	-0.9903	10	0.18276	T	0.48	-2.332	2.4564	0.04531	0.1199:0.1692:0.4276:0.2833	.	118	O00623	PEX12_HUMAN	V	118	ENSP00000225873:M118V	ENSP00000225873:M118V	M	-	1	0	PEX12	30928498	1.000000	0.71417	0.151000	0.22473	0.901000	0.52897	2.310000	0.43708	0.044000	0.15775	-0.297000	0.09499	ATG		0.443	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286	
SRCIN1	80725	broad.mit.edu	37	17	36734842	36734842	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:36734842G>A	ENST00000264659.7	-	2	449	c.225C>T	c.(223-225)gaC>gaT	p.D75D	SRCIN1_ENST00000578925.1_Silent_p.D75D	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	0					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)	p.D75D(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TGCGGTCGGCGTCCGCCTTCT	0.682																																					p.D75D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C225T	17						.						25.0	28.0	27.0					17																	36734842		1996	4152	6148	33988368	SO:0001819	synonymous_variant	80725	exon2				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.225C>T	17.37:g.36734842G>A			33988368	NM_025248	Q75T46|Q8N4W8	Silent	SNP	ENST00000264659.7	37	CCDS45660.1																																																																																				0.682	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248	
FBXL20	84961	broad.mit.edu	37	17	37455310	37455310	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:37455310G>A	ENST00000264658.6	-	5	522	c.262C>T	c.(262-264)Cga>Tga	p.R88*	FBXL20_ENST00000583610.1_Nonsense_Mutation_p.R88*|FBXL20_ENST00000577399.1_Nonsense_Mutation_p.R90*|AC005288.1_ENST00000584584.1_RNA|FBXL20_ENST00000394294.3_Nonsense_Mutation_p.R88*	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	88					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)		p.R88*(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			CCCCCACATCGTTTTGAAATA	0.358																																					p.R88X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C262T	17						.						123.0	119.0	120.0					17																	37455310		2203	4300	6503	34708836	SO:0001587	stop_gained	84961	exon5			BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.262C>T	17.37:g.37455310G>A	ENSP00000264658:p.Arg88*		34708836	NM_032875	A8K729|Q38J52	Nonsense_Mutation	SNP	ENST00000264658.6	37	CCDS32640.1	.	.	.	.	.	.	.	.	.	.	G	36	5.972681	0.97162	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	.	.	.	5.68	3.55	0.40652	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7991	0.63188	0.0:0.0:0.6072:0.3928	.	.	.	.	X	88	.	ENSP00000264658:R88X	R	-	1	2	FBXL20	34708836	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.495000	0.53280	0.669000	0.31146	0.591000	0.81541	CGA		0.358	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875	
STARD3	10948	broad.mit.edu	37	17	37819094	37819094	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:37819094C>T	ENST00000336308.5	+	15	1489	c.1271C>T	c.(1270-1272)gCg>gTg	p.A424V	STARD3_ENST00000580611.1_Missense_Mutation_p.R406W|STARD3_ENST00000394250.4_Missense_Mutation_p.A406V|TCAP_ENST00000578283.1_5'Flank|TCAP_ENST00000309889.2_5'Flank|STARD3_ENST00000544210.2_Missense_Mutation_p.A424V	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	424	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)	p.A424V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CAGAGCCTCGCGGCCACCATG	0.677																																					p.A406V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1217T	17						.						102.0	96.0	98.0					17																	37819094		2203	4300	6503	35072620	SO:0001583	missense	10948	exon14				CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"""StAR-related lipid transfer (START) domain containing"""	17579	protein-coding gene	gene with protein product		607048	"""START domain containing 3"""				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.1271C>T	17.37:g.37819094C>T	ENSP00000337446:p.Ala424Val		35072620	NM_001165938	A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	ENST00000336308.5	37	CCDS11341.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969235	0.92855	.	.	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250	T;T;T	0.78246	-1.16;-1.16;-1.16	5.42	4.43	0.53597	Lipid-binding START (3);START-like domain (1);	0.360783	0.31335	N	0.007830	T	0.77294	0.4109	L	0.49350	1.555	0.30983	N	0.722235	D;D;D;P;P	0.69078	0.985;0.997;0.957;0.851;0.924	P;P;P;B;B	0.48627	0.464;0.584;0.583;0.256;0.4	T	0.79664	-0.1709	10	0.59425	D	0.04	.	14.0186	0.64539	0.0:0.7004:0.2996:0.0	.	424;189;424;406;424	F5H0G2;Q59EN9;B4DUY1;A8MXA4;Q14849	.;.;.;.;STAR3_HUMAN	V	424;424;406	ENSP00000337446:A424V;ENSP00000439869:A424V;ENSP00000377794:A406V	ENSP00000337446:A424V	A	+	2	0	STARD3	35072620	1.000000	0.71417	0.484000	0.27391	0.974000	0.67602	4.503000	0.60407	1.244000	0.43870	0.561000	0.74099	GCG		0.677	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1		
MSL1	339287	broad.mit.edu	37	17	38282467	38282467	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:38282467G>A	ENST00000398532.4	+	2	1115	c.800G>A	c.(799-801)cGg>cAg	p.R267Q	MSL1_ENST00000578648.1_Missense_Mutation_p.R267Q|MSL1_ENST00000577454.1_Missense_Mutation_p.R267Q|MSL1_ENST00000579565.1_Missense_Mutation_p.R4Q	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	267					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R66Q(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						ATGGAAAGGCGGATGCAGCTG	0.408																																					p.R4Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11A	17						.						85.0	84.0	84.0					17																	38282467		1932	4143	6075	35535993	SO:0001583	missense	339287	exon3				CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.800G>A	17.37:g.38282467G>A	ENSP00000381543:p.Arg267Gln		35535993	NM_001012241	Q0VF46|Q69Z03	Missense_Mutation	SNP	ENST00000398532.4	37		.	.	.	.	.	.	.	.	.	.	G	18.85	3.710423	0.68730	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.67401	0.2889	L	0.29908	0.895	0.58432	D	0.999999	D	0.69078	0.997	D	0.66847	0.947	T	0.69734	-0.5065	9	0.87932	D	0	-15.0974	19.6367	0.95736	0.0:0.0:1.0:0.0	.	267	Q68DK7	MSL1_HUMAN	Q	4;267	.	ENSP00000341409:R4Q	R	+	2	0	MSL1	35535993	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.231000	0.95317	2.735000	0.93741	0.655000	0.94253	CGG		0.408	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2	NM_001012241	
CASC3	22794	broad.mit.edu	37	17	38318158	38318158	+	Silent	SNP	C	C	T	rs369031509		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:38318158C>T	ENST00000264645.7	+	4	676	c.450C>T	c.(448-450)gaC>gaT	p.D150D		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	150	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)	p.D150D(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AAAGTGGGGACGGACAGGTTA	0.448																																					p.D150D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C450T	17						.	C		0,4406		0,0,2203	108.0	105.0	106.0		450	2.6	1.0	17		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CASC3	NM_007359.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		150/704	38318158	1,13005	2203	4300	6503	35571684	SO:0001819	synonymous_variant	22794	exon4			X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.450C>T	17.37:g.38318158C>T			35571684	NM_007359	A8K8R0	Silent	SNP	ENST00000264645.7	37	CCDS11362.1																																																																																				0.448	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359	
KRT26	353288	broad.mit.edu	37	17	38926571	38926571	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:38926571G>A	ENST00000335552.4	-	3	663	c.615C>T	c.(613-615)acC>acT	p.T205T		NM_181539.4	NP_853517.2			keratin 26									p.T205T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TCTCCAGGTCGGTTGTACAAA	0.483																																					p.T205T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C615T	17						.						151.0	143.0	146.0					17																	38926571		2203	4300	6503	36180097	SO:0001819	synonymous_variant	353288	exon3			AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.615C>T	17.37:g.38926571G>A			36180097	NM_181539		Silent	SNP	ENST00000335552.4	37	CCDS11374.1																																																																																				0.483	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539	
KRT33B	3884	broad.mit.edu	37	17	39521517	39521517	+	Silent	SNP	C	C	T	rs553149537	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:39521517C>T	ENST00000251646.3	-	5	835	c.786G>A	c.(784-786)tcG>tcA	p.S262S		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	262	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)	p.S262S(1)		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)				GCAGCTGCTCCGAGCTGGATA	0.617													C|||	4	0.000798722	0.0008	0.0	5008	,	,		18679	0.0		0.0	False		,,,				2504	0.0031				p.S262S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G786A	17						.						51.0	51.0	51.0					17																	39521517		2189	4298	6487	36775043	SO:0001819	synonymous_variant	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.786G>A	17.37:g.39521517C>T			36775043	NM_002279	O76010	Silent	SNP	ENST00000251646.3	37	CCDS11389.1																																																																																				0.617	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279	
KRT31	3881	broad.mit.edu	37	17	39553527	39553527	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:39553527G>A	ENST00000251645.2	-	1	317	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	89	Coil 1A.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)	p.R89W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GACCGCTCCCGGATGAGGTTC	0.587																																					p.R89W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C265T	17						.						68.0	66.0	67.0					17																	39553527		2203	4299	6502	36807053	SO:0001583	missense	3881	exon1			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.265C>T	17.37:g.39553527G>A	ENSP00000251645:p.Arg89Trp		36807053	NM_002277	Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	g	16.96	3.266717	0.59540	.	.	ENSG00000094796	ENST00000251645	D	0.89485	-2.52	5.91	5.91	0.95273	Filament (1);	0.752987	0.12219	N	0.488581	D	0.92896	0.7740	M	0.73319	2.225	0.30799	N	0.740079	D	0.64830	0.994	P	0.58077	0.832	D	0.90635	0.4570	10	0.87932	D	0	.	14.1665	0.65480	0.0:0.0:0.8505:0.1495	.	89	Q15323	K1H1_HUMAN	W	89	ENSP00000251645:R89W	ENSP00000251645:R89W	R	-	1	2	KRT31	36807053	0.949000	0.32298	0.998000	0.56505	0.548000	0.35241	1.437000	0.34991	2.808000	0.96608	0.655000	0.94253	CGG		0.587	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277	
KRT15	3866	broad.mit.edu	37	17	39673066	39673066	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:39673066G>A	ENST00000254043.3	-	3	4317	c.732C>T	c.(730-732)caC>caT	p.H244H	KRT15_ENST00000393981.3_Silent_p.H79H|KRT15_ENST00000393976.2_Silent_p.H244H|KRT15_ENST00000393974.3_Silent_p.H79H	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	244	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.H244H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCACCTCTTCGTGGTTCTTCT	0.577																																					p.H244H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C732T	17						.						88.0	76.0	80.0					17																	39673066		2203	4300	6503	36926592	SO:0001819	synonymous_variant	3866	exon3				CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.732C>T	17.37:g.39673066G>A			36926592	NM_002275	B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Silent	SNP	ENST00000254043.3	37	CCDS11398.1																																																																																				0.577	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275	
JUP	3728	broad.mit.edu	37	17	39921291	39921291	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:39921291T>C	ENST00000393931.3	-	6	1056	c.938A>G	c.(937-939)cAg>cGg	p.Q313R	JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.Q313R|JUP_ENST00000393930.1_Missense_Mutation_p.Q313R	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	313					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)	p.Q313R(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CACGAGGGCCTGGGGCCCACC	0.542																																					p.Q313R	Colon(16;42 520 6044 17852 28530)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A938G	17						.						113.0	96.0	102.0					17																	39921291		2203	4300	6503	37174817	SO:0001583	missense	3728	exon6			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.938A>G	17.37:g.39921291T>C	ENSP00000377508:p.Gln313Arg		37174817	NM_021991	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.784083	0.31593	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.64618	-0.11;-0.11;-0.11	5.84	5.84	0.93424	Armadillo-like helical (1);Armadillo-type fold (1);	0.054680	0.64402	D	0.000001	T	0.50222	0.1603	L	0.28740	0.885	0.80722	D	1	B	0.23891	0.093	B	0.24848	0.056	T	0.45086	-0.9285	10	0.15499	T	0.54	-29.6995	15.0509	0.71867	0.0:0.0:0.0:1.0	.	313	P14923	PLAK_HUMAN	R	313	ENSP00000377507:Q313R;ENSP00000311113:Q313R;ENSP00000377508:Q313R	ENSP00000311113:Q313R	Q	-	2	0	JUP	37174817	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.101000	0.71479	2.243000	0.73865	0.533000	0.62120	CAG		0.542	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1		
FKBP10	60681	broad.mit.edu	37	17	39973363	39973363	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:39973363C>A	ENST00000321562.4	+	2	403	c.299C>A	c.(298-300)aCt>aAt	p.T100N	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	100	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.T100N(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CGCCTCATCACTGGCATGGAC	0.622																																					p.T100N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C299A	17						.						132.0	102.0	112.0					17																	39973363		2203	4300	6503	37226889	SO:0001583	missense	60681	exon2			AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.299C>A	17.37:g.39973363C>A	ENSP00000317232:p.Thr100Asn		37226889	NM_021939	Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	37	CCDS11409.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202039	0.79127	.	.	ENSG00000141756	ENST00000269598;ENST00000429461;ENST00000321562;ENST00000414352	D;D	0.85556	-2.0;-2.0	5.13	5.13	0.70059	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.068540	0.56097	D	0.000022	D	0.88232	0.6381	L	0.36672	1.1	0.80722	D	1	P	0.51240	0.943	P	0.60236	0.871	D	0.89370	0.3674	10	0.66056	D	0.02	-13.7107	18.5825	0.91177	0.0:1.0:0.0:0.0	.	100	Q96AY3	FKB10_HUMAN	N	100;40;100;100	ENSP00000408232:T40N;ENSP00000317232:T100N	ENSP00000269598:T100N	T	+	2	0	FKBP10	37226889	0.998000	0.40836	0.956000	0.39512	0.900000	0.52787	3.898000	0.56281	2.408000	0.81797	0.561000	0.74099	ACT		0.622	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939	
FAM134C	162427	broad.mit.edu	37	17	40734159	40734159	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:40734159T>C	ENST00000309428.5	-	9	1132	c.1073A>G	c.(1072-1074)tAc>tGc	p.Y358C	FAM134C_ENST00000543197.1_Missense_Mutation_p.Y163C|FAM134C_ENST00000585894.1_Missense_Mutation_p.Y261C	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	358						integral component of membrane (GO:0016021)		p.Y358C(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		CGGAGAACGGTACATCAAGCT	0.607																																					p.Y358C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1073G	17						.						80.0	80.0	80.0					17																	40734159		2203	4300	6503	37987685	SO:0001583	missense	162427	exon9			BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.1073A>G	17.37:g.40734159T>C	ENSP00000309432:p.Tyr358Cys		37987685	NM_178126	B3KR75	Missense_Mutation	SNP	ENST00000309428.5	37	CCDS11432.1	.	.	.	.	.	.	.	.	.	.	T	10.98	1.503403	0.26949	.	.	ENSG00000141699	ENST00000309428;ENST00000543197	T;T	0.44083	0.93;0.94	6.04	-0.762	0.11034	.	0.614786	0.16692	N	0.203481	T	0.25121	0.0610	L	0.36672	1.1	0.21064	N	0.999796	B	0.06786	0.001	B	0.04013	0.001	T	0.11567	-1.0582	10	0.39692	T	0.17	-4.1114	2.8115	0.05443	0.2273:0.0667:0.3465:0.3595	.	358	Q86VR2	F134C_HUMAN	C	358;163	ENSP00000309432:Y358C;ENSP00000446235:Y163C	ENSP00000309432:Y358C	Y	-	2	0	FAM134C	37987685	0.997000	0.39634	0.966000	0.40874	0.131000	0.20780	0.187000	0.16998	-0.117000	0.11872	0.460000	0.39030	TAC		0.607	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126	
TMEM106A	113277	broad.mit.edu	37	17	41365218	41365218	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:41365218A>G	ENST00000331615.3	+	3	395	c.158A>G	c.(157-159)gAt>gGt	p.D53G	TMEM106A_ENST00000588659.1_Missense_Mutation_p.D53G|TMEM106A_ENST00000536052.1_Missense_Mutation_p.D53G|TMEM106A_ENST00000592564.1_3'UTR|TMEM106A_ENST00000541594.1_Missense_Mutation_p.D5G	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	53						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.D53G(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		GGAACTGCTGATGCCAGCTTC	0.547																																					p.D53G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A158G	17						.						143.0	129.0	134.0					17																	41365218		2203	4296	6499	38720744	SO:0001583	missense	113277	exon3			AK056132	CCDS11462.1, CCDS74073.1	17q21.31	2012-01-23			ENSG00000184988	ENSG00000184988			28288	protein-coding gene	gene with protein product							Standard	XM_006721658		Approved	MGC20235	uc002idn.1	Q96A25		ENST00000331615.3:c.158A>G	17.37:g.41365218A>G	ENSP00000330774:p.Asp53Gly		38720744	NM_145041	A8K2X2|B7Z698	Missense_Mutation	SNP	ENST00000331615.3	37	CCDS11462.1	.	.	.	.	.	.	.	.	.	.	a	0.022	-1.406801	0.01155	.	.	ENSG00000184988	ENST00000331615;ENST00000536052;ENST00000541594	T;T;T	0.21361	3.45;3.45;2.01	4.19	1.03	0.20045	.	0.612744	0.16845	N	0.197179	T	0.02727	0.0082	N	0.00077	-2.24	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.42982	-0.9419	10	0.02654	T	1	-6.6814	5.7509	0.18146	0.1844:0.1603:0.6553:0.0	.	53;5;53	B7Z779;B7Z698;Q96A25	.;.;T106A_HUMAN	G	53;53;5	ENSP00000330774:D53G;ENSP00000439835:D53G;ENSP00000439844:D5G	ENSP00000330774:D53G	D	+	2	0	TMEM106A	38720744	0.000000	0.05858	0.001000	0.08648	0.639000	0.38242	0.362000	0.20284	0.281000	0.22233	-0.140000	0.14226	GAT		0.547	TMEM106A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453470.2	NM_145041	
RUNDC3A	10900	broad.mit.edu	37	17	42392346	42392346	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:42392346G>A	ENST00000426726.3	+	6	872	c.598G>A	c.(598-600)Gat>Aat	p.D200N	RUNDC3A_ENST00000590941.1_Missense_Mutation_p.D195N|RUNDC3A_ENST00000225441.7_Missense_Mutation_p.D200N|AC003102.3_ENST00000588097.1_RNA	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	200	Interaction with RAP2A. {ECO:0000250}.				positive regulation of cGMP biosynthetic process (GO:0030828)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanylate cyclase activator activity (GO:0030250)|small GTPase regulator activity (GO:0005083)	p.D200N(1)		large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGTGGTCATCGATTACACGCC	0.647																																					p.D200N	Pancreas(82;1061 1416 11136 20771 23901)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G598A	17						.						70.0	75.0	73.0					17																	42392346		1956	4136	6092	39747872	SO:0001583	missense	10900	exon6			AF055026	CCDS45698.1, CCDS45699.1, CCDS59294.1	17q21.31	2008-02-05			ENSG00000108309	ENSG00000108309			16984	protein-coding gene	gene with protein product		605448				9523700	Standard	NM_006695		Approved	RPIP8, RAP2IP	uc002igl.4	Q59EK9	OTTHUMG00000169259	ENST00000426726.3:c.598G>A	17.37:g.42392346G>A	ENSP00000410862:p.Asp200Asn		39747872	NM_001144825	B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Missense_Mutation	SNP	ENST00000426726.3	37	CCDS45698.1	.	.	.	.	.	.	.	.	.	.	g	32	5.110781	0.94292	.	.	ENSG00000108309	ENST00000426726;ENST00000225441	T;T	0.40225	1.48;1.04	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.61080	0.989;0.978;0.978;0.978	P;P;P;P	0.51895	0.516;0.683;0.683;0.683	T	0.57271	-0.7840	10	0.52906	T	0.07	-10.2913	15.4751	0.75471	0.0:0.0:1.0:0.0	.	200;200;195;200	Q59EK9;Q59EK9-4;Q59EK9-2;Q59EK9-3	RUN3A_HUMAN;.;.;.	N	200	ENSP00000410862:D200N;ENSP00000225441:D200N	ENSP00000225441:D200N	D	+	1	0	RUNDC3A	39747872	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.387000	0.79785	2.179000	0.69175	0.407000	0.27541	GAT		0.647	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403173.2	NM_006695	
SPNS2	124976	broad.mit.edu	37	17	4435856	4435856	+	Missense_Mutation	SNP	T	T	C	rs377354502		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:4435856T>C	ENST00000329078.3	+	6	1022	c.812T>C	c.(811-813)aTg>aCg	p.M271T		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	271					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)	p.M271T(1)		large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						GTCCTGGGCATGATCACAGGA	0.617																																					p.M271T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T812C	17						.						76.0	74.0	75.0					17																	4435856		1568	3582	5150	4382605	SO:0001583	missense	124976	exon6			BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.812T>C	17.37:g.4435856T>C	ENSP00000333292:p.Met271Thr		4382605	NM_001124758	B9A1T3	Missense_Mutation	SNP	ENST00000329078.3	37	CCDS42237.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.855821	0.51376	.	.	ENSG00000183018	ENST00000329078	T	0.57273	0.41	5.09	5.09	0.68999	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.093300	0.64402	D	0.000001	T	0.43722	0.1260	L	0.32530	0.975	0.47037	D	0.999292	B	0.22003	0.063	B	0.19391	0.025	T	0.40646	-0.9552	10	0.66056	D	0.02	.	13.6925	0.62556	0.0:0.0:0.0:1.0	.	271	Q8IVW8	SPNS2_HUMAN	T	271	ENSP00000333292:M271T	ENSP00000333292:M271T	M	+	2	0	SPNS2	4382605	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.371000	0.79600	1.924000	0.55735	0.459000	0.35465	ATG		0.617	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1		
CRHR1	1394	broad.mit.edu	37	17	43907809	43907809	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:43907809C>T	ENST00000398285.3	+	8	669	c.669C>T	c.(667-669)gcC>gcT	p.A223A	CRHR1_ENST00000352855.5_Silent_p.A154A|CRHR1_ENST00000314537.5_Silent_p.A194A|CRHR1_ENST00000577353.1_Silent_p.A194A|CRHR1_ENST00000339069.5_Silent_p.A93A|CRHR1_ENST00000293493.7_Silent_p.A19A	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	223					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)	p.A194A(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TGACAGCCGCCTACAACTACT	0.632																																					p.A154A	Ovarian(110;57 1568 10207 38216 49865)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C462T	17						.						66.0	69.0	68.0					17																	43907809		2197	4300	6497	41263590	SO:0001819	synonymous_variant	1394	exon6			L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.669C>T	17.37:g.43907809C>T			41263590	NM_001145147	B4DIE9|Q13008|Q4QRJ1|Q9UK64	Silent	SNP	ENST00000398285.3	37	CCDS45712.1																																																																																				0.632	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3		
PHB	5245	broad.mit.edu	37	17	47486739	47486739	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:47486739T>G	ENST00000300408.3	-	4	419	c.347A>C	c.(346-348)gAg>gCg	p.E116A	PHB_ENST00000511832.1_Missense_Mutation_p.E116A|PHB_ENST00000508009.1_5'UTR|RP11-81K2.1_ENST00000576461.1_Intron	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	116					cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)	p.E116A(1)		endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			CAGCACACGCTCATCATAGTC	0.562																																					p.E116A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A347C	17						.						87.0	80.0	83.0					17																	47486739		2203	4300	6503	44841738	SO:0001583	missense	5245	exon4				CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.347A>C	17.37:g.47486739T>G	ENSP00000300408:p.Glu116Ala		44841738	NM_002634	B4DY47|Q4VBQ0	Missense_Mutation	SNP	ENST00000300408.3	37	CCDS11548.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.624692	0.87560	.	.	ENSG00000167085	ENST00000300408;ENST00000511832;ENST00000419140;ENST00000504124;ENST00000512041;ENST00000446735;ENST00000434917	D;D;D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57	4.95	4.95	0.65309	.	0.047916	0.85682	D	0.000000	D	0.97164	0.9073	M	0.87900	2.915	0.80722	D	1	D	0.59357	0.985	D	0.65233	0.933	D	0.97902	1.0303	10	0.87932	D	0	.	14.2643	0.66107	0.0:0.0:0.0:1.0	.	116	P35232	PHB_HUMAN	A	116	ENSP00000300408:E116A;ENSP00000425035:E116A;ENSP00000393320:E116A;ENSP00000426433:E116A;ENSP00000422182:E116A;ENSP00000407828:E116A;ENSP00000410680:E116A	ENSP00000300408:E116A	E	-	2	0	PHB	44841738	1.000000	0.71417	0.988000	0.46212	0.827000	0.46813	7.966000	0.87956	1.856000	0.53863	0.379000	0.24179	GAG		0.562	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258826.1	NM_002634	
RSAD1	55316	broad.mit.edu	37	17	48562123	48562123	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:48562123G>T	ENST00000258955.2	+	9	1315	c.1230G>T	c.(1228-1230)tgG>tgT	p.W410C		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	410					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)	p.W410C(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGTGTTCCTGGGAGGGTCTGG	0.592																																					p.W410C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1230T	17						.						82.0	72.0	75.0					17																	48562123		2203	4300	6503	45917122	SO:0001583	missense	55316	exon9			AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.1230G>T	17.37:g.48562123G>T	ENSP00000258955:p.Trp410Cys		45917122	NM_018346	B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Missense_Mutation	SNP	ENST00000258955.2	37	CCDS11569.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865014	0.71949	.	.	ENSG00000136444	ENST00000258955	T	0.41758	0.99	5.76	5.76	0.90799	HemN, C-terminal (1);	0.062472	0.64402	D	0.000002	T	0.48003	0.1476	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58115	-0.7693	10	0.56958	D	0.05	-22.2587	19.565	0.95389	0.0:0.0:1.0:0.0	.	410	Q9HA92	RSAD1_HUMAN	C	410	ENSP00000258955:W410C	ENSP00000258955:W410C	W	+	3	0	RSAD1	45917122	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.498000	0.90492	2.709000	0.92574	0.655000	0.94253	TGG		0.592	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367413.1	NM_018346	
MYCBPAP	84073	broad.mit.edu	37	17	48598737	48598737	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:48598737G>A	ENST00000323776.5	+	9	1384	c.1222G>A	c.(1222-1224)Gac>Aac	p.D408N	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.D371N	NM_032133.4	NP_115509.4			MYCBP associated protein									p.D371N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TACTGTGGAAGACTACACAGT	0.522																																					p.D408N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1222A	17						.						83.0	84.0	84.0					17																	48598737		2203	4300	6503	45953736	SO:0001583	missense	84073	exon9			BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1222G>A	17.37:g.48598737G>A	ENSP00000323184:p.Asp408Asn		45953736	NM_032133		Missense_Mutation	SNP	ENST00000323776.5	37	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739692	0.30865	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.48201	0.82;0.82	5.51	2.32	0.28847	.	0.563693	0.17833	N	0.160446	T	0.31358	0.0794	L	0.50919	1.6	0.22693	N	0.998845	P;P	0.37276	0.589;0.589	B;B	0.32677	0.15;0.15	T	0.15093	-1.0449	10	0.33940	T	0.23	-15.9885	1.4997	0.02474	0.1916:0.1784:0.4672:0.1629	.	371;408	Q8TBZ2;B4DZQ1	MYBPP_HUMAN;.	N	408;371	ENSP00000323184:D408N;ENSP00000397209:D371N	ENSP00000323184:D408N	D	+	1	0	MYCBPAP	45953736	1.000000	0.71417	0.919000	0.36401	0.156000	0.22039	2.891000	0.48617	1.331000	0.45412	0.650000	0.86243	GAC		0.522	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133	
VMO1	284013	broad.mit.edu	37	17	4689332	4689332	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:4689332C>A	ENST00000328739.5	-	2	290	c.211G>T	c.(211-213)Ggc>Tgc	p.G71C	GLTPD2_ENST00000331264.7_5'Flank|VMO1_ENST00000416307.2_Missense_Mutation_p.G71C|VMO1_ENST00000441199.2_Missense_Mutation_p.G71C|VMO1_ENST00000354194.4_Intron	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	71						extracellular vesicular exosome (GO:0070062)		p.G71C(1)		kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						CCAGGAATGCCTTGGGGAGGC	0.612																																					p.G71C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G211T	17						.						723.0	657.0	680.0					17																	4689332		2203	4300	6503	4636072	SO:0001583	missense	284013	exon2			AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.211G>T	17.37:g.4689332C>A	ENSP00000328397:p.Gly71Cys		4636072	NM_182566	C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Missense_Mutation	SNP	ENST00000328739.5	37	CCDS11055.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336414	0.41398	.	.	ENSG00000182853	ENST00000328739;ENST00000416307;ENST00000441199	T;T;T	0.52526	0.66;0.66;0.66	4.65	4.65	0.58169	.	0.064531	0.64402	D	0.000016	T	0.70150	0.3191	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.992;0.998;0.998	T	0.74484	-0.3650	10	0.59425	D	0.04	-26.1569	12.8902	0.58068	0.0:1.0:0.0:0.0	.	71;71;71	C9JQ15;E9PAU9;Q7Z5L0	.;.;VMO1_HUMAN	C	71	ENSP00000328397:G71C;ENSP00000390450:G71C;ENSP00000408166:G71C	ENSP00000328397:G71C	G	-	1	0	VMO1	4636072	1.000000	0.71417	0.970000	0.41538	0.045000	0.14185	3.070000	0.50033	2.405000	0.81733	0.563000	0.77884	GGC		0.612	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439587.1	NM_182566	
CACNA1G	8913	broad.mit.edu	37	17	48646309	48646309	+	Silent	SNP	C	C	T	rs529908416		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:48646309C>T	ENST00000359106.5	+	2	321	c.321C>T	c.(319-321)atC>atT	p.I107I	CACNA1G_ENST00000502264.1_Silent_p.I107I|CACNA1G_ENST00000514181.1_Silent_p.I107I|CACNA1G_ENST00000510115.1_Silent_p.I107I|CACNA1G_ENST00000514079.1_Silent_p.I107I|CACNA1G_ENST00000507896.1_Silent_p.I107I|CACNA1G_ENST00000352832.5_Silent_p.I107I|CACNA1G_ENST00000358244.5_Silent_p.I107I|CACNA1G_ENST00000515411.1_Silent_p.I107I|CACNA1G_ENST00000514717.1_Silent_p.I107I|CACNA1G_ENST00000505165.1_Silent_p.I107I|CACNA1G_ENST00000512389.1_Silent_p.I107I|CACNA1G_ENST00000442258.2_Silent_p.I107I|CACNA1G_ENST00000513964.1_Silent_p.I107I|CACNA1G_ENST00000503485.1_Silent_p.I107I|CACNA1G_ENST00000429973.2_Silent_p.I107I|CACNA1G_ENST00000360761.4_Silent_p.I107I|CACNA1G_ENST00000515765.1_Silent_p.I107I|CACNA1G_ENST00000416767.4_Silent_p.I107I|CACNA1G_ENST00000354983.4_Silent_p.I107I|CACNA1G_ENST00000507609.1_Silent_p.I107I|CACNA1G_ENST00000507510.2_Silent_p.I107I|CACNA1G_ENST00000513689.2_Silent_p.I107I|CACNA1G_ENST00000510366.1_Silent_p.I107I|CACNA1G_ENST00000515165.1_Silent_p.I107I|CACNA1G_ENST00000507336.1_Silent_p.I107I	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	107					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.I107I(3)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCGAGGACATCGCCTGTGACT	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16059	0.0		0.0	False		,,,				2504	0.0				p.I107I												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C321T	17						.						76.0	75.0	75.0					17																	48646309		2159	4260	6419	46001308	SO:0001819	synonymous_variant	8913	exon2			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.321C>T	17.37:g.48646309C>T			46001308	NM_198382	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	CCDS45730.1																																																																																				0.562	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896	
BZRAP1	9256	broad.mit.edu	37	17	56385076	56385076	+	Missense_Mutation	SNP	C	C	T	rs199511069	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:56385076C>T	ENST00000343736.4	-	24	5042	c.4879G>A	c.(4879-4881)Gtc>Atc	p.V1627I	BZRAP1_ENST00000355701.3_Missense_Mutation_p.V1627I|BZRAP1_ENST00000268893.6_Missense_Mutation_p.V1567I			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1627	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)	p.V1627I(4)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGATCCTGACGGGTAGGTGC	0.587													C|||	3	0.000599042	0.0008	0.0	5008	,	,		21619	0.0		0.001	False		,,,				2504	0.001				p.V1627I												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G4879A	17						.						137.0	108.0	118.0					17																	56385076		2203	4300	6503	53740075	SO:0001583	missense	9256	exon24			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4879G>A	17.37:g.56385076C>T	ENSP00000345824:p.Val1627Ile		53740075	NM_004758	O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	CCDS11605.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	16.57	3.159670	0.57368	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.29917	1.55;1.55;1.55	5.27	1.08	0.20341	Src homology-3 domain (2);	0.403453	0.26731	N	0.022788	T	0.19725	0.0474	L	0.43152	1.355	0.09310	N	1	B;P;P	0.49358	0.07;0.923;0.85	B;B;B	0.40565	0.005;0.333;0.123	T	0.14364	-1.0475	10	0.27785	T	0.31	.	5.0521	0.14514	0.1369:0.5504:0.0:0.3127	.	1627;1567;1627	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	I	1627;1627;1567	ENSP00000347929:V1627I;ENSP00000345824:V1627I;ENSP00000268893:V1567I	ENSP00000268893:V1567I	V	-	1	0	BZRAP1	53740075	0.014000	0.17966	0.074000	0.20217	0.951000	0.60555	0.506000	0.22658	0.093000	0.17368	0.655000	0.94253	GTC		0.587	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758	
TRIM37	4591	broad.mit.edu	37	17	57157199	57157199	+	Missense_Mutation	SNP	G	G	A	rs113609806		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:57157199G>A	ENST00000262294.7	-	7	791	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	TRIM37_ENST00000393065.2_Missense_Mutation_p.R144C|TRIM37_ENST00000393066.3_Missense_Mutation_p.R178C|TRIM37_ENST00000376149.3_Missense_Mutation_p.R56C	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	178					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R178C(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCCCGAACACGCTCATCTTTT	0.358									Mulibrey Nanism																												p.R178C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C532T	17						.						236.0	193.0	207.0					17																	57157199		2203	4300	6503	54511981	SO:0001583	missense	4591	exon7	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.532C>T	17.37:g.57157199G>A	ENSP00000262294:p.Arg178Cys		54511981	NM_001005207	Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368777	0.42003	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.67865	1.54;1.54;-0.29;1.13	5.62	5.62	0.85841	B-box, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.83229	0.5209	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.99;0.997;0.943	D	0.84708	0.0732	10	0.87932	D	0	-15.0493	19.6432	0.95764	0.0:0.0:1.0:0.0	.	144;56;178	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	C	178;178;56;144	ENSP00000376785:R178C;ENSP00000262294:R178C;ENSP00000365319:R56C;ENSP00000376784:R144C	ENSP00000262294:R178C	R	-	1	0	TRIM37	54511981	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.167000	0.71902	2.641000	0.89580	0.591000	0.81541	CGT		0.358	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294	
SCN4A	6329	broad.mit.edu	37	17	62038744	62038744	+	Missense_Mutation	SNP	C	C	T	rs552714913		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:62038744C>T	ENST00000435607.1	-	11	1730	c.1654G>A	c.(1654-1656)Gcc>Acc	p.A552T	SCN4A_ENST00000578147.1_Missense_Mutation_p.A552T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	552					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A552T(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACTTTGTGGGCGCACTTGTAC	0.572													c|||	1	0.000199681	0.0	0.0	5008	,	,		12498	0.0		0.001	False		,,,				2504	0.0				p.A552T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1654A	17						.						192.0	195.0	194.0					17																	62038744		2032	4185	6217	59392476	SO:0001583	missense	6329	exon11			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.1654G>A	17.37:g.62038744C>T	ENSP00000396320:p.Ala552Thr		59392476	NM_000334	Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	c	18.19	3.568611	0.65651	.	.	ENSG00000007314	ENST00000435607	D	0.96587	-4.06	4.29	1.0	0.19881	.	0.112431	0.64402	D	0.000011	D	0.93566	0.7946	L	0.52126	1.63	0.46044	D	0.998838	B	0.17852	0.024	B	0.21917	0.037	D	0.87937	0.2714	10	0.54805	T	0.06	.	12.1974	0.54305	0.4652:0.5348:0.0:0.0	.	552	P35499	SCN4A_HUMAN	T	552	ENSP00000396320:A552T	ENSP00000396320:A552T	A	-	1	0	SCN4A	59392476	0.952000	0.32445	0.454000	0.27019	0.977000	0.68977	2.079000	0.41577	0.065000	0.16485	0.457000	0.33378	GCC		0.572	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	
WSCD1	23302	broad.mit.edu	37	17	6023795	6023795	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:6023795G>T	ENST00000574946.1	+	9	1932	c.1542G>T	c.(1540-1542)gaG>gaT	p.E514D	WSCD1_ENST00000574232.1_Missense_Mutation_p.E514D|WSCD1_ENST00000539421.1_Missense_Mutation_p.E514D|WSCD1_ENST00000317744.5_Missense_Mutation_p.E514D|WSCD1_ENST00000573634.1_Missense_Mutation_p.E398D			Q658N2	WSCD1_HUMAN	WSC domain containing 1	514						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.E514D(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CTGTGAGCGAGGAGCGGCTGC	0.667																																					p.E514D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1542T	17						.						77.0	73.0	75.0					17																	6023795		2203	4300	6503	5964519	SO:0001583	missense	23302	exon9				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1542G>T	17.37:g.6023795G>T	ENSP00000460825:p.Glu514Asp		5964519	NM_015253	A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216848	0.79352	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	D;D	0.83335	-1.71;-1.71	5.54	3.54	0.40534	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.86489	0.5945	M	0.65320	2	0.52501	D	0.999955	D	0.76494	0.999	D	0.70227	0.968	D	0.83900	0.0289	10	0.49607	T	0.09	-38.05	5.3089	0.15819	0.1665:0.0:0.6697:0.1638	.	514	Q658N2	WSCD1_HUMAN	D	514	ENSP00000323087:E514D;ENSP00000446032:E514D	ENSP00000323087:E514D	E	+	3	2	WSCD1	5964519	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.310000	0.65780	0.698000	0.31739	0.655000	0.94253	GAG		0.667	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253	
ERN1	2081	broad.mit.edu	37	17	62133186	62133186	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:62133186G>A	ENST00000433197.3	-	13	1616	c.1521C>T	c.(1519-1521)gaC>gaT	p.D507D		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1									p.D507D(1)		central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GGAGCTCGCCGTCCTGAGCCG	0.657																																					p.D507D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1521T	17						.						9.0	11.0	10.0					17																	62133186		2077	4189	6266	59486918	SO:0001819	synonymous_variant	2081	exon13			AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.1521C>T	17.37:g.62133186G>A			59486918	NM_001433		Silent	SNP	ENST00000433197.3	37	CCDS45762.1																																																																																				0.657	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433	
RGS9	8787	broad.mit.edu	37	17	63221384	63221384	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:63221384G>A	ENST00000262406.9	+	18	1739	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	RGS9_ENST00000449996.3_Missense_Mutation_p.E555K|RGS9_ENST00000443584.3_Missense_Mutation_p.E555K	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	558					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.E558K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CGAGAGCAGCGAGGCCTCCCT	0.667																																					p.E558K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1672A	17						.						69.0	76.0	74.0					17																	63221384		1951	4144	6095	60651846	SO:0001583	missense	8787	exon18			AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1672G>A	17.37:g.63221384G>A	ENSP00000262406:p.Glu558Lys		60651846	NM_003835	A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	G	7.589	0.670398	0.14776	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.33654	1.41;1.4	4.66	2.51	0.30379	.	0.616446	0.15022	N	0.284941	T	0.32615	0.0835	L	0.47716	1.5	0.09310	N	1	B;B;B	0.25743	0.063;0.063;0.133	B;B;B	0.26770	0.016;0.016;0.073	T	0.17715	-1.0360	10	0.30854	T	0.27	.	13.8214	0.63322	0.0:0.2941:0.7059:0.0	.	558;558;555	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	K	558;555	ENSP00000262406:E558K;ENSP00000396329:E555K	ENSP00000262406:E558K	E	+	1	0	RGS9	60651846	0.034000	0.19679	0.000000	0.03702	0.003000	0.03518	2.532000	0.45659	0.561000	0.29186	0.561000	0.74099	GAG		0.667	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835	
CEP112	201134	broad.mit.edu	37	17	63633296	63633296	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:63633296A>G	ENST00000392769.2	-	26	3028	c.2810T>C	c.(2809-2811)cTg>cCg	p.L937P	CEP112_ENST00000541355.1_Missense_Mutation_p.L501P|CEP112_ENST00000317442.8_Missense_Mutation_p.L193P|CEP112_ENST00000535342.2_Missense_Mutation_p.L937P|CTD-2535L24.2_ENST00000577662.1_Silent_p.S27S|CEP112_ENST00000537949.1_Missense_Mutation_p.L895P	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	937					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)		p.L937P(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TCTCTTTTGCAGAAAATTAAC	0.393																																					p.L937P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2810C	17						.						128.0	112.0	118.0					17																	63633296		2203	4300	6503	61063758	SO:0001583	missense	201134	exon26			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2810T>C	17.37:g.63633296A>G	ENSP00000376522:p.Leu937Pro		61063758	NM_001199165	Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.919585	0.52653	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000317442;ENST00000541355;ENST00000537949	T;T;T;T	0.58652	0.37;0.37;0.32;0.37	5.19	5.19	0.71726	.	0.088581	0.46758	D	0.000279	T	0.71239	0.3316	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.74334	-0.3699	10	0.87932	D	0	-8.0754	13.9121	0.63873	1.0:0.0:0.0:0.0	.	895;895;937;193	F5GYE8;A2RRR7;Q8N8E3;Q8N8E3-2	.;.;CE112_HUMAN;.	P	937;937;193;501;895	ENSP00000442784:L937P;ENSP00000376522:L937P;ENSP00000443711:L501P;ENSP00000440775:L895P	ENSP00000320592:L193P	L	-	2	0	CEP112	61063758	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.220000	0.72237	2.089000	0.63090	0.533000	0.62120	CTG		0.393	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036	
HELZ	9931	broad.mit.edu	37	17	65141912	65141912	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:65141912G>A	ENST00000358691.5	-	21	2882	c.2716C>T	c.(2716-2718)Cga>Tga	p.R906*	HELZ_ENST00000580168.1_Nonsense_Mutation_p.R907*	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	906						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R906*(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCTTCTCCTCGTGCTGTAAAG	0.383																																					p.R906X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2716T	17						.						87.0	86.0	87.0					17																	65141912		1831	4081	5912	62572374	SO:0001587	stop_gained	9931	exon21			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2716C>T	17.37:g.65141912G>A	ENSP00000351524:p.Arg906*		62572374	NM_014877	I6L9H4	Nonsense_Mutation	SNP	ENST00000358691.5	37	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	42	9.635451	0.99226	.	.	ENSG00000198265	ENST00000358691	.	.	.	5.84	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0643	16.3668	0.83335	0.0:0.0:0.867:0.133	.	.	.	.	X	906	.	ENSP00000351524:R906X	R	-	1	2	HELZ	62572374	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.089000	0.64492	1.461000	0.47929	0.655000	0.94253	CGA		0.383	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877	
GPRC5C	55890	broad.mit.edu	37	17	72436011	72436011	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:72436011C>T	ENST00000481232.1	+	2	742	c.231C>T	c.(229-231)agC>agT	p.S77S	GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Silent_p.S44S|GPRC5C_ENST00000392627.1_Silent_p.S77S			Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	32					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)	p.S77S(1)		central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						CCGGCTGCAGCCAAGGCCTCA	0.657																																					p.S44S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C132T	17						.						61.0	55.0	57.0					17																	72436011		2203	4299	6502	69947606	SO:0001819	synonymous_variant	55890	exon2			AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000481232.1:c.231C>T	17.37:g.72436011C>T			69947606	NM_018653	B5BUN4|Q2NL85|Q9NZG5	Silent	SNP	ENST00000481232.1	37																																																																																					0.657	GPRC5C-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000145095.2		
CD300LB	124599	broad.mit.edu	37	17	72519742	72519742	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:72519742G>A	ENST00000392621.1	-	3	534	c.530C>T	c.(529-531)gCa>gTa	p.A177V	CD300LB_ENST00000314401.3_Missense_Mutation_p.A177V	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	140					cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A177V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GATGAACACTGCCATATTGCT	0.557																																					p.A177V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C530T	17						.						211.0	152.0	172.0					17																	72519742		2203	4300	6503	70031337	SO:0001583	missense	124599	exon3			AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"""Immunoglobulin superfamily / V-set domain containing"""	30811	protein-coding gene	gene with protein product	"""triggering receptor expressed on myeloid cells 5"""	610705	"""CD300 antigen like family member B"""			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.530C>T	17.37:g.72519742G>A	ENSP00000376397:p.Ala177Val		70031337	NM_174892	Q1EG73|Q8IX40|Q8N6D1	Missense_Mutation	SNP	ENST00000392621.1	37	CCDS11700.1	.	.	.	.	.	.	.	.	.	.	g	6.297	0.422918	0.11928	.	.	ENSG00000178789	ENST00000392621;ENST00000314401	T	0.05319	3.46	2.68	-5.29	0.02747	.	7.513570	0.00166	N	0.000004	T	0.03136	0.0092	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.08055	0.003;0.001	T	0.36456	-0.9747	10	0.21014	T	0.42	.	0.9169	0.01306	0.1576:0.2024:0.334:0.306	.	177;140	B4DQ71;A8K4G0	.;CLM7_HUMAN	V	140;177	ENSP00000317337:A177V	ENSP00000317337:A177V	A	-	2	0	CD300LB	70031337	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.667000	0.00846	-1.194000	0.02684	-0.235000	0.12190	GCA		0.557	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892	
DVL2	1856	broad.mit.edu	37	17	7130762	7130762	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:7130762G>A	ENST00000005340.5	-	12	1606	c.1324C>T	c.(1324-1326)Cgc>Tgc	p.R442C	DVL2_ENST00000574642.1_5'Flank|DVL2_ENST00000575458.1_Missense_Mutation_p.R436C	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	442	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)	p.R442C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						AGCCACATGCGGTCCCGGACT	0.612																																					p.R442C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1324T	17						.						72.0	75.0	74.0					17																	7130762		2203	4300	6503	7071486	SO:0001583	missense	1856	exon12			BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1324C>T	17.37:g.7130762G>A	ENSP00000005340:p.Arg442Cys		7071486	NM_004422	D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881932	0.91740	.	.	ENSG00000004975	ENST00000005340	T	0.28895	1.59	4.76	4.76	0.60689	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.67988	0.2952	H	0.96208	3.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79077	-0.1951	10	0.72032	D	0.01	-16.3986	15.2834	0.73806	0.0:0.0:1.0:0.0	.	436;442	B4DLQ0;O14641	.;DVL2_HUMAN	C	442	ENSP00000005340:R442C	ENSP00000005340:R442C	R	-	1	0	DVL2	7071486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.324000	0.65863	2.482000	0.83794	0.655000	0.94253	CGC		0.612	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422	
SLC16A5	9121	broad.mit.edu	37	17	73089869	73089869	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:73089869G>T	ENST00000450736.2	+	2	553	c.138G>T	c.(136-138)caG>caT	p.Q46H	SLC16A5_ENST00000538213.2_Missense_Mutation_p.Q86H|SLC16A5_ENST00000329783.4_Missense_Mutation_p.Q46H|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000580123.1_Missense_Mutation_p.Q46H			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	46					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.Q46H(1)		central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GGGAGTTCCAGGCCAGCAACA	0.617																																					p.Q46H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G138T	17						.						152.0	131.0	138.0					17																	73089869		2203	4300	6503	70601464	SO:0001583	missense	9121	exon3			U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.138G>T	17.37:g.73089869G>T	ENSP00000390564:p.Gln46His		70601464	NM_004695	B4E288	Missense_Mutation	SNP	ENST00000450736.2	37	CCDS11713.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.266423	0.23136	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	T;T;T	0.79845	-1.31;-1.31;-1.31	4.85	3.81	0.43845	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.057895	0.64402	D	0.000001	T	0.70456	0.3226	L	0.28649	0.875	0.47659	D	0.999482	B;B	0.30563	0.285;0.285	B;B	0.39590	0.178;0.304	T	0.62661	-0.6807	10	0.18710	T	0.47	.	7.8677	0.29547	0.2313:0.0:0.7687:0.0	.	86;46	B4E288;O15375	.;MOT6_HUMAN	H	46;46;86	ENSP00000330141:Q46H;ENSP00000390564:Q46H;ENSP00000440212:Q86H	ENSP00000330141:Q46H	Q	+	3	2	SLC16A5	70601464	0.967000	0.33354	1.000000	0.80357	0.836000	0.47400	0.058000	0.14301	2.523000	0.85059	0.591000	0.81541	CAG		0.617	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695	
KIAA0195	9772	broad.mit.edu	37	17	73486821	73486821	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:73486821G>A	ENST00000314256.7	+	11	1504	c.1110G>A	c.(1108-1110)acG>acA	p.T370T	KIAA0195_ENST00000579208.1_Silent_p.T21T|KIAA0195_ENST00000375248.5_Silent_p.T380T	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	370						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.T370T(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)			GCAGCTATACGGAGGCTGTCT	0.562																																					p.T370T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1110A	17						.						92.0	78.0	83.0					17																	73486821		2203	4300	6503	70998416	SO:0001819	synonymous_variant	9772	exon11				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.1110G>A	17.37:g.73486821G>A			70998416	NM_014738	O75536|Q86XF1	Silent	SNP	ENST00000314256.7	37	CCDS32732.1																																																																																				0.562	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738	
SPEM1	374768	broad.mit.edu	37	17	7324326	7324326	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:7324326G>A	ENST00000323675.3	+	3	357	c.332G>A	c.(331-333)cGc>cAc	p.R111H	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	111					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R60H(1)|p.R111H(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				CCAGCTCACCGCCATCGCCGT	0.607																																					p.R111H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G332A	17						.						71.0	78.0	75.0					17																	7324326		2134	4235	6369	7265050	SO:0001583	missense	374768	exon3			AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"""chromosome 17 open reading frame 83"""	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.332G>A	17.37:g.7324326G>A	ENSP00000315554:p.Arg111His		7265050	NM_199339		Missense_Mutation	SNP	ENST00000323675.3	37	CCDS42254.1	.	.	.	.	.	.	.	.	.	.	G	9.118	1.008193	0.19199	.	.	ENSG00000181323	ENST00000323383;ENST00000323675	.	.	.	5.55	-3.74	0.04385	.	0.623793	0.14272	N	0.330061	T	0.32556	0.0833	L	0.32530	0.975	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22906	-1.0203	9	0.62326	D	0.03	-3.3555	11.1277	0.48328	0.6498:0.0:0.3502:0.0	.	111	Q8N4L4	SPEM1_HUMAN	H	60;111	.	ENSP00000315511:R60H	R	+	2	0	SPEM1	7265050	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.121000	0.10643	-0.715000	0.04968	-1.578000	0.00866	CGC		0.607	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	NM_199339	
CDK3	1018	broad.mit.edu	37	17	73997996	73997996	+	Missense_Mutation	SNP	C	C	T	rs534910354		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:73997996C>T	ENST00000425876.2	+	2	246	c.158C>T	c.(157-159)tCg>tTg	p.S53L	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Missense_Mutation_p.S53L			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	53	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.S53L(1)		central_nervous_system(1)	1						AGGGAGATCTCGCTGCTCAAG	0.597																																					p.S53L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C158T	17						.						86.0	72.0	77.0					17																	73997996		2203	4300	6503	71509591	SO:0001583	missense	1018	exon3			X66357	CCDS11736.1	17q25.1	2012-09-20			ENSG00000250506	ENSG00000250506		"""Cyclin-dependent kinases"""	1772	protein-coding gene	gene with protein product		123828				1639063	Standard	NM_001258		Approved		uc010dgt.3	Q00526	OTTHUMG00000154861	ENST00000425876.2:c.158C>T	17.37:g.73997996C>T	ENSP00000410561:p.Ser53Leu		71509591	NM_001258		Missense_Mutation	SNP	ENST00000425876.2	37	CCDS11736.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794379	0.90453	.	.	ENSG00000250506	ENST00000448471;ENST00000425876	T;T	0.66460	-0.21;-0.21	4.76	3.78	0.43462	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	0.51477	D	0.000084	T	0.65585	0.2705	N	0.11870	0.19	0.50632	D	0.999882	D	0.89917	1.0	D	0.79784	0.993	T	0.70930	-0.4738	10	0.87932	D	0	-12.7132	11.7822	0.52021	0.0:0.9137:0.0:0.0863	.	53	Q00526	CDK3_HUMAN	L	53	ENSP00000400088:S53L;ENSP00000410561:S53L	ENSP00000410561:S53L	S	+	2	0	CDK3	71509591	1.000000	0.71417	0.965000	0.40720	0.978000	0.69477	4.795000	0.62489	2.355000	0.79922	0.561000	0.74099	TCG		0.597	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337389.2	NM_001258	
SEC14L1	6397	broad.mit.edu	37	17	75186930	75186930	+	Missense_Mutation	SNP	G	G	A	rs1049416		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:75186930G>A	ENST00000413679.2	+	4	412	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	SEC14L1_ENST00000591437.1_Missense_Mutation_p.V3M|SEC14L1_ENST00000430767.4_Missense_Mutation_p.V37M|SEC14L1_ENST00000431431.2_Missense_Mutation_p.V3M|SEC14L1_ENST00000392476.2_Missense_Mutation_p.V37M|SEC14L1_ENST00000585618.1_Missense_Mutation_p.V37M|SEC14L1_ENST00000443798.4_Missense_Mutation_p.V37M|SEC14L1_ENST00000436233.4_Missense_Mutation_p.V37M	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	37	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.		V -> M (in dbSNP:rs1049416).		transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.V37M(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TCCGATGTTCGTGGGCAGTGA	0.453																																					p.V37M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G109A	17						.	G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	109.0	98.0	102.0		109,109,109,7,109,109,109	5.1	1.0	17	dbSNP_86	102	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense,missense,missense	SEC14L1	NM_001039573.2,NM_001143998.1,NM_001143999.1,NM_001144001.1,NM_001204408.1,NM_001204410.1,NM_003003.3	21,21,21,21,21,21,21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	37/720,37/716,37/716,3/682,37/720,37/716,37/716	75186930	2,13004	2203	4300	6503	72698525	SO:0001583	missense	6397	exon4			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.109G>A	17.37:g.75186930G>A	ENSP00000394716:p.Val37Met		72698525	NM_001039573	A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709459	0.89018	0.0	2.33E-4	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01	5.07	5.07	0.68467	PRELI/MSF1 (2);	0.000000	0.85682	D	0.000000	T	0.44456	0.1294	M	0.68952	2.095	0.80722	D	1	D;D	0.67145	0.995;0.996	P;D	0.63877	0.868;0.919	T	0.40496	-0.9560	10	0.72032	D	0.01	-40.0395	17.8013	0.88587	0.0:0.0:1.0:0.0	rs1049416;rs3189582;rs52810511	37;37	Q92503-2;Q92503	.;S14L1_HUMAN	M	37;37;37;37;37;3	ENSP00000376268:V37M;ENSP00000406030:V37M;ENSP00000390392:V37M;ENSP00000408169:V37M;ENSP00000394716:V37M;ENSP00000389838:V3M	ENSP00000376268:V37M	V	+	1	0	SEC14L1	72698525	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.733000	0.98818	2.516000	0.84829	0.591000	0.81541	GTG		0.453	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003	
SEPT9	10801	broad.mit.edu	37	17	75484812	75484812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:75484812G>A	ENST00000427177.1	+	7	1254	c.1128G>A	c.(1126-1128)tgG>tgA	p.W376*	SEPT9_ENST00000423034.2_Nonsense_Mutation_p.W369*|SEPT9_ENST00000590294.1_Nonsense_Mutation_p.W358*|SEPT9_ENST00000329047.8_Nonsense_Mutation_p.W358*|SEPT9_ENST00000449803.2_Nonsense_Mutation_p.W212*|SEPT9_ENST00000427674.2_Nonsense_Mutation_p.W212*|SEPT9_ENST00000431235.2_Nonsense_Mutation_p.W212*|SEPT9_ENST00000588690.1_Nonsense_Mutation_p.W212*|SEPT9_ENST00000592951.1_Nonsense_Mutation_p.W125*|SEPT9_ENST00000585930.1_Nonsense_Mutation_p.W152*|SEPT9_ENST00000541152.2_Nonsense_Mutation_p.W125*|SEPT9_ENST00000427180.1_Nonsense_Mutation_p.W264*|SEPT9_ENST00000591088.1_Nonsense_Mutation_p.W125*|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000591198.1_Nonsense_Mutation_p.W357*	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	376	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.W264*(1)|p.W358*(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CACGCAGCTGGCAGCCCATCA	0.592																																					p.W264X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G792A	17						.						88.0	101.0	97.0					17																	75484812		2202	4300	6502	72996407	SO:0001587	stop_gained	10801	exon5			AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.1128G>A	17.37:g.75484812G>A	ENSP00000391249:p.Trp376*		72996407	NM_001113495	A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Nonsense_Mutation	SNP	ENST00000427177.1	37	CCDS45790.1	.	.	.	.	.	.	.	.	.	.	g	39	7.663246	0.98419	.	.	ENSG00000184640	ENST00000427177;ENST00000397613;ENST00000449803;ENST00000329047;ENST00000423034;ENST00000427674;ENST00000541152;ENST00000431235;ENST00000427180	.	.	.	4.84	3.87	0.44632	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1636	0.59558	0.0773:0.0:0.9227:0.0	.	.	.	.	X	376;125;212;358;369;212;152;125;264	.	ENSP00000329161:W358X	W	+	3	0	SEPT9	72996407	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.525000	0.98039	1.162000	0.42619	0.633000	0.83428	TGG		0.592	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640	
TNRC6C	57690	broad.mit.edu	37	17	76071242	76071242	+	Silent	SNP	C	C	T	rs370409606		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:76071242C>T	ENST00000588061.1	+	10	3670	c.2943C>T	c.(2941-2943)gaC>gaT	p.D981D	TNRC6C_ENST00000335749.4_Silent_p.D978D|TNRC6C_ENST00000588847.1_Silent_p.D978D|TNRC6C_ENST00000301624.4_Silent_p.D981D|TNRC6C_ENST00000541771.1_Silent_p.D981D|TNRC6C_ENST00000544502.1_Silent_p.D978D			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	981					embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.D981D(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGAAGGTGGACGTGGACAAGC	0.562																																					p.D981D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2943T	17						.	C	,	0,4120		0,0,2060	51.0	53.0	53.0		2934,2943	3.8	1.0	17		53	1,8397		0,1,4198	no	coding-synonymous,coding-synonymous	TNRC6C	NM_001142640.1,NM_018996.3	,	0,1,6258	TT,TC,CC		0.0119,0.0,0.0080	,	978/1727,981/1691	76071242	1,12517	2060	4199	6259	73582837	SO:0001819	synonymous_variant	57690	exon9			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.2943C>T	17.37:g.76071242C>T			73582837	NM_018996	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	37	CCDS45798.1																																																																																				0.562	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996	
TK1	7083	broad.mit.edu	37	17	76170848	76170848	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:76170848C>T	ENST00000301634.7	-	7	935	c.697G>A	c.(697-699)Gcc>Acc	p.A233T	TK1_ENST00000588734.1_Missense_Mutation_p.A266T|TK1_ENST00000405273.1_Missense_Mutation_p.A233T|TK1_ENST00000590862.1_Missense_Mutation_p.A179T	NM_003258.4	NP_003249.3	P04183	KITH_HUMAN	thymidine kinase 1, soluble	233					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|digestive tract development (GO:0048565)|DNA replication (GO:0006260)|fetal process involved in parturition (GO:0060138)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to copper ion (GO:0046688)|response to cortisol (GO:0051414)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|skeletal muscle cell proliferation (GO:0014856)|small molecule metabolic process (GO:0044281)|thymidine metabolic process (GO:0046104)	cytosol (GO:0005829)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|nucleoside kinase activity (GO:0019206)|thymidine kinase activity (GO:0004797)|zinc ion binding (GO:0008270)	p.A233T(2)		endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		Trifluridine(DB00432)|Zidovudine(DB00495)	CCTCAGTTGGCAGGGCTGCAT	0.652																																					p.A233T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G697A	17						.						30.0	28.0	29.0					17																	76170848		2202	4300	6502	73682443	SO:0001583	missense	7083	exon7				CCDS11754.1	17q23.2-q25.3	2012-10-02			ENSG00000167900	ENSG00000167900	2.7.1.21		11830	protein-coding gene	gene with protein product		188300					Standard	NM_003258		Approved		uc002juw.2	P04183	OTTHUMG00000150674	ENST00000301634.7:c.697G>A	17.37:g.76170848C>T	ENSP00000301634:p.Ala233Thr		73682443	NM_003258	B2RC58|Q969V0|Q9UMG9	Missense_Mutation	SNP	ENST00000301634.7	37	CCDS11754.1	.	.	.	.	.	.	.	.	.	.	C	4.251	0.045498	0.08196	.	.	ENSG00000167900	ENST00000301634;ENST00000405273	.	.	.	5.17	-3.83	0.04269	.	0.775276	0.11410	N	0.566866	T	0.17365	0.0417	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.16129	-1.0413	9	0.41790	T	0.15	-34.4102	2.2518	0.04045	0.1046:0.2976:0.3085:0.2893	.	233;233	B5BU32;P04183	.;KITH_HUMAN	T	233	.	ENSP00000301634:A233T	A	-	1	0	TK1	73682443	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	-0.453000	0.06778	-0.448000	0.07128	-0.812000	0.03155	GCC		0.652	TK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319577.1	NM_003258	
DNAH2	146754	broad.mit.edu	37	17	7689608	7689608	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:7689608C>T	ENST00000572933.1	+	40	7756	c.6296C>T	c.(6295-6297)gCc>gTc	p.A2099V	DNAH2_ENST00000389173.2_Missense_Mutation_p.A2099V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2099	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A2099V(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATTCTACAGGCCTCCCTGTCC	0.562																																					p.A2099V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6296T	17						.						58.0	55.0	56.0					17																	7689608		2203	4300	6503	7630333	SO:0001583	missense	146754	exon39			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6296C>T	17.37:g.7689608C>T	ENSP00000458355:p.Ala2099Val		7630333	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	8.803	0.933432	0.18206	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.57107	0.42	5.44	4.45	0.53987	ATPase, dynein-related, AAA domain (1);	0.578505	0.13911	N	0.354265	T	0.51618	0.1685	M	0.79343	2.45	0.09310	N	1	B	0.26318	0.146	B	0.32289	0.143	T	0.52902	-0.8513	10	0.44086	T	0.13	.	3.1829	0.06590	0.1756:0.5548:0.1705:0.0991	.	2099	Q9P225	DYH2_HUMAN	V	2099	ENSP00000373825:A2099V	ENSP00000353818:A2099V	A	+	2	0	DNAH2	7630333	0.002000	0.14202	0.180000	0.23079	0.321000	0.28281	0.719000	0.25881	1.444000	0.47605	0.655000	0.94253	GCC		0.562	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
LGALS3BP	3959	broad.mit.edu	37	17	76968408	76968408	+	Silent	SNP	A	A	G	rs536183507		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:76968408A>G	ENST00000262776.3	-	6	1316	c.1008T>C	c.(1006-1008)caT>caC	p.H336H	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	336	BACK.				cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)	p.H336H(1)		NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CCACCTCCTCATGGGAGGCAC	0.642													A|||	1	0.000199681	0.0008	0.0	5008	,	,		17950	0.0		0.0	False		,,,				2504	0.0				p.H336H	GBM(89;1105 1755 18102 21513)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1008C	17						.						52.0	54.0	54.0					17																	76968408		2203	4300	6503	74480003	SO:0001819	synonymous_variant	3959	exon6			L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.1008T>C	17.37:g.76968408A>G			74480003	NM_005567	Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Silent	SNP	ENST00000262776.3	37	CCDS11759.1																																																																																				0.642	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567	
LINC00482	284185	broad.mit.edu	37	17	79278447	79278447	+	lincRNA	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:79278447C>T	ENST00000332012.5	-	0	1146					NR_038080.1		Q8N8I6	CQ055_HUMAN	long intergenic non-protein coding RNA 482									p.V240I(1)									CAGGGAGAAACGTGGCCTTGT	0.627																																					p.V240I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G718A	17						.						53.0	60.0	58.0					17																	79278447		2130	4227	6357	76893042			284185	exon4			AK096740		17q25.3	2012-10-12	2011-09-01	2011-09-01	ENSG00000185168	ENSG00000185168		"""Long non-coding RNAs"""	26816	non-coding RNA	RNA, long non-coding			"""chromosome 17 open reading frame 55"""	C17orf55			Standard	NR_038080		Approved	FLJ39421	uc002kac.1	Q8N8I6			17.37:g.79278447C>T			76893042	NM_178519		Missense_Mutation	SNP	ENST00000332012.5	37		.	.	.	.	.	.	.	.	.	.	c	2.227	-0.377064	0.05000	.	.	ENSG00000185168	ENST00000332012	.	.	.	1.07	-0.0498	0.13833	.	.	.	.	.	T	0.25901	0.0631	.	.	.	.	.	.	B	0.28998	0.23	B	0.15052	0.012	T	0.21042	-1.0257	6	0.87932	D	0	.	4.9888	0.14203	0.0:0.6129:0.3871:0.0	.	240	Q8N8I6	CQ055_HUMAN	I	240	.	ENSP00000327588:V240I	V	-	1	0	C17orf55	76893042	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.678000	0.05209	0.051000	0.15978	-0.594000	0.04110	GTT		0.627	LINC00482-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000439605.1	NM_178519	
CCDC57	284001	broad.mit.edu	37	17	80159738	80159738	+	Missense_Mutation	SNP	C	C	T	rs370460701		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:80159738C>T	ENST00000389641.4	-	2	119	c.83G>A	c.(82-84)cGc>cAc	p.R28H	CCDC57_ENST00000392343.3_Missense_Mutation_p.R28H|CCDC57_ENST00000392347.1_Missense_Mutation_p.R28H			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	28								p.R28H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CAGCTGGGTGCGGTGTGCCTG	0.647																																					p.R28H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G83A	17						.	C	HIS/ARG	0,4252		0,0,2126	23.0	27.0	25.0		83	1.7	0.0	17		25	1,8483		0,1,4241	no	missense	CCDC57	NM_198082.2	29	0,1,6367	TT,TC,CC		0.0118,0.0,0.0079	benign	28/916	80159738	1,12735	2126	4242	6368	77753027	SO:0001583	missense	284001	exon2			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.83G>A	17.37:g.80159738C>T	ENSP00000374292:p.Arg28His		77753027	NM_198082	A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37		.	.	.	.	.	.	.	.	.	.	C	6.606	0.480139	0.12581	0.0	1.18E-4	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.32988	2.64;2.64;1.43	5.18	1.7	0.24286	.	0.492360	0.20286	N	0.095352	T	0.26085	0.0636	L	0.56769	1.78	0.09310	N	1	B;B	0.22480	0.07;0.034	B;B	0.17722	0.016;0.019	T	0.17410	-1.0370	10	0.39692	T	0.17	-6.3173	7.2531	0.26160	0.0:0.5812:0.0:0.4188	.	28;28	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	H	28	ENSP00000374292:R28H;ENSP00000376158:R28H;ENSP00000376154:R28H	ENSP00000374292:R28H	R	-	2	0	CCDC57	77753027	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.095000	0.15127	0.150000	0.19136	-0.143000	0.13931	CGC		0.647	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082	
CD7	924	broad.mit.edu	37	17	80273243	80273243	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:80273243G>A	ENST00000312648.3	-	4	783	c.677C>T	c.(676-678)tCg>tTg	p.S226L	CD7_ENST00000584284.1_3'UTR|CD7_ENST00000583376.1_Missense_Mutation_p.S126L	NM_006137.6	NP_006128.1	P09564	CD7_HUMAN	CD7 molecule	226					homeostasis of number of cells within a tissue (GO:0048873)|immune response (GO:0006955)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.S226L(1)		endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			GCGGCTGTGCGACATGTCCTC	0.617																																					p.S226L	Pancreas(45;804 1068 19702 28207 28798)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C677T	17						.						103.0	80.0	88.0					17																	80273243		2203	4300	6503	77866532	SO:0001583	missense	924	exon4			X06180	CCDS11807.1	17q25.2-q25.3	2013-01-11	2006-03-28			ENSG00000173762		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1695	protein-coding gene	gene with protein product	"""p41 protein"", ""T-cell antigen CD7"", ""T-cell leukemia antigen"""	186820	"""CD7 antigen (p41)"""			1695199, 3501369	Standard	NM_006137		Approved	GP40, LEU-9, TP41, Tp40	uc002kel.1	P09564		ENST00000312648.3:c.677C>T	17.37:g.80273243G>A	ENSP00000312027:p.Ser226Leu		77866532	NM_006137		Missense_Mutation	SNP	ENST00000312648.3	37	CCDS11807.1	.	.	.	.	.	.	.	.	.	.	G	5.389	0.256960	0.10239	.	.	ENSG00000173762	ENST00000312648	T	0.52754	0.65	2.03	2.03	0.26663	.	0.000000	0.40554	U	0.001078	T	0.52468	0.1736	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.53982	-0.8361	10	0.87932	D	0	-26.334	7.5749	0.27931	0.0:0.0:1.0:0.0	.	226	P09564	CD7_HUMAN	L	226	ENSP00000312027:S226L	ENSP00000312027:S226L	S	-	2	0	CD7	77866532	1.000000	0.71417	0.920000	0.36463	0.091000	0.18340	2.035000	0.41155	1.433000	0.47394	0.313000	0.20887	TCG		0.617	CD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442826.1	NM_006137	
OGFOD3	79701	broad.mit.edu	37	17	80373367	80373367	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:80373367C>T	ENST00000313056.5	-	2	362	c.211G>A	c.(211-213)Gca>Aca	p.A71T	HEXDC_ENST00000337014.6_5'Flank|Y_RNA_ENST00000364369.1_RNA|OGFOD3_ENST00000329197.5_Missense_Mutation_p.A71T	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	71						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.A71T(1)									AGGACCTCTGCGACCCCGTCG	0.672																																					p.A71T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G211A	17						.						69.0	70.0	70.0					17																	80373367		2203	4299	6502	77966656	SO:0001583	missense	79701	exon2			BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 101"""	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.211G>A	17.37:g.80373367C>T	ENSP00000320116:p.Ala71Thr		77966656	NM_175902	C9JDC8|Q8IZ37|Q9H6J2	Missense_Mutation	SNP	ENST00000313056.5	37	CCDS11811.1	.	.	.	.	.	.	.	.	.	.	C	1.298	-0.605586	0.03717	.	.	ENSG00000181396	ENST00000313056;ENST00000329197	T;T	0.30714	1.97;1.52	5.0	-1.19	0.09585	.	0.276715	0.33144	N	0.005225	T	0.07908	0.0198	N	0.01352	-0.895	0.09310	N	1	B;B	0.15930	0.001;0.015	B;B	0.10450	0.001;0.005	T	0.35748	-0.9776	10	0.02654	T	1	-3.8542	10.5256	0.44945	0.0:0.4924:0.0:0.5076	.	71;71	Q6PK18;Q6PK18-2	CQ101_HUMAN;.	T	71	ENSP00000320116:A71T;ENSP00000330075:A71T	ENSP00000320116:A71T	A	-	1	0	C17orf101	77966656	0.071000	0.21146	0.000000	0.03702	0.000000	0.00434	0.282000	0.18829	-0.852000	0.04141	-1.814000	0.00607	GCA		0.672	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1	NM_175902	
GEMIN4	50628	broad.mit.edu	37	17	650298	650298	+	Frame_Shift_Del	DEL	C	C	-	rs191715038	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:650298delC	ENST00000319004.5	-	2	1103	c.985delG	c.(985-987)gagfs	p.E330fs	GEMIN4_ENST00000437269.1_3'UTR|GEMIN4_ENST00000576778.1_Frame_Shift_Del_p.E319fs	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	330					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.E329fs*24(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGCAACTCCTCCCCCCACTCC	0.627																																					p.E329fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.985delG	17						.						52.0	59.0	56.0					17																	650298		2105	4223	6328	597048	SO:0001589	frameshift_variant	50628	exon2			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.985delG	17.37:g.650298delC	ENSP00000321706:p.Glu330fs		597048	NM_015721	Q9NZS7|Q9UG32|Q9Y4Q2	Frame_Shift_Del	DEL	ENST00000319004.5	37	CCDS45559.1																																																																																				0.627	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721	
ALOX12B	242	broad.mit.edu	37	17	7978913	7978913	+	Splice_Site	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:7978913C>A	ENST00000319144.4	-	12	1914	c.1654G>T	c.(1654-1656)Ggc>Tgc	p.G552C	ALOX12B_ENST00000577351.1_Intron	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	552	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.G552C(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AGGCCCATACCTGAGCTCTCC	0.592										Multiple Myeloma(8;0.094)																											p.G552C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1654T	17						.						96.0	98.0	97.0					17																	7978913		2203	4300	6503	7919638	SO:0001630	splice_region_variant	242	exon12			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1654+1G>T	17.37:g.7978913C>A			7919638	NM_001139		Missense_Mutation	SNP	ENST00000319144.4	37	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985807	0.74589	.	.	ENSG00000179477	ENST00000319144	D	0.91011	-2.77	4.62	4.62	0.57501	Lipoxygenase, C-terminal (3);	0.056061	0.64402	D	0.000001	D	0.96485	0.8853	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97724	1.0198	9	.	.	.	-22.502	16.2286	0.82318	0.0:1.0:0.0:0.0	.	552	O75342	LX12B_HUMAN	C	552	ENSP00000315167:G552C	.	G	-	1	0	ALOX12B	7919638	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	4.695000	0.61767	2.125000	0.65367	0.462000	0.41574	GGC		0.592	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3		Missense_Mutation
MYH10	4628	broad.mit.edu	37	17	8396259	8396259	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:8396259G>A	ENST00000269243.4	-	31	4338	c.4200C>T	c.(4198-4200)gaC>gaT	p.D1400D	MYH10_ENST00000396239.1_Silent_p.D1421D|MYH10_ENST00000379980.4_Silent_p.D1416D|MYH10_ENST00000360416.3_Silent_p.D1431D	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1400					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.D1400D(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGGCCTCCGCGTCCTTCAGAA	0.542																																					p.D1400D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4200T	17						.						82.0	81.0	81.0					17																	8396259		2203	4300	6503	8336984	SO:0001819	synonymous_variant	4628	exon31			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4200C>T	17.37:g.8396259G>A			8336984	NM_005964	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	37	CCDS11144.1																																																																																				0.542	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2		
MYH3	4621	broad.mit.edu	37	17	10555877	10555877	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:10555877delG	ENST00000583535.1	-	4	295	c.208delC	c.(208-210)ctgfs	p.L70fs	MYH3_ENST00000226209.7_Frame_Shift_Del_p.L70fs	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	70					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.L70fs*11(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTGACCACCAGGGTCTAAAAA	0.463																																					p.L70fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.208delC	17						.																																			10496602	SO:0001589	frameshift_variant	4621	exon3				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.208delC	17.37:g.10555877delG	ENSP00000464317:p.Leu70fs		10496602	NM_002470	Q15492	Frame_Shift_Del	DEL	ENST00000583535.1	37	CCDS11157.1																																																																																				0.463	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470	
RHOT1	55288	broad.mit.edu	37	17	30529818	30529818	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:30529818delA	ENST00000333942.6	+	15	1470	c.1231delA	c.(1231-1233)aaafs	p.K412fs	RHOT1_ENST00000583994.1_Frame_Shift_Del_p.K285fs|RHOT1_ENST00000394692.2_Frame_Shift_Del_p.K412fs|RHOT1_ENST00000354266.3_Frame_Shift_Del_p.K391fs|RHOT1_ENST00000581094.1_Frame_Shift_Del_p.K412fs|RHOT1_ENST00000545287.2_Frame_Shift_Del_p.K412fs|RHOT1_ENST00000358365.3_Frame_Shift_Del_p.K412fs	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	412	Miro 2.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.K412fs*12(1)		NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				AGACCTGCAGAAAAAACAAAC	0.333																																					p.K411fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1231delA	17						.						80.0	85.0	83.0					17																	30529818		2203	4300	6503	27553931	SO:0001589	frameshift_variant	55288	exon15			AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.1231delA	17.37:g.30529818delA	ENSP00000334724:p.Lys412fs		27553931	NM_001033566	A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Frame_Shift_Del	DEL	ENST00000333942.6	37	CCDS32612.1																																																																																				0.333	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307	
AXIN2	8313	broad.mit.edu	37	17	63532517	63532517	+	Frame_Shift_Del	DEL	G	G	-	rs35415678	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:63532517delG	ENST00000375702.5	-	6	1975	c.1867delC	c.(1867-1869)ctgfs	p.L623fs	AXIN2_ENST00000307078.5_Frame_Shift_Del_p.L688fs			Q9Y2T1	AXIN2_HUMAN	axin 2	672				Missing (in Ref. 2; AAF22799). {ECO:0000305}.	bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.L688fs*1(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GGTGGGGTCAGGGGAGGCATC	0.687									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																												p.L688X												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2062delC	17	GRCh37	CM067349	AXIN2	M	rs35415678	.						24.0	25.0	25.0					17																	63532517		2202	4300	6502	60962979	SO:0001589	frameshift_variant	8313	exon8	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1867delC	17.37:g.63532517delG	ENSP00000364854:p.Leu623fs		60962979	NM_004655	Q3MJ88|Q9H3M6|Q9UH84	Frame_Shift_Del	DEL	ENST00000375702.5	37																																																																																					0.687	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655	
KIAA0195	9772	broad.mit.edu	37	17	73491063	73491063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:73491063delC	ENST00000314256.7	+	20	3070	c.2676delC	c.(2674-2676)atcfs	p.I892fs	KIAA0195_ENST00000579208.1_Frame_Shift_Del_p.I543fs|KIAA0195_ENST00000375248.5_Frame_Shift_Del_p.I902fs|AC100787.1_ENST00000579379.1_RNA	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	892						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.S895fs*13(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)			GCTCCGAGATCCCCCCCTCCA	0.612																																					p.I892fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2676delC	17						.						56.0	61.0	59.0					17																	73491063		2203	4300	6503	71002658	SO:0001589	frameshift_variant	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.2676delC	17.37:g.73491063delC	ENSP00000313885:p.Ile892fs		71002658	NM_014738	O75536|Q86XF1	Frame_Shift_Del	DEL	ENST00000314256.7	37	CCDS32732.1																																																																																				0.612	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738	
MGAT5B	146664	broad.mit.edu	37	17	74902245	74902245	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:74902245delC	ENST00000569840.2	+	8	1575	c.1001delC	c.(1000-1002)acafs	p.T334fs	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Frame_Shift_Del_p.T345fs|MGAT5B_ENST00000301618.4_Frame_Shift_Del_p.T334fs	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	334					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)	p.T334fs*4(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGCGGGTCACAGTCTCCCTG	0.642																																					p.T334fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1001delC	17						.						56.0	49.0	52.0					17																	74902245		2203	4300	6503	72413840	SO:0001589	frameshift_variant	146664	exon8			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1001delC	17.37:g.74902245delC	ENSP00000456037:p.Thr334fs		72413840	NM_001199172	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Frame_Shift_Del	DEL	ENST00000569840.2	37	CCDS59299.1																																																																																				0.642	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677	
WDR45B	56270	broad.mit.edu	37	17	80585164	80585164	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr17:80585164A>G	ENST00000392325.4	-	4	442	c.248T>C	c.(247-249)aTg>aCg	p.M83T	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	83								p.M83T(1)									ATCCCAGATCATTACTGAAAT	0.468																																					p.M83T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T248C	17						.						100.0	98.0	98.0					17																	80585164		2203	4300	6503	78178453	SO:0001583	missense	56270	exon4			AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"""WD repeat domain containing"""	25072	protein-coding gene	gene with protein product		609226	"""WDR45-like"""	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.248T>C	17.37:g.80585164A>G	ENSP00000376139:p.Met83Thr		78178453	NM_019613	O95328|Q2MCP6|Q6IBN2	Missense_Mutation	SNP	ENST00000392325.4	37	CCDS11815.2	.	.	.	.	.	.	.	.	.	.	A	14.17	2.456667	0.43634	.	.	ENSG00000141580	ENST00000392325;ENST00000539012	T	0.61980	0.06	4.46	4.46	0.54185	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58906	0.2155	M	0.64997	1.995	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.57370	-0.7823	10	0.34782	T	0.22	-47.5108	14.0541	0.64756	1.0:0.0:0.0:0.0	.	83	Q5MNZ6	WIPI3_HUMAN	T	83;55	ENSP00000376139:M83T	ENSP00000376139:M83T	M	-	2	0	WDR45L	78178453	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	8.662000	0.91130	1.783000	0.52377	0.383000	0.25322	ATG		0.468	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316536.1	NM_019613	
TUBB6	84617	broad.mit.edu	37	18	12310964	12310964	+	Silent	SNP	C	C	T	rs34553814	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr18:12310964C>T	ENST00000317702.5	+	3	423	c.189C>T	c.(187-189)gcC>gcT	p.A63A	TUBB6_ENST00000591909.1_Silent_p.A63A|TUBB6_ENST00000586653.1_Silent_p.A63A|TUBB6_ENST00000590967.1_Silent_p.A63A|TUBB6_ENST00000591208.1_Silent_p.A63A|TUBB6_ENST00000592683.1_Silent_p.A63A			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	63					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.A63A(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		TGCCCAGGGCCGCCCTGGTGG	0.527													C|||	10	0.00199681	0.0076	0.0	5008	,	,		14170	0.0		0.0	False		,,,				2504	0.0				p.A63A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C189T	18						.	C		29,4375	35.2+/-66.4	0,29,2173	75.0	70.0	71.0		189	-6.7	0.3	18	dbSNP_126	71	0,8600		0,0,4300	no	coding-synonymous	TUBB6	NM_032525.1		0,29,6473	TT,TC,CC		0.0,0.6585,0.223		63/447	12310964	29,12975	2202	4300	6502	12300964	SO:0001819	synonymous_variant	84617	exon3			AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.189C>T	18.37:g.12310964C>T			12300964	NM_032525	B3KM76|Q9HA42	Silent	SNP	ENST00000317702.5	37	CCDS11858.1																																																																																				0.527	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525	
TUBB6	84617	broad.mit.edu	37	18	12311032	12311032	+	Missense_Mutation	SNP	G	G	A	rs143181795	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr18:12311032G>A	ENST00000317702.5	+	3	491	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	TUBB6_ENST00000591909.1_Missense_Mutation_p.R86Q|TUBB6_ENST00000586653.1_Missense_Mutation_p.R86Q|TUBB6_ENST00000590967.1_Missense_Mutation_p.R86Q|TUBB6_ENST00000591208.1_Missense_Mutation_p.R86Q|TUBB6_ENST00000592683.1_Missense_Mutation_p.R86Q			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	86					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R86Q(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CAGCTTTTCCGGCCTGACAAC	0.458																																					p.R86Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G257A	18						.	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	96.0	87.0	90.0		257	3.9	1.0	18	dbSNP_134	90	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TUBB6	NM_032525.1	43	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	probably-damaging	86/447	12311032	5,13001	2203	4300	6503	12301032	SO:0001583	missense	84617	exon3			AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.257G>A	18.37:g.12311032G>A	ENSP00000318697:p.Arg86Gln		12301032	NM_032525	B3KM76|Q9HA42	Missense_Mutation	SNP	ENST00000317702.5	37	CCDS11858.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790654	0.50102	2.27E-4	4.65E-4	ENSG00000176014	ENST00000317702;ENST00000417736;ENST00000445717	T	0.68765	-0.35	4.82	3.92	0.45320	Tubulin/FtsZ, GTPase domain (4);	0.058401	0.64402	D	0.000003	T	0.65954	0.2741	M	0.85777	2.775	0.51012	D	0.999906	P	0.36660	0.564	B	0.20577	0.03	T	0.73842	-0.3855	10	0.87932	D	0	.	14.9432	0.71009	0.0:0.144:0.856:0.0	.	86	Q9BUF5	TBB6_HUMAN	Q	86;14;86	ENSP00000318697:R86Q	ENSP00000318697:R86Q	R	+	2	0	TUBB6	12301032	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.361000	0.79497	1.348000	0.45733	0.655000	0.94253	CGG		0.458	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525	
MC2R	4158	broad.mit.edu	37	18	13885108	13885108	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr18:13885108C>T	ENST00000327606.3	-	2	590	c.410G>A	c.(409-411)cGg>cAg	p.R137Q		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	137			R -> P (found in a glucocorticoid deficiency patient carrying also mutation I-74). {ECO:0000269|PubMed:20108423}.|R -> W (in GCCD1; partial loss of ACTIVITY). {ECO:0000269|PubMed:10971458, ECO:0000269|PubMed:12213892}.		G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.R137Q(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GCTGTGGTACCGCAGTGCGTG	0.572																																					p.R137Q	Colon(141;1584 1782 35999 48227 48692)											.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.G410A	18						.						116.0	87.0	96.0					18																	13885108		2203	4300	6503	13875108	SO:0001583	missense	4158	exon2				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.410G>A	18.37:g.13885108C>T	ENSP00000333821:p.Arg137Gln		13875108	NM_000529	A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069126	0.36470	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.40756	1.02	5.28	2.72	0.32119	GPCR, rhodopsin-like superfamily (1);	0.195180	0.45867	N	0.000323	T	0.27663	0.0680	L	0.31664	0.95	0.31073	N	0.712753	B	0.10296	0.003	B	0.16722	0.016	T	0.18650	-1.0330	10	0.27785	T	0.31	.	7.9583	0.30055	0.0:0.3005:0.0:0.6995	.	137	Q01718	ACTHR_HUMAN	Q	137	ENSP00000333821:R137Q	ENSP00000333821:R137Q	R	-	2	0	MC2R	13875108	1.000000	0.71417	0.976000	0.42696	0.828000	0.46876	0.967000	0.29344	0.317000	0.23160	-0.290000	0.09829	CGG		0.572	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2		
ROCK1	6093	broad.mit.edu	37	18	18564451	18564451	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr18:18564451G>A	ENST00000399799.2	-	20	3290	c.2350C>T	c.(2350-2352)Ctg>Ttg	p.L784L		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	784	Glu-rich.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L784L(2)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TGTAACAACAGCCGCTTATTT	0.318																																					p.L784L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2350T	18						.						81.0	84.0	83.0					18																	18564451		2202	4299	6501	16818449	SO:0001819	synonymous_variant	6093	exon20				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.2350C>T	18.37:g.18564451G>A			16818449	NM_005406	B0YJ91|Q2KHM4|Q59GZ4	Silent	SNP	ENST00000399799.2	37	CCDS11870.2																																																																																				0.318	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406	
CABLES1	91768	broad.mit.edu	37	18	20774432	20774432	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr18:20774432C>G	ENST00000256925.7	+	3	938	c.938C>G	c.(937-939)tCa>tGa	p.S313*	CABLES1_ENST00000400473.2_5'UTR|CABLES1_ENST00000420687.2_Nonsense_Mutation_p.S48*|CABLES1_ENST00000585061.1_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	313	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.S313*(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTCTCAGGTTCACCCAGACCA	0.438																																					p.S48X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C143G	18						.						84.0	77.0	79.0					18																	20774432		1888	4120	6008	19028430	SO:0001587	stop_gained	91768	exon3			BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.938C>G	18.37:g.20774432C>G	ENSP00000256925:p.Ser313*		19028430	NM_138375	B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Nonsense_Mutation	SNP	ENST00000256925.7	37	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159023	0.94686	.	.	ENSG00000134508	ENST00000256925;ENST00000420687	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.4617	19.9983	0.97395	0.0:1.0:0.0:0.0	.	.	.	.	X	313;48	.	ENSP00000256925:S313X	S	+	2	0	CABLES1	19028430	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.457000	0.80775	2.724000	0.93272	0.561000	0.74099	TCA		0.438	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375	
LAMA3	3909	broad.mit.edu	37	18	21494774	21494774	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr18:21494774G>A	ENST00000313654.9	+	58	7835	c.7594G>A	c.(7594-7596)Gat>Aat	p.D2532N	LAMA3_ENST00000399516.3_Missense_Mutation_p.D2476N|LAMA3_ENST00000269217.6_Missense_Mutation_p.D923N|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.D867N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2532	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.D2532N(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CCTTAATTTGGATCCTGAAAA	0.338																																					p.D867N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2599A	18						.						77.0	76.0	76.0					18																	21494774		2203	4300	6503	19748772	SO:0001583	missense	3909	exon20			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7594G>A	18.37:g.21494774G>A	ENSP00000324532:p.Asp2532Asn		19748772	NM_001127718	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917068	0.52546	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.63255	-0.03;-0.03;-0.03	4.87	4.87	0.63330	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.74114	0.3674	M	0.64630	1.985	0.47511	D	0.999445	D;D;P;P	0.89917	1.0;1.0;0.922;0.955	D;D;P;P	0.91635	0.999;0.999;0.565;0.741	T	0.71467	-0.4584	9	0.32370	T	0.25	.	12.6097	0.56544	0.0795:0.0:0.9205:0.0	.	867;923;2476;2532	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	N	2532;2476;923	ENSP00000324532:D2532N;ENSP00000382432:D2476N;ENSP00000269217:D923N	ENSP00000269217:D923N	D	+	1	0	LAMA3	19748772	1.000000	0.71417	1.000000	0.80357	0.390000	0.30446	4.364000	0.59479	2.513000	0.84729	0.561000	0.74099	GAT		0.338	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
DSC3	1825	broad.mit.edu	37	18	28609535	28609535	+	Silent	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr18:28609535T>C	ENST00000360428.4	-	4	494	c.414A>G	c.(412-414)gcA>gcG	p.A138A	DSC3_ENST00000434452.1_Silent_p.A138A	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	138	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.A138A(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AAGGAATAGGTGCCCATCTCC	0.408																																					p.A138A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A414G	18						.						123.0	117.0	119.0					18																	28609535		2203	4300	6503	26863533	SO:0001819	synonymous_variant	1825	exon4			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.414A>G	18.37:g.28609535T>C			26863533	NM_001941	A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	37	CCDS32810.1																																																																																				0.408	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423	
KLHL14	57565	broad.mit.edu	37	18	30321955	30321955	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr18:30321955G>A	ENST00000359358.4	-	3	1443	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D	KLHL14_ENST00000358095.4_Silent_p.D335D	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	335						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.D335D(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGGGGAGCCGGTCCGGTCCAG	0.408																																					p.D335D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1005T	18						.						87.0	82.0	84.0					18																	30321955		2203	4300	6503	28575953	SO:0001819	synonymous_variant	57565	exon3			AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1005C>T	18.37:g.30321955G>A			28575953	NM_020805	A6NNW1|B4DHA0|Q8WU41	Silent	SNP	ENST00000359358.4	37	CCDS32813.1																																																																																				0.408	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1		
SLC39A6	25800	broad.mit.edu	37	18	33694162	33694162	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr18:33694162G>A	ENST00000590986.1	-	7	2030	c.1741C>T	c.(1741-1743)Cgc>Tgc	p.R581C	SLC39A6_ENST00000440549.2_Missense_Mutation_p.R306C|SLC39A6_ENST00000269187.5_Missense_Mutation_p.R581C			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	581					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.R581C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						CGAGAgtagcgctggctgtga	0.537																																					p.R306C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C916T	18						.						146.0	148.0	147.0					18																	33694162		2178	4285	6463	31948160	SO:0001583	missense	25800	exon6			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.1741C>T	18.37:g.33694162G>A	ENSP00000465915:p.Arg581Cys		31948160	NM_001099406	B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	ENST00000590986.1	37	CCDS42428.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882037	0.72294	.	.	ENSG00000141424	ENST00000269187;ENST00000543723;ENST00000440549	T;T	0.50001	0.76;0.76	6.04	6.04	0.98038	.	0.153824	0.56097	N	0.000021	T	0.53769	0.1817	N	0.16098	0.37	0.51767	D	0.999937	D;D	0.89917	1.0;0.999	D;P	0.73380	0.98;0.83	T	0.56774	-0.7923	10	0.51188	T	0.08	-17.4153	18.0887	0.89466	0.0:0.0:1.0:0.0	.	581;306	Q13433;Q13433-2	S39A6_HUMAN;.	C	581;306;306	ENSP00000269187:R581C;ENSP00000401139:R306C	ENSP00000269187:R581C	R	-	1	0	SLC39A6	31948160	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.370000	0.66144	2.873000	0.98535	0.563000	0.77884	CGC		0.537	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1		
ELP2	55250	broad.mit.edu	37	18	33718276	33718276	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr18:33718276A>G	ENST00000358232.6	+	4	395	c.332A>G	c.(331-333)tAt>tGt	p.Y111C	ELP2_ENST00000351393.6_Missense_Mutation_p.Y111C|ELP2_ENST00000350494.6_Missense_Mutation_p.Y111C|ELP2_ENST00000442325.2_Missense_Mutation_p.Y111C|ELP2_ENST00000423854.2_Missense_Mutation_p.Y111C|ELP2_ENST00000542824.1_Missense_Mutation_p.Y111C	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	111					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)		p.Y111C(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						GGACCTGTTTATGCGGTGCAT	0.408																																					p.Y111C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A332G	18						.						122.0	111.0	114.0					18																	33718276		2203	4300	6503	31972274	SO:0001583	missense	55250	exon4			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.332A>G	18.37:g.33718276A>G	ENSP00000350967:p.Tyr111Cys		31972274	NM_018255	A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.955836	0.34471	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2;0.2	5.75	3.33	0.38152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101744	0.64402	N	0.000001	T	0.37705	0.1013	N	0.21617	0.685	0.28378	N	0.919652	B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.0;0.0;0.001	B;B;B;B;B;B	0.11329	0.006;0.006;0.003;0.002;0.002;0.003	T	0.18366	-1.0339	10	0.35671	T	0.21	-10.4151	5.4158	0.16374	0.7429:0.0:0.2571:0.0	.	111;111;111;111;111;111	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	C	111	ENSP00000350967:Y111C;ENSP00000257191:Y111C;ENSP00000414851:Y111C;ENSP00000391202:Y111C;ENSP00000316051:Y111C;ENSP00000443800:Y111C	ENSP00000316051:Y111C	Y	+	2	0	ELP2	31972274	1.000000	0.71417	0.993000	0.49108	0.880000	0.50808	2.372000	0.44257	0.957000	0.37930	0.455000	0.32223	TAT		0.408	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255	
PIK3C3	5289	broad.mit.edu	37	18	39537593	39537593	+	Missense_Mutation	SNP	A	A	C	rs148984948		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr18:39537593A>C	ENST00000262039.4	+	2	213	c.127A>C	c.(127-129)Atg>Ctg	p.M43L	PIK3C3_ENST00000586545.1_Missense_Mutation_p.M43L|PIK3C3_ENST00000398870.3_Intron|PIK3C3_ENST00000590220.1_Intron	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	43	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.M43L(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GGAAGACCCAATGTTGAAGTT	0.408										TSP Lung(28;0.18)																											p.M43L	NSCLC(37;552 1060 2683 16430 37914)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A127C	18						.						147.0	149.0	149.0					18																	39537593		2203	4300	6503	37791591	SO:0001583	missense	5289	exon2			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.127A>C	18.37:g.39537593A>C	ENSP00000262039:p.Met43Leu		37791591	NM_002647	Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.562783	0.27915	.	.	ENSG00000078142	ENST00000262039	T	0.68025	-0.3	4.44	4.44	0.53790	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.041188	0.85682	D	0.000000	T	0.47820	0.1466	N	0.16201	0.385	0.58432	D	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.39333	-0.9619	9	.	.	.	.	14.0224	0.64563	1.0:0.0:0.0:0.0	.	43	Q8NEB9	PK3C3_HUMAN	L	43	ENSP00000262039:M43L	.	M	+	1	0	PIK3C3	37791591	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	8.917000	0.92751	1.773000	0.52216	0.477000	0.44152	ATG		0.408	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647	
SETBP1	26040	broad.mit.edu	37	18	42281767	42281767	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr18:42281767G>T	ENST00000282030.5	+	2	752	c.456G>T	c.(454-456)aaG>aaT	p.K152N	SETBP1_ENST00000426838.4_Missense_Mutation_p.K152N	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	152						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K152N(1)|p.K98N(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGCCACGAAGGAGGAAGAAA	0.423									Schinzel-Giedion syndrome																												p.K152N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G456T	18						.						42.0	37.0	39.0					18																	42281767		2203	4299	6502	40535765	SO:0001583	missense	26040	exon2	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.456G>T	18.37:g.42281767G>T	ENSP00000282030:p.Lys152Asn		40535765	NM_015559	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845464	0.51164	.	.	ENSG00000152217	ENST00000426838;ENST00000282030	T	0.69561	-0.41	5.67	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.73210	0.3558	L	0.47716	1.5	0.37722	D	0.924969	P;D	0.89917	0.95;1.0	P;D	0.81914	0.82;0.995	T	0.75204	-0.3400	10	0.59425	D	0.04	.	8.5263	0.33307	0.289:0.0:0.711:0.0	.	152;152	Q9Y6X0;Q9Y6X0-2	SETBP_HUMAN;.	N	152	ENSP00000282030:K152N	ENSP00000282030:K152N	K	+	3	2	SETBP1	40535765	1.000000	0.71417	0.995000	0.50966	0.655000	0.38815	1.628000	0.37060	0.751000	0.32900	0.591000	0.81541	AAG		0.423	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110	
LAMA1	284217	broad.mit.edu	37	18	6971913	6971913	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr18:6971913G>T	ENST00000389658.3	-	48	6935	c.6842C>A	c.(6841-6843)tCc>tAc	p.S2281Y	RN7SL537P_ENST00000584392.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2281	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.S2281Y(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TAGGCCTATGGATTTTCCATT	0.428																																					p.S2281Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6842A	18						.						121.0	105.0	111.0					18																	6971913		2203	4300	6503	6961913	SO:0001583	missense	284217	exon48			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6842C>A	18.37:g.6971913G>T	ENSP00000374309:p.Ser2281Tyr		6961913	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111379	0.56398	.	.	ENSG00000101680	ENST00000389658	T	0.76839	-1.05	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, subdomain 1 (1);	0.231260	0.38217	N	0.001777	D	0.87525	0.6199	M	0.85373	2.75	0.25949	N	0.98278	D	0.62365	0.991	P	0.58331	0.837	T	0.80826	-0.1209	10	0.27082	T	0.32	.	19.7972	0.96491	0.0:0.0:1.0:0.0	.	2281	P25391	LAMA1_HUMAN	Y	2281	ENSP00000374309:S2281Y	ENSP00000374309:S2281Y	S	-	2	0	LAMA1	6961913	0.854000	0.29725	0.222000	0.23844	0.479000	0.33129	3.978000	0.56881	2.756000	0.94617	0.643000	0.83706	TCC		0.428	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
CD226	10666	broad.mit.edu	37	18	67562983	67562983	+	Silent	SNP	G	G	A	rs139259703	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr18:67562983G>A	ENST00000280200.4	-	4	949	c.681C>T	c.(679-681)agC>agT	p.S227S	CD226_ENST00000577287.1_Silent_p.S72S|CD226_ENST00000581982.1_Silent_p.S72S|CD226_ENST00000582621.1_Silent_p.S227S	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	227	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)	p.S227S(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TTTCTCCTGCGCTGGCCTGCA	0.537													G|||	20	0.00399361	0.0136	0.0014	5008	,	,		18337	0.001		0.0	False		,,,				2504	0.0				p.S227S	NSCLC(184;838 2130 8673 21498 50749)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C681T	18						.	G		35,4371	39.2+/-71.8	1,33,2169	135.0	135.0	135.0		681	-0.0	0.0	18	dbSNP_134	135	0,8600		0,0,4300	yes	coding-synonymous	CD226	NM_006566.2		1,33,6469	AA,AG,GG		0.0,0.7944,0.2691		227/337	67562983	35,12971	2203	4300	6503	65713963	SO:0001819	synonymous_variant	10666	exon4			U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.681C>T	18.37:g.67562983G>A			65713963	NM_006566	B2R818	Silent	SNP	ENST00000280200.4	37	CCDS11997.1																																																																																				0.537	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566	
LAMA1	284217	broad.mit.edu	37	18	7032076	7032076	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr18:7032076C>T	ENST00000389658.3	-	16	2356	c.2263G>A	c.(2263-2265)Ggc>Agc	p.G755S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	755	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.G755S(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATGCAAACGCCGTGAACATTA	0.478																																					p.G755S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2263A	18						.						116.0	96.0	103.0					18																	7032076		2203	4300	6503	7022076	SO:0001583	missense	284217	exon16			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2263G>A	18.37:g.7032076C>T	ENSP00000374309:p.Gly755Ser		7022076	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551962	0.86127	.	.	ENSG00000101680	ENST00000389658	T	0.70631	-0.5	5.39	5.39	0.77823	EGF-like, laminin (3);	0.071696	0.53938	D	0.000043	D	0.85080	0.5615	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84909	0.0847	10	0.39692	T	0.17	.	17.3336	0.87274	0.0:1.0:0.0:0.0	.	755	P25391	LAMA1_HUMAN	S	755	ENSP00000374309:G755S	ENSP00000374309:G755S	G	-	1	0	LAMA1	7022076	1.000000	0.71417	0.107000	0.21349	0.006000	0.05464	7.462000	0.80851	2.512000	0.84698	0.655000	0.94253	GGC		0.478	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
FBXO15	201456	broad.mit.edu	37	18	71791794	71791794	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr18:71791794G>T	ENST00000419743.2	-	7	1004	c.925C>A	c.(925-927)Ctg>Atg	p.L309M	FBXO15_ENST00000269500.5_Missense_Mutation_p.L233M	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	309						SCF ubiquitin ligase complex (GO:0019005)		p.L233M(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		ACAAAAGCCAGTTCTTCCTCC	0.358																																					p.L233M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C697A	18						.						150.0	147.0	148.0					18																	71791794		2203	4300	6503	69942774	SO:0001583	missense	201456	exon7			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.925C>A	18.37:g.71791794G>T	ENSP00000393154:p.Leu309Met		69942774	NM_152676	B3KST3	Missense_Mutation	SNP	ENST00000419743.2	37	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379695	0.24944	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.47869	0.86;0.83	5.31	1.96	0.26148	.	0.190716	0.44483	D	0.000454	T	0.27629	0.0679	L	0.37561	1.115	0.26569	N	0.973598	P;B	0.35507	0.506;0.264	B;B	0.28553	0.091;0.054	T	0.12167	-1.0558	10	0.40728	T	0.16	-10.413	3.2222	0.06720	0.2626:0.0:0.392:0.3454	.	309;233	B3KST3;Q8NCQ5	.;FBX15_HUMAN	M	233;309	ENSP00000269500:L233M;ENSP00000393154:L309M	ENSP00000269500:L233M	L	-	1	2	FBXO15	69942774	0.996000	0.38824	0.941000	0.38009	0.989000	0.77384	1.585000	0.36600	0.528000	0.28580	-0.217000	0.12591	CTG		0.358	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676	
ZNF236	7776	broad.mit.edu	37	18	74590095	74590095	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr18:74590095C>T	ENST00000253159.8	+	7	1163	c.965C>T	c.(964-966)gCt>gTt	p.A322V	ZNF236_ENST00000320610.9_Missense_Mutation_p.A324V	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	322					cellular response to glucose stimulus (GO:0071333)|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.A322V(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ACAGAGACTGCTCATGTTTTA	0.323																																					p.A322V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C965T	18						.						91.0	84.0	86.0					18																	74590095		1836	4086	5922	72719083	SO:0001583	missense	7776	exon7			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.965C>T	18.37:g.74590095C>T	ENSP00000253159:p.Ala322Val		72719083	NM_007345	B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961378	0.53400	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.11712	2.75;2.9	5.05	5.05	0.67936	.	0.359901	0.26324	N	0.025038	T	0.14141	0.0342	L	0.51422	1.61	0.18873	N	0.999988	B;B	0.27823	0.001;0.19	B;B	0.27608	0.003;0.081	T	0.10451	-1.0629	10	0.54805	T	0.06	.	17.4715	0.87647	0.0:1.0:0.0:0.0	.	322;322	Q9NWI2;Q9UL36	.;ZN236_HUMAN	V	322	ENSP00000253159:A322V;ENSP00000444524:A322V	ENSP00000253159:A322V	A	+	2	0	ZNF236	72719083	0.129000	0.22400	0.145000	0.22337	0.895000	0.52256	2.885000	0.48570	2.350000	0.79820	0.456000	0.33151	GCT		0.323	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1		
PTPRM	5797	broad.mit.edu	37	18	8113555	8113555	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr18:8113555A>G	ENST00000332175.8	+	12	2965	c.1928A>G	c.(1927-1929)tAc>tGc	p.Y643C	PTPRM_ENST00000400053.4_Missense_Mutation_p.Y581C|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000580170.1_Missense_Mutation_p.Y643C|PTPRM_ENST00000444013.1_Missense_Mutation_p.Y430C|PTPRM_ENST00000400060.4_Missense_Mutation_p.Y643C	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	643	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.Y643C(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TTAAAGTGCTACCCAGTGCCA	0.423																																					p.Y643C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1928G	18						.						112.0	106.0	108.0					18																	8113555		2203	4300	6503	8103555	SO:0001583	missense	5797	exon12			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1928A>G	18.37:g.8113555A>G	ENSP00000331418:p.Tyr643Cys		8103555	NM_002845	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.536423	0.85812	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.49139	1.12;1.1;0.94;0.79	5.84	5.84	0.93424	Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	T	0.67581	0.2908	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.80764	0.928;0.994;0.994	T	0.69877	-0.5026	10	0.62326	D	0.03	.	16.226	0.82293	1.0:0.0:0.0:0.0	.	430;643;643	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	C	643;643;581;430	ENSP00000331418:Y643C;ENSP00000382933:Y643C;ENSP00000382927:Y581C;ENSP00000387608:Y430C	ENSP00000331418:Y643C	Y	+	2	0	PTPRM	8103555	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.230000	0.72887	0.528000	0.53228	TAC		0.423	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		
PPP4R1	9989	broad.mit.edu	37	18	9550351	9550351	+	Silent	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr18:9550351A>G	ENST00000400556.3	-	17	2410	c.2337T>C	c.(2335-2337)taT>taC	p.Y779Y	PPP4R1_ENST00000400555.3_Silent_p.Y762Y	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	779					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)	p.Y762Y(1)		large_intestine(1)|skin(2)	3						GTAAATAGTCATAAACATCTC	0.323																																					p.Y779Y	Melanoma(188;1232 2082 5061 11948 35994)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2337C	18						.						133.0	128.0	130.0					18																	9550351		1830	4091	5921	9540351	SO:0001819	synonymous_variant	9989	exon17			AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.2337T>C	18.37:g.9550351A>G			9540351	NM_001042388	Q99774|Q9UNQ7	Silent	SNP	ENST00000400556.3	37	CCDS42412.1																																																																																				0.323	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134	
SALL3	27164	broad.mit.edu	37	18	76755013	76755013	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr18:76755013G>A	ENST00000537592.2	+	2	3022	c.3022G>A	c.(3022-3024)Gcg>Acg	p.A1008T	SALL3_ENST00000536229.3_Intron|SALL3_ENST00000575389.2_Intron	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1008					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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.A1008T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ATTCGTCTGCGCGCTCTGCAG	0.517																																					p.A1008T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3022A	18						.						72.0	73.0	72.0					18																	76755013		2203	4300	6503	74856001	SO:0001583	missense	27164	exon2			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3022G>A	18.37:g.76755013G>A	ENSP00000441823:p.Ala1008Thr		74856001	NM_171999	Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.284792	0.00251	.	.	ENSG00000256463	ENST00000537592	T	0.07567	3.18	5.1	-3.34	0.04943	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.527164	0.15124	N	0.279224	T	0.03136	0.0092	N	0.16478	0.41	0.58432	D	0.999998	B	0.10296	0.003	B	0.08055	0.003	T	0.48305	-0.9047	10	0.02654	T	1	-9.8051	5.9415	0.19196	0.618:0.0:0.11:0.272	.	1008	Q9BXA9	SALL3_HUMAN	T	1008	ENSP00000441823:A1008T	ENSP00000299466:A1008T	A	+	1	0	SALL3	74856001	0.997000	0.39634	0.010000	0.14722	0.072000	0.16883	0.679000	0.25291	-0.598000	0.05806	0.561000	0.74099	GCG		0.517	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999	
ICAM5	7087	broad.mit.edu	37	19	10404738	10404738	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:10404738G>A	ENST00000221980.4	+	8	1797	c.1734G>A	c.(1732-1734)ccG>ccA	p.P578P		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	578	Ig-like C2-type 7.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.P578P(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TTGAGGAGCCGAGCTGCCCCA	0.622																																					p.P578P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1734A	19						.						41.0	47.0	45.0					19																	10404738		2196	4288	6484	10265738	SO:0001819	synonymous_variant	7087	exon8			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1734G>A	19.37:g.10404738G>A			10265738	NM_003259	Q9Y6F3	Silent	SNP	ENST00000221980.4	37	CCDS12233.1																																																																																				0.622	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259	
TYK2	7297	broad.mit.edu	37	19	10472834	10472834	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:10472834G>A	ENST00000525621.1	-	12	2174	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W	TYK2_ENST00000529370.1_Missense_Mutation_p.R565W|TYK2_ENST00000264818.6_Missense_Mutation_p.R565W|TYK2_ENST00000524462.1_Missense_Mutation_p.R380W	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	565					cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.R565W(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CGAGCCCCCCGCATGATGATG	0.637																																					p.R565W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1693T	19						.						42.0	48.0	46.0					19																	10472834		2203	4300	6503	10333834	SO:0001583	missense	7297	exon12				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.1693C>T	19.37:g.10472834G>A	ENSP00000431885:p.Arg565Trp		10333834	NM_003331	Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999808	0.35320	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	T;T;T;D	0.85013	-1.32;-1.32;-1.32;-1.93	4.92	3.88	0.44766	.	0.289374	0.21944	N	0.066835	D	0.90397	0.6994	M	0.78456	2.415	0.39556	D	0.969058	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.976	D	0.89853	0.4011	10	0.87932	D	0	-18.4692	6.4099	0.21686	0.0944:0.0:0.726:0.1797	.	565;565	E9PPF2;P29597	.;TYK2_HUMAN	W	380;565;565;312;565	ENSP00000433203:R380W;ENSP00000431885:R565W;ENSP00000264818:R565W;ENSP00000432728:R565W	ENSP00000264818:R565W	R	-	1	2	TYK2	10333834	0.052000	0.20516	0.404000	0.26397	0.022000	0.10575	0.215000	0.17562	1.059000	0.40554	0.561000	0.74099	CGG		0.637	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1		
SMARCA4	6597	broad.mit.edu	37	19	11100020	11100020	+	Silent	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:11100020T>C	ENST00000429416.3	+	8	1427	c.1146T>C	c.(1144-1146)atT>atC	p.I382I	SMARCA4_ENST00000444061.3_Silent_p.I382I|SMARCA4_ENST00000590574.1_Silent_p.I382I|SMARCA4_ENST00000450717.3_Silent_p.I382I|SMARCA4_ENST00000344626.4_Silent_p.I382I|SMARCA4_ENST00000589677.1_Silent_p.I382I|SMARCA4_ENST00000358026.2_Silent_p.I382I|SMARCA4_ENST00000413806.3_Silent_p.I382I|SMARCA4_ENST00000541122.2_Silent_p.I382I	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	382					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.I382I(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CACACCGAATTCAGGAACTTG	0.607			"""F, N, Mis"""		NSCLC																																p.I382I			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	.	.	2	Unknown(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.T1146C	19						.						89.0	90.0	90.0					19																	11100020		2203	4300	6503	10961020	SO:0001819	synonymous_variant	6597	exon7			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1146T>C	19.37:g.11100020T>C			10961020	NM_003072	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	CCDS12253.1																																																																																				0.607	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072	
SMARCA4	6597	broad.mit.edu	37	19	11136181	11136181	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:11136181C>T	ENST00000429416.3	+	23	3446	c.3165C>T	c.(3163-3165)atC>atT	p.I1055I	SMARCA4_ENST00000444061.3_Silent_p.I1055I|SMARCA4_ENST00000590574.1_Silent_p.I1055I|SMARCA4_ENST00000450717.3_Silent_p.I1055I|SMARCA4_ENST00000344626.4_Silent_p.I1055I|SMARCA4_ENST00000589677.1_Silent_p.I1055I|SMARCA4_ENST00000358026.2_Silent_p.I1055I|SMARCA4_ENST00000413806.3_Silent_p.I1055I|SMARCA4_ENST00000541122.2_Silent_p.I1055I	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1055					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)|p.I1055I(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCCAGCACATCGAGGTGAGCC	0.592			"""F, N, Mis"""		NSCLC																																p.I1055I			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	.	.	2	Unknown(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C3165T	19						.						84.0	69.0	74.0					19																	11136181		2203	4300	6503	10997181	SO:0001819	synonymous_variant	6597	exon22			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3165C>T	19.37:g.11136181C>T			10997181	NM_003072	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	CCDS12253.1																																																																																				0.592	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072	
ATP5D	513	broad.mit.edu	37	19	1244345	1244345	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:1244345C>T	ENST00000215375.2	+	4	517	c.416C>T	c.(415-417)gCg>gTg	p.A139V	ATP5D_ENST00000591660.1_Missense_Mutation_p.A139V|ATP5D_ENST00000395633.1_Missense_Mutation_p.A139V	NM_001687.4	NP_001678.1	P30049	ATPD_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit	139					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to copper ion (GO:0046688)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)	p.A139V(1)		large_intestine(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAGGCCCAGGCGGAGCTGGTG	0.692											OREG0025113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A139V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C416T	19						.						32.0	32.0	32.0					19																	1244345		2184	4279	6463	1195345	SO:0001583	missense	513	exon4			X63423	CCDS12058.1	19p13.3	2012-10-12			ENSG00000099624	ENSG00000099624		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	837	protein-coding gene	gene with protein product		603150				1531933	Standard	NM_001687		Approved		uc002lro.3	P30049		ENST00000215375.2:c.416C>T	19.37:g.1244345C>T	ENSP00000215375:p.Ala139Val	594	1195345	NM_001687	D6W5Y3|Q6FG90	Missense_Mutation	SNP	ENST00000215375.2	37	CCDS12058.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437436	0.62955	.	.	ENSG00000099624	ENST00000215375;ENST00000395633	.	.	.	4.82	4.82	0.62117	ATPase, F1 complex, delta/epsilon subunit, C-terminal (1);	0.300356	0.32852	N	0.005567	T	0.47154	0.1430	L	0.49126	1.545	0.34190	D	0.671919	D	0.52996	0.957	B	0.38880	0.284	T	0.65837	-0.6071	9	0.52906	T	0.07	-7.4357	17.0891	0.86618	0.0:1.0:0.0:0.0	.	139	P30049	ATPD_HUMAN	V	139	.	ENSP00000215375:A139V	A	+	2	0	ATP5D	1195345	0.992000	0.36948	0.424000	0.26647	0.385000	0.30292	5.427000	0.66483	2.701000	0.92244	0.556000	0.70494	GCG		0.692	ATP5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449958.1	NM_001687	
ZNF440	126070	broad.mit.edu	37	19	11943463	11943463	+	Missense_Mutation	SNP	G	G	A	rs375158417		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:11943463G>A	ENST00000304060.5	+	4	1636	c.1472G>A	c.(1471-1473)cGt>cAt	p.R491H		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	491					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.R491H(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGCAAGCAACGTTCAGTAGTT	0.388													g|||	1	0.000199681	0.0	0.0	5008	,	,		23046	0.001		0.0	False		,,,				2504	0.0				p.R491H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1472A	19						.	G	HIS/ARG	0,4354		0,0,2177	61.0	66.0	64.0		1472	0.1	0.0	19		64	2,8584	2.2+/-6.3	0,2,4291	no	missense	ZNF440	NM_152357.2	29	0,2,6468	AA,AG,GG		0.0233,0.0,0.0155	benign	491/596	11943463	2,12938	2177	4293	6470	11804463	SO:0001583	missense	126070	exon4			AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1472G>A	19.37:g.11943463G>A	ENSP00000305373:p.Arg491His		11804463	NM_152357	Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	g	0.064	-1.217034	0.01542	0.0	2.33E-4	ENSG00000171295	ENST00000304060	T	0.08102	3.13	1.19	0.0856	0.14442	.	.	.	.	.	T	0.04092	0.0114	N	0.05230	-0.09	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39901	-0.9591	9	0.72032	D	0.01	.	6.9904	0.24751	0.1714:0.0:0.8286:0.0	.	491	Q8IYI8	ZN440_HUMAN	H	491	ENSP00000305373:R491H	ENSP00000305373:R491H	R	+	2	0	ZNF440	11804463	0.196000	0.23350	0.001000	0.08648	0.000000	0.00434	-1.904000	0.01593	0.088000	0.17205	-1.026000	0.02426	CGT		0.388	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357	
ADAMTSL5	339366	broad.mit.edu	37	19	1508093	1508093	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:1508093C>A	ENST00000413997.2	-	7	534	c.535G>T	c.(535-537)Ggg>Tgg	p.G179W	ADAMTSL5_ENST00000395467.2_5'UTR|ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000330475.4_Missense_Mutation_p.G169W|CTB-25B13.9_ENST00000590252.1_RNA			Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	179						extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G169W(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAACAACCCATCACAGCCG	0.672																																					p.G169W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G505T	19						.						25.0	22.0	23.0					19																	1508093		2196	4295	6491	1459093	SO:0001583	missense	339366	exon7			BC040620	CCDS12071.1	19p13.3	2008-02-05	2006-02-07	2006-02-07		ENSG00000185761			27912	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain containing 6"""	THSD6			Standard	NM_213604		Approved		uc002ltd.2	Q6ZMM2		ENST00000413997.2:c.535G>T	19.37:g.1508093C>A	ENSP00000399364:p.Gly179Trp		1459093	NM_213604	B4DXK7|Q8IW95	Missense_Mutation	SNP	ENST00000413997.2	37		.	.	.	.	.	.	.	.	.	.	C	16.53	3.148651	0.57151	.	.	ENSG00000185761	ENST00000413997;ENST00000330475	T;T	0.63417	-0.04;-0.04	4.76	4.76	0.60689	.	0.419372	0.24866	N	0.034961	T	0.75591	0.3870	M	0.66297	2.02	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.69307	0.94;0.963	T	0.75045	-0.3456	10	0.37606	T	0.19	.	15.2533	0.73564	0.0:1.0:0.0:0.0	.	179;169	B4DXK7;Q6ZMM2	.;ATL5_HUMAN	W	179;169	ENSP00000399364:G179W;ENSP00000327608:G169W	ENSP00000327608:G169W	G	-	1	0	ADAMTSL5	1459093	0.991000	0.36638	0.995000	0.50966	0.628000	0.37860	2.236000	0.43052	2.188000	0.69820	0.455000	0.32223	GGG		0.672	ADAMTSL5-202	KNOWN	basic	protein_coding	protein_coding		XM_294919	
CACNA1A	773	broad.mit.edu	37	19	13394088	13394088	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:13394088C>T	ENST00000360228.5	-	22	3814	c.3815G>A	c.(3814-3816)cGg>cAg	p.R1272Q	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R1273Q	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1273					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.R1273Q(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CACGTTGTTCCGAGGTGCGTT	0.582																																					p.R1273Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3818A	19						.						102.0	110.0	107.0					19																	13394088		2176	4282	6458	13255088	SO:0001583	missense	773	exon22			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.3815G>A	19.37:g.13394088C>T	ENSP00000353362:p.Arg1272Gln		13255088	NM_001174080	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404249	0.62288	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.97505	-4.41	4.92	3.86	0.44501	.	0.000000	0.64402	D	0.000001	D	0.97673	0.9237	M	0.83012	2.62	0.47441	D	0.999421	P;D;B	0.59767	0.952;0.986;0.123	P;P;B	0.55713	0.556;0.782;0.009	D	0.97647	1.0152	10	0.87932	D	0	.	12.4391	0.55615	0.0:0.9152:0.0:0.0848	.	1273;1276;1272	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	Q	1272;1276;1273;1273	ENSP00000353362:R1272Q	ENSP00000317661:R1273Q	R	-	2	0	CACNA1A	13255088	0.028000	0.19301	0.450000	0.26969	0.894000	0.52154	2.404000	0.44539	1.061000	0.40601	0.561000	0.74099	CGG		0.582	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
ZNF333	84449	broad.mit.edu	37	19	14805848	14805848	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:14805848C>T	ENST00000292530.6	+	3	121	c.30C>T	c.(28-30)gcC>gcT	p.A10A	ZNF333_ENST00000540689.2_Silent_p.A10A|ZNF333_ENST00000536363.1_5'UTR|ZNF333_ENST00000601134.1_Silent_p.A10A|ZNF333_ENST00000601629.1_3'UTR	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	10	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A10A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						AGGATGTGGCCGTGGAGTTCA	0.562																																					p.A10A	NSCLC(60;75 1281 16985 25154 29885)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C30T	19						.						213.0	177.0	189.0					19																	14805848		2203	4300	6503	14666848	SO:0001819	synonymous_variant	84449	exon3				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.30C>T	19.37:g.14805848C>T			14666848	NM_032433	Q6P2E6|Q86WS6|Q8TDL0	Silent	SNP	ENST00000292530.6	37	CCDS12316.1																																																																																				0.562	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433	
SLC1A6	6511	broad.mit.edu	37	19	15082641	15082641	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:15082641C>T	ENST00000221742.3	-	2	258	c.251G>A	c.(250-252)cGc>cAc	p.R84H	SLC1A6_ENST00000544886.2_Missense_Mutation_p.R84H|SLC1A6_ENST00000598504.1_Missense_Mutation_p.R84H|SLC1A6_ENST00000600144.1_Missense_Mutation_p.R84H|SLC1A6_ENST00000430939.2_Silent_p.P88P	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	84					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.R84H(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CTTGATCTGGCGGTAGGTGAG	0.567																																					p.R84H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G251A	19						.						132.0	117.0	122.0					19																	15082641		2203	4300	6503	14943641	SO:0001583	missense	6511	exon2				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.251G>A	19.37:g.15082641C>T	ENSP00000221742:p.Arg84His		14943641	NM_005071	Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116966	0.77323	.	.	ENSG00000105143	ENST00000221742;ENST00000544886;ENST00000542610	T;T	0.59083	0.29;0.29	4.26	3.22	0.36961	.	0.116150	0.56097	N	0.000031	T	0.68485	0.3006	L	0.60957	1.885	0.47308	D	0.999385	D;D;P	0.89917	1.0;1.0;0.594	D;D;B	0.83275	0.982;0.996;0.136	T	0.67173	-0.5737	10	0.46703	T	0.11	-11.8749	9.6843	0.40089	0.0:0.8972:0.0:0.1028	.	84;85;84	Q8N753;Q59GB0;P48664	.;.;EAA4_HUMAN	H	84;84;85	ENSP00000221742:R84H;ENSP00000446175:R84H	ENSP00000221742:R84H	R	-	2	0	SLC1A6	14943641	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.554000	0.60760	1.001000	0.39076	0.561000	0.74099	CGC		0.567	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071	
RAB8A	4218	broad.mit.edu	37	19	16240378	16240378	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:16240378C>T	ENST00000300935.3	+	7	768	c.495C>T	c.(493-495)ctC>ctT	p.L165L	RAB8A_ENST00000586682.1_Intron|CTD-2231E14.8_ENST00000597983.1_RNA	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	165					axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.L165L(1)		endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						TTTTCACTCTCGCCAGAGATA	0.532																																					p.L165L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C495T	19						.						179.0	174.0	175.0					19																	16240378		2203	4300	6503	16101378	SO:0001819	synonymous_variant	4218	exon7				CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"""RAB, member RAS oncogene"""	7007	protein-coding gene	gene with protein product		165040	"""mel transforming oncogene (derived from cell line NK14)"""	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.495C>T	19.37:g.16240378C>T			16101378	NM_005370	B4DEK7|P24407|Q6FHV5	Missense_Mutation	SNP	ENST00000300935.3	37	CCDS12339.1																																																																																				0.532	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460186.1	NM_005370	
F2RL3	9002	broad.mit.edu	37	19	17004089	17004089	+	IGR	SNP	C	C	T	rs538315226	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:17004089C>T	ENST00000248076.3	+	0	3473				CPAMD8_ENST00000597335.1_5'Flank|CPAMD8_ENST00000443236.1_Missense_Mutation_p.A1877T	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3						blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)	p.A1877T(1)		cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AACGGGCTGGCGCTCTGGGTG	0.632													C|||	2	0.000399361	0.0	0.0	5008	,	,		16430	0.0		0.001	False		,,,				2504	0.001				p.A1877T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5629A	19						.						15.0	16.0	16.0					19																	17004089		1915	4102	6017	16865089	SO:0001628	intergenic_variant	27151	exon42			AF055917	CCDS12350.1	19p12	2012-08-08						"""GPCR / Class A : Protease activated receptors"""	3540	protein-coding gene	gene with protein product	"""proteinase-activated receptor-4"""	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0			19.37:g.17004089C>T			16865089	NM_015692	O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	CCDS12350.1	.	.	.	.	.	.	.	.	.	.	C	0.044	-1.272782	0.01421	.	.	ENSG00000160111	ENST00000291440	.	.	.	1.81	-2.52	0.06346	.	.	.	.	.	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.10450	0.005	T	0.19031	-1.0318	8	0.87932	D	0	.	3.7107	0.08418	0.3144:0.4913:0.1943:0.0	.	1830	Q8IZJ3	CPMD8_HUMAN	T	1877	.	ENSP00000291440:A1877T	A	-	1	0	CPAMD8	16865089	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.078000	0.03413	-0.692000	0.05128	-0.792000	0.03331	GCC		0.632	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1		
JAK3	3718	broad.mit.edu	37	19	17945701	17945701	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:17945701C>T	ENST00000527670.1	-	15	2188	c.2159G>A	c.(2158-2160)aGt>aAt	p.S720N	JAK3_ENST00000534444.1_Missense_Mutation_p.S720N|JAK3_ENST00000458235.1_Missense_Mutation_p.S720N			P52333	JAK3_HUMAN	Janus kinase 3	720	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.S720N(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GGTGACGCCACTAAACACTTC	0.627		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																p.S720N			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2159A	19						.						78.0	85.0	83.0					19																	17945701		2203	4300	6503	17806701	SO:0001583	missense	3718	exon16			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2159G>A	19.37:g.17945701C>T	ENSP00000432511:p.Ser720Asn		17806701	NM_000215	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	0.281	-0.986234	0.02180	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	T;T;T	0.63744	-0.06;-0.06;-0.06	4.89	4.89	0.63831	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.050694	0.85682	D	0.000000	T	0.48314	0.1493	L	0.48174	1.505	0.42943	D	0.994351	B;B	0.28350	0.208;0.016	B;B	0.29862	0.108;0.038	T	0.40308	-0.9570	10	0.02654	T	1	-19.0955	9.2384	0.37481	0.0:0.9002:0.0:0.0998	.	720;720	P52333-2;P52333	.;JAK3_HUMAN	N	720	ENSP00000391676:S720N;ENSP00000432511:S720N;ENSP00000436421:S720N	ENSP00000391676:S720N	S	-	2	0	JAK3	17806701	0.992000	0.36948	0.928000	0.36995	0.038000	0.13279	2.917000	0.48821	2.255000	0.74692	0.555000	0.69702	AGT		0.627	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215	
MAST3	23031	broad.mit.edu	37	19	18245498	18245498	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:18245498G>A	ENST00000262811.6	+	15	1594	c.1594G>A	c.(1594-1596)Gcc>Acc	p.A532T		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	532	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.A554T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CGAGAAGGACGCCCGAGAGTT	0.647																																					p.A532T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1594A	19						.						37.0	41.0	39.0					19																	18245498		2146	4274	6420	18106498	SO:0001583	missense	23031	exon15			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1594G>A	19.37:g.18245498G>A	ENSP00000262811:p.Ala532Thr		18106498	NM_015016	Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	3.925	-0.017391	0.07681	.	.	ENSG00000099308	ENST00000262811	T	0.64803	-0.12	4.86	2.67	0.31697	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.147156	0.64402	N	0.000013	T	0.38427	0.1040	L	0.28192	0.835	0.36411	D	0.863704	B	0.02656	0.0	B	0.06405	0.002	T	0.33624	-0.9861	10	0.02654	T	1	-15.4682	6.2031	0.20587	0.5811:0.0:0.4189:0.0	.	532	O60307	MAST3_HUMAN	T	532	ENSP00000262811:A532T	ENSP00000262811:A532T	A	+	1	0	MAST3	18106498	1.000000	0.71417	0.921000	0.36526	0.475000	0.33008	3.136000	0.50554	0.340000	0.23745	0.305000	0.20034	GCC		0.647	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150	
MAST3	23031	broad.mit.edu	37	19	18255452	18255452	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:18255452C>T	ENST00000262811.6	+	22	2674	c.2674C>T	c.(2674-2676)Cgc>Tgc	p.R892C	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	892	Ser-rich.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R914C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CAGTGGGGGCCGCGTGCCCAA	0.667																																					p.R892C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2674T	19						.						33.0	43.0	40.0					19																	18255452		2139	4236	6375	18116452	SO:0001583	missense	23031	exon22			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2674C>T	19.37:g.18255452C>T	ENSP00000262811:p.Arg892Cys		18116452	NM_015016	Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137448	0.37728	.	.	ENSG00000099308	ENST00000262811	T	0.68624	-0.34	4.79	2.58	0.30949	.	0.073816	0.53938	D	0.000049	T	0.58163	0.2103	L	0.54323	1.7	0.45403	D	0.998387	B	0.14805	0.011	B	0.06405	0.002	T	0.55379	-0.8150	10	0.87932	D	0	-4.9439	8.4466	0.32845	0.1533:0.7646:0.0:0.0821	.	892	O60307	MAST3_HUMAN	C	892	ENSP00000262811:R892C	ENSP00000262811:R892C	R	+	1	0	MAST3	18116452	0.998000	0.40836	0.890000	0.34922	0.603000	0.37013	1.270000	0.33086	0.412000	0.25729	0.491000	0.48974	CGC		0.667	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150	
KIAA1683	80726	broad.mit.edu	37	19	18378026	18378026	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:18378026C>T	ENST00000600328.3	-	3	517	c.324G>A	c.(322-324)acG>acA	p.T108T	KIAA1683_ENST00000600359.3_Silent_p.T62T|KIAA1683_ENST00000392413.4_Silent_p.T108T			Q9H0B3	K1683_HUMAN	KIAA1683	108	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.T108T(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTTGGATGAGCGTGGCTGCAC	0.637																																					p.T108T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G324A	19						.						70.0	68.0	69.0					19																	18378026		2203	4300	6503	18239026	SO:0001819	synonymous_variant	80726	exon3			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.324G>A	19.37:g.18378026C>T			18239026	NM_025249	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	CCDS32958.1																																																																																				0.637	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3		
ELL	8178	broad.mit.edu	37	19	18557267	18557267	+	Missense_Mutation	SNP	G	G	A	rs574270231		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:18557267G>A	ENST00000262809.4	-	10	1627	c.1556C>T	c.(1555-1557)tCg>tTg	p.S519L	ELL_ENST00000596124.3_Missense_Mutation_p.S386L|CTD-3137H5.1_ENST00000594590.2_RNA	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	519					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)	p.S519L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		GCGCTGCTCCGAAGAGGAGAT	0.627			T	MLL	AL								g|||	1	0.000199681	0.0	0.0014	5008	,	,		18628	0.0		0.0	False		,,,				2504	0.0				p.S519L			Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1556T	19						.						56.0	52.0	54.0					19																	18557267		2203	4299	6502	18418267	SO:0001583	missense	8178	exon10			U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1556C>T	19.37:g.18557267G>A	ENSP00000262809:p.Ser519Leu		18418267	NM_006532		Missense_Mutation	SNP	ENST00000262809.4	37	CCDS12380.1	.	.	.	.	.	.	.	.	.	.	G	9.977	1.226989	0.22542	.	.	ENSG00000105656	ENST00000262809	T	0.21031	2.03	4.62	3.57	0.40892	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.074590	0.56097	D	0.000027	T	0.08447	0.0210	N	0.11284	0.12	0.40711	D	0.982578	P;P	0.38677	0.642;0.589	B;B	0.29785	0.107;0.098	T	0.25984	-1.0116	10	0.11794	T	0.64	-14.1315	11.201	0.48741	0.0:0.0:0.6452:0.3548	.	463;519	Q59HG4;P55199	.;ELL_HUMAN	L	519	ENSP00000262809:S519L	ENSP00000262809:S519L	S	-	2	0	ELL	18418267	0.991000	0.36638	0.114000	0.21550	0.794000	0.44872	2.922000	0.48860	1.128000	0.42052	0.543000	0.68304	TCG		0.627	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532	
LPAR2	9170	broad.mit.edu	37	19	19735209	19735209	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:19735209G>A	ENST00000542587.1	-	6	1814	c.912C>T	c.(910-912)cgC>cgT	p.R304R	LPAR2_ENST00000407877.3_Silent_p.R304R|LPAR2_ENST00000586703.1_Silent_p.R304R			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	304					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of Rho protein signal transduction (GO:0035025)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)	p.R304R(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						GGCGGAAGGTGCGGCGCATCT	0.602																																					p.R304R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C912T	19						.						99.0	86.0	91.0					19																	19735209		2203	4300	6503	19596209	SO:0001819	synonymous_variant	9170	exon3			AF011466	CCDS12407.1	19p12	2012-08-08	2008-04-11	2008-04-11		ENSG00000064547		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3168	protein-coding gene	gene with protein product		605110	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4"""	EDG4		9525886, 9804623	Standard	NM_004720		Approved	EDG-4, LPA2	uc002nnb.4	Q9HBW0		ENST00000542587.1:c.912C>T	19.37:g.19735209G>A			19596209	NM_004720	O00543|O43431	Silent	SNP	ENST00000542587.1	37	CCDS12407.1																																																																																				0.602	LPAR2-003	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460544.1	NM_004720	
ATP13A1	57130	broad.mit.edu	37	19	19764900	19764900	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:19764900G>A	ENST00000357324.6	-	14	1893	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	ATP13A1_ENST00000291503.5_Missense_Mutation_p.R505C|ATP13A1_ENST00000496082.1_Intron	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	623						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.R623C(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AAATGAAAGCGCTGGTGAATT	0.527																																					p.R623C	Esophageal Squamous(142;920 1789 9047 14684 24777)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1867T	19						.						52.0	61.0	58.0					19																	19764900		2202	4297	6499	19625900	SO:0001583	missense	57130	exon14			AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.1867C>T	19.37:g.19764900G>A	ENSP00000349877:p.Arg623Cys		19625900	NM_020410	B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935967	0.73442	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	T;T	0.70749	-0.51;-0.51	5.19	5.19	0.71726	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.87168	0.6110	H	0.95004	3.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.77557	0.99;0.612	D	0.89767	0.3951	10	0.87932	D	0	-32.1164	11.315	0.49386	0.0:0.0:0.818:0.1819	.	623;505	Q9HD20;Q9HD20-2	AT131_HUMAN;.	C	505;623	ENSP00000291503:R505C;ENSP00000349877:R623C	ENSP00000291503:R505C	R	-	1	0	ATP13A1	19625900	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.806000	0.69150	2.434000	0.82447	0.462000	0.41574	CGC		0.527	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410	
ATP13A1	57130	broad.mit.edu	37	19	19767480	19767480	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:19767480G>A	ENST00000357324.6	-	7	1098	c.1072C>T	c.(1072-1074)Cca>Tca	p.P358S	ATP13A1_ENST00000291503.5_Missense_Mutation_p.P240S|ATP13A1_ENST00000496082.1_5'Flank	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	358						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.P358S(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TTCATCTGTGGCACGGACTCC	0.642																																					p.P358S	Esophageal Squamous(142;920 1789 9047 14684 24777)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1072T	19						.						52.0	47.0	49.0					19																	19767480		2203	4300	6503	19628480	SO:0001583	missense	57130	exon7			AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.1072C>T	19.37:g.19767480G>A	ENSP00000349877:p.Pro358Ser		19628480	NM_020410	B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327105	0.60743	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.92099	-2.97;-2.97	4.89	4.89	0.63831	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96399	0.8825	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.931	D	0.97067	0.9775	10	0.87932	D	0	-20.6208	15.9147	0.79503	0.0:0.0:1.0:0.0	.	358;240	Q9HD20;Q9HD20-2	AT131_HUMAN;.	S	240;358	ENSP00000291503:P240S;ENSP00000349877:P358S	ENSP00000291503:P240S	P	-	1	0	ATP13A1	19628480	1.000000	0.71417	1.000000	0.80357	0.102000	0.19082	7.547000	0.82146	2.413000	0.81919	0.563000	0.77884	CCA		0.642	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410	
SPPL2B	56928	broad.mit.edu	37	19	2344557	2344557	+	RNA	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:2344557A>G	ENST00000452401.2	+	0	1260							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)	p.M394V(1)					Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCTGCCCATGGTCCTGAA	0.627																																					p.P394P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1182G	19						.						59.0	68.0	65.0					19																	2344557		2117	4216	6333	2295557			56928	exon12				CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"""intramembrane protease 4"""	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2344557A>G			2295557	NM_001077238	D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	Missense_Mutation	SNP	ENST00000452401.2	37		.	.	.	.	.	.	.	.	.	.	A	9.158	1.018056	0.19355	.	.	ENSG00000005206	ENST00000452401	.	.	.	4.12	4.12	0.48240	.	0.081755	0.85682	D	0.000000	T	0.36690	0.0976	.	.	.	0.39447	D	0.967335	P;B	0.40000	0.698;0.357	B;B	0.40702	0.338;0.186	T	0.47032	-0.9148	7	0.18710	T	0.47	-36.0703	12.0079	0.53270	1.0:0.0:0.0:0.0	.	395;394	Q8TCT7;C9JFE6	PSL1_HUMAN;.	V	394	.	ENSP00000404539:M394V	M	+	1	0	AC004410.1	2295557	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	7.030000	0.76484	1.523000	0.49018	0.409000	0.27619	ATG		0.627	SPPL2B-202	KNOWN	basic	processed_transcript	processed_transcript		NM_020172	
TLE6	79816	broad.mit.edu	37	19	2991865	2991865	+	Silent	SNP	A	A	C	rs147020368	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:2991865A>C	ENST00000246112.4	+	14	1470	c.1269A>C	c.(1267-1269)ggA>ggC	p.G423G	TLE6_ENST00000452088.1_Silent_p.G300G	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	423					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.G300G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCTGATGGAGTCAAGAGTA	0.567																																					p.G423G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1269C	19						.						92.0	74.0	80.0					19																	2991865		2203	4300	6503	2942865	SO:0001819	synonymous_variant	79816	exon14			AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"""WD repeat domain containing"""	30788	protein-coding gene	gene with protein product		612399	"""transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"""			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.1269A>C	19.37:g.2991865A>C			2942865	NM_001143986	J3KMZ1	Silent	SNP	ENST00000246112.4	37	CCDS45910.1																																																																																				0.567	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	NM_024760	
NFIC	4782	broad.mit.edu	37	19	3452663	3452663	+	Splice_Site	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:3452663C>T	ENST00000443272.2	+	8	1319	c.1268C>T	c.(1267-1269)cCg>cTg	p.P423L	NFIC_ENST00000341919.3_Splice_Site_p.P423L|NFIC_ENST00000395111.3_Splice_Site_p.P414L|NFIC_ENST00000346156.5_Splice_Site_p.P390L|NFIC_ENST00000589123.1_Splice_Site_p.P414L|NFIC_ENST00000586919.1_Splice_Site_p.P390L|NFIC_ENST00000590282.1_Splice_Site_p.P423L	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	423					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P414L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CAACCTGGACCGGTGAGTTGG	0.662																																					p.P423L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1268T	19						.						65.0	66.0	66.0					19																	3452663		2203	4300	6503	3403663	SO:0001630	splice_region_variant	4782	exon8			X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.1269+1C>T	19.37:g.3452663C>T			3403663	NM_005597	A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	37	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075732	0.55646	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.43294	0.95;0.95;0.95	4.16	4.16	0.48862	.	0.064585	0.64402	D	0.000007	T	0.46132	0.1377	L	0.50333	1.59	0.80722	D	1	P;D;P;P;D	0.57571	0.95;0.98;0.938;0.938;0.975	P;P;B;B;B	0.48425	0.553;0.577;0.344;0.441;0.441	T	0.53940	-0.8367	10	0.87932	D	0	-14.4282	15.0657	0.71992	0.0:1.0:0.0:0.0	.	423;423;414;423;414	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	L	414;414;390;423;423;423	ENSP00000378543:P414L;ENSP00000301935:P390L;ENSP00000342194:P423L	ENSP00000269778:P423L	P	+	2	0	NFIC	3403663	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.265000	0.78442	1.874000	0.54306	0.555000	0.69702	CCG		0.662	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597	Missense_Mutation
TJP3	27134	broad.mit.edu	37	19	3733756	3733756	+	Silent	SNP	C	C	T	rs143166408		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:3733756C>T	ENST00000541714.2	+	7	1185	c.723C>T	c.(721-723)aaC>aaT	p.N241N	TJP3_ENST00000262968.9_Silent_p.N260N|TJP3_ENST00000539908.2_Silent_p.N205N|TJP3_ENST00000587686.1_Silent_p.N260N|TJP3_ENST00000589378.1_Silent_p.N250N|TJP3_ENST00000382008.3_Silent_p.N241N	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	241	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)		p.N260N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCAGATCAACGGGGTGTCTA	0.517																																					p.N260N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C780T	19						.	C		3,4403	6.2+/-15.9	0,3,2200	207.0	218.0	214.0		780	-8.6	0.7	19	dbSNP_134	214	0,8600		0,0,4300	no	coding-synonymous	TJP3	NM_014428.1		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		260/953	3733756	3,13003	2203	4300	6503	3684756	SO:0001819	synonymous_variant	27134	exon6			AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.723C>T	19.37:g.3733756C>T			3684756	NM_014428	A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Silent	SNP	ENST00000541714.2	37	CCDS32873.2																																																																																				0.517	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1		
MATK	4145	broad.mit.edu	37	19	3784219	3784219	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:3784219C>T	ENST00000310132.6	-	5	663	c.265G>A	c.(265-267)Gtc>Atc	p.V89I	MATK_ENST00000395040.2_Missense_Mutation_p.V48I|MATK_ENST00000585778.1_Missense_Mutation_p.V89I|MATK_ENST00000395045.2_Missense_Mutation_p.V90I	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	89	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.V89I(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGCTTGACGCGGTACCAG	0.692																																					p.V48I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G142A	19						.						55.0	60.0	58.0					19																	3784219		2203	4300	6503	3735219	SO:0001583	missense	4145	exon4			L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.265G>A	19.37:g.3784219C>T	ENSP00000308734:p.Val89Ile		3735219	NM_139354	B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	c	15.62	2.888193	0.52014	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	T;T;T	0.19938	2.11;2.11;2.11	4.55	3.48	0.39840	Src homology-3 domain (4);	0.208574	0.40222	N	0.001151	T	0.18341	0.0440	L	0.43152	1.355	0.22156	N	0.999329	B;B;B	0.18863	0.009;0.031;0.009	B;B;B	0.15870	0.009;0.014;0.009	T	0.19614	-1.0300	10	0.87932	D	0	-13.8915	10.1216	0.42623	0.1531:0.699:0.148:0.0	.	89;90;89	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	I	90;89;48	ENSP00000378485:V90I;ENSP00000308734:V89I;ENSP00000378481:V48I	ENSP00000308734:V89I	V	-	1	0	MATK	3735219	1.000000	0.71417	0.979000	0.43373	0.707000	0.40811	7.043000	0.76572	0.852000	0.35287	0.306000	0.20318	GTC		0.692	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355	
ZNF429	353088	broad.mit.edu	37	19	21720811	21720811	+	Silent	SNP	T	T	C	rs373941390		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:21720811T>C	ENST00000358491.4	+	4	2164	c.1956T>C	c.(1954-1956)tgT>tgC	p.C652C	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	652					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.C652C(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ctcatgcctgtaatcccagca	0.478																																					p.C652C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1956C	19						.	T		1,3851		0,1,1925	32.0	33.0	33.0		1956	0.4	0.1	19		33	0,8266		0,0,4133	no	coding-synonymous	ZNF429	NM_001001415.2		0,1,6058	CC,CT,TT		0.0,0.026,0.0083		652/675	21720811	1,12117	1926	4133	6059	21512651	SO:0001819	synonymous_variant	353088	exon4			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1956T>C	19.37:g.21720811T>C			21512651	NM_001001415	A6NLV7|Q9BZE6	Silent	SNP	ENST00000358491.4	37	CCDS42537.1																																																																																				0.478	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415	
ZFR2	23217	broad.mit.edu	37	19	3831746	3831746	+	Silent	SNP	C	C	T	rs372903783		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:3831746C>T	ENST00000262961.4	-	4	520	c.510G>A	c.(508-510)acG>acA	p.T170T	ZFR2_ENST00000591965.1_5'UTR	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	170							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.T170T(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CGCCTGTCGCCGTGGGGTAGG	0.667																																					p.T170T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G510A	19						.	C		0,4286		0,0,2143	24.0	28.0	27.0		510	-4.7	0.0	19		27	3,8473		0,3,4235	no	coding-synonymous	ZFR2	NM_015174.1		0,3,6378	TT,TC,CC		0.0354,0.0,0.0235		170/940	3831746	3,12759	2143	4238	6381	3782746	SO:0001819	synonymous_variant	23217	exon4			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.510G>A	19.37:g.3831746C>T			3782746	NM_015174		Silent	SNP	ENST00000262961.4	37	CCDS45921.1																																																																																				0.667	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174	
ATCAY	85300	broad.mit.edu	37	19	3909578	3909578	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:3909578G>T	ENST00000450849.2	+	7	1209	c.742G>T	c.(742-744)Ggc>Tgc	p.G248C	ATCAY_ENST00000398448.3_Missense_Mutation_p.G254C|ATCAY_ENST00000301260.6_Missense_Mutation_p.G248C|ATCAY_ENST00000600960.1_Missense_Mutation_p.G248C	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	248	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Mediates interaction with GLS.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)	p.G248C(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GCCTGGAATCGGCTGGCTGAA	0.592																																					p.G248C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G742T	19						.						37.0	42.0	40.0					19																	3909578		2125	4230	6355	3860578	SO:0001583	missense	85300	exon7				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.742G>T	19.37:g.3909578G>T	ENSP00000390941:p.Gly248Cys		3860578	NM_033064	Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	37	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040355	0.75732	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.27557	1.66;1.66;1.66	5.23	4.19	0.49359	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.297233	0.41712	D	0.000824	T	0.57725	0.2073	M	0.86953	2.85	0.42041	D	0.991077	D;D;D	0.69078	0.994;0.997;0.989	D;P;P	0.66084	0.941;0.904;0.908	T	0.66697	-0.5858	10	0.87932	D	0	-29.3315	12.929	0.58276	0.0791:0.0:0.9209:0.0	.	254;248;248	B4DS11;Q86WG3-3;Q86WG3	.;.;ATCAY_HUMAN	C	248;248;248;254;226	ENSP00000390941:G248C;ENSP00000301260:G248C;ENSP00000381466:G254C	ENSP00000301260:G248C	G	+	1	0	ATCAY	3860578	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	4.772000	0.62324	1.213000	0.43380	0.585000	0.79938	GGC		0.592	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2		
ANKRD27	84079	broad.mit.edu	37	19	33089118	33089118	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:33089118A>G	ENST00000306065.4	-	29	3244	c.3086T>C	c.(3085-3087)gTg>gCg	p.V1029A		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	1029					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.V1029A(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GCCCTGGGACACGACCGCATC	0.617																																					p.V1029A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3086C	19						.						81.0	79.0	80.0					19																	33089118		2203	4300	6503	37780958	SO:0001583	missense	84079	exon29			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.3086T>C	19.37:g.33089118A>G	ENSP00000304292:p.Val1029Ala		37780958	NM_032139	Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.685124	0.29872	.	.	ENSG00000105186	ENST00000306065	T	0.69040	-0.37	4.95	-3.94	0.04130	.	0.735583	0.11040	N	0.606177	T	0.52338	0.1728	L	0.56769	1.78	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40365	-0.9567	10	0.38643	T	0.18	4.3056	2.8614	0.05588	0.2892:0.4349:0.1661:0.1098	.	1029	Q96NW4	ANR27_HUMAN	A	1029	ENSP00000304292:V1029A	ENSP00000304292:V1029A	V	-	2	0	ANKRD27	37780958	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.443000	0.06862	-0.915000	0.03823	-0.316000	0.08728	GTG		0.617	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139	
GPI	2821	broad.mit.edu	37	19	34884165	34884165	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:34884165C>T	ENST00000356487.5	+	10	1058	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	GPI_ENST00000415930.3_Missense_Mutation_p.R284C|GPI_ENST00000586425.1_Missense_Mutation_p.R273C	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	273			R -> H (in HA-GPID). {ECO:0000269|PubMed:7989588}.		aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)	p.R273C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GGTGGGAGGACGCTACTCGCT	0.632																																					p.R273C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C817T	19						.						159.0	125.0	137.0					19																	34884165		2203	4300	6503	39576005	SO:0001583	missense	2821	exon10			M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.817C>T	19.37:g.34884165C>T	ENSP00000348877:p.Arg273Cys		39576005	NM_000175	B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	37	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000398	0.93227	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.98207	-4.79;-4.79	4.6	4.6	0.57074	Phosphoglucose isomerase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99372	0.9779	H	0.97340	3.985	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	0.98387	1.0561	10	0.87932	D	0	-8.5613	17.4348	0.87548	0.0:1.0:0.0:0.0	.	245;284;256;273	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	C	284;273	ENSP00000405573:R284C;ENSP00000348877:R273C	ENSP00000348877:R273C	R	+	1	0	GPI	39576005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.553000	0.67287	2.104000	0.64026	0.555000	0.69702	CGC		0.632	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3		
CD22	933	broad.mit.edu	37	19	35835825	35835825	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:35835825G>A	ENST00000085219.5	+	10	2195	c.2129G>A	c.(2128-2130)cGa>cAa	p.R710Q	CD22_ENST00000419549.2_Missense_Mutation_p.R538Q|CD22_ENST00000536635.2_Missense_Mutation_p.R622Q|CD22_ENST00000594250.1_Missense_Mutation_p.R533Q|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000544992.2_Missense_Mutation_p.R710Q|CD22_ENST00000270311.6_Missense_Mutation_p.R590Q|CD22_ENST00000341773.6_Missense_Mutation_p.R533Q	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	710					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.R710Q(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AAGCTCCAGCGACGGTGAGCT	0.642																																					p.R710Q	Ovarian(42;1009 1133 23674 26041)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2129A	19						.						85.0	86.0	86.0					19																	35835825		2203	4300	6503	40527665	SO:0001583	missense	933	exon10			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2129G>A	19.37:g.35835825G>A	ENSP00000085219:p.Arg710Gln		40527665	NM_001185100	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159154	0.21454	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000270311;ENST00000419549	T;T;T;T;T;T	0.56103	0.89;0.5;0.48;0.86;0.8;0.97	5.37	-6.58	0.01836	.	1.317480	0.05605	N	0.577022	T	0.29524	0.0736	N	0.20685	0.6	0.09310	N	1	B;B;P;B;P	0.44627	0.032;0.015;0.686;0.032;0.839	B;B;B;B;B	0.34385	0.003;0.009;0.095;0.007;0.181	T	0.41413	-0.9510	10	0.51188	T	0.08	.	8.9882	0.36008	0.7282:0.0:0.1504:0.1214	.	538;710;622;710;533	Q32M46;F5GYU4;F5H7U3;P20273;P20273-2	.;.;.;CD22_HUMAN;.	Q	710;622;533;710;590;538	ENSP00000085219:R710Q;ENSP00000442279:R622Q;ENSP00000339349:R533Q;ENSP00000441237:R710Q;ENSP00000270311:R590Q;ENSP00000403822:R538Q	ENSP00000085219:R710Q	R	+	2	0	CD22	40527665	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.487000	0.06505	-1.331000	0.02252	-0.244000	0.11960	CGA		0.642	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771	
CREB3L3	84699	broad.mit.edu	37	19	4157142	4157142	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:4157142C>T	ENST00000078445.2	+	3	454	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	CREB3L3_ENST00000252587.3_Missense_Mutation_p.R93C|CREB3L3_ENST00000602257.1_Missense_Mutation_p.R103C|CREB3L3_ENST00000595923.1_Missense_Mutation_p.R102C|CREB3L3_ENST00000602147.1_Missense_Mutation_p.R103C	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	103					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.R103C(1)		breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCCCTCCACGCAGCGGACC	0.667																																					p.R103C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C307T	19						.						57.0	55.0	55.0					19																	4157142		2203	4300	6503	4108142	SO:0001583	missense	84699	exon3				CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.307C>T	19.37:g.4157142C>T	ENSP00000078445:p.Arg103Cys		4108142	NM_032607	B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650524	0.29336	.	.	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	D;D	0.83837	-1.77;-1.77	4.75	-0.855	0.10700	.	1.049330	0.07449	N	0.898698	T	0.73171	0.3553	L	0.48362	1.52	0.09310	N	1	B;B;B;B	0.21381	0.012;0.033;0.055;0.033	B;B;B;B	0.12156	0.003;0.007;0.007;0.003	T	0.59716	-0.7402	10	0.54805	T	0.06	-22.6356	1.9093	0.03284	0.16:0.4728:0.1574:0.2098	.	103;103;102;103	Q68CJ9-3;B7ZL69;Q68CJ9-2;Q68CJ9	.;.;.;CR3L3_HUMAN	C	103;103;93	ENSP00000078445:R103C;ENSP00000252587:R93C	ENSP00000078445:R103C	R	+	1	0	CREB3L3	4108142	0.003000	0.15002	0.001000	0.08648	0.305000	0.27757	0.538000	0.23160	0.056000	0.16144	0.537000	0.68136	CGC		0.667	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607	
SBSN	374897	broad.mit.edu	37	19	36018890	36018890	+	Silent	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:36018890G>T	ENST00000452271.2	-	1	322	c.294C>A	c.(292-294)gcC>gcA	p.A98A	SBSN_ENST00000518157.1_Silent_p.A98A	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	98	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.A98A(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGATCTCATGGGCAACCTTGT	0.552																																					p.A98A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C294A	19						.						236.0	208.0	217.0					19																	36018890		2203	4300	6503	40710730	SO:0001819	synonymous_variant	374897	exon1			AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.294C>A	19.37:g.36018890G>T			40710730	NM_001166034	A8K5J0|E9PBV3	Silent	SNP	ENST00000452271.2	37	CCDS54253.1																																																																																				0.552	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538	
WDR62	284403	broad.mit.edu	37	19	36590380	36590380	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:36590380G>A	ENST00000270301.7	+	22	2600	c.2600G>A	c.(2599-2601)cGg>cAg	p.R867Q	WDR62_ENST00000401500.2_Missense_Mutation_p.R867Q			O43379	WDR62_HUMAN	WD repeat domain 62	867					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.R867Q(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGGGCAGAGCGGGCCGGCCAA	0.607																																					p.R867Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2600A	19						.						45.0	47.0	46.0					19																	36590380		2203	4300	6503	41282220	SO:0001583	missense	284403	exon22			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2600G>A	19.37:g.36590380G>A	ENSP00000270301:p.Arg867Gln		41282220	NM_001083961	Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735373	0.49045	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.49139	0.79;0.79	5.31	5.31	0.75309	.	0.099394	0.42548	D	0.000683	T	0.60560	0.2278	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	1.0;0.97	D;B	0.85130	0.997;0.28	T	0.55211	-0.8176	10	0.30078	T	0.28	-29.5288	14.4721	0.67523	0.0:0.0:1.0:0.0	.	867;867	O43379-4;O43379	.;WDR62_HUMAN	Q	867	ENSP00000384792:R867Q;ENSP00000270301:R867Q	ENSP00000270301:R867Q	R	+	2	0	WDR62	41282220	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	3.306000	0.51881	2.490000	0.84030	0.655000	0.94253	CGG		0.607	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671	
RYR1	6261	broad.mit.edu	37	19	38956881	38956881	+	Silent	SNP	C	C	T	rs143891703		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:38956881C>T	ENST00000359596.3	+	24	3021	c.3021C>T	c.(3019-3021)agC>agT	p.S1007S	RYR1_ENST00000360985.3_Silent_p.S1007S|RYR1_ENST00000355481.4_Silent_p.S1007S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1007	6 X approximate repeats.				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.S1007S(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)	GGAGCTACAGCGCAGTGCAGG	0.682																																					p.S1007S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3021T	19						.	C	,	0,4402		0,0,2201	48.0	46.0	47.0		3021,3021	-6.7	0.1	19	dbSNP_134	47	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	RYR1	NM_000540.2,NM_001042723.1	,	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,	1007/5039,1007/5034	38956881	1,12999	2201	4299	6500	43648721	SO:0001819	synonymous_variant	6261	exon24			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.3021C>T	19.37:g.38956881C>T			43648721	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																				0.682	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
MAP4K1	11184	broad.mit.edu	37	19	39086331	39086331	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:39086331G>A	ENST00000591517.1	-	28	2246	c.2218C>T	c.(2218-2220)Cgg>Tgg	p.R740W	CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000589130.1_Missense_Mutation_p.R736W|MAP4K1_ENST00000396857.2_Missense_Mutation_p.R740W|MAP4K1_ENST00000586296.1_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	740	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R740W(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGAAGTCCCCGGACTGGGGAC	0.597																																					p.R740W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2218T	19						.						30.0	33.0	32.0					19																	39086331		1867	4089	5956	43778171	SO:0001583	missense	11184	exon28			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.2218C>T	19.37:g.39086331G>A	ENSP00000465039:p.Arg740Trp		43778171	NM_001042600		Missense_Mutation	SNP	ENST00000591517.1	37	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847963	0.32699	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.07114	3.22	5.01	2.88	0.33553	Citron-like (3);	0.435576	0.21572	N	0.072381	T	0.17152	0.0412	L	0.60455	1.87	0.09310	N	1	D;D	0.65815	0.98;0.995	P;P	0.59889	0.689;0.865	T	0.03651	-1.1016	10	0.87932	D	0	.	6.3049	0.21133	0.0927:0.0:0.726:0.1814	.	740;740	Q92918-2;Q92918	.;M4K1_HUMAN	W	740	ENSP00000380066:R740W	ENSP00000221409:R740W	R	-	1	2	MAP4K1	43778171	0.050000	0.20438	0.001000	0.08648	0.093000	0.18481	0.757000	0.26433	0.716000	0.32124	0.644000	0.83932	CGG		0.597	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600	
HNRNPL	3191	broad.mit.edu	37	19	39331172	39331172	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:39331172C>T	ENST00000221419.5	-	7	1274	c.908G>A	c.(907-909)cGc>cAc	p.R303H	HNRNPL_ENST00000600873.1_Missense_Mutation_p.R170H|AC104534.3_ENST00000594769.1_5'Flank	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	303					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.R170H(1)|p.R303H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CTGCCTCTGGCGTTTGTTGGG	0.622																																					p.R170H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G509A	19						.						24.0	24.0	24.0					19																	39331172		2200	4298	6498	44023012	SO:0001583	missense	3191	exon7			X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.908G>A	19.37:g.39331172C>T	ENSP00000221419:p.Arg303His		44023012	NM_001005335	A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	ENST00000221419.5	37	CCDS33015.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463978	0.84425	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750	.	.	.	5.08	5.08	0.68730	.	0.051883	0.85682	D	0.000000	T	0.55689	0.1936	M	0.64997	1.995	0.80722	D	1	D	0.61080	0.989	B	0.42087	0.375	T	0.59059	-0.7525	9	0.36615	T	0.2	.	15.4935	0.75632	0.0:1.0:0.0:0.0	.	303	P14866	HNRPL_HUMAN	H	303;170;170	.	ENSP00000221419:R303H	R	-	2	0	HNRNPL	44023012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.985000	0.76193	2.647000	0.89833	0.555000	0.69702	CGC		0.622	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1		
TTC9B	148014	broad.mit.edu	37	19	40722134	40722134	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:40722134T>A	ENST00000311308.6	-	3	673	c.656A>T	c.(655-657)aAt>aTt	p.N219I		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	219					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.N219I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						GCTGCAACGATTCATCTTCAG	0.612																																					p.N219I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A656T	19						.						133.0	102.0	112.0					19																	40722134		2203	4300	6503	45413974	SO:0001583	missense	148014	exon3			BC029539	CCDS12550.1	19q13.2	2013-01-11				ENSG00000174521		"""Tetratricopeptide (TTC) repeat domain containing"""	26395	protein-coding gene	gene with protein product							Standard	NM_152479		Approved	FLJ30373	uc002onc.3	Q8N6N2		ENST00000311308.6:c.656A>T	19.37:g.40722134T>A	ENSP00000311760:p.Asn219Ile		45413974	NM_152479	A8K0I5|Q96NP9	Missense_Mutation	SNP	ENST00000311308.6	37	CCDS12550.1	.	.	.	.	.	.	.	.	.	.	t	14.75	2.627245	0.46944	.	.	ENSG00000174521	ENST00000311308	T	0.18338	2.22	4.23	-6.23	0.02052	Tetratricopeptide-like helical (1);	0.207319	0.39985	U	0.001213	T	0.10035	0.0246	L	0.36672	1.1	0.09310	N	0.999998	B	0.19583	0.037	B	0.13407	0.009	T	0.11641	-1.0579	10	0.52906	T	0.07	-4.7485	9.4223	0.38559	0.0:0.5472:0.1232:0.3296	.	219	Q8N6N2	TTC9B_HUMAN	I	219	ENSP00000311760:N219I	ENSP00000311760:N219I	N	-	2	0	TTC9B	45413974	0.919000	0.31177	0.805000	0.32314	0.963000	0.63663	-0.067000	0.11579	-1.037000	0.03283	-0.450000	0.05554	AAT		0.612	TTC9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462604.1	NM_152479	
SHKBP1	92799	broad.mit.edu	37	19	41096990	41096990	+	Missense_Mutation	SNP	C	C	G	rs375997032		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:41096990C>G	ENST00000291842.5	+	18	2050	c.2001C>G	c.(1999-2001)tgC>tgG	p.C667W	LTBP4_ENST00000204005.9_5'Flank|LTBP4_ENST00000545697.1_5'Flank|SHKBP1_ENST00000600733.1_Missense_Mutation_p.C642W	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	667					protein homooligomerization (GO:0051260)			p.C667W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGAACGCTGCCAGGAACTGG	0.701																																					p.C667W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2001G	19						.						36.0	39.0	38.0					19																	41096990		2201	4298	6499	45788830	SO:0001583	missense	92799	exon18			AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.2001C>G	19.37:g.41096990C>G	ENSP00000291842:p.Cys667Trp		45788830	NM_138392	Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216482	0.39201	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.45668	0.89	4.72	1.27	0.21489	.	0.073106	0.53938	D	0.000044	T	0.40322	0.1112	L	0.47716	1.5	0.80722	D	1	P;P;P;P;P	0.47409	0.895;0.8;0.895;0.698;0.832	P;B;P;B;B	0.49301	0.606;0.421;0.606;0.159;0.286	T	0.25916	-1.0118	10	0.66056	D	0.02	-5.4851	7.4474	0.27219	0.0:0.666:0.0:0.334	.	545;447;504;667;667	B4DLI0;B4DUW2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;SHKB1_HUMAN	W	667;447	ENSP00000291842:C667W	ENSP00000291842:C667W	C	+	3	2	SHKBP1	45788830	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	0.298000	0.19120	0.584000	0.29591	-0.258000	0.10820	TGC		0.701	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392	
ADCK4	79934	broad.mit.edu	37	19	41209515	41209515	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:41209515C>A	ENST00000324464.3	-	9	1031	c.730G>T	c.(730-732)Gcc>Tcc	p.A244S	ADCK4_ENST00000450541.1_Missense_Mutation_p.A203S|ADCK4_ENST00000243583.6_Missense_Mutation_p.A203S	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	244	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)	p.A244S(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			ATGCTCTGGGCTATGCCGGGG	0.652																																					p.A244S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G730T	19						.						57.0	59.0	58.0					19																	41209515		2203	4300	6503	45901355	SO:0001583	missense	79934	exon9			AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.730G>T	19.37:g.41209515C>A	ENSP00000315118:p.Ala244Ser		45901355	NM_024876	Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337131	0.81801	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.55413	0.52;0.52;0.52	5.03	5.03	0.67393	ABC-1 (1);Protein kinase-like domain (1);	0.116216	0.64402	D	0.000018	T	0.73984	0.3657	M	0.83223	2.63	0.80722	D	1	D;D	0.71674	0.998;0.969	D;P	0.67382	0.951;0.872	T	0.78226	-0.2286	10	0.59425	D	0.04	-13.7266	17.1441	0.86762	0.0:1.0:0.0:0.0	.	244;203	Q96D53;Q96D53-2	ADCK4_HUMAN;.	S	244;203;203	ENSP00000315118:A244S;ENSP00000412839:A203S;ENSP00000243583:A203S	ENSP00000243583:A203S	A	-	1	0	ADCK4	45901355	1.000000	0.71417	0.936000	0.37596	0.345000	0.29048	7.545000	0.82128	2.330000	0.79161	0.655000	0.94253	GCC		0.652	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876	
CYP2A7	1549	broad.mit.edu	37	19	41384772	41384772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:41384772G>A	ENST00000301146.4	-	5	1265	c.724C>T	c.(724-726)Caa>Taa	p.Q242*	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Nonsense_Mutation_p.Q191*	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	242				Q -> L (in Ref. 2; AAB40520). {ECO:0000305}.		endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.Q242*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCCAGCCCTTGCAGCAACTTA	0.532																																					p.Q242X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C724T	19						.						110.0	87.0	95.0					19																	41384772		2203	4298	6501	46076612	SO:0001587	stop_gained	1549	exon5			NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.724C>T	19.37:g.41384772G>A	ENSP00000301146:p.Gln242*		46076612	NM_000764	Q13121	Nonsense_Mutation	SNP	ENST00000301146.4	37	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	G	37	6.254851	0.97417	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	.	.	.	2.18	1.01	0.19927	.	0.412571	0.26234	N	0.025553	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	8.9316	0.35675	0.0:0.4471:0.5529:0.0	.	.	.	.	X	242;191	.	ENSP00000291764:Q191X	Q	-	1	0	CYP2A7	46076612	0.000000	0.05858	0.003000	0.11579	0.230000	0.25150	-1.938000	0.01546	0.208000	0.20626	0.184000	0.17185	CAA		0.532	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589	
B9D2	80776	broad.mit.edu	37	19	41860774	41860774	+	Missense_Mutation	SNP	C	C	T	rs374581827		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:41860774C>T	ENST00000243578.3	-	4	578	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	CTC-435M10.3_ENST00000604424.1_Intron|TGFB1_ENST00000221930.5_5'Flank|TMEM91_ENST00000539627.1_Intron|TMEM91_ENST00000604123.1_Intron	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	120					cilium assembly (GO:0042384)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)	gamma-tubulin binding (GO:0043015)	p.R120Q(1)		large_intestine(1)|ovary(1)	2						CAACTGTTCTCGCCAACTGCC	0.672																																					p.R120Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G359A	19						.		GLN/ARG	0,4406		0,0,2203	45.0	42.0	43.0		359	4.0	1.0	19		43	2,8596	2.2+/-6.3	0,2,4297	no	missense	B9D2	NM_030578.3	43	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	benign	120/176	41860774	2,13002	2203	4299	6502	46552614	SO:0001583	missense	80776	exon4			BC004157	CCDS12579.1	19q13.2	2014-01-28				ENSG00000123810			28636	protein-coding gene	gene with protein product		611951				21763481	Standard	NM_030578		Approved	MGC4093, MKS10	uc002oqj.2	Q9BPU9		ENST00000243578.3:c.359G>A	19.37:g.41860774C>T	ENSP00000243578:p.Arg120Gln		46552614	NM_030578		Missense_Mutation	SNP	ENST00000243578.3	37	CCDS12579.1	.	.	.	.	.	.	.	.	.	.	c	11.40	1.628764	0.28978	0.0	2.33E-4	ENSG00000123810	ENST00000243578	T	0.70045	-0.45	4.04	4.04	0.47022	.	0.069454	0.64402	D	0.000018	T	0.42131	0.1189	N	0.13198	0.31	0.37788	D	0.927263	B	0.26363	0.147	B	0.12837	0.008	T	0.41270	-0.9518	10	0.28530	T	0.3	.	6.0568	0.19816	0.0:0.7864:0.0:0.2136	.	120	Q9BPU9	B9D2_HUMAN	Q	120	ENSP00000243578:R120Q	ENSP00000243578:R120Q	R	-	2	0	B9D2	46552614	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	3.783000	0.55409	2.081000	0.62600	0.457000	0.33378	CGA		0.672	B9D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463489.1	NM_030578	
MEGF8	1954	broad.mit.edu	37	19	42847725	42847725	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:42847725G>A	ENST00000251268.6	+	9	1610	c.1610G>A	c.(1609-1611)cGt>cAt	p.R537H	MEGF8_ENST00000334370.4_Missense_Mutation_p.R537H	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	537					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.R78H(1)|p.R537H(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGCCGGCCCCGTGGGGACTTG	0.667																																					p.R537H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1610A	19						.						41.0	37.0	38.0					19																	42847725		2203	4300	6503	47539565	SO:0001583	missense	1954	exon9			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1610G>A	19.37:g.42847725G>A	ENSP00000251268:p.Arg537His		47539565	NM_001410	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	G	28.4	4.920127	0.92249	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21191	2.02;2.02	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000003	T	0.36248	0.0960	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.965;0.989	T	0.03008	-1.1083	10	0.37606	T	0.19	-20.0205	16.0318	0.80582	0.0:0.0:1.0:0.0	.	537;537	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	H	537	ENSP00000334219:R537H;ENSP00000251268:R537H	ENSP00000251268:R537H	R	+	2	0	MEGF8	47539565	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	5.341000	0.65964	2.386000	0.81285	0.486000	0.48141	CGT		0.667	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	
MEGF8	1954	broad.mit.edu	37	19	42875612	42875612	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:42875612G>A	ENST00000251268.6	+	41	7247	c.7247G>A	c.(7246-7248)cGt>cAt	p.R2416H	MEGF8_ENST00000378073.4_Intron|MEGF8_ENST00000334370.4_Missense_Mutation_p.R2349H	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2416	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.R2349H(1)|p.R1957H(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCAGTGACCGTCGAGACTGC	0.612																																					p.R2349H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7046A	19						.						78.0	66.0	70.0					19																	42875612		2203	4300	6503	47567452	SO:0001583	missense	1954	exon40			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.7247G>A	19.37:g.42875612G>A	ENSP00000251268:p.Arg2416His		47567452	NM_001410	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	G	22.5	4.299681	0.81136	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.22134	1.97;1.97	4.91	4.91	0.64330	EGF-like, laminin (1);	0.000000	0.64402	D	0.000001	T	0.25531	0.0621	N	0.22421	0.69	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.63113	0.781;0.911	T	0.00956	-1.1501	10	0.44086	T	0.13	-28.0812	8.1771	0.31289	0.1743:0.0:0.8256:0.0	.	2416;2349	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	H	2349;2416	ENSP00000334219:R2349H;ENSP00000251268:R2416H	ENSP00000251268:R2416H	R	+	2	0	MEGF8	47567452	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.901000	0.56303	2.659000	0.90383	0.561000	0.74099	CGT		0.612	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	
CEACAM8	1088	broad.mit.edu	37	19	43093012	43093012	+	Silent	SNP	G	G	A	rs185392969		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:43093012G>A	ENST00000244336.5	-	4	983	c.882C>T	c.(880-882)agC>agT	p.S294S	LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	294	Ig-like C2-type 2.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.S294S(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CATAGGATCCGCTGTTCTTTG	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		16322	0.001		0.0	False		,,,				2504	0.0				p.S294S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C882T	19						.						207.0	187.0	194.0					19																	43093012		2203	4300	6503	47784852	SO:0001819	synonymous_variant	1088	exon4			D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.882C>T	19.37:g.43093012G>A			47784852	NM_001816	O60399|Q16574	Silent	SNP	ENST00000244336.5	37	CCDS12610.1																																																																																				0.512	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1		
PSG8	440533	broad.mit.edu	37	19	43259170	43259170	+	Missense_Mutation	SNP	G	G	A	rs200167716		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:43259170G>A	ENST00000306511.4	-	4	1055	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	PSG8_ENST00000401467.2_Missense_Mutation_p.R227C|PSG8_ENST00000406636.3_Missense_Mutation_p.R198C|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.R320C	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	320	Ig-like C2-type 2.					extracellular region (GO:0005576)		p.R320C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGGTAACTGCGGATGCCACCA	0.483																																					p.R198C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C592T	19						.	G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	185.0	185.0	185.0		958,592,958	-2.0	0.0	19		185	1,8597		0,1,4298	no	missense,missense,missense	PSG8	NM_001130167.1,NM_001130168.1,NM_182707.2	180,180,180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	320/420,198/298,320/427	43259170	1,13003	2203	4299	6502	47951010	SO:0001583	missense	440533	exon3			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.958C>T	19.37:g.43259170G>A	ENSP00000305005:p.Arg320Cys		47951010	NM_001130168	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	4.888	0.164951	0.09287	0.0	1.16E-4	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	1.38	-1.99	0.07457	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.25494	0.0620	M	0.78285	2.405	0.09310	N	1	D;P;B;B;B;B	0.69078	0.997;0.594;0.02;0.005;0.005;0.006	P;B;B;B;B;B	0.61397	0.888;0.284;0.009;0.07;0.005;0.009	T	0.13737	-1.0498	9	0.51188	T	0.08	.	2.0334	0.03534	0.2288:0.0:0.475:0.2962	.	198;227;320;227;320;320	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	C	320;198;227;132;227;320	ENSP00000385869:R320C;ENSP00000385081:R198C;ENSP00000386090:R227C;ENSP00000305005:R320C	ENSP00000305005:R320C	R	-	1	0	PSG8	47951010	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.436000	0.02421	-0.117000	0.11872	-1.261000	0.01458	CGC		0.483	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1		
ZNF428	126299	broad.mit.edu	37	19	44111920	44111920	+	Missense_Mutation	SNP	G	G	A	rs568095447		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:44111920G>A	ENST00000300811.3	-	3	862	c.416C>T	c.(415-417)cCt>cTt	p.P139L	SRRM5_ENST00000607544.1_Intron|SRRM5_ENST00000526798.1_Intron	NM_182498.3	NP_872304.2	Q96B54	ZN428_HUMAN	zinc finger protein 428	139	Glu-rich.						metal ion binding (GO:0046872)	p.P139L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				CCCAGCCCGAGGTGGTTCCTC	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		12334	0.0		0.001	False		,,,				2504	0.0				p.P139L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C416T	19						.						33.0	24.0	27.0					19																	44111920		2203	4300	6503	48803760	SO:0001583	missense	126299	exon3			AY257197	CCDS12626.1	19q13.31	2008-05-02	2006-07-04	2006-07-04				"""Zinc fingers, C2H2-type"""	20804	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 37"""	C19orf37			Standard	NM_182498		Approved	MGC51082, Zfp428	uc002oxa.3	Q96B54		ENST00000300811.3:c.416C>T	19.37:g.44111920G>A	ENSP00000300811:p.Pro139Leu		48803760	NM_182498	O95054|Q6X3Y3	Missense_Mutation	SNP	ENST00000300811.3	37	CCDS12626.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989026	0.53934	.	.	ENSG00000131116	ENST00000300811	.	.	.	4.52	2.22	0.28083	.	.	.	.	.	T	0.16599	0.0399	N	0.08118	0	0.27564	N	0.950106	B	0.10296	0.003	B	0.06405	0.002	T	0.14008	-1.0488	8	0.66056	D	0.02	.	2.5052	0.04643	0.1054:0.1752:0.5118:0.2077	.	139	Q96B54	ZN428_HUMAN	L	139	.	ENSP00000300811:P139L	P	-	2	0	ZNF428	48803760	1.000000	0.71417	0.954000	0.39281	0.928000	0.56348	4.465000	0.60141	1.116000	0.41820	-0.502000	0.04539	CCT		0.672	ZNF428-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463349.1	NM_182498	
PLAUR	5329	broad.mit.edu	37	19	44150698	44150698	+	IGR	SNP	G	G	A	rs377422818		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:44150698G>A	ENST00000340093.3	-	0	1548				PLAUR_ENST00000339082.3_Missense_Mutation_p.R253C	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor						attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)	p.R253C(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	cagagtgagcgttctaagatt	0.438																																					p.R253C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C757T	19						.	G	CYS/ARG	0,2654		0,0,1327	67.0	57.0	60.0		757	-0.5	0.0	19		60	1,4617		0,1,2308	no	missense	PLAUR	NM_001005376.2	180	0,1,3635	AA,AG,GG		0.0217,0.0,0.0138		253/282	44150698	1,7271	1327	2309	3636	48842538	SO:0001628	intergenic_variant	5329	exon7				CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"""CD molecules"""	9053	protein-coding gene	gene with protein product	"""urokinase-type plasminogen activator (uPA) receptor"", ""urokinase plasminogen activator surface receptor"""	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405			19.37:g.44150698G>A			48842538	NM_001005376	A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	Missense_Mutation	SNP	ENST00000340093.3	37	CCDS12628.1	.	.	.	.	.	.	.	.	.	.	G	6.579	0.475145	0.12521	0.0	2.17E-4	ENSG00000011422	ENST00000339082	T	0.30981	1.51	0.638	-0.53	0.11898	.	.	.	.	.	T	0.17280	0.0415	.	.	.	0.09310	N	0.999999	D	0.58620	0.983	B	0.36186	0.219	T	0.15896	-1.0421	7	0.72032	D	0.01	.	.	.	.	.	253	Q03405-2	.	C	253	ENSP00000342049:R253C	ENSP00000342049:R253C	R	-	1	0	PLAUR	48842538	0.583000	0.26757	0.008000	0.14137	0.054000	0.15201	-0.075000	0.11431	-0.268000	0.09312	0.313000	0.20887	CGC		0.438	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1	NM_002659	
ZNF284	342909	broad.mit.edu	37	19	44590674	44590674	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:44590674G>A	ENST00000421176.3	+	5	1259	c.1043G>A	c.(1042-1044)tGt>tAt	p.C348Y	ZNF223_ENST00000591793.1_3'UTR|RNU6-902P_ENST00000517212.1_RNA	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	348					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.C348Y(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				TGTGAAGAATGTGGAAGGAGC	0.393																																					p.C348Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1043A	19						.						75.0	78.0	77.0					19																	44590674		2101	4254	6355	49282514	SO:0001583	missense	342909	exon5			AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.1043G>A	19.37:g.44590674G>A	ENSP00000411032:p.Cys348Tyr		49282514	NM_001037813	Q86WM1	Missense_Mutation	SNP	ENST00000421176.3	37	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458651	0.43634	.	.	ENSG00000186026	ENST00000421176	D	0.85861	-2.04	2.72	2.72	0.32119	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.87736	0.6252	M	0.91818	3.245	0.38233	D	0.941082	P	0.40197	0.706	B	0.39617	0.305	D	0.91348	0.5102	9	0.87932	D	0	.	12.5692	0.56326	0.0:0.0:1.0:0.0	.	348	Q2VY69	ZN284_HUMAN	Y	348	ENSP00000411032:C348Y	ENSP00000411032:C348Y	C	+	2	0	ZNF284	49282514	1.000000	0.71417	0.965000	0.40720	0.210000	0.24377	6.574000	0.74014	1.503000	0.48686	0.561000	0.74099	TGT		0.393	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813	
HIF3A	64344	broad.mit.edu	37	19	46815431	46815431	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:46815431G>A	ENST00000377670.4	+	7	815	c.784G>A	c.(784-786)Gct>Act	p.A262T	HIF3A_ENST00000244303.6_Missense_Mutation_p.A193T|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000600383.1_Missense_Mutation_p.A193T|HIF3A_ENST00000420102.2_Missense_Mutation_p.A211T|HIF3A_ENST00000300862.3_Missense_Mutation_p.A260T|HIF3A_ENST00000472815.1_Missense_Mutation_p.A193T|HIF3A_ENST00000339613.2_Missense_Mutation_p.A206T	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	262	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.A260T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TGCAGAAGTGGCTGGCTATAG	0.592																																					p.A262T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G784A	19						.						157.0	147.0	150.0					19																	46815431		2203	4300	6503	51507271	SO:0001583	missense	64344	exon7			AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.784G>A	19.37:g.46815431G>A	ENSP00000366898:p.Ala262Thr		51507271	NM_152795	B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	CCDS12681.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.18|12.18	1.859438|1.859438	0.32884|0.32884	.|.	.|.	ENSG00000124440|ENSG00000124440	ENST00000475432;ENST00000244302;ENST00000377670;ENST00000457865;ENST00000414707;ENST00000244303;ENST00000339613;ENST00000457771;ENST00000291300;ENST00000300862;ENST00000420102|ENST00000472815	T;T;T;T;T|.	0.15718|.	2.4;2.4;2.4;2.4;2.4|.	4.3|4.3	4.3|4.3	0.51218|0.51218	PAS fold-3 (1);PAS (3);|.	0.000000|.	0.39615|.	N|.	0.001302|.	T|T	0.15652|0.15652	0.0377|0.0377	N|N	0.01424|0.01424	-0.875|-0.875	0.19300|0.19300	N|N	0.999975|0.999975	B;D;D;D;D;D;D;P|.	0.71674|.	0.229;0.993;0.98;0.998;0.964;0.984;0.993;0.845|.	B;D;P;D;P;P;P;P|.	0.65684|.	0.113;0.914;0.718;0.937;0.76;0.815;0.877;0.608|.	T|T	0.08953|0.08953	-1.0697|-1.0697	10|5	0.72032|.	D|.	0.01|.	.|.	14.6642|14.6642	0.68896|0.68896	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	211;193;260;211;206;262;262;262|.	F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185;E7EWV6|.	.;.;.;.;.;HIF3A_HUMAN;.;.|.	T|D	262;262;262;170;262;193;206;193;206;260;211|234	ENSP00000366898:A262T;ENSP00000244303:A193T;ENSP00000341877:A206T;ENSP00000300862:A260T;ENSP00000407771:A211T|.	ENSP00000244302:A262T|.	A|G	+|+	1|2	0|0	HIF3A|HIF3A	51507271|51507271	0.597000|0.597000	0.26874|0.26874	0.135000|0.135000	0.22099|0.22099	0.318000|0.318000	0.28184|0.28184	1.595000|1.595000	0.36708|0.36708	2.390000|2.390000	0.81377|0.81377	0.591000|0.591000	0.81541|0.81541	GCT|GGC		0.592	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3		
LIG1	3978	broad.mit.edu	37	19	48638958	48638958	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:48638958A>G	ENST00000263274.7	-	16	1921	c.1502T>C	c.(1501-1503)aTg>aCg	p.M501T	LIG1_ENST00000536218.1_Missense_Mutation_p.M433T|LIG1_ENST00000427526.2_Missense_Mutation_p.M470T	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	501					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.M501T(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CTTCAGGATCATGCCTTGCTC	0.607								Nucleotide excision repair (NER)																													p.M501T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1502C	19						.						213.0	169.0	184.0					19																	48638958		2203	4300	6503	53330770	SO:0001583	missense	3978	exon16				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1502T>C	19.37:g.48638958A>G	ENSP00000263274:p.Met501Thr		53330770	NM_000234	B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.569894	0.28003	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218	T;T;T	0.18338	2.22;2.22;2.22	5.1	5.1	0.69264	DNA ligase, ATP-dependent, N-terminal (2);	0.246012	0.41712	D	0.000826	T	0.10078	0.0247	N	0.11427	0.14	0.80722	D	1	B;B;B	0.24533	0.001;0.105;0.003	B;B;B	0.29077	0.0;0.098;0.001	T	0.25047	-1.0143	10	0.14656	T	0.56	-31.1109	13.1425	0.59442	1.0:0.0:0.0:0.0	.	470;433;501	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	T	501;532;470;433	ENSP00000263274:M501T;ENSP00000442841:M470T;ENSP00000441531:M433T	ENSP00000263274:M501T	M	-	2	0	LIG1	53330770	1.000000	0.71417	0.997000	0.53966	0.531000	0.34715	4.282000	0.58971	2.031000	0.59945	0.533000	0.62120	ATG		0.607	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234	
IZUMO1	284359	broad.mit.edu	37	19	49246726	49246726	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:49246726A>G	ENST00000332955.2	-	6	1022	c.475T>C	c.(475-477)Tgt>Cgt	p.C159R	RASIP1_ENST00000222145.4_5'Flank	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	159					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.C159R(1)		endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GACTTTCGACAAGCGTGAACC	0.562																																					p.C159R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T475C	19						.						119.0	88.0	99.0					19																	49246726		2203	4300	6503	53938538	SO:0001583	missense	284359	exon6			BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"""-"""	28539	protein-coding gene	gene with protein product	"""oocyte binding/fusion factor"""	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.475T>C	19.37:g.49246726A>G	ENSP00000327786:p.Cys159Arg		53938538	NM_182575	Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	ENST00000332955.2	37	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	A	17.36	3.369951	0.61624	.	.	ENSG00000182264	ENST00000332955	T	0.63096	-0.02	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000002	T	0.73923	0.3649	L	0.58101	1.795	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.76332	-0.2998	10	0.87932	D	0	-24.3538	11.1487	0.48444	1.0:0.0:0.0:0.0	.	159	Q8IYV9	IZUM1_HUMAN	R	159	ENSP00000327786:C159R	ENSP00000327786:C159R	C	-	1	0	IZUMO1	53938538	0.756000	0.28383	0.419000	0.26584	0.120000	0.20174	4.007000	0.57093	2.215000	0.71742	0.459000	0.35465	TGT		0.562	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	NM_182575	
NR1H2	7376	broad.mit.edu	37	19	50881012	50881012	+	Silent	SNP	C	C	T	rs544840857		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:50881012C>T	ENST00000253727.5	+	4	301	c.66C>T	c.(64-66)ggC>ggT	p.G22G	NR1H2_ENST00000411902.2_Silent_p.G22G|NR1H2_ENST00000599105.1_Silent_p.G22G|NR1H2_ENST00000598168.1_Silent_p.G22G|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000593926.1_Silent_p.G22G	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	22					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|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 positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.G22G(1)		endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CTCAGCCTGGCGCCCCTTCTT	0.632																																					p.G22G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C66T	19						.						49.0	52.0	51.0					19																	50881012		1881	4108	5989	55572824	SO:0001819	synonymous_variant	7376	exon4			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.66C>T	19.37:g.50881012C>T			55572824	NM_007121	A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Silent	SNP	ENST00000253727.5	37	CCDS42593.1																																																																																				0.632	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2		
SHANK1	50944	broad.mit.edu	37	19	51170511	51170511	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:51170511G>A	ENST00000293441.1	-	22	4724	c.4706C>T	c.(4705-4707)cCg>cTg	p.P1569L	SHANK1_ENST00000391813.1_Missense_Mutation_p.P956L|SHANK1_ENST00000391814.1_Missense_Mutation_p.P1577L|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.P1560L	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1569					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.P1569L(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TTCCAGAGGCGGAGGCAGCGG	0.662																																					p.P1569L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4706T	19						.						26.0	24.0	25.0					19																	51170511		2202	4297	6499	55862323	SO:0001583	missense	50944	exon22			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.4706C>T	19.37:g.51170511G>A	ENSP00000293441:p.Pro1569Leu		55862323	NM_016148	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	9.686	1.150563	0.21371	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	2.01	2.01	0.26516	.	0.000000	0.64402	U	0.000002	T	0.63885	0.2549	M	0.72479	2.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.67764	-0.5586	10	0.87932	D	0	.	11.0388	0.47818	0.0:0.0:1.0:0.0	.	1569;956	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	L	1569;956;1560;1577	ENSP00000293441:P1569L;ENSP00000375689:P956L;ENSP00000351984:P1560L;ENSP00000375690:P1577L	ENSP00000293441:P1569L	P	-	2	0	SHANK1	55862323	1.000000	0.71417	0.997000	0.53966	0.659000	0.38960	7.736000	0.84948	1.141000	0.42275	0.205000	0.17691	CCG		0.662	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	
ZNF320	162967	broad.mit.edu	37	19	53393494	53393494	+	Splice_Site	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:53393494C>T	ENST00000595635.1	-	6	516	c.15G>A	c.(13-15)caG>caA	p.Q5Q	ZNF320_ENST00000597909.1_Splice_Site_p.Q5Q|ZNF320_ENST00000391781.2_Splice_Site_p.Q5Q|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	5					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.Q5Q(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		ATCATCTCACCTGAGAAAGAG	0.463																																					p.Q5Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G15A	19						.						144.0	125.0	132.0					19																	53393494		1511	2709	4220	58085306	SO:0001630	splice_region_variant	162967	exon2			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.15+1G>A	19.37:g.53393494C>T			58085306	NM_207333	Q8NDR6	Silent	SNP	ENST00000595635.1	37	CCDS33095.1																																																																																				0.463	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333	Silent
VN1R2	317701	broad.mit.edu	37	19	53761683	53761683	+	Missense_Mutation	SNP	G	G	A	rs201135902		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:53761683G>A	ENST00000341702.3	+	1	139	c.55G>A	c.(55-57)Gca>Aca	p.A19T		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	19					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.A19T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		aaatatcagcgcagcctggca	0.512																																					p.A19T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G55A	19						.	-	THR/ALA	2,3482		0,2,1740	9.0	9.0	9.0		55		0.4	19		9	7,6383		0,7,3188	no	missense	VN1R2	NM_173856.2	58	0,9,4928	AA,AG,GG		0.1095,0.0574,0.0911	possibly-damaging	19/396	53761683	9,9865	1742	3195	4937	58453495	SO:0001583	missense	317701	exon1			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.55G>A	19.37:g.53761683G>A	ENSP00000351244:p.Ala19Thr		58453495	NM_173856	A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	-	5.542	0.284973	0.10513	5.74E-4	0.001095	ENSG00000196131	ENST00000341702	T	0.11277	2.79	.	.	.	.	.	.	.	.	T	0.06371	0.0164	N	0.08118	0	0.09310	N	1	D	0.53312	0.959	P	0.45971	0.499	T	0.32508	-0.9904	7	0.87932	D	0	.	.	.	.	.	19	Q8NFZ6	VN1R2_HUMAN	T	19	ENSP00000351244:A19T	ENSP00000351244:A19T	A	+	1	0	VN1R2	58453495	0.057000	0.20700	0.357000	0.25798	0.358000	0.29455	0.000000	0.12993	0.107000	0.17824	0.109000	0.15622	GCA		0.512	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856	
CNOT3	4849	broad.mit.edu	37	19	54656002	54656002	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:54656002C>T	ENST00000406403.1	+	13	3248	c.1645C>T	c.(1645-1647)Cgg>Tgg	p.R549W	CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000358389.3_Missense_Mutation_p.R368W|CNOT3_ENST00000221232.5_Missense_Mutation_p.R549W			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	549	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.R549W(1)|p.R368W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CATGGCGGAACGGGCAGCCAT	0.637																																					p.R549W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1645T	19						.						57.0	55.0	56.0					19																	54656002		2203	4300	6503	59347814	SO:0001583	missense	4849	exon14			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1645C>T	19.37:g.54656002C>T	ENSP00000383954:p.Arg549Trp		59347814	NM_014516	Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.77|18.77	3.694926|3.694926	0.68386|0.68386	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403|ENST00000457463	T;T|.	0.47528|.	0.84;0.84|.	4.59|4.59	3.53|3.53	0.40419|0.40419	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.61800|0.61800	0.2376|0.2376	L|L	0.60455|0.60455	1.87|1.87	0.40404|0.40404	D|D	0.979674|0.979674	D;D;D;D|.	0.89917|.	1.0;0.987;1.0;1.0|.	D;P;D;D|.	0.69654|.	0.965;0.629;0.948;0.965|.	T|T	0.60419|0.60419	-0.7267|-0.7267	10|5	0.72032|.	D|.	0.01|.	-17.0089|-17.0089	10.8267|10.8267	0.46635|0.46635	0.4697:0.5303:0.0:0.0|0.4697:0.5303:0.0:0.0	.|.	549;368;549;473|.	B7Z6J7;O75175-3;O75175;Q6ZMJ6|.	.;.;CNOT3_HUMAN;.|.	W|M	549;368;549|80	ENSP00000221232:R549W;ENSP00000383954:R549W|.	ENSP00000221232:R549W|.	R|T	+|+	1|2	2|0	CNOT3|CNOT3	59347814|59347814	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.996000|0.996000	0.88848|0.88848	0.611000|0.611000	0.24268|0.24268	1.008000|1.008000	0.39264|0.39264	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.637	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516	
PTPRH	5794	broad.mit.edu	37	19	55715404	55715404	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:55715404A>G	ENST00000376350.3	-	5	654	c.632T>C	c.(631-633)gTg>gCg	p.V211A	PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	211	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V211A(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CAGGTTCCTCACTGGGTTGTG	0.507																																					p.V211A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T632C	19						.						59.0	53.0	55.0					19																	55715404		2203	4300	6503	60407216	SO:0001583	missense	5794	exon5				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.632T>C	19.37:g.55715404A>G	ENSP00000365528:p.Val211Ala		60407216	NM_002842	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.306207	0.40795	.	.	ENSG00000080031	ENST00000376350	T	0.05649	3.41	3.59	3.59	0.41128	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.308092	0.17883	N	0.158786	T	0.16300	0.0392	M	0.82056	2.57	0.30614	N	0.75922	D	0.53745	0.962	P	0.61070	0.883	T	0.03306	-1.1050	10	0.02654	T	1	.	9.119	0.36775	1.0:0.0:0.0:0.0	.	211	Q9HD43	PTPRH_HUMAN	A	211	ENSP00000365528:V211A	ENSP00000365528:V211A	V	-	2	0	PTPRH	60407216	0.055000	0.20627	0.006000	0.13384	0.255000	0.26057	3.635000	0.54309	1.580000	0.49851	0.413000	0.27773	GTG		0.507	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1		
ZNF470	388566	broad.mit.edu	37	19	57089371	57089371	+	Missense_Mutation	SNP	C	C	T	rs370650023		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:57089371C>T	ENST00000330619.8	+	6	2260	c.1574C>T	c.(1573-1575)gCg>gTg	p.A525V	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.A525V	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	525					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.A525V(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GCACACCTCGCGCAACATCAG	0.453																																					p.A525V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1574T	19						.						68.0	67.0	67.0					19																	57089371		2203	4300	6503	61781183	SO:0001583	missense	388566	exon6			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1574C>T	19.37:g.57089371C>T	ENSP00000333223:p.Ala525Val		61781183	NM_001001668	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.884101	0.33255	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.08282	3.11;3.11	4.37	-1.99	0.07457	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03053	0.0090	N	0.04655	-0.195	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.44236	-0.9341	9	0.30854	T	0.27	.	3.6376	0.08155	0.2811:0.2531:0.0:0.4658	.	525	Q6ECI4	ZN470_HUMAN	V	525	ENSP00000375590:A525V;ENSP00000333223:A525V	ENSP00000333223:A525V	A	+	2	0	ZNF470	61781183	0.000000	0.05858	0.229000	0.23960	0.806000	0.45545	-1.175000	0.03102	0.094000	0.17404	-0.312000	0.09012	GCG		0.453	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668	
ZNF71	58491	broad.mit.edu	37	19	57132875	57132875	+	Missense_Mutation	SNP	G	G	A	rs141566979		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:57132875G>A	ENST00000328070.6	+	3	454	c.220G>A	c.(220-222)Gca>Aca	p.A74T		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	74					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.A74T(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTCAGTACCCGCATGTCATGA	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		17439	0.0		0.0	False		,,,				2504	0.001				p.A74T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G220A	19						.	G	THR/ALA	0,4406		0,0,2203	56.0	54.0	54.0		220	-2.2	0.0	19	dbSNP_134	54	6,8594	5.7+/-21.5	0,6,4294	no	missense	ZNF71	NM_021216.4	58	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	benign	74/490	57132875	6,13000	2203	4300	6503	61824687	SO:0001583	missense	58491	exon3			X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.220G>A	19.37:g.57132875G>A	ENSP00000328245:p.Ala74Thr		61824687	NM_021216	Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	G	8.747	0.920354	0.17982	0.0	6.98E-4	ENSG00000197951	ENST00000328070	T	0.07216	3.21	2.91	-2.25	0.06888	.	.	.	.	.	T	0.03827	0.0108	N	0.13043	0.29	0.09310	N	1	B	0.23249	0.082	B	0.09377	0.004	T	0.40040	-0.9584	9	0.59425	D	0.04	.	2.112	0.03705	0.1207:0.3706:0.3197:0.1889	.	74	Q9NQZ8	ZNF71_HUMAN	T	74	ENSP00000328245:A74T	ENSP00000328245:A74T	A	+	1	0	ZNF71	61824687	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.292000	0.01146	-0.331000	0.08501	-0.218000	0.12543	GCA		0.617	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216	
PEG3	5178	broad.mit.edu	37	19	57326142	57326142	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:57326142G>A	ENST00000326441.9	-	10	4031	c.3668C>T	c.(3667-3669)tCg>tTg	p.S1223L	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.S1223L|PEG3_ENST00000593695.1_Missense_Mutation_p.S1097L|PEG3_ENST00000598410.1_Missense_Mutation_p.S1099L|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1223					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S1223L(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCGAATGGCCGACCCAGCAAG	0.488																																					p.S1223L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3668T	19						.						90.0	86.0	88.0					19																	57326142		2203	4300	6503	62017954	SO:0001583	missense	5178	exon7			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3668C>T	19.37:g.57326142G>A	ENSP00000326581:p.Ser1223Leu		62017954	NM_001146186	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068622	0.36470	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02682	4.2;4.2	4.06	-2.47	0.06442	.	1.504970	0.04153	N	0.321738	T	0.02012	0.0063	N	0.19112	0.55	.	.	.	B;B;B	0.18968	0.002;0.032;0.008	B;B;B	0.06405	0.001;0.001;0.002	T	0.46721	-0.9171	9	0.45353	T	0.12	0.1451	1.2513	0.01983	0.4246:0.1898:0.2469:0.1387	.	1099;1223;1158	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	L	1223	ENSP00000326581:S1223L;ENSP00000403051:S1223L	ENSP00000326581:S1223L	S	-	2	0	ZIM2	62017954	0.000000	0.05858	0.000000	0.03702	0.975000	0.68041	-0.258000	0.08733	-0.294000	0.08973	0.655000	0.94253	TCG		0.488	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
PEG3	5178	broad.mit.edu	37	19	57327346	57327346	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:57327346C>A	ENST00000326441.9	-	10	2827	c.2464G>T	c.(2464-2466)Ggg>Tgg	p.G822W	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G822W|PEG3_ENST00000593695.1_Missense_Mutation_p.G696W|PEG3_ENST00000598410.1_Missense_Mutation_p.G698W|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	822					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G822W(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAGGTGTTCCCTCCAGCACGA	0.458																																					p.G822W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2464T	19						.						126.0	119.0	121.0					19																	57327346		2203	4300	6503	62019158	SO:0001583	missense	5178	exon7			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2464G>T	19.37:g.57327346C>A	ENSP00000326581:p.Gly822Trp		62019158	NM_001146186	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.186770	0.57909	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02812	4.15;4.15	4.08	3.03	0.35002	.	0.567842	0.16058	N	0.231602	T	0.10423	0.0255	L	0.54323	1.7	.	.	.	P;D;D	0.76494	0.934;0.997;0.999	P;P;D	0.68353	0.529;0.887;0.957	T	0.13818	-1.0495	9	0.87932	D	0	-4.4628	12.1472	0.54029	0.0:0.8255:0.1745:0.0	.	698;822;757	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	W	822	ENSP00000326581:G822W;ENSP00000403051:G822W	ENSP00000326581:G822W	G	-	1	0	ZIM2	62019158	0.032000	0.19561	0.005000	0.12908	0.028000	0.11728	2.843000	0.48238	1.294000	0.44707	0.585000	0.79938	GGG		0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
ARHGEF18	23370	broad.mit.edu	37	19	7516152	7516152	+	Splice_Site	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:7516152G>T	ENST00000359920.6	+	6	1544	c.1291G>T	c.(1291-1293)Gct>Tct	p.A431S	ARHGEF18_ENST00000319670.9_Splice_Site_p.A273S|CTD-2207O23.3_ENST00000593531.1_Splice_Site_p.K388N	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	431	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A273S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GAACACGGAAGGTAGGCCTTC	0.582																																					p.A273S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G817T	19						.						82.0	56.0	65.0					19																	7516152		2203	4300	6503	7422152	SO:0001630	splice_region_variant	23370	exon7			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1291+1G>T	19.37:g.7516152G>T			7422152	NM_015318	A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780096	0.90195	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.61742	0.08;0.08	4.68	4.68	0.58851	Dbl homology (DH) domain (5);	0.233261	0.29876	N	0.010979	T	0.56587	0.1995	L	0.39397	1.21	0.58432	D	0.999998	P;P	0.43885	0.82;0.702	B;P	0.47376	0.431;0.545	T	0.55964	-0.8057	10	0.38643	T	0.18	-0.7501	15.1673	0.72840	0.0:0.0:1.0:0.0	.	273;431	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	S	273;431	ENSP00000319200:A273S;ENSP00000352995:A431S	ENSP00000319200:A273S	A	+	1	0	ARHGEF18	7422152	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	9.595000	0.98260	2.442000	0.82660	0.645000	0.84053	GCT		0.582	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318	Missense_Mutation
MYO1F	4542	broad.mit.edu	37	19	8601852	8601852	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:8601852G>A	ENST00000338257.8	-	17	2047	c.1780C>T	c.(1780-1782)Cga>Tga	p.R594*		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	594	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R594*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCCCAGTCTCGGGGCCTCTTG	0.577																																					p.R594X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1780T	19						.						65.0	70.0	68.0					19																	8601852		2081	4234	6315	8507852	SO:0001587	stop_gained	4542	exon17			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1780C>T	19.37:g.8601852G>A	ENSP00000344871:p.Arg594*		8507852	NM_012335	Q8WWN7	Nonsense_Mutation	SNP	ENST00000338257.8	37	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	G	39	7.624867	0.98396	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	.	.	.	4.45	4.45	0.53987	.	0.487762	0.20057	N	0.100168	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	11.5658	0.50805	0.0:0.0:0.8217:0.1783	.	.	.	.	X	639;594	.	ENSP00000304899:R639X	R	-	1	2	MYO1F	8507852	0.258000	0.24033	0.983000	0.44433	0.951000	0.60555	2.993000	0.49425	2.327000	0.79052	0.579000	0.79373	CGA		0.577	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2		
MUC16	94025	broad.mit.edu	37	19	9085800	9085800	+	Silent	SNP	G	G	T	rs372228618		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:9085800G>T	ENST00000397910.4	-	1	6218	c.6015C>A	c.(6013-6015)gtC>gtA	p.V2005V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2005	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V2005V(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCACAGAGTTGACATATGGAG	0.463																																					p.V2005V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C6015A	19						.						121.0	117.0	118.0					19																	9085800		1985	4165	6150	8946800	SO:0001819	synonymous_variant	94025	exon1			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6015C>A	19.37:g.9085800G>T			8946800	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
OLFM2	93145	broad.mit.edu	37	19	9965018	9965018	+	Silent	SNP	G	G	A	rs549029152		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:9965018G>A	ENST00000264833.4	-	6	1394	c.1209C>T	c.(1207-1209)taC>taT	p.Y403Y	OLFM2_ENST00000590841.1_Silent_p.Y325Y|AC008752.3_ENST00000582439.1_RNA	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	403	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)		p.Y403Y(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CCGTGTACTCGTAACTGGACG	0.577													G|||	0	0.0	0.0	0.0	5008	,	,		18731	0.0		0.0	False		,,,				2504	0.0				p.Y403Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1209T	19						.						136.0	119.0	125.0					19																	9965018		2203	4300	6503	9826018	SO:0001819	synonymous_variant	93145	exon6			AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.1209C>T	19.37:g.9965018G>A			9826018	NM_058164	Q6IMJ3|Q96FC2	Silent	SNP	ENST00000264833.4	37	CCDS12221.1																																																																																				0.577	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1		
C3P1	388503	broad.mit.edu	37	19	10157501	10157501	+	RNA	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:10157501C>T	ENST00000495140.1	+	0	1100							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)	p.P19S(1)		endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						GTTCACTCTGCCAAAGAGTAA	0.532																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	19						.						83.0	87.0	86.0					19																	10157501		1986	4174	6160	10018501			388503	.			AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10157501C>T			10018501	.		Missense_Mutation	SNP	ENST00000495140.1	37																																																																																					0.532	C3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000351284.1	NR_027300	
PKN1	5585	broad.mit.edu	37	19	14581408	14581410	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	GAG	GAG	GAG	-	GAG	GAG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:14581408_14581410delGAG	ENST00000242783.6	+	20	2623_2625	c.2458_2460delGAG	c.(2458-2460)gagdel	p.E822del	PKN1_ENST00000342216.4_In_Frame_Del_p.E828del	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	822	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.E820delE(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						AGGGGATGATGAGGAGGAGGTCT	0.66																																					p.826_826del	NSCLC(185;2539 2965 10733 52867)											.	.	1	Deletion - In frame(1)	large_intestine(1)	c.2476_2478del	19						.																																			14442410	SO:0001651	inframe_deletion	5585	exon20			S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2458_2460delGAG	19.37:g.14581414_14581416delGAG	ENSP00000242783:p.Glu822del		14442408	NM_213560	A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	In_Frame_Del	DEL	ENST00000242783.6	37	CCDS42513.1																																																																																				0.660	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560	
ARHGAP33	115703	broad.mit.edu	37	19	36278635	36278635	+	Frame_Shift_Del	DEL	C	C	-	rs550232739		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:36278635delC	ENST00000007510.4	+	21	3312	c.3168delC	c.(3166-3168)ggcfs	p.G1056fs	ARHGAP33_ENST00000314737.5_Frame_Shift_Del_p.G895fs|ARHGAP33_ENST00000378944.5_Frame_Shift_Del_p.G892fs|AC002398.5_ENST00000433059.1_lincRNA			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1056					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)	p.P897fs*115(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						ACCCCCTGGGCCCCCCATCCT	0.667																																					p.G895fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2685delC	19						.						19.0	24.0	22.0					19																	36278635		2193	4284	6477	40970475	SO:0001589	frameshift_variant	115703	exon21			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3168delC	19.37:g.36278635delC	ENSP00000007510:p.Gly1056fs		40970475	NM_052948	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Frame_Shift_Del	DEL	ENST00000007510.4	37																																																																																					0.667	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948	
KIR3DX1	90011	broad.mit.edu	37	19	55047027	55047027	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:55047027G>T	ENST00000335056.3	+	4	610	c.572G>T	c.(571-573)gGa>gTa	p.G191V	KIR3DX1_ENST00000482404.1_3'UTR			Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	191						extracellular region (GO:0005576)		p.G191V(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GCCCATGCAGGAGCCTACAGA	0.572																																					.	Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)											.	.	1	Substitution - Missense(1)	large_intestine(1)	.	19						.						72.0	76.0	74.0					19																	55047027		2172	4283	6455	59738839	SO:0001583	missense	90011	.			BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.572G>T	19.37:g.55047027G>T	ENSP00000335388:p.Gly191Val		59738839	.	B7WNL0|Q8N0S4	Missense_Mutation	SNP	ENST00000335056.3	37		.	.	.	.	.	.	.	.	.	.	G	12.12	1.841358	0.32513	.	.	ENSG00000104970	ENST00000335056	T	0.01613	4.73	2.41	1.37	0.22104	.	0.000000	0.31495	U	0.007551	T	0.02455	0.0075	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37686	-0.9695	7	0.87932	D	0	.	4.9912	0.14214	0.1748:0.0:0.8252:0.0	.	.	.	.	V	191	ENSP00000335388:G191V	ENSP00000221567:G191V	G	+	2	0	KIR3DX1	59738839	0.020000	0.18652	0.001000	0.08648	0.045000	0.14185	1.119000	0.31258	0.602000	0.29896	0.655000	0.94253	GGA		0.572	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000140800.2	NR_026716	
ZNF416	55659	broad.mit.edu	37	19	58083614	58083614	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr19:58083614C>T	ENST00000196489.3	-	4	1880	c.1658G>A	c.(1657-1659)gGc>gAc	p.G553D		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	553					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G553D(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CCCACATTTGCCACACTCATA	0.493																																					p.G553D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1658A	19						.						168.0	158.0	161.0					19																	58083614		2203	4300	6503	62775426	SO:0001583	missense	55659	exon4			BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.1658G>A	19.37:g.58083614C>T	ENSP00000196489:p.Gly553Asp		62775426	NM_017879	Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662427	0.47572	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	T	0.16196	2.36	3.45	-1.24	0.09435	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04182	0.0116	N	0.01284	-0.91	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.38222	-0.9671	9	0.29301	T	0.29	.	0.6329	0.00797	0.176:0.2573:0.1727:0.3939	.	553	Q9BWM5	ZN416_HUMAN	D	553;456;451	ENSP00000196489:G553D	ENSP00000196489:G553D	G	-	2	0	ZNF416	62775426	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-1.265000	0.02844	-0.019000	0.14055	0.561000	0.74099	GGC		0.493	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879	
SLC35A3	23443	broad.mit.edu	37	1	100464874	100464874	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:100464874T>C	ENST00000370155.3	+	3	637	c.245T>C	c.(244-246)aTg>aCg	p.M82T	SLC35A3_ENST00000465289.1_Missense_Mutation_p.M82T|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000427993.2_Missense_Mutation_p.M82T|RNU6-1318P_ENST00000365389.1_RNA|SLC35A3_ENST00000370153.1_Missense_Mutation_p.M124T	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	82					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)	p.M82T(1)		biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		AATAAACCTATGGAAACACTT	0.318																																					p.M82T	Ovarian(7;298 356 944 2149 6911)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T245C	1						.						73.0	77.0	75.0					1																	100464874		2202	4283	6485	100237462	SO:0001583	missense	23443	exon3			AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"""Solute carriers"""	11023	protein-coding gene	gene with protein product		605632	"""solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"""			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.245T>C	1.37:g.100464874T>C	ENSP00000359174:p.Met82Thr		100237462	NM_012243	A8K3F8|D3DT54|Q68CR2|Q9BSB7	Missense_Mutation	SNP	ENST00000370155.3	37	CCDS762.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.704680	0.30232	.	.	ENSG00000117620	ENST00000370155;ENST00000465289;ENST00000427993;ENST00000532693;ENST00000370153;ENST00000422078	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.67	4.55	0.56014	.	0.139091	0.64402	D	0.000003	T	0.13415	0.0325	L	0.29908	0.895	0.43296	D	0.995285	B;B;B	0.20550	0.004;0.046;0.001	B;B;B	0.12156	0.003;0.005;0.007	T	0.05683	-1.0870	10	0.36615	T	0.2	-15.0611	6.8392	0.23953	0.1336:0.0709:0.0:0.7955	.	82;123;82	Q9BSB7;Q9Y2D2-2;Q9Y2D2	.;.;S35A3_HUMAN	T	82;82;82;82;124;82	ENSP00000359174:M82T;ENSP00000418527:M82T;ENSP00000414947:M82T;ENSP00000359172:M124T;ENSP00000401679:M82T	ENSP00000359172:M124T	M	+	2	0	SLC35A3	100237462	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.121000	0.50438	0.981000	0.38548	0.533000	0.62120	ATG		0.318	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1	NM_012243	
UBE4B	10277	broad.mit.edu	37	1	10192507	10192507	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:10192507C>T	ENST00000253251.8	+	14	2444	c.1605C>T	c.(1603-1605)gtC>gtT	p.V535V	UBE4B_ENST00000343090.6_Silent_p.V664V|UBE4B_ENST00000377157.3_Silent_p.V419V|UBE4B_ENST00000475795.1_3'UTR					ubiquitination factor E4B									p.V535V(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGGCGGCTGTCGTCAATGCCA	0.398																																					p.V664V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1992T	1						.						73.0	70.0	71.0					1																	10192507		2203	4300	6503	10115094	SO:0001819	synonymous_variant	10277	exon15			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.1605C>T	1.37:g.10192507C>T			10115094	NM_001105562		Silent	SNP	ENST00000253251.8	37	CCDS110.1																																																																																				0.398	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048	
RTCA	8634	broad.mit.edu	37	1	100736202	100736202	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:100736202C>T	ENST00000370128.4	+	4	549	c.380C>T	c.(379-381)gCt>gTt	p.A127V	RTCA_ENST00000260563.4_Missense_Mutation_p.A140V|RTCA_ENST00000498617.1_3'UTR	NM_003729.3	NP_003720.1	O00442	RTCA_HUMAN	RNA 3'-terminal phosphate cyclase	127					RNA processing (GO:0006396)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA-3'-phosphate cyclase activity (GO:0003963)	p.A127V(1)									GGAACTAATGCTGAAATGGCA	0.428																																					p.A127V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C380T	1						.						250.0	228.0	235.0					1																	100736202		2203	4300	6503	100508790	SO:0001583	missense	8634	exon4			Y11651	CCDS768.1, CCDS44178.1	1p13.3	2012-03-30	2012-03-30	2012-03-30	ENSG00000137996	ENSG00000137996	6.5.1.4		17981	protein-coding gene	gene with protein product		611286	"""RTC domain containing 1"", ""RNA terminal phosphate cyclase domain 1"""	RTCD1		9184239	Standard	NM_003729		Approved	RPC, RTC1	uc001dtd.3	O00442	OTTHUMG00000010920	ENST00000370128.4:c.380C>T	1.37:g.100736202C>T	ENSP00000359146:p.Ala127Val		100508790	NM_003729	Q5VVL5|Q5VVL6|Q96E99	Missense_Mutation	SNP	ENST00000370128.4	37	CCDS768.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126434	0.56721	.	.	ENSG00000137996	ENST00000370128;ENST00000260563	.	.	.	5.83	5.83	0.93111	-terminal phosphate cyclase domain (2);RNA 3&apos (4);-terminal phosphate cyclase/enolpyruvate transferase, alpha/beta (1);-terminal phosphate cyclase (1);	0.000000	0.85682	D	0.000000	T	0.41419	0.1158	N	0.16602	0.42	0.80722	D	1	P;B	0.40931	0.733;0.088	P;B	0.47162	0.54;0.177	T	0.27739	-1.0065	9	0.23891	T	0.37	-17.0479	20.1374	0.98035	0.0:1.0:0.0:0.0	.	140;127	O00442-2;O00442	.;RTC1_HUMAN	V	127;140	.	ENSP00000260563:A140V	A	+	2	0	RTCD1	100508790	1.000000	0.71417	0.996000	0.52242	0.077000	0.17291	7.416000	0.80143	2.763000	0.94921	0.563000	0.77884	GCT		0.428	RTCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030098.2		
COL11A1	1301	broad.mit.edu	37	1	103484385	103484385	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:103484385C>T	ENST00000370096.3	-	10	1651	c.1339G>A	c.(1339-1341)Gca>Aca	p.A447T	COL11A1_ENST00000358392.2_Missense_Mutation_p.A459T|COL11A1_ENST00000353414.4_Missense_Mutation_p.A408T|COL11A1_ENST00000512756.1_Missense_Mutation_p.A331T	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	447	Collagen-like 1.|Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.A459T(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCAGGTCCTGCTGGTCCTGGT	0.328																																					p.A447T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1339A	1						.						56.0	58.0	57.0					1																	103484385		2203	4300	6503	103256973	SO:0001583	missense	1301	exon10			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1339G>A	1.37:g.103484385C>T	ENSP00000359114:p.Ala447Thr		103256973	NM_001854	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025338	0.35701	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-1.84;-1.84	5.68	3.66	0.41972	.	0.238062	0.42053	D	0.000772	T	0.75606	0.3872	N	0.20357	0.565	0.22888	N	0.9986	B;B;B;B	0.20164	0.042;0.034;0.034;0.042	B;B;B;B	0.26202	0.067;0.04;0.04;0.067	T	0.65245	-0.6215	10	0.30854	T	0.27	.	5.1462	0.14987	0.1379:0.5257:0.2573:0.0791	.	331;408;459;447	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	T	447;459;408;331;459	ENSP00000359114:A447T;ENSP00000351163:A459T;ENSP00000302551:A408T;ENSP00000426533:A331T;ENSP00000408640:A459T	ENSP00000302551:A408T	A	-	1	0	COL11A1	103256973	0.997000	0.39634	1.000000	0.80357	0.957000	0.61999	0.473000	0.22132	1.355000	0.45865	0.637000	0.83480	GCA		0.328	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
GPSM2	29899	broad.mit.edu	37	1	109461391	109461391	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:109461391C>T	ENST00000406462.2	+	13	2193	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Nonsense_Mutation_p.R474*			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	474					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)	p.R467*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TATTGACCACCGAATTCCAAA	0.363																																					p.R474X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1420T	1						.						87.0	88.0	88.0					1																	109461391		2203	4300	6503	109262914	SO:0001587	stop_gained	29899	exon12			AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.1420C>T	1.37:g.109461391C>T	ENSP00000385510:p.Arg474*		109262914	NM_013296	Q5T1N8|Q6IBL7|Q8N0Z5	Nonsense_Mutation	SNP	ENST00000406462.2	37	CCDS792.2	.	.	.	.	.	.	.	.	.	.	C	43	10.232969	0.99365	.	.	ENSG00000121957	ENST00000406462;ENST00000264126	.	.	.	5.91	4.98	0.66077	.	0.342358	0.30556	N	0.009363	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.6336	13.9814	0.64306	0.2761:0.7239:0.0:0.0	.	.	.	.	X	474	.	ENSP00000264126:R474X	R	+	1	2	GPSM2	109262914	1.000000	0.71417	0.983000	0.44433	0.983000	0.72400	2.112000	0.41892	1.473000	0.48159	0.558000	0.71614	CGA		0.363	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296	
CELSR2	1952	broad.mit.edu	37	1	109801515	109801515	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:109801515T>G	ENST00000271332.3	+	2	3833	c.3772T>G	c.(3772-3774)Tcc>Gcc	p.S1258A		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1258	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S1258A(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTTCATCGCCTCCTCCTCCGT	0.687																																					p.S1258A	NSCLC(158;1285 2011 34800 34852 42084)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3772G	1						.						41.0	36.0	37.0					1																	109801515		2200	4300	6500	109603038	SO:0001583	missense	1952	exon2			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3772T>G	1.37:g.109801515T>G	ENSP00000271332:p.Ser1258Ala		109603038	NM_001408	Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.682890	0.88542	.	.	ENSG00000143126	ENST00000271332	T	0.52526	0.66	4.54	4.54	0.55810	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.39655	0.1086	M	0.83953	2.67	0.54753	D	0.999982	P	0.40534	0.72	B	0.37601	0.254	T	0.50841	-0.8780	9	0.46703	T	0.11	.	13.991	0.64367	0.0:0.0:0.0:1.0	.	1258	Q9HCU4	CELR2_HUMAN	A	1258	ENSP00000271332:S1258A	ENSP00000271332:S1258A	S	+	1	0	CELSR2	109603038	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.766000	0.62279	2.039000	0.60335	0.379000	0.24179	TCC		0.687	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408	
AMPD2	271	broad.mit.edu	37	1	110170826	110170826	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:110170826C>T	ENST00000256578.3	+	10	1724	c.1364C>T	c.(1363-1365)aCg>aTg	p.T455M	RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000528667.1_Missense_Mutation_p.T455M|AMPD2_ENST00000342115.4_Missense_Mutation_p.T374M|AMPD2_ENST00000393688.3_Missense_Mutation_p.T336M|AMPD2_ENST00000528454.1_Missense_Mutation_p.T337M|AMPD2_ENST00000358729.4_Missense_Mutation_p.T380M|AMPD2_ENST00000526301.1_3'UTR	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	455					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.T374M(1)|p.T455M(1)		breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CGTGAACAGACGCTGCGGGAG	0.607																																					p.T455M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1364T	1						.						74.0	74.0	74.0					1																	110170826		2203	4300	6503	109972349	SO:0001583	missense	271	exon10			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1364C>T	1.37:g.110170826C>T	ENSP00000256578:p.Thr455Met		109972349	NM_004037	B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	CCDS805.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821549	0.90873	.	.	ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688	D;D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92;-1.92	5.04	5.04	0.67666	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.94401	0.8199	H	0.95816	3.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.989;0.998	D	0.95607	0.8668	10	0.87932	D	0	-30.0052	17.3138	0.87217	0.0:1.0:0.0:0.0	.	380;336;455;374	Q01433-4;Q01433-3;Q01433;Q01433-2	.;.;AMPD2_HUMAN;.	M	374;455;455;380;337;336	ENSP00000345498:T374M;ENSP00000436541:T455M;ENSP00000256578:T455M;ENSP00000351573:T380M;ENSP00000437164:T337M;ENSP00000377292:T336M	ENSP00000256578:T455M	T	+	2	0	AMPD2	109972349	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.577000	0.82486	2.634000	0.89283	0.561000	0.74099	ACG		0.607	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1		
ALX3	257	broad.mit.edu	37	1	110603358	110603358	+	Silent	SNP	C	C	T	rs372987570		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:110603358C>T	ENST00000369792.4	-	4	1116	c.1029G>A	c.(1027-1029)acG>acA	p.T343T	RP4-773N10.4_ENST00000554749.1_RNA|RP4-773N10.4_ENST00000596959.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	343					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T343T(1)		large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAACCGATCACGTGGTCCAGT	0.572																																					p.T343T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1029A	1						.	C		0,4406		0,0,2203	56.0	51.0	53.0		1029	3.0	1.0	1		53	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ALX3	NM_006492.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		343/344	110603358	2,13004	2203	4300	6503	110404881	SO:0001819	synonymous_variant	257	exon4			AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"""Homeoboxes / PRD class"""	449	protein-coding gene	gene with protein product		606014	"""aristaless-like homeobox 3"", ""frontonasal dysplasia"""	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.1029G>A	1.37:g.110603358C>T			110404881	NM_006492	O95075|Q5T8M4	Silent	SNP	ENST00000369792.4	37	CCDS819.1																																																																																				0.572	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492	
ANGPTL7	10218	broad.mit.edu	37	1	11249916	11249916	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:11249916C>T	ENST00000376819.3	+	1	519	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	94					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)		p.R94W(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		CATGGAGTCGCGGCTCACAGA	0.557																																					p.R94W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C280T	1						.						94.0	87.0	89.0					1																	11249916		2203	4300	6503	11172503	SO:0001583	missense	10218	exon1			Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"""Fibrinogen C domain containing"""	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.280C>T	1.37:g.11249916C>T	ENSP00000366015:p.Arg94Trp		11172503	NM_021146	B2R9B2|F1T0A6|Q4ZGK4	Missense_Mutation	SNP	ENST00000376819.3	37	CCDS128.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277660	0.80692	.	.	ENSG00000171819	ENST00000376819	T	0.56275	0.47	5.07	4.15	0.48705	.	0.363377	0.28470	N	0.015232	T	0.62245	0.2412	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64236	-0.6455	10	0.51188	T	0.08	.	15.1848	0.72993	0.1422:0.8578:0.0:0.0	.	94	O43827	ANGL7_HUMAN	W	94	ENSP00000366015:R94W	ENSP00000366015:R94W	R	+	1	2	ANGPTL7	11172503	1.000000	0.71417	0.883000	0.34634	0.956000	0.61745	4.588000	0.60999	1.251000	0.43983	0.655000	0.94253	CGG		0.557	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005564.1	NM_021146	
RBM15	64783	broad.mit.edu	37	1	110883998	110883998	+	Silent	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:110883998T>C	ENST00000369784.3	+	1	2871	c.1971T>C	c.(1969-1971)ccT>ccC	p.P657P	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000602849.1_Silent_p.P657P|RBM15_ENST00000487146.2_Silent_p.P657P	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	657	Arg-rich.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P657P(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		ATAGGTCTCCTGAGAGTGACC	0.572			T	MKL1	acute megakaryocytic leukemia																																p.P657P			Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1971C	1						.						60.0	51.0	54.0					1																	110883998		2203	4300	6503	110685521	SO:0001819	synonymous_variant	64783	exon1			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1971T>C	1.37:g.110883998T>C			110685521	NM_022768	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Silent	SNP	ENST00000369784.3	37	CCDS822.1																																																																																				0.572	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768	
BCAS2	10286	broad.mit.edu	37	1	115118321	115118321	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:115118321C>T	ENST00000369541.3	-	4	356	c.309G>A	c.(307-309)tgG>tgA	p.W103*	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	103					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cell junction (GO:0030054)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)		p.W103*(1)		biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACATTCTTGCCATGCAGTAA	0.388																																					p.W103X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G309A	1						.						125.0	115.0	119.0					1																	115118321		2203	4300	6503	114919844	SO:0001587	stop_gained	10286	exon4			AB020623	CCDS874.1	1p13.2	2010-01-25			ENSG00000116752	ENSG00000116752			975	protein-coding gene	gene with protein product		605783				9731529, 10403562	Standard	NM_005872		Approved	DAM1, SPF27, Snt309	uc001efa.3	O75934	OTTHUMG00000011898	ENST00000369541.3:c.309G>A	1.37:g.115118321C>T	ENSP00000358554:p.Trp103*		114919844	NM_005872	Q6FGS0	Nonsense_Mutation	SNP	ENST00000369541.3	37	CCDS874.1	.	.	.	.	.	.	.	.	.	.	C	32	5.185437	0.94885	.	.	ENSG00000116752	ENST00000369541	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.1436	19.5317	0.95231	0.0:1.0:0.0:0.0	.	.	.	.	X	103	.	ENSP00000358554:W103X	W	-	3	0	BCAS2	114919844	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.269000	0.78482	2.701000	0.92244	0.644000	0.83932	TGG		0.388	BCAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032871.1	NM_005872	
FBXO2	26232	broad.mit.edu	37	1	11710106	11710106	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:11710106C>T	ENST00000354287.4	-	3	758	c.417G>A	c.(415-417)gtG>gtA	p.V139V	FBXO2_ENST00000475961.1_5'Flank	NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	139	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				cellular protein modification process (GO:0006464)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of protein ubiquitination (GO:0031396)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|SCF ubiquitin ligase complex (GO:0019005)	beta-amyloid binding (GO:0001540)|carbohydrate binding (GO:0030246)|ubiquitin-protein transferase activity (GO:0004842)	p.V139V(1)		kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		CACCATGCTCCACGTCACACC	0.617																																					p.V139V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G417A	1						.						189.0	174.0	179.0					1																	11710106		2203	4300	6503	11632693	SO:0001819	synonymous_variant	26232	exon3			AF174594	CCDS130.1	1p36.21	2010-04-21	2004-06-15		ENSG00000116661	ENSG00000116661		"""F-boxes /  ""other"""""	13581	protein-coding gene	gene with protein product		607112	"""F-box only protein 2"", ""organ of Corti protein 1"""	OCP1		10531035, 10531037	Standard	NM_012168		Approved	FBX2, Nfb42, Fbs1, Fbg1	uc001asj.3	Q9UK22	OTTHUMG00000002072	ENST00000354287.4:c.417G>A	1.37:g.11710106C>T			11632693	NM_012168	B2R7K7|Q5TGY0|Q6FGJ7|Q8TB29|Q9UKC6	Silent	SNP	ENST00000354287.4	37	CCDS130.1																																																																																				0.617	FBXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005764.1	NM_012168	
DRAXIN	374946	broad.mit.edu	37	1	11775212	11775212	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:11775212C>T	ENST00000294485.5	+	6	1019	c.884C>T	c.(883-885)cCc>cTc	p.P295L		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein									p.P295L(1)									CTCTGCACACCCCACAACCGA	0.612																																					p.P295L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C884T	1						.						171.0	132.0	145.0					1																	11775212		2203	4300	6503	11697799	SO:0001583	missense	374946	exon6			AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490			25054	protein-coding gene	gene with protein product	"""dorsal repulsive axon guidance protein"", ""neural tissue-specific cysteine-rich protein"""	612682	"""chromosome 1 open reading frame 187"""	C1orf187		19150847	Standard	NM_198545		Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.884C>T	1.37:g.11775212C>T	ENSP00000294485:p.Pro295Leu		11697799	NM_198545		Missense_Mutation	SNP	ENST00000294485.5	37	CCDS135.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504698	0.64410	.	.	ENSG00000162490	ENST00000294485	T	0.52526	0.66	4.82	4.82	0.62117	.	0.069029	0.64402	D	0.000015	T	0.61286	0.2335	L	0.54908	1.71	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.55768	-0.8089	10	0.17832	T	0.49	-24.0075	16.9031	0.86118	0.0:1.0:0.0:0.0	.	295	Q8NBI3	DRAXI_HUMAN	L	295	ENSP00000294485:P295L	ENSP00000294485:P295L	P	+	2	0	C1orf187	11697799	0.996000	0.38824	0.997000	0.53966	0.985000	0.73830	5.464000	0.66719	2.216000	0.71823	0.561000	0.74099	CCC		0.612	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006325.1	NM_198545	
CSDE1	7812	broad.mit.edu	37	1	115267926	115267926	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:115267926C>T	ENST00000358528.4	-	15	2095	c.1669G>A	c.(1669-1671)Gaa>Aaa	p.E557K	CSDE1_ENST00000261443.5_Missense_Mutation_p.E526K|CSDE1_ENST00000530886.1_Missense_Mutation_p.E427K|CSDE1_ENST00000534699.1_Missense_Mutation_p.E557K|CSDE1_ENST00000339438.6_Missense_Mutation_p.E526K|CSDE1_ENST00000369530.1_Missense_Mutation_p.E572K|CSDE1_ENST00000438362.2_Missense_Mutation_p.E603K|Y_RNA_ENST00000365030.1_RNA	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	557	CSD 7.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.E557K(1)|p.E557Q(1)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCCCCAGTTCCAGGCTATCA	0.388																																					p.E572K												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.G1714A	1						.						194.0	179.0	184.0					1																	115267926		2203	4300	6503	115069449	SO:0001583	missense	7812	exon15				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1669G>A	1.37:g.115267926C>T	ENSP00000351329:p.Glu557Lys		115069449	NM_001130523	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989779	0.93106	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.98	5.07	0.68467	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.098090	0.64402	D	0.000001	T	0.48077	0.1480	L	0.31157	0.91	0.58432	D	0.999996	D;B;B	0.56746	0.977;0.021;0.085	P;B;B	0.57152	0.814;0.025;0.066	T	0.46789	-0.9166	9	0.29301	T	0.29	-6.3259	15.4424	0.75195	0.0:0.9337:0.0:0.0663	.	572;557;603	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	K	526;603;557;526;427;572;557	.	ENSP00000261443:E526K	E	-	1	0	CSDE1	115069449	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.107000	0.77047	1.542000	0.49330	-0.143000	0.13931	GAA		0.388	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158	
PHGDH	26227	broad.mit.edu	37	1	120284473	120284473	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:120284473G>A	ENST00000369409.4	+	10	1298	c.1162G>A	c.(1162-1164)Gtg>Atg	p.V388M	PHGDH_ENST00000482968.1_3'UTR|PHGDH_ENST00000369407.3_Missense_Mutation_p.V354M	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	388					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)	p.V388M(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		GCAGGCGGATGTGAACTTGGT	0.582																																					p.V388M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1162A	1						.						86.0	75.0	78.0					1																	120284473		2203	4300	6503	120085996	SO:0001583	missense	26227	exon10			BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.1162G>A	1.37:g.120284473G>A	ENSP00000358417:p.Val388Met		120085996	NM_006623	B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	CCDS904.1	.	.	.	.	.	.	.	.	.	.	.	10.09	1.254530	0.22965	.	.	ENSG00000092621	ENST00000369409;ENST00000537497;ENST00000369407	D;D	0.89270	-2.49;-2.49	5.54	3.64	0.41730	.	0.362131	0.29273	N	0.012623	T	0.77425	0.4128	L	0.46157	1.445	0.23827	N	0.996731	B;B;P;B	0.40553	0.128;0.128;0.721;0.376	B;B;B;B	0.41174	0.071;0.071;0.349;0.071	T	0.71724	-0.4506	10	0.87932	D	0	-12.8122	8.1921	0.31374	0.2515:0.0:0.7485:0.0	.	354;354;261;388	B3KSC3;Q5SZU1;F5H634;O43175	.;.;.;SERA_HUMAN	M	388;261;354	ENSP00000358417:V388M;ENSP00000358415:V354M	ENSP00000358415:V354M	V	+	1	0	PHGDH	120085996	0.997000	0.39634	0.693000	0.30195	0.174000	0.22865	2.729000	0.47327	1.338000	0.45544	0.655000	0.94253	GTG		0.582	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623	
VPS13D	55187	broad.mit.edu	37	1	12336223	12336223	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:12336223C>T	ENST00000358136.3	+	19	2708	c.2578C>T	c.(2578-2580)Cgt>Tgt	p.R860C	VPS13D_ENST00000356315.4_Missense_Mutation_p.R860C	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.R860C(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACAGTTAGAGCGTCGATTGAT	0.423											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R860C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2578T	1						.						94.0	94.0	94.0					1																	12336223		2203	4300	6503	12258810	SO:0001583	missense	55187	exon19			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.2578C>T	1.37:g.12336223C>T	ENSP00000350854:p.Arg860Cys	679	12258810	NM_018156		Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262707	0.39995	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.51071	0.72;0.72	5.87	4.95	0.65309	.	0.059552	0.64402	D	0.000001	T	0.66127	0.2758	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.67231	0.95;0.893	T	0.67292	-0.5707	10	0.42905	T	0.14	.	17.0582	0.86540	0.0:0.873:0.127:0.0	.	860;860	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	C	860	ENSP00000348666:R860C;ENSP00000350854:R860C	ENSP00000348666:R860C	R	+	1	0	VPS13D	12258810	1.000000	0.71417	0.979000	0.43373	0.314000	0.28054	5.776000	0.68924	1.474000	0.48178	-0.176000	0.13171	CGT		0.423	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
NOTCH2	4853	broad.mit.edu	37	1	120462179	120462179	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:120462179T>C	ENST00000256646.2	-	31	5756	c.5537A>G	c.(5536-5538)gAt>gGt	p.D1846G	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1846					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.D1846G(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCATCTTCATCACTCAAATC	0.502			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																												p.D1846G			Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5537G	1						.						57.0	49.0	51.0					1																	120462179		2203	4300	6503	120263702	SO:0001583	missense	4853	exon31	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5537A>G	1.37:g.120462179T>C	ENSP00000256646:p.Asp1846Gly		120263702	NM_024408	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.068228	0.55539	.	.	ENSG00000134250	ENST00000256646	D	0.82619	-1.63	5.84	5.84	0.93424	Ankyrin repeat-containing domain (3);	0.188976	0.25628	U	0.029380	T	0.59783	0.2219	N	0.22421	0.69	0.58432	D	0.999998	P	0.36282	0.546	B	0.33295	0.161	T	0.64084	-0.6490	10	0.19147	T	0.46	.	15.397	0.74805	0.0:0.0:0.0:1.0	.	1846	Q04721	NOTC2_HUMAN	G	1846	ENSP00000256646:D1846G	ENSP00000256646:D1846G	D	-	2	0	NOTCH2	120263702	0.987000	0.35691	0.999000	0.59377	0.954000	0.61252	2.026000	0.41069	2.243000	0.73865	0.533000	0.62120	GAT		0.502	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
HFE2	148738	broad.mit.edu	37	1	145415825	145415825	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:145415825C>T	ENST00000336751.5	+	3	882	c.644C>T	c.(643-645)aCc>aTc	p.T215I	HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_Missense_Mutation_p.T102I|HFE2_ENST00000475797.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	215					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.T215I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCAACGCTACCGCCACCCGG	0.557																																					p.T215I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C644T	1						.						94.0	98.0	97.0					1																	145415825		2203	4300	6503	144127182	SO:0001583	missense	148738	exon3			AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.644C>T	1.37:g.145415825C>T	ENSP00000337014:p.Thr215Ile		144127182	NM_213653	B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	ENST00000336751.5	37	CCDS910.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485146	0.63962	.	.	ENSG00000168509	ENST00000357836;ENST00000336751	D;D	0.98345	-4.88;-4.88	4.32	4.32	0.51571	Repulsive guidance molecule, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98707	0.9566	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99659	1.0993	10	0.72032	D	0.01	-21.95	14.3622	0.66779	0.0:1.0:0.0:0.0	.	215	Q6ZVN8	RGMC_HUMAN	I	102;215	ENSP00000350495:T102I;ENSP00000337014:T215I	ENSP00000337014:T215I	T	+	2	0	HFE2	144127182	1.000000	0.71417	0.999000	0.59377	0.335000	0.28730	7.499000	0.81566	2.237000	0.73441	0.558000	0.71614	ACC		0.557	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277	
ANKRD35	148741	broad.mit.edu	37	1	145562138	145562138	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:145562138C>T	ENST00000355594.4	+	10	1913	c.1826C>T	c.(1825-1827)gCa>gTa	p.A609V		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	609								p.A609V(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGGCCTGGCAAAGGGACAG	0.582																																					p.A609V	Melanoma(9;127 754 22988 51047)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1826T	1						.						38.0	46.0	43.0					1																	145562138		2203	4300	6503	144273495	SO:0001583	missense	148741	exon10			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1826C>T	1.37:g.145562138C>T	ENSP00000347802:p.Ala609Val		144273495	NM_144698	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	CCDS919.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.728755	0.48833	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.39997	1.05	5.25	4.31	0.51392	.	0.348813	0.20879	N	0.084031	T	0.25717	0.0626	M	0.68317	2.08	0.26969	N	0.965634	P	0.34522	0.455	B	0.34991	0.193	T	0.14254	-1.0479	10	0.66056	D	0.02	-4.9737	11.5043	0.50456	0.0:0.8184:0.1815:0.0	.	609	Q8N283	ANR35_HUMAN	V	518;609	ENSP00000347802:A609V	ENSP00000347802:A609V	A	+	2	0	ANKRD35	144273495	0.027000	0.19231	0.171000	0.22900	0.963000	0.63663	1.152000	0.31663	1.146000	0.42352	0.655000	0.94253	GCA		0.582	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698	
GPR89B	51463	broad.mit.edu	37	1	147415652	147415652	+	Nonsense_Mutation	SNP	C	C	T	rs145261510		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:147415652C>T	ENST00000314163.7	+	4	451	c.307C>T	c.(307-309)Cga>Tga	p.R103*		NM_016334.3	NP_057418.1	P0CG08	GPHRB_HUMAN	G protein-coupled receptor 89B	103					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	voltage-gated ion channel activity (GO:0005244)	p.R103*(1)		large_intestine(1)	1	all_hematologic(923;0.0276)					GAGCAATATCCGACTACGTAA	0.373													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16196	0.0		0.0	False		,,,				2504	0.0				p.R103X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C307T	1						.	C	stop/ARG	3,4403	6.2+/-15.9	0,3,2200	112.0	121.0	118.0		307	2.6	0.7	1	dbSNP_134	118	5,8595	3.7+/-12.6	0,5,4295	no	stop-gained	GPR89B	NM_016334.3		0,8,6495	TT,TC,CC		0.0581,0.0681,0.0615		103/456	147415652	8,12998	2203	4300	6503	145882276	SO:0001587	stop_gained	51463	exon4			U78723	CCDS930.1	1q21.1	2014-06-19	2007-06-06	2007-06-06	ENSG00000188092	ENSG00000188092			13840	protein-coding gene	gene with protein product		612806	"""G protein-coupled receptor 89"", ""G protein-coupled receptor 89C"""	GPR89, GPR89C		11042152	Standard	NM_016334		Approved	SH120	uc001epv.4	P0CG08	OTTHUMG00000013452	ENST00000314163.7:c.307C>T	1.37:g.147415652C>T	ENSP00000358233:p.Arg103*		145882276	NM_016334	A6NN37|B2RUV3|B3KMN3|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Nonsense_Mutation	SNP	ENST00000314163.7	37	CCDS930.1	.	.	.	.	.	.	.	.	.	.	c	19.80	3.894996	0.72639	6.81E-4	5.81E-4	ENSG00000188092	ENST00000314163	.	.	.	3.52	2.6	0.31112	.	0.149182	0.45606	D	0.000344	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-0.476	6.9217	0.24391	0.172:0.7293:0.0:0.0987	.	.	.	.	X	103	.	ENSP00000358233:R103X	R	+	1	2	GPR89B	145882276	1.000000	0.71417	0.653000	0.29593	0.175000	0.22909	3.776000	0.55356	0.701000	0.31803	0.552000	0.68991	CGA		0.373	GPR89B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037481.2	NM_016334	
HIST2H3D	653604	broad.mit.edu	37	1	149784856	149784856	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:149784856C>A	ENST00000331491.1	-	1	380	c.381G>T	c.(379-381)ttG>ttT	p.L127F	HIST2H2BF_ENST00000427880.2_5'Flank|HIST2H2BF_ENST00000469483.1_5'Flank|HIST2H2BF_ENST00000545683.1_5'Flank|HIST2H2BF_ENST00000369167.1_5'Flank|RP11-196G18.21_ENST00000420462.1_RNA	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	127					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L127F(1)		biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						TGCGGCGGGCCAACTGGATGT	0.582																																					p.L127F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G381T	1						.						49.0	52.0	51.0					1																	149784856		1568	3581	5149	148051480	SO:0001583	missense	653604	exon1			AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"""Histones / Replication-dependent"""	25311	protein-coding gene	gene with protein product			"""histone 2, H3d"""				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.381G>T	1.37:g.149784856C>A	ENSP00000333277:p.Leu127Phe		148051480	NM_001123375	A2BDF6|A6NFS4|Q6B053	Missense_Mutation	SNP	ENST00000331491.1	37	CCDS41388.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185917	0.57909	.	.	ENSG00000183598	ENST00000331491	T	0.74002	-0.8	4.04	4.04	0.47022	.	0.000000	0.43747	U	0.000525	T	0.79992	0.4542	.	.	.	0.50813	D	0.999891	.	.	.	.	.	.	T	0.83336	-0.0010	7	0.87932	D	0	.	15.2971	0.73916	0.0:1.0:0.0:0.0	.	.	.	.	F	127	ENSP00000333277:L127F	ENSP00000333277:L127F	L	-	3	2	HIST2H3D	148051480	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.063000	0.30567	2.262000	0.75019	0.436000	0.28706	TTG		0.582	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1	NM_001123375	
PLEKHO1	51177	broad.mit.edu	37	1	150131702	150131702	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:150131702G>A	ENST00000369124.4	+	6	1492	c.1214G>A	c.(1213-1215)cGg>cAg	p.R405Q	PLEKHO1_ENST00000025469.6_Missense_Mutation_p.R371Q|PLEKHO1_ENST00000369126.1_Missense_Mutation_p.R222Q	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	405	Negative regulator of AP-1 activity.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R405Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTCAGTACCGGAAGAGCCTG	0.552																																					p.R405Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1214A	1						.						20.0	23.0	22.0					1																	150131702		2203	4300	6503	148398326	SO:0001583	missense	51177	exon6			AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.1214G>A	1.37:g.150131702G>A	ENSP00000358120:p.Arg405Gln		148398326	NM_016274	Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Missense_Mutation	SNP	ENST00000369124.4	37	CCDS945.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715832	0.89112	.	.	ENSG00000023902	ENST00000369126;ENST00000025469;ENST00000369124	T;T	0.63580	-0.05;0.22	4.82	4.82	0.62117	.	0.068937	0.49305	D	0.000150	T	0.51432	0.1674	L	0.27053	0.805	0.52099	D	0.999943	D	0.71674	0.998	P	0.51193	0.662	T	0.60198	-0.7310	10	0.87932	D	0	-25.6012	17.0662	0.86559	0.0:0.0:1.0:0.0	.	405	Q53GL0	PKHO1_HUMAN	Q	222;371;405	ENSP00000025469:R371Q;ENSP00000358120:R405Q	ENSP00000025469:R371Q	R	+	2	0	PLEKHO1	148398326	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.298000	0.72763	2.503000	0.84419	0.591000	0.81541	CGG		0.552	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274	
CELF3	11189	broad.mit.edu	37	1	151678725	151678725	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:151678725C>T	ENST00000290583.4	-	10	1894	c.1101G>A	c.(1099-1101)caG>caA	p.Q367Q	CELF3_ENST00000392706.3_Silent_p.Q162Q|CELF3_ENST00000290585.4_Silent_p.Q317Q|CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	367	Gln-rich.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.Q367Q(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						gctgctgttgctgctgctgct	0.657																																					p.Q367Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1101A	1						.						18.0	19.0	19.0					1																	151678725		2200	4292	6492	149945349	SO:0001819	synonymous_variant	11189	exon10			U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.1101G>A	1.37:g.151678725C>T			149945349	NM_007185	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Silent	SNP	ENST00000290583.4	37	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	6.031	0.374049	0.11409	.	.	ENSG00000159409	ENST00000420342	.	.	.	4.11	2.19	0.27852	.	.	.	.	.	T	0.38719	0.1051	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23583	-1.0184	4	.	.	.	-4.4657	5.9572	0.19279	0.0:0.755:0.0:0.245	.	.	.	.	N	368	.	.	S	-	2	0	CELF3	149945349	0.942000	0.31987	1.000000	0.80357	0.747000	0.42532	-0.032000	0.12266	0.496000	0.27904	-0.258000	0.10820	AGC		0.657	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185	
LINGO4	339398	broad.mit.edu	37	1	151773784	151773784	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:151773784T>C	ENST00000368820.3	-	2	2334	c.1397A>G	c.(1396-1398)gAt>gGt	p.D466G	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	466	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.D466G(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGTGTCCCATCCTCTAGGAC	0.607																																					p.D466G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1397G	1						.						156.0	145.0	148.0					1																	151773784		2203	4300	6503	150040408	SO:0001583	missense	339398	exon2				CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1397A>G	1.37:g.151773784T>C	ENSP00000357810:p.Asp466Gly		150040408	NM_001004432		Missense_Mutation	SNP	ENST00000368820.3	37	CCDS30855.1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.283681	0.40394	.	.	ENSG00000213171	ENST00000368820	T	0.31510	1.49	5.53	5.53	0.82687	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000089	T	0.15349	0.0370	L	0.37630	1.12	0.52501	D	0.999951	B	0.24483	0.104	B	0.31495	0.131	T	0.05273	-1.0895	10	0.30854	T	0.27	.	13.6642	0.62384	0.0:0.0:0.0:1.0	.	466	Q6UY18	LIGO4_HUMAN	G	466	ENSP00000357810:D466G	ENSP00000357810:D466G	D	-	2	0	LINGO4	150040408	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	6.126000	0.71635	2.322000	0.78497	0.528000	0.53228	GAT		0.607	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387	
FLG	2312	broad.mit.edu	37	1	152277455	152277455	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:152277455C>T	ENST00000368799.1	-	3	9942	c.9907G>A	c.(9907-9909)Gga>Aga	p.G3303R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3303	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G3303R(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCGGGATCCGTGTCTCTCT	0.577									Ichthyosis																												p.G3303R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9907A	1						.						383.0	375.0	378.0					1																	152277455		2203	4300	6503	150544079	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9907G>A	1.37:g.152277455C>T	ENSP00000357789:p.Gly3303Arg		150544079	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451593	0.26074	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.05649	3.41	3.35	2.41	0.29592	.	.	.	.	.	T	0.09818	0.0241	M	0.66939	2.045	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.10405	-1.0631	9	0.52906	T	0.07	.	8.0935	0.30813	0.0:0.5787:0.4213:0.0	.	3303	P20930	FILA_HUMAN	R	3303;241	ENSP00000357789:G3303R	ENSP00000357786:G241R	G	-	1	0	FLG	150544079	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.570000	0.05895	0.699000	0.31761	0.298000	0.19748	GGA		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	broad.mit.edu	37	1	152282494	152282494	+	Missense_Mutation	SNP	C	C	T	rs201196640		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:152282494C>T	ENST00000368799.1	-	3	4903	c.4868G>A	c.(4867-4869)cGg>cAg	p.R1623Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1623	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R1623Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTGCTCCCGAGCAGATCC	0.552									Ichthyosis				C|||	1	0.000199681	0.0008	0.0	5008	,	,		18939	0.0		0.0	False		,,,				2504	0.0				p.R1623Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4868A	1						.						132.0	143.0	139.0					1																	152282494		2203	4300	6503	150549118	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4868G>A	1.37:g.152282494C>T	ENSP00000357789:p.Arg1623Gln		150549118	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.517	0.867855	0.17250	.	.	ENSG00000143631	ENST00000368799	T	0.01685	4.69	3.24	-3.2	0.05156	.	.	.	.	.	T	0.00300	0.0009	N	0.13235	0.315	0.09310	N	1	B	0.12013	0.005	B	0.01281	0.0	T	0.41502	-0.9505	9	0.12103	T	0.63	.	3.5731	0.07925	0.1686:0.2746:0.0:0.5568	.	1623	P20930	FILA_HUMAN	Q	1623	ENSP00000357789:R1623Q	ENSP00000357789:R1623Q	R	-	2	0	FLG	150549118	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.455000	0.06762	-0.796000	0.04456	-0.343000	0.07986	CGG		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	broad.mit.edu	37	1	152283373	152283373	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:152283373C>T	ENST00000368799.1	-	3	4024	c.3989G>A	c.(3988-3990)gGc>gAc	p.G1330D	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1330	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G1330D(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGATGAGTGCCTGATTGTCT	0.547									Ichthyosis																												p.G1330D												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G3989A	1						.						298.0	284.0	289.0					1																	152283373		2203	4300	6503	150549997	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3989G>A	1.37:g.152283373C>T	ENSP00000357789:p.Gly1330Asp		150549997	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	4.487	0.090229	0.08632	.	.	ENSG00000143631	ENST00000368799	T	0.07567	3.18	2.83	-0.772	0.10998	.	.	.	.	.	T	0.02649	0.0080	M	0.77616	2.38	0.09310	N	1	B	0.16802	0.019	B	0.18263	0.021	T	0.44892	-0.9298	9	0.17369	T	0.5	.	2.6559	0.05012	0.222:0.4978:0.0:0.2802	.	1330	P20930	FILA_HUMAN	D	1330	ENSP00000357789:G1330D	ENSP00000357789:G1330D	G	-	2	0	FLG	150549997	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.039000	0.12124	0.080000	0.16959	-0.573000	0.04149	GGC		0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
DENND4B	9909	broad.mit.edu	37	1	153904742	153904742	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:153904742G>A	ENST00000361217.4	-	24	4352	c.3934C>T	c.(3934-3936)Cgc>Tgc	p.R1312C	DENND4B_ENST00000474386.1_Intron	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1312					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R1200C(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGGGCAGGCGTAGCCGTTGG	0.597																																					p.R1312C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3934T	1						.						44.0	50.0	48.0					1																	153904742		2021	4191	6212	152171366	SO:0001583	missense	9909	exon24			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3934C>T	1.37:g.153904742G>A	ENSP00000354597:p.Arg1312Cys		152171366	NM_014856	Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653267	0.67472	.	.	ENSG00000198837	ENST00000361217	T	0.07216	3.21	5.14	3.25	0.37280	.	0.323509	0.32785	N	0.005659	T	0.02418	0.0074	L	0.29908	0.895	0.44123	D	0.996906	B	0.22146	0.065	B	0.09377	0.004	T	0.31998	-0.9923	10	0.72032	D	0.01	-7.3376	8.7243	0.34460	0.0849:0.4511:0.4641:0.0	.	1312	O75064	DEN4B_HUMAN	C	1312	ENSP00000354597:R1312C	ENSP00000354597:R1312C	R	-	1	0	DENND4B	152171366	0.032000	0.19561	0.997000	0.53966	0.994000	0.84299	2.242000	0.43106	0.722000	0.32252	0.563000	0.77884	CGC		0.597	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806	
JTB	10899	broad.mit.edu	37	1	153949452	153949452	+	Splice_Site	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:153949452C>T	ENST00000271843.4	-	2	556	c.121G>A	c.(121-123)Gca>Aca	p.A41T	JTB_ENST00000356648.1_5'UTR|JTB_ENST00000471173.1_Intron|JTB_ENST00000368589.1_5'UTR|RP11-422P24.11_ENST00000608236.1_lincRNA	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	41					apoptotic mitochondrial changes (GO:0008637)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|positive regulation of protein kinase activity (GO:0045860)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)	protein kinase binding (GO:0019901)	p.A41T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AATCACCCACCTGACAGCTTC	0.547																																					p.A41T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G121A	1						.						119.0	133.0	129.0					1																	153949452		2203	4300	6503	152216076	SO:0001630	splice_region_variant	10899	exon2			AB016488	CCDS1057.1	1q21	2010-11-16			ENSG00000143543	ENSG00000143543			6201	protein-coding gene	gene with protein product	"""prostate androgen-regulated gene"""	604671				10321732	Standard	NM_006694		Approved	hJT	uc001fds.3	O76095	OTTHUMG00000036590	ENST00000271843.4:c.121+1G>A	1.37:g.153949452C>T			152216076	NM_006694	O95442|Q6IB19|Q9P0Q4	Missense_Mutation	SNP	ENST00000271843.4	37	CCDS1057.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170946	0.57584	.	.	ENSG00000143543	ENST00000271843	T	0.42513	0.97	4.84	3.92	0.45320	.	1.076870	0.07149	N	0.848771	T	0.10937	0.0267	N	0.08118	0	0.80722	D	1	B	0.18013	0.025	B	0.22152	0.038	T	0.32534	-0.9903	9	.	.	.	-1.2609	8.3224	0.32136	0.0:0.8957:0.0:0.1043	.	41	O76095	JTB_HUMAN	T	41	ENSP00000271843:A41T	.	A	-	1	0	JTB	152216076	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	2.124000	0.42006	2.680000	0.91292	0.561000	0.74099	GCA		0.547	JTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088996.1	NM_006694	Missense_Mutation
TRIM46	80128	broad.mit.edu	37	1	155152336	155152336	+	Missense_Mutation	SNP	G	G	A	rs563190780		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:155152336G>A	ENST00000334634.4	+	8	1514	c.1514G>A	c.(1513-1515)cGt>cAt	p.R505H	RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368382.1_Missense_Mutation_p.R482H|TRIM46_ENST00000368385.4_Missense_Mutation_p.R505H|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000368383.3_Missense_Mutation_p.R505H|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.R379H	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	505	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R505H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TATGTGCTGCGTGTCCGCGGC	0.677													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16396	0.0		0.0	False		,,,				2504	0.0				p.R505H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1514A	1						.						32.0	36.0	34.0					1																	155152336		2203	4300	6503	153418960	SO:0001583	missense	80128	exon8				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1514G>A	1.37:g.155152336G>A	ENSP00000334657:p.Arg505His		153418960	NM_025058	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966627	0.53507	.	.	ENSG00000163462	ENST00000430513;ENST00000368385;ENST00000545012;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	3.55	3.55	0.40652	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.52581	0.1743	M	0.81497	2.545	0.45227	D	0.99823	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.87578	0.995;0.98;0.998;0.991	T	0.60652	-0.7221	10	0.87932	D	0	.	13.0312	0.58842	0.0:0.0:1.0:0.0	.	505;482;505;505	Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;TRI46_HUMAN;.	H	463;505;379;505;482;505	ENSP00000357369:R505H;ENSP00000440254:R379H;ENSP00000357367:R505H;ENSP00000357366:R482H;ENSP00000334657:R505H	ENSP00000334657:R505H	R	+	2	0	TRIM46	153418960	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	8.531000	0.90610	2.011000	0.59026	0.462000	0.41574	CGT		0.677	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058	
THBS3	7059	broad.mit.edu	37	1	155169837	155169837	+	Silent	SNP	G	G	A	rs146879343	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:155169837G>A	ENST00000368378.3	-	15	1796	c.1776C>T	c.(1774-1776)gaC>gaT	p.D592D	RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000541990.1_Silent_p.D121D|THBS3_ENST00000541576.1_De_novo_Start_OutOfFrame|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Silent_p.D472D|THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	592					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.D592D(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCCCACCCCGTCCTCATCCC	0.532													G|||	2	0.000399361	0.0	0.0	5008	,	,		20983	0.0		0.002	False		,,,				2504	0.0				p.D592D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1776T	1						.	G		1,4405	2.1+/-5.4	0,1,2202	139.0	122.0	127.0		1776	-6.6	0.8	1	dbSNP_134	127	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous	THBS3	NM_007112.3		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		592/957	155169837	4,13002	2203	4300	6503	153436461	SO:0001819	synonymous_variant	7059	exon15			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1776C>T	1.37:g.155169837G>A			153436461	NM_007112	B1AVR8|B4DQ20|Q8WV34	Silent	SNP	ENST00000368378.3	37	CCDS1099.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.62	2.589582	0.46214	2.27E-4	3.49E-4	ENSG00000169231	ENST00000428962	T	0.77620	-1.11	5.14	-6.61	0.01818	.	.	.	.	.	T	0.64789	0.2630	.	.	.	0.25114	N	0.990696	.	.	.	.	.	.	T	0.69569	-0.5110	6	0.66056	D	0.02	-24.2128	14.2701	0.66147	0.4899:0.0:0.5101:0.0	.	.	.	.	M	389	ENSP00000404040:T389M	ENSP00000404040:T389M	T	-	2	0	THBS3	153436461	0.001000	0.12720	0.763000	0.31416	0.978000	0.69477	-1.240000	0.02914	-1.442000	0.01955	-1.099000	0.02127	ACG		0.532	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112	
MEX3A	92312	broad.mit.edu	37	1	156047457	156047457	+	Silent	SNP	G	G	T	rs551074487		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:156047457G>T	ENST00000532414.2	-	2	470	c.471C>A	c.(469-471)gcC>gcA	p.A157A	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	157	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A276A(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					TGGCCCTCAAGGCCTTAATCT	0.572																																					p.A157A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C471A	1						.						31.0	32.0	32.0					1																	156047457		2095	4236	6331	154314081	SO:0001819	synonymous_variant	92312	exon2			AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.471C>A	1.37:g.156047457G>T			154314081	NM_001093725		Silent	SNP	ENST00000532414.2	37	CCDS53377.1																																																																																				0.572	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725	
SMG5	23381	broad.mit.edu	37	1	156235987	156235987	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:156235987C>T	ENST00000361813.5	-	12	1584	c.1440G>A	c.(1438-1440)tcG>tcA	p.S480S	SMG5_ENST00000368267.5_Intron|SMG5_ENST00000489907.2_5'UTR	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	480					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.S480S(1)		NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GGCTTGAGTCCGATTCAAAGC	0.572																																					p.S480S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1440A	1						.						76.0	71.0	73.0					1																	156235987		2203	4300	6503	154502611	SO:0001819	synonymous_variant	23381	exon12			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.1440G>A	1.37:g.156235987C>T			154502611	NM_015327	D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	ENST00000361813.5	37	CCDS1137.1																																																																																				0.572	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327	
MEF2D	4209	broad.mit.edu	37	1	156446855	156446855	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:156446855G>A	ENST00000348159.4	-	7	1284	c.804C>T	c.(802-804)ccC>ccT	p.P268P	MEF2D_ENST00000340875.5_Silent_p.P267P|MEF2D_ENST00000368240.2_Silent_p.P268P|MEF2D_ENST00000353795.3_Silent_p.P222P|MEF2D_ENST00000360595.3_Silent_p.P268P|MEF2D_ENST00000464356.2_Silent_p.P267P	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	268					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P268P(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCGCAGGTCGGGCTTGCGGC	0.602																																					p.P268P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C804T	1						.						80.0	79.0	79.0					1																	156446855		2203	4300	6503	154713479	SO:0001819	synonymous_variant	4209	exon7			BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"""Myocyte enhancer factors"""	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.804C>T	1.37:g.156446855G>A			154713479	NM_005920	D3DVC0|Q14815|Q5T9U5|Q5T9U6	Silent	SNP	ENST00000348159.4	37	CCDS1143.1																																																																																				0.602	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920	
ISG20L2	81875	broad.mit.edu	37	1	156696860	156696860	+	Silent	SNP	A	A	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:156696860A>T	ENST00000313146.6	-	1	1367	c.585T>A	c.(583-585)gtT>gtA	p.V195V	ISG20L2_ENST00000368219.1_Silent_p.V195V|RRNAD1_ENST00000368216.4_5'Flank|RRNAD1_ENST00000524343.1_5'Flank|RRNAD1_ENST00000368218.4_5'Flank|ISG20L2_ENST00000472824.2_5'Flank	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	195	Exonuclease.				ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)	p.V195V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCAAGGAACTAACATGCCCCT	0.502											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V195V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T585A	1						.						187.0	148.0	161.0					1																	156696860		2203	4300	6503	154963484	SO:0001819	synonymous_variant	81875	exon1			AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.585T>A	1.37:g.156696860A>T		1780	154963484	NM_030980	D3DVC6|Q64KA2	Silent	SNP	ENST00000313146.6	37	CCDS1153.1																																																																																				0.502	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980	
INSRR	3645	broad.mit.edu	37	1	156819230	156819230	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:156819230C>T	ENST00000368195.3	-	6	1648	c.1252G>A	c.(1252-1254)Gac>Aac	p.D418N	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	418					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D418N(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTCTGGTTGTCCAGCACGTAG	0.632																																					p.D418N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1252A	1						.						71.0	71.0	71.0					1																	156819230		2203	4300	6503	155085854	SO:0001583	missense	3645	exon6			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1252G>A	1.37:g.156819230C>T	ENSP00000357178:p.Asp418Asn		155085854	NM_014215	O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	32	5.138733	0.94560	.	.	ENSG00000027644	ENST00000368195	T	0.79352	-1.26	4.77	3.86	0.44501	EGF receptor, L domain (1);	0.000000	0.48286	D	0.000188	D	0.83036	0.5167	.	.	.	0.48452	D	0.99965	D	0.89917	1.0	D	0.71414	0.973	D	0.85319	0.1083	9	0.66056	D	0.02	.	11.9488	0.52944	0.0:0.9146:0.0:0.0854	.	418	P14616	INSRR_HUMAN	N	418	ENSP00000357178:D418N	ENSP00000357178:D418N	D	-	1	0	INSRR	155085854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	1.246000	0.43901	0.561000	0.74099	GAC		0.632	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215	
MMP23B	8510	broad.mit.edu	37	1	1572451	1572451	+	IGR	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:1572451T>C	ENST00000356026.5	+	0	1326				CDK11B_ENST00000340677.5_Missense_Mutation_p.I552V|CDK11B_ENST00000341832.6_Missense_Mutation_p.I518V|CDK11B_ENST00000407249.3_Missense_Mutation_p.I565V|CDK11B_ENST00000317673.7_Missense_Mutation_p.I563V			O75900	MMP23_HUMAN	matrix metallopeptidase 23B						proteolysis (GO:0006508)|reproduction (GO:0000003)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I565V(1)		large_intestine(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Marimastat(DB00786)	ACCTTGAGGATGCCGGCGTGG	0.652																																					p.I560V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1678G	1						.						72.0	87.0	82.0					1																	1572451		2093	4224	6317	1562314	SO:0001628	intergenic_variant	984	exon15				CCDS30559.1	1p36.3	2013-01-11	2005-08-08		ENSG00000189409	ENSG00000189409		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7171	protein-coding gene	gene with protein product	"""matrix metalloproteinase 22"", ""femalysin"", ""matrix metalloproteinase in the female reproductive tract"""	603321	"""matrix metalloproteinase 23B"""	MMP22		9740677, 9750192	Standard	XM_005244810		Approved	MIFR, MIFR-1	uc001agp.3	O75900	OTTHUMG00000074713		1.37:g.1572451T>C			1562314	NM_033486	A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	Missense_Mutation	SNP	ENST00000356026.5	37	CCDS30559.1																																																																																				0.652	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158492.2	NM_006983	
FCRL5	83416	broad.mit.edu	37	1	157504567	157504567	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:157504567C>G	ENST00000361835.3	-	8	1675	c.1518G>C	c.(1516-1518)caG>caC	p.Q506H	FCRL5_ENST00000368189.3_Missense_Mutation_p.Q506H|FCRL5_ENST00000368191.3_Missense_Mutation_p.Q421H|FCRL5_ENST00000356953.4_Missense_Mutation_p.Q506H|FCRL5_ENST00000368190.3_Missense_Mutation_p.Q506H	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	506	Ig-like C2-type 5.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.Q506H(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CATGATAAAACTGGTATAGGA	0.512																																					p.Q506H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1518C	1						.						60.0	59.0	59.0					1																	157504567		2203	4300	6503	155771191	SO:0001583	missense	83416	exon8			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1518G>C	1.37:g.157504567C>G	ENSP00000354691:p.Gln506His		155771191	NM_031281	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	7.306	0.613981	0.14066	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45	3.54	0.447	0.16608	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.16769	0.0403	L	0.61218	1.895	0.09310	N	1	P;D;D;D;P;D	0.69078	0.903;0.993;0.997;0.996;0.86;0.996	P;D;D;D;B;D	0.70016	0.814;0.916;0.967;0.942;0.198;0.914	T	0.05835	-1.0861	9	0.40728	T	0.16	.	6.1842	0.20488	0.0:0.6467:0.0:0.3533	.	537;421;506;506;506;506	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	H	506;506;506;421;506	ENSP00000354691:Q506H;ENSP00000349434:Q506H;ENSP00000357173:Q506H;ENSP00000357174:Q421H;ENSP00000357172:Q506H	ENSP00000349434:Q506H	Q	-	3	2	FCRL5	155771191	0.047000	0.20315	0.001000	0.08648	0.041000	0.13682	0.099000	0.15210	-0.005000	0.14395	0.313000	0.20887	CAG		0.512	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281	
OR6K3	391114	broad.mit.edu	37	1	158687400	158687400	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:158687400C>T	ENST00000368146.1	-	1	553	c.554G>A	c.(553-555)tGt>tAt	p.C185Y	OR6K3_ENST00000368145.1_Missense_Mutation_p.C169Y			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C185Y(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GTTGGGCCCACAGAAAGGCAG	0.512																																					p.C169Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G506A	1						.						131.0	127.0	128.0					1																	158687400		2203	4300	6503	156954024	SO:0001583	missense	391114	exon1			AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.554G>A	1.37:g.158687400C>T	ENSP00000357128:p.Cys185Tyr		156954024	NM_001005327	Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37		.	.	.	.	.	.	.	.	.	.	C	16.15	3.040736	0.55003	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.00245	8.45;8.45	4.04	3.12	0.35913	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00356	0.0011	M	0.91872	3.25	0.33153	D	0.545914	D	0.89917	1.0	D	0.97110	1.0	T	0.25813	-1.0121	9	0.87932	D	0	.	10.9385	0.47260	0.0:0.9044:0.0:0.0956	.	185	Q8NGY3	OR6K3_HUMAN	Y	169;185	ENSP00000357127:C169Y;ENSP00000357128:C185Y	ENSP00000357127:C169Y	C	-	2	0	OR6K3	156954024	0.984000	0.35163	0.996000	0.52242	0.926000	0.56050	2.926000	0.48892	1.030000	0.39839	0.411000	0.27672	TGT		0.512	OR6K3-201	KNOWN	basic	protein_coding	protein_coding			
DDI2	84301	broad.mit.edu	37	1	15956855	15956855	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:15956855C>T	ENST00000480945.1	+	3	475	c.304C>T	c.(304-306)Cct>Tct	p.P102S		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	102							aspartic-type endopeptidase activity (GO:0004190)	p.P102S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TATAGCTGTGCCTGGCACATC	0.468																																					p.P102S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C304T	1						.						84.0	85.0	85.0					1																	15956855		2203	4300	6503	15829442	SO:0001583	missense	84301	exon3				CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"""				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.304C>T	1.37:g.15956855C>T	ENSP00000417748:p.Pro102Ser		15829442	NM_032341	A8KAE1|Q7RTZ0|Q9BRT1	Missense_Mutation	SNP	ENST00000480945.1	37	CCDS30607.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150415	0.94645	.	.	ENSG00000197312	ENST00000480945	T	0.32272	1.46	5.9	5.9	0.94986	.	0.000000	0.85682	U	0.000000	T	0.61937	0.2387	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61797	-0.6989	10	0.49607	T	0.09	-14.83	19.873	0.96856	0.0:1.0:0.0:0.0	.	102	Q5TDH0	DDI2_HUMAN	S	102	ENSP00000417748:P102S	ENSP00000417748:P102S	P	+	1	0	DDI2	15829442	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.971000	0.76105	2.802000	0.96397	0.650000	0.86243	CCT		0.468	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1	NM_032341	
IGSF9	57549	broad.mit.edu	37	1	159901322	159901322	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:159901322C>T	ENST00000368094.1	-	12	1631	c.1434G>A	c.(1432-1434)aaG>aaA	p.K478K	IGSF9_ENST00000361509.3_Silent_p.K462K|IGSF9_ENST00000493195.1_Intron	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	478	Ig-like 5.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.K462K(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CGTGGGCCTCCTTGGTCAATG	0.647																																					p.K478K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1434A	1						.						53.0	50.0	51.0					1																	159901322		2203	4300	6503	158167946	SO:0001819	synonymous_variant	57549	exon12			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1434G>A	1.37:g.159901322C>T			158167946	NM_001135050		Silent	SNP	ENST00000368094.1	37	CCDS44254.1																																																																																				0.647	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789	
NCSTN	23385	broad.mit.edu	37	1	160324013	160324013	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:160324013C>T	ENST00000294785.5	+	11	1410	c.1285C>T	c.(1285-1287)Cga>Tga	p.R429*	NCSTN_ENST00000368063.1_Nonsense_Mutation_p.R409*|NCSTN_ENST00000368065.4_Nonsense_Mutation_p.R171*|NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000535857.1_Nonsense_Mutation_p.R291*|NCSTN_ENST00000392212.4_Nonsense_Mutation_p.R409*	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	429					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)	p.R429*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCCCTGCAGCGATTTCTTCG	0.542																																					p.R429X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1285T	1						.						179.0	141.0	154.0					1																	160324013		2203	4300	6503	158590637	SO:0001587	stop_gained	23385	exon11			AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1285C>T	1.37:g.160324013C>T	ENSP00000294785:p.Arg429*		158590637	NM_015331	Q5T207|Q5T208|Q86VV5	Nonsense_Mutation	SNP	ENST00000294785.5	37	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766625	0.90020	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000535857;ENST00000368067;ENST00000392212;ENST00000368065;ENST00000424754	.	.	.	5.3	3.2	0.36748	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7946	14.608	0.68495	0.2752:0.7248:0.0:0.0	.	.	.	.	X	429;409;291;136;409;171;173	.	ENSP00000294785:R429X	R	+	1	2	NCSTN	158590637	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.805000	0.47939	1.234000	0.43709	0.655000	0.94253	CGA		0.542	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331	
F11R	50848	broad.mit.edu	37	1	160970914	160970914	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:160970914A>G	ENST00000368026.6	-	3	411	c.137T>C	c.(136-138)gTg>gCg	p.V46A	F11R_ENST00000537746.1_Missense_Mutation_p.V46A|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	46	Ig-like V-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.V46A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			GGACAACTTCACAGCTGCAGA	0.522																																					p.V46A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T137C	1						.						77.0	78.0	77.0					1																	160970914		2203	4300	6503	159237538	SO:0001583	missense	50848	exon3			AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14685	protein-coding gene	gene with protein product		605721	"""junctional adhesion molecule 1"""	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.137T>C	1.37:g.160970914A>G	ENSP00000357005:p.Val46Ala		159237538	NM_016946	B7Z941	Missense_Mutation	SNP	ENST00000368026.6	37	CCDS1213.1	.	.	.	.	.	.	.	.	.	.	A	7.453	0.643181	0.14451	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000537746;ENST00000436182	T;T;T	0.71461	-0.57;0.44;-0.57	4.32	-1.41	0.08941	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.716165	0.12625	N	0.452711	T	0.21145	0.0509	N	0.11818	0.18	0.09310	N	1	B;B;B;B;B	0.18013	0.003;0.017;0.025;0.025;0.025	B;B;B;B;B	0.28916	0.018;0.014;0.036;0.036;0.096	T	0.41698	-0.9494	10	0.02654	T	1	.	7.6953	0.28592	0.7099:0.0:0.2901:0.0	.	50;46;46;46;46	B7Z5W1;B7Z941;Q6FIB4;Q9Y624;D3DVF0	.;.;.;JAM1_HUMAN;.	A	46;46;46;46;50	ENSP00000357005:V46A;ENSP00000440812:V46A;ENSP00000394809:V50A	ENSP00000289779:V46A	V	-	2	0	F11R	159237538	0.113000	0.22115	0.002000	0.10522	0.380000	0.30137	0.167000	0.16602	-0.109000	0.12044	0.460000	0.39030	GTG		0.522	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	NM_016946	
FCRLB	127943	broad.mit.edu	37	1	161695731	161695731	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:161695731C>T	ENST00000367948.2	+	6	643	c.428C>T	c.(427-429)gCc>gTc	p.A143V	FCRLB_ENST00000367944.3_Missense_Mutation_p.A136V|FCRLB_ENST00000367945.1_Missense_Mutation_p.A136V|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367946.3_Missense_Mutation_p.A143V|FCRLB_ENST00000392158.1_Missense_Mutation_p.A143V|FCRLB_ENST00000336830.5_Missense_Mutation_p.A143V			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	143	Ig-like C2-type 2.				negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)		p.A143V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GACGGCCAGGCCGTGCGCTAC	0.647											OREG0013944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A143V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C428T	1						.						71.0	62.0	65.0					1																	161695731		2203	4300	6503	159962355	SO:0001583	missense	127943	exon4			AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.428C>T	1.37:g.161695731C>T	ENSP00000356925:p.Ala143Val	1818	159962355	NM_001002901	A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	ENST00000367948.2	37	CCDS30927.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660489	0.47572	.	.	ENSG00000162746	ENST00000367948;ENST00000367946;ENST00000367945;ENST00000336830;ENST00000367944;ENST00000392158	T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65	4.51	3.35	0.38373	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.767335	0.11409	N	0.567014	T	0.02156	0.0067	N	0.11651	0.15	0.09310	N	1	B;B;B;B;B	0.21147	0.052;0.011;0.041;0.041;0.003	B;B;B;B;B	0.20184	0.018;0.007;0.016;0.028;0.018	T	0.44682	-0.9312	10	0.18276	T	0.48	.	8.3693	0.32406	0.0:0.8681:0.0:0.1319	.	136;136;143;143;143	Q6BAA4-3;Q6BAA4-5;Q6BAA4-2;Q6BAA4-4;Q6BAA4	.;.;.;.;FCRLB_HUMAN	V	143;143;136;143;136;143	ENSP00000356925:A143V;ENSP00000356923:A143V;ENSP00000356922:A136V;ENSP00000338598:A143V;ENSP00000356921:A136V;ENSP00000375999:A143V	ENSP00000338598:A143V	A	+	2	0	FCRLB	159962355	0.935000	0.31712	0.835000	0.33067	0.996000	0.88848	1.277000	0.33167	2.038000	0.60285	0.455000	0.32223	GCC		0.647	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378	
OLFML2B	25903	broad.mit.edu	37	1	161953999	161953999	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:161953999G>A	ENST00000294794.3	-	8	2142	c.1719C>T	c.(1717-1719)ggC>ggT	p.G573G	OLFML2B_ENST00000367940.2_Silent_p.G574G|OLFML2B_ENST00000367938.1_Silent_p.G56G	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	573	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.G573G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			AGTAGAAGGCGCCATTGTATA	0.582																																					p.G573G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1719T	1						.						100.0	84.0	90.0					1																	161953999		2203	4300	6503	160220623	SO:0001819	synonymous_variant	25903	exon8			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1719C>T	1.37:g.161953999G>A			160220623	NM_015441	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	CCDS1236.1																																																																																				0.582	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441	
NOS1AP	9722	broad.mit.edu	37	1	162325081	162325081	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:162325081A>G	ENST00000361897.5	+	7	1102	c.700A>G	c.(700-702)Agc>Ggc	p.S234G	NOS1AP_ENST00000530878.1_Missense_Mutation_p.S229G	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	234					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)	p.S234G(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CCTGGAATTCAGCCGAGGTGT	0.582																																					p.S229G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A685G	1						.						130.0	115.0	120.0					1																	162325081		2203	4300	6503	160591705	SO:0001583	missense	9722	exon7			AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.700A>G	1.37:g.162325081A>G	ENSP00000355133:p.Ser234Gly		160591705	NM_001164757	B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.152535	0.57259	.	.	ENSG00000198929	ENST00000530878;ENST00000361897	T;T	0.78481	-1.17;-1.18	5.41	5.41	0.78517	.	0.167852	0.64402	D	0.000004	T	0.59252	0.2180	L	0.53249	1.67	.	.	.	P;B;B	0.34662	0.462;0.001;0.001	B;B;B	0.28553	0.091;0.001;0.001	T	0.63712	-0.6575	9	0.31617	T	0.26	.	14.2772	0.66187	1.0:0.0:0.0:0.0	.	229;229;234	E9PSG0;B7ZLF5;O75052	.;.;CAPON_HUMAN	G	229;234	ENSP00000431586:S229G;ENSP00000355133:S234G	ENSP00000355133:S234G	S	+	1	0	NOS1AP	160591705	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	7.023000	0.76437	2.042000	0.60477	0.533000	0.62120	AGC		0.582	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697	
RXRG	6258	broad.mit.edu	37	1	165398130	165398130	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:165398130G>A	ENST00000359842.5	-	2	425	c.123C>T	c.(121-123)agC>agT	p.S41S		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	41	Modulating. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S41S(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	AGCTGGGGTGGCTGTCCATTG	0.577																																					p.S41S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C123T	1						.						63.0	57.0	59.0					1																	165398130		2203	4300	6503	163664754	SO:0001819	synonymous_variant	6258	exon2			U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.123C>T	1.37:g.165398130G>A			163664754	NM_006917	A6NIP1|Q6IBU7	Silent	SNP	ENST00000359842.5	37	CCDS1248.1																																																																																				0.577	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917	
NME7	29922	broad.mit.edu	37	1	169293675	169293675	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:169293675G>A	ENST00000367811.3	-	2	323	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C	RP4-800F24.1_ENST00000432081.1_RNA|NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_De_novo_Start_OutOfFrame	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	23	DM10. {ECO:0000255|PROSITE- ProRule:PRU00665}.				brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)	p.R23C(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					AGCTCATAACGTCGAAGAAGT	0.378																																					p.R23C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C67T	1						.						115.0	106.0	109.0					1																	169293675		2203	4300	6503	167560299	SO:0001583	missense	29922	exon2			AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.67C>T	1.37:g.169293675G>A	ENSP00000356785:p.Arg23Cys		167560299	NM_013330	A8K3T6|A8MY09|B3KSW9|Q5TGZ4	De_novo_Start_OutOfFrame	SNP	ENST00000367811.3	37	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185773	0.57909	.	.	ENSG00000143156	ENST00000367811	T	0.56941	0.43	5.53	4.59	0.56863	Uncharacterised domain DM10 (2);	0.051899	0.85682	D	0.000000	T	0.45013	0.1321	M	0.84511	2.7	0.38857	D	0.956399	P;P	0.38800	0.648;0.508	B;B	0.32624	0.149;0.055	T	0.63409	-0.6644	9	0.72032	D	0.01	-15.0306	15.3791	0.74637	0.0:0.0:0.86:0.14	.	27;23	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	C	23	ENSP00000356785:R23C	ENSP00000356785:R23C	R	-	1	0	NME7	167560299	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.288000	0.59007	2.613000	0.88420	0.591000	0.81541	CGT		0.378	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330	
F5	2153	broad.mit.edu	37	1	169487691	169487691	+	Missense_Mutation	SNP	G	G	A	rs118203910		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:169487691G>A	ENST00000367797.3	-	23	6505	c.6304C>T	c.(6304-6306)Cgt>Tgt	p.R2102C	F5_ENST00000367796.3_Missense_Mutation_p.R2107C	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2102	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.		R -> C (in FA5D; impairs both factor V secretion and activity). {ECO:0000269|PubMed:12393490}.|R -> H (in THPH2). {ECO:0000269|PubMed:11858490}.		blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.R2102C(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GCATTCAGACGGGCACGGAAG	0.488																																					p.R2102C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6304T	1	GRCh37	CM030037	F5	M	rs118203910	.						133.0	132.0	132.0					1																	169487691		2203	4300	6503	167754315	SO:0001583	missense	2153	exon23			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6304C>T	1.37:g.169487691G>A	ENSP00000356771:p.Arg2102Cys		167754315	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288255	0.80803	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98550	-4.99;-4.99	5.67	4.73	0.59995	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99281	0.9749	H	0.97465	4.01	0.44976	D	0.997996	D	0.89917	1.0	D	0.91635	0.999	D	0.98715	1.0706	9	0.87932	D	0	-14.6482	13.7675	0.63004	0.0:0.0:0.8461:0.1539	.	2102	P12259	FA5_HUMAN	C	2102;2107	ENSP00000356771:R2102C;ENSP00000356770:R2107C	ENSP00000356770:R2107C	R	-	1	0	F5	167754315	1.000000	0.71417	0.963000	0.40424	0.924000	0.55760	6.608000	0.74168	1.347000	0.45714	0.591000	0.81541	CGT		0.488	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
ATP13A2	23400	broad.mit.edu	37	1	17332216	17332216	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:17332216G>C	ENST00000326735.8	-	2	101	c.68C>G	c.(67-69)aCa>aGa	p.T23R	ATP13A2_ENST00000341676.5_Missense_Mutation_p.T23R|ATP13A2_ENST00000452699.1_Missense_Mutation_p.T23R|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2	23					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.T23R(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)		ATCTATTGATGTCCCTATCGT	0.582																																					p.T23R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C68G	1						.						85.0	76.0	79.0					1																	17332216		2203	4300	6503	17204803	SO:0001583	missense	23400	exon2			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.68C>G	1.37:g.17332216G>C	ENSP00000327214:p.Thr23Arg		17204803	NM_022089	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	CCDS175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.61|18.61	3.661545|3.661545	0.67700|0.67700	.|.	.|.	ENSG00000159363|ENSG00000159363	ENST00000509619|ENST00000326735;ENST00000341676;ENST00000452699	.|D;D;D	.|0.93307	.|-2.88;-3.2;-2.9	4.13|4.13	4.13|4.13	0.48395|0.48395	.|.	.|0.697755	.|0.13918	.|N	.|0.353786	D|D	0.88303|0.88303	0.6400|0.6400	L|L	0.29908|0.29908	0.895|0.895	0.32668|0.32668	N|N	0.517142|0.517142	.|P;P;P	.|0.39964	.|0.697;0.567;0.61	.|B;B;B	.|0.37422	.|0.205;0.249;0.193	D|D	0.89600|0.89600	0.3834|0.3834	5|10	.|0.45353	.|T	.|0.12	-1.3815|-1.3815	12.1807|12.1807	0.54210|0.54210	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|23;23;23	.|Q5JXY1;Q6S9Z9;Q9NQ11	.|.;.;AT132_HUMAN	E|R	15|23	.|ENSP00000327214:T23R;ENSP00000341115:T23R;ENSP00000413307:T23R	.|ENSP00000327214:T23R	D|T	-|-	3|2	2|0	ATP13A2|ATP13A2	17204803|17204803	0.999000|0.999000	0.42202|0.42202	0.879000|0.879000	0.34478|0.34478	0.918000|0.918000	0.54935|0.54935	4.184000|4.184000	0.58323|0.58323	2.592000|2.592000	0.87571|0.87571	0.591000|0.591000	0.81541|0.81541	GAC|ACA		0.582	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089	
KIFAP3	22920	broad.mit.edu	37	1	169890855	169890855	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:169890855G>A	ENST00000361580.2	-	20	2568	c.2341C>T	c.(2341-2343)Cgc>Tgc	p.R781C	KIFAP3_ENST00000367765.1_Missense_Mutation_p.R741C|KIFAP3_ENST00000540905.1_Missense_Mutation_p.R483C|KIFAP3_ENST00000538366.1_Missense_Mutation_p.R703C|KIFAP3_ENST00000367767.1_Missense_Mutation_p.R737C	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	781					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)	p.R781C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCATCAGGGCGGAATCCATAT	0.413																																					p.R781C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2341T	1						.						112.0	96.0	102.0					1																	169890855		2203	4300	6503	168157479	SO:0001583	missense	22920	exon20			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.2341C>T	1.37:g.169890855G>A	ENSP00000354560:p.Arg781Cys		168157479	NM_014970	B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626257	0.87560	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.55588	0.59;0.59;0.59;0.55;0.51	5.81	5.81	0.92471	.	0.051474	0.85682	D	0.000000	T	0.52500	0.1738	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.47674	-0.9099	9	.	.	.	-3.303	17.8515	0.88748	0.0:0.0:1.0:0.0	.	781	Q92845	KIFA3_HUMAN	C	781;741;737;483;703	ENSP00000354560:R781C;ENSP00000356739:R741C;ENSP00000356741:R737C;ENSP00000442712:R483C;ENSP00000444622:R703C	.	R	-	1	0	KIFAP3	168157479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.816000	0.75247	2.736000	0.93811	0.655000	0.94253	CGC		0.413	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970	
PADI6	353238	broad.mit.edu	37	1	17725321	17725321	+	RNA	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:17725321C>T	ENST00000434762.2	+	0	1880							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.A609V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGGTCCTTTGCGAGGCCATAC	0.612																																					p.C610C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1830T	1						.						87.0	96.0	93.0					1																	17725321		2094	4206	6300	17597908			353238	exon15			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17725321C>T			17597908	NM_207421	Q330K5|Q70SX3	Missense_Mutation	SNP	ENST00000434762.2	37																																																																																					0.612	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421	
RCC2	55920	broad.mit.edu	37	1	17739585	17739585	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:17739585G>A	ENST00000375436.4	-	10	1484	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	RCC2_ENST00000375433.3_Missense_Mutation_p.R433W|AC004824.1_ENST00000583469.1_RNA	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	433					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)	p.R433W(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GCCAGGCTCCGGATTCTCCAG	0.577																																					p.R433W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1297T	1						.						43.0	41.0	41.0					1																	17739585		2203	4300	6503	17612172	SO:0001583	missense	55920	exon9				CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.1297C>T	1.37:g.17739585G>A	ENSP00000364585:p.Arg433Trp		17612172	NM_001136204	Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	ENST00000375436.4	37	CCDS181.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888658	0.91814	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	T;T	0.80738	-1.41;-1.41	5.24	4.27	0.50696	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.88089	0.6343	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.88623	0.3164	10	0.59425	D	0.04	-23.6083	14.5108	0.67787	0.0:0.0:0.8535:0.1465	.	433	Q9P258	RCC2_HUMAN	W	433	ENSP00000364585:R433W;ENSP00000364582:R433W	ENSP00000364582:R433W	R	-	1	2	RCC2	17612172	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.636000	0.67848	2.615000	0.88500	0.655000	0.94253	CGG		0.577	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715	
TNR	7143	broad.mit.edu	37	1	175365829	175365829	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:175365829A>G	ENST00000367674.2	-	5	1799	c.1091T>C	c.(1090-1092)cTg>cCg	p.L364P	TNR_ENST00000263525.2_Missense_Mutation_p.L364P			Q92752	TENR_HUMAN	tenascin R	364	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.L364P(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GAGGCCCCCCAGGGCCGTCGG	0.607																																					p.L364P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1091C	1						.						63.0	63.0	63.0					1																	175365829		2203	4300	6503	173632452	SO:0001583	missense	7143	exon5			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1091T>C	1.37:g.175365829A>G	ENSP00000356646:p.Leu364Pro		173632452	NM_003285	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	A	11.25	1.584258	0.28268	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.57273	0.41;0.41	5.96	-0.711	0.11230	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.232048	0.35772	N	0.002990	T	0.16599	0.0399	N	0.00608	-1.33	0.50171	D	0.999853	B	0.02656	0.0	B	0.10450	0.005	T	0.03221	-1.1059	10	0.30854	T	0.27	.	6.6315	0.22859	0.2353:0.3328:0.4319:0.0	.	364	Q92752	TENR_HUMAN	P	364	ENSP00000356646:L364P;ENSP00000263525:L364P	ENSP00000263525:L364P	L	-	2	0	TNR	173632452	0.933000	0.31639	0.993000	0.49108	0.991000	0.79684	0.420000	0.21263	-0.131000	0.11578	0.533000	0.62120	CTG		0.607	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
SEC16B	89866	broad.mit.edu	37	1	177928011	177928011	+	Silent	SNP	C	C	T	rs369591529		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:177928011C>T	ENST00000308284.6	-	9	1187	c.1098G>A	c.(1096-1098)ctG>ctA	p.L366L	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Silent_p.L367L	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	366					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)		p.L367L(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AGAGCTGCCACAGTAGAGCTG	0.483													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18116	0.0		0.0	False		,,,				2504	0.0				p.L366L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1098A	1						.	C		0,3860		0,0,1930	59.0	63.0	62.0		1098	-5.2	0.4	1		62	1,8275		0,1,4137	no	coding-synonymous	SEC16B	NM_033127.2		0,1,6067	TT,TC,CC		0.0121,0.0,0.0082		366/1061	177928011	1,12135	1930	4138	6068	176194634	SO:0001819	synonymous_variant	89866	exon9			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1098G>A	1.37:g.177928011C>T			176194634	NM_033127	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.683281	0.29872	0.0	1.21E-4	ENSG00000120341	ENST00000527976	.	.	.	5.08	-5.16	0.02857	.	.	.	.	.	T	0.37839	0.1018	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40776	-0.9545	4	.	.	.	-13.7441	2.2499	0.04041	0.3417:0.147:0.3648:0.1464	.	.	.	.	M	10	.	.	V	-	1	0	AL359075.1	176194634	0.973000	0.33851	0.430000	0.26722	0.935000	0.57460	0.069000	0.14552	-0.621000	0.05633	0.655000	0.94253	GTG		0.483	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127	
CACNA1E	777	broad.mit.edu	37	1	181765941	181765941	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:181765941C>T	ENST00000367573.2	+	47	6346	c.6346C>T	c.(6346-6348)Cgc>Tgc	p.R2116C	CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1680C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2097C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2073C|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R2054C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2067C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R2005C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2116					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.R2073C(2)|p.R2116C(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						GTCCCCAGAGCGCCGTCAATC	0.602																																					p.R2073C												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.C6217T	1						.						25.0	28.0	27.0					1																	181765941		2020	4185	6205	180032564	SO:0001583	missense	777	exon46			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6346C>T	1.37:g.181765941C>T	ENSP00000356545:p.Arg2116Cys		180032564	NM_000721	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114487	0.77210	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96967	-4.11;-4.11;-4.04;-4.11;-4.19;-4.04;-4.04	5.91	5.0	0.66597	.	0.410282	0.28036	N	0.016858	D	0.96528	0.8867	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.72625	0.978;0.855	D	0.97090	0.9790	10	0.62326	D	0.03	.	14.9545	0.71101	0.0:0.9312:0.0:0.0688	.	2054;2073	Q15878-2;Q15878-3	.;.	C	2073;2054;2067;2005;1680;2097;2116	ENSP00000356542:R2073C;ENSP00000434814:R2054C;ENSP00000350183:R2067C;ENSP00000351101:R2005C;ENSP00000356539:R1680C;ENSP00000353222:R2097C;ENSP00000356545:R2116C	ENSP00000350183:R2067C	R	+	1	0	CACNA1E	180032564	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	3.305000	0.51873	1.506000	0.48736	-0.137000	0.14449	CGC		0.602	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
CRB1	23418	broad.mit.edu	37	1	197390428	197390428	+	Silent	SNP	C	C	T	rs35193230	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:197390428C>T	ENST00000367400.3	+	6	1605	c.1470C>T	c.(1468-1470)ggC>ggT	p.G490G	CRB1_ENST00000367399.2_Silent_p.G378G|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000535699.1_Silent_p.G421G|CRB1_ENST00000538660.1_Silent_p.G490G|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000543483.1_Silent_p.G189G|CRB1_ENST00000476483.1_3'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	490	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G490G(3)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CATTTGAGGGCGATGGCTTCC	0.517													C|||	12	0.00239617	0.0076	0.0014	5008	,	,		19803	0.0		0.0	False		,,,				2504	0.001				p.G490G												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C1470T	1						.	C	,	35,4371	40.8+/-73.8	0,35,2168	104.0	93.0	97.0		1134,1470	-0.9	0.0	1	dbSNP_126	97	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	CRB1	NM_001193640.1,NM_201253.2	,	0,37,6466	TT,TC,CC		0.0233,0.7944,0.2845	,	378/1295,490/1407	197390428	37,12969	2203	4300	6503	195657051	SO:0001819	synonymous_variant	23418	exon6				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1470C>T	1.37:g.197390428C>T			195657051	NM_201253	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	CCDS1390.1																																																																																				0.517	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	
PRKCZ	5590	broad.mit.edu	37	1	1986919	1986919	+	IGR	SNP	C	C	T	rs573507359		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:1986919C>T								RP11-547D24.3 (5410 upstream) : PRKCZ (17981 downstream)														p.F37F(2)									CCACGACCTTCGAGGAGCTCT	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16639	0.0		0.0	False		,,,				2504	0.0				p.F37F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C111T	1						.						80.0	57.0	65.0					1																	1986919		2203	4300	6503	1976779	SO:0001628	intergenic_variant	5590	exon2																															1.37:g.1986919C>T			1976779	NM_002744		Silent	SNP		37																																																																																				0	0.557								
PTPRC	5788	broad.mit.edu	37	1	198703511	198703511	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:198703511C>T	ENST00000367376.2	+	22	2399	c.2228C>T	c.(2227-2229)gCc>gTc	p.A743V	PTPRC_ENST00000594404.1_Missense_Mutation_p.A582V|PTPRC_ENST00000348564.6_Missense_Mutation_p.A584V|PTPRC_ENST00000352140.3_Missense_Mutation_p.A695V|PTPRC_ENST00000442510.2_Missense_Mutation_p.A745V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	743	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A743V(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAACAGAAAGCCACAGTTATT	0.393																																					p.A582V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1745T	1						.						294.0	303.0	300.0					1																	198703511		2203	4300	6503	196970134	SO:0001583	missense	5788	exon19			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2228C>T	1.37:g.198703511C>T	ENSP00000356346:p.Ala743Val		196970134	NM_080921	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	C	20.1	3.935764	0.73442	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000442510;ENST00000367367;ENST00000348564	T	0.80653	-1.4	5.73	4.72	0.59763	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.147688	0.31392	N	0.007734	T	0.56031	0.1958	N	0.01109	-1.01	0.43073	D	0.994717	D;P;B;P	0.53151	0.958;0.537;0.394;0.537	B;B;B;B	0.42245	0.324;0.381;0.291;0.381	T	0.70371	-0.4890	10	0.56958	D	0.05	.	13.2313	0.59945	0.0:0.8956:0.0:0.1044	.	679;584;695;743	F5GXZ3;B1ALS3;E9PC28;P08575	.;.;.;PTPRC_HUMAN	V	745;679;695;695;743;677;582	ENSP00000193532:A695V	ENSP00000306782:A582V	A	+	2	0	PTPRC	196970134	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.613000	0.46351	2.698000	0.92095	0.591000	0.81541	GCC		0.393	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
IPO9	55705	broad.mit.edu	37	1	201817695	201817695	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:201817695G>A	ENST00000361565.4	+	4	556	c.487G>A	c.(487-489)Gtc>Atc	p.V163I	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	163					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)	p.V163I(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CTTAAATGCCGTCCATGGAGC	0.527																																					p.V163I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G487A	1						.						135.0	109.0	118.0					1																	201817695		2203	4300	6503	200084318	SO:0001583	missense	55705	exon4			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.487G>A	1.37:g.201817695G>A	ENSP00000354742:p.Val163Ile		200084318	NM_018085	B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012865	0.54468	.	.	ENSG00000198700	ENST00000361565	T	0.66280	-0.2	6.02	4.13	0.48395	Armadillo-like helical (1);Armadillo-type fold (1);	0.105418	0.64402	D	0.000004	T	0.40040	0.1101	L	0.27053	0.805	0.58432	D	0.999991	P	0.49185	0.92	B	0.36808	0.233	T	0.20571	-1.0271	10	0.12430	T	0.62	0.3783	9.2486	0.37541	0.0756:0.0:0.7789:0.1456	.	163	Q96P70	IPO9_HUMAN	I	163	ENSP00000354742:V163I	ENSP00000354742:V163I	V	+	1	0	IPO9	200084318	1.000000	0.71417	0.632000	0.29296	0.970000	0.65996	9.757000	0.98924	0.849000	0.35215	-0.142000	0.14014	GTC		0.527	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085	
PRELP	5549	broad.mit.edu	37	1	203453089	203453089	+	Silent	SNP	C	C	T	rs370979066		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:203453089C>T	ENST00000343110.2	+	2	904	c.777C>T	c.(775-777)aaC>aaT	p.N259N		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	259					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.N259N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CCATCCCTAACGGATACTTCA	0.507																																					p.N259N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C777T	1						.	C	,	2,4404	4.2+/-10.8	0,2,2201	121.0	122.0	122.0		777,777	-9.5	0.0	1		122	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PRELP	NM_002725.3,NM_201348.1	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	259/383,259/383	203453089	2,13004	2203	4300	6503	201719712	SO:0001819	synonymous_variant	5549	exon2			BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.777C>T	1.37:g.203453089C>T			201719712	NM_002725	Q6FG38	Silent	SNP	ENST00000343110.2	37	CCDS1438.1																																																																																				0.507	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725	
DYRK3	8444	broad.mit.edu	37	1	206821067	206821067	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:206821067C>T	ENST00000367109.2	+	3	692	c.524C>T	c.(523-525)gCc>gTc	p.A175V	DYRK3_ENST00000367106.1_Missense_Mutation_p.A155V|DYRK3_ENST00000367108.3_Missense_Mutation_p.A155V|DYRK3_ENST00000489878.1_Intron	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	175					erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.A175V(1)|p.A140V(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GGTCCAAATGCCAAGAAAAGA	0.408																																					p.A175V	Melanoma(164;427 2622 26826 51707)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C524T	1						.						125.0	123.0	124.0					1																	206821067		2203	4300	6503	204887690	SO:0001583	missense	8444	exon3			Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.524C>T	1.37:g.206821067C>T	ENSP00000356076:p.Ala175Val		204887690	NM_003582	D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317654	0.81469	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000441486;ENST00000367106	T;T;T;T	0.71341	-0.56;-0.54;2.58;-0.54	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.85097	0.5619	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.972;0.995	D	0.86432	0.1761	10	0.72032	D	0.01	.	18.1916	0.89808	0.0:1.0:0.0:0.0	.	175;155	O43781;O43781-2	DYRK3_HUMAN;.	V	175;155;155;155	ENSP00000356076:A175V;ENSP00000356075:A155V;ENSP00000410187:A155V;ENSP00000356073:A155V	ENSP00000356073:A155V	A	+	2	0	DYRK3	204887690	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.623000	0.83113	2.781000	0.95711	0.579000	0.79373	GCC		0.408	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582	
EIF4G3	8672	broad.mit.edu	37	1	21187006	21187006	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:21187006T>C	ENST00000264211.8	-	18	3142	c.2948A>G	c.(2947-2949)aAt>aGt	p.N983S	EIF4G3_ENST00000537738.1_Missense_Mutation_p.N473S|EIF4G3_ENST00000374935.3_Missense_Mutation_p.N703S|EIF4G3_ENST00000536266.1_Missense_Mutation_p.N587S|EIF4G3_ENST00000374937.3_Missense_Mutation_p.N989S|EIF4G3_ENST00000400422.1_Missense_Mutation_p.N983S|EIF4G3_ENST00000602326.1_Missense_Mutation_p.N989S	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	983	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.N989S(1)|p.N983S(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGATACCCAATTGCACTATAA	0.328																																					p.N983S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2948G	1						.						126.0	112.0	117.0					1																	21187006		2203	4300	6503	21059593	SO:0001583	missense	8672	exon19			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2948A>G	1.37:g.21187006T>C	ENSP00000264211:p.Asn983Ser		21059593	NM_003760	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	CCDS214.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.074650	0.55646	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8	5.51	5.51	0.81932	MIF4G-like, type 3 (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.097154	0.64402	D	0.000001	T	0.36331	0.0963	M	0.62266	1.93	0.80722	D	1	D;P;B;P;B	0.54964	0.969;0.688;0.173;0.896;0.03	P;P;B;P;B	0.48454	0.578;0.491;0.187;0.471;0.092	T	0.14144	-1.0483	10	0.48119	T	0.1	-12.4861	15.6296	0.76893	0.0:0.0:0.0:1.0	.	1178;703;587;989;983	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	S	983;1179;983;703;473;989;587	ENSP00000264211:N983S;ENSP00000383274:N983S;ENSP00000364071:N703S;ENSP00000442010:N473S;ENSP00000364073:N989S;ENSP00000444693:N587S	ENSP00000264211:N983S	N	-	2	0	EIF4G3	21059593	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	4.013000	0.57138	2.109000	0.64355	0.528000	0.53228	AAT		0.328	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760	
LAMB3	3914	broad.mit.edu	37	1	209790826	209790826	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:209790826G>A	ENST00000356082.4	-	21	3291	c.3157C>T	c.(3157-3159)Cag>Tag	p.Q1053*	LAMB3_ENST00000391911.1_Nonsense_Mutation_p.Q1053*|LAMB3_ENST00000367030.3_Nonsense_Mutation_p.Q1053*	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1053	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.Q1053*(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TCTGCCCCCTGCTGCCGGGCT	0.617																																					p.Q1053X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3157T	1						.						83.0	83.0	83.0					1																	209790826		2203	4300	6503	207857449	SO:0001587	stop_gained	3914	exon20			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.3157C>T	1.37:g.209790826G>A	ENSP00000348384:p.Gln1053*		207857449	NM_001017402	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Nonsense_Mutation	SNP	ENST00000356082.4	37	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	G	42	9.365317	0.99150	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000455193	.	.	.	5.77	4.84	0.62591	.	0.505318	0.22676	N	0.057007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	12.5442	0.56190	0.0:0.1745:0.8255:0.0	.	.	.	.	X	1053;1053;1053;122	.	ENSP00000348384:Q1053X	Q	-	1	0	LAMB3	207857449	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	1.978000	0.40598	1.415000	0.47037	0.456000	0.33151	CAG		0.617	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228	
KCTD3	51133	broad.mit.edu	37	1	215793422	215793422	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:215793422C>T	ENST00000259154.4	+	18	2204	c.1910C>T	c.(1909-1911)aCc>aTc	p.T637I	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	637					protein homooligomerization (GO:0051260)			p.T637I(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CACCATGATACCACCCATGAA	0.403																																					p.T637I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1910T	1						.						64.0	66.0	65.0					1																	215793422		2203	4298	6501	213860045	SO:0001583	missense	51133	exon18			AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.1910C>T	1.37:g.215793422C>T	ENSP00000259154:p.Thr637Ile		213860045	NM_016121	A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009770	0.54361	.	.	ENSG00000136636	ENST00000259154	T	0.38722	1.12	5.77	4.85	0.62838	.	0.144865	0.64402	D	0.000007	T	0.41166	0.1147	L	0.44542	1.39	0.42954	D	0.994381	B;B;B;B	0.26258	0.078;0.02;0.145;0.032	B;B;B;B	0.29785	0.054;0.023;0.107;0.021	T	0.36163	-0.9759	10	0.66056	D	0.02	-9.5392	16.7312	0.85435	0.0:0.8705:0.1295:0.0	.	387;389;635;637	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	I	637	ENSP00000259154:T637I	ENSP00000259154:T637I	T	+	2	0	KCTD3	213860045	1.000000	0.71417	0.371000	0.25978	0.991000	0.79684	6.890000	0.75633	1.411000	0.46957	0.655000	0.94253	ACC		0.403	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121	
USH2A	7399	broad.mit.edu	37	1	216424432	216424432	+	Silent	SNP	T	T	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:216424432T>G	ENST00000307340.3	-	12	2366	c.1980A>C	c.(1978-1980)ggA>ggC	p.G660G	USH2A_ENST00000366943.2_Silent_p.G660G|USH2A_ENST00000366942.3_Silent_p.G660G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	660	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.G660G(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATTACACTGTCCTCCAATCT	0.423										HNSCC(13;0.011)																											p.G660G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1980C	1						.						99.0	86.0	90.0					1																	216424432		2203	4300	6503	214491055	SO:0001819	synonymous_variant	7399	exon12			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1980A>C	1.37:g.216424432T>G			214491055	NM_206933	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.423	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
HLX	3142	broad.mit.edu	37	1	221055680	221055680	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:221055680C>T	ENST00000366903.6	+	3	2448	c.947C>T	c.(946-948)aCg>aTg	p.T316M	HLA-AS1_ENST00000552026.1_RNA|HLX_ENST00000549319.1_Missense_Mutation_p.T102M	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	316					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T316M(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CTGGGCCTCACGGACGCACAG	0.632																																					p.T316M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C947T	1						.						45.0	40.0	41.0					1																	221055680		2203	4300	6503	219122303	SO:0001583	missense	3142	exon3			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.947C>T	1.37:g.221055680C>T	ENSP00000355870:p.Thr316Met		219122303	NM_021958	B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787392	0.90367	.	.	ENSG00000136630	ENST00000366903;ENST00000427693;ENST00000549319	D;D;D	0.96459	-4.02;-4.02;-4.02	5.9	5.9	0.94986	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.093858	0.44097	D	0.000481	D	0.97707	0.9248	M	0.87682	2.9	0.58432	D	0.999999	P	0.46706	0.883	P	0.50405	0.64	D	0.98083	1.0405	10	0.87932	D	0	-18.9445	20.3436	0.98782	0.0:1.0:0.0:0.0	.	316	Q14774	HLX_HUMAN	M	316;49;102	ENSP00000355870:T316M;ENSP00000408248:T49M;ENSP00000449882:T102M	ENSP00000355870:T316M	T	+	2	0	HLX	219122303	1.000000	0.71417	0.967000	0.41034	0.594000	0.36715	6.072000	0.71238	2.821000	0.97095	0.555000	0.69702	ACG		0.632	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958	
CELA3A	10136	broad.mit.edu	37	1	22333867	22333867	+	Splice_Site	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:22333867C>T	ENST00000290122.3	+	6	520	c.501C>T	c.(499-501)acC>acT	p.T167T		NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	167	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)	p.T167T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCTTGCAGCCAATGGGCCAC	0.602																																					p.T167T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C501T	1						.						38.0	41.0	40.0					1																	22333867		2197	4300	6497	22206454	SO:0001630	splice_region_variant	10136	exon6			D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.500-1C>T	1.37:g.22333867C>T			22206454	NM_005747	B1AQ53|Q9BRW4	Silent	SNP	ENST00000290122.3	37	CCDS220.1																																																																																				0.602	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747	Silent
TP53BP2	7159	broad.mit.edu	37	1	223986098	223986098	+	Silent	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:223986098C>A	ENST00000343537.7	-	12	2058	c.1767G>T	c.(1765-1767)cgG>cgT	p.R589R	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000391878.2_Silent_p.R460R	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	583					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)	p.R460R(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GAGTAAAGGGCCGGACGGCAG	0.532																																					p.R589R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1767T	1						.						132.0	143.0	140.0					1																	223986098		2203	4300	6503	222052721	SO:0001819	synonymous_variant	7159	exon12			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1767G>T	1.37:g.223986098C>A			222052721	NM_001031685	B4DG66|Q12892|Q86X75|Q96KQ3	Silent	SNP	ENST00000343537.7	37	CCDS44319.1																																																																																				0.532	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426	
IBA57	200205	broad.mit.edu	37	1	228362990	228362990	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:228362990C>T	ENST00000366711.3	+	3	849	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_Missense_Mutation_p.R90W	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	283					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)	p.R283W(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CTTCCCTGTCCGGTTCTTGGA	0.637																																					p.R283W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C847T	1						.						67.0	62.0	64.0					1																	228362990		2203	4299	6502	226429613	SO:0001583	missense	200205	exon3			AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"""iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"""	615316	"""chromosome 1 open reading frame 69"""	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.847C>T	1.37:g.228362990C>T	ENSP00000355672:p.Arg283Trp		226429613	NM_001010867		Missense_Mutation	SNP	ENST00000366711.3	37	CCDS31046.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691118	0.48097	.	.	ENSG00000181873	ENST00000366711;ENST00000546123	T;T	0.47528	0.84;0.87	5.08	0.662	0.17880	YgfZ/GcvT conserved site (1);Glycine cleavage T-protein, C-terminal barrel (1);	0.655203	0.15686	N	0.249691	T	0.68641	0.3023	M	0.86028	2.79	0.09310	N	1	D	0.71674	0.998	P	0.61658	0.892	T	0.68029	-0.5517	10	0.62326	D	0.03	-4.7731	17.3036	0.87189	0.5108:0.4892:0.0:0.0	.	283	Q5T440	CAF17_HUMAN	W	283;90	ENSP00000355672:R283W;ENSP00000437347:R90W	ENSP00000355672:R283W	R	+	1	2	IBA57	226429613	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.328000	0.19681	0.016000	0.14998	-0.808000	0.03180	CGG		0.637	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095980.1	NM_001010867	
RHOU	58480	broad.mit.edu	37	1	228879271	228879271	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:228879271G>A	ENST00000366691.3	+	3	1227	c.561G>A	c.(559-561)gcG>gcA	p.A187A		NM_021205.5	NP_067028.1			ras homolog family member U									p.A187A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				CTGAAGAGGCGGCTAAGCTGT	0.502																																					p.A187A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G561A	1						.						89.0	97.0	94.0					1																	228879271		2203	4300	6503	226945894	SO:0001819	synonymous_variant	58480	exon3				CCDS1575.1	1q42.11-q42.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000116574	ENSG00000116574			17794	protein-coding gene	gene with protein product	"""Ryu GTPase"", ""Wnt-1 responsive Cdc42 homolog"", ""2310026M05Rik"", ""GTP-binding protein like 1"", ""CDC42-like GTPase"", ""GTP-binding protein SB128"", ""ras-like gene family member U"""	606366	"""ras homolog gene family, member U"""	ARHU		11459829	Standard	NM_021205		Approved	WRCH-1, DJ646B12.2, FLJ10616, WRCH1, CDC42L1, hG28K, fJ646B12.2	uc001htf.3	Q7L0Q8	OTTHUMG00000037919	ENST00000366691.3:c.561G>A	1.37:g.228879271G>A			226945894	NM_021205		Silent	SNP	ENST00000366691.3	37	CCDS1575.1																																																																																				0.502	RHOU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092555.1	NM_021205	
AGT	183	broad.mit.edu	37	1	230846185	230846185	+	Missense_Mutation	SNP	C	C	T	rs61762539	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:230846185C>T	ENST00000366667.4	-	2	626	c.412G>A	c.(412-414)Gct>Act	p.A138T	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	138					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)	p.A138T(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCAAAGACAGCCGTTGGGGAG	0.577																																					p.A138T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G412A	1						.						94.0	95.0	95.0					1																	230846185		2203	4300	6503	228912808	SO:0001583	missense	183	exon2			K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.412G>A	1.37:g.230846185C>T	ENSP00000355627:p.Ala138Thr		228912808	NM_000029	Q16358|Q16359|Q96F91	Missense_Mutation	SNP	ENST00000366667.4	37	CCDS1585.1	.	.	.	.	.	.	.	.	.	.	C	3.610	-0.079674	0.07141	.	.	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.87809	-2.3	5.09	-0.185	0.13276	Serpin domain (3);	0.704369	0.14507	N	0.315396	T	0.68007	0.2954	N	0.11201	0.11	0.09310	N	1	B;B;B	0.27932	0.163;0.194;0.163	B;B;B	0.22152	0.027;0.038;0.027	T	0.56655	-0.7943	10	0.40728	T	0.16	.	2.1733	0.03855	0.1264:0.3067:0.1238:0.4432	.	138;138;138	B0ZBE2;B2R5S1;P01019	.;.;ANGT_HUMAN	T	138	ENSP00000355627:A138T	ENSP00000355627:A138T	A	-	1	0	AGT	228912808	0.000000	0.05858	0.001000	0.08648	0.269000	0.26545	0.153000	0.16323	-0.216000	0.10048	-0.339000	0.08088	GCT		0.577	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029	
TTC13	79573	broad.mit.edu	37	1	231044529	231044529	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:231044529G>A	ENST00000366661.4	-	22	2404	c.2397C>T	c.(2395-2397)gaC>gaT	p.D799D	TTC13_ENST00000366662.4_Silent_p.D745D|TTC13_ENST00000414259.1_Silent_p.D746D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	799								p.D799D(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TAGCTTCAAAGTCGACTAACT	0.433																																					p.D799D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2397T	1						.						68.0	66.0	67.0					1																	231044529		2203	4300	6503	229111152	SO:0001819	synonymous_variant	79573	exon22				CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.2397C>T	1.37:g.231044529G>A			229111152	NM_024525	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Silent	SNP	ENST00000366661.4	37	CCDS1588.1																																																																																				0.433	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525	
NID1	4811	broad.mit.edu	37	1	236145017	236145017	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:236145017T>C	ENST00000264187.6	-	16	3203	c.3121A>G	c.(3121-3123)Aac>Gac	p.N1041D	NID1_ENST00000366595.3_Missense_Mutation_p.N908D	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1041					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.N1041D(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CGATCCAGGTTAGAGTCTGTC	0.493																																					p.N1041D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3121G	1						.						85.0	80.0	82.0					1																	236145017		2203	4300	6503	234211640	SO:0001583	missense	4811	exon16			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.3121A>G	1.37:g.236145017T>C	ENSP00000264187:p.Asn1041Asp		234211640	NM_002508	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.132576	0.37630	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.96011	-3.88;-3.88	5.88	0.605	0.17553	Six-bladed beta-propeller, TolB-like (1);	0.885835	0.10415	N	0.677439	D	0.89891	0.6846	N	0.20807	0.61	0.09310	N	1	B;B	0.22851	0.039;0.076	B;B	0.29440	0.023;0.102	T	0.80264	-0.1455	10	0.41790	T	0.15	.	7.1515	0.25614	0.1251:0.0:0.5136:0.3614	.	908;1041	P14543-2;P14543	.;NID1_HUMAN	D	1041;908	ENSP00000264187:N1041D;ENSP00000355554:N908D	ENSP00000264187:N1041D	N	-	1	0	NID1	234211640	0.008000	0.16893	0.381000	0.26106	0.795000	0.44927	0.742000	0.26216	-0.136000	0.11475	-0.213000	0.12676	AAC		0.493	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508	
RYR2	6262	broad.mit.edu	37	1	237777707	237777707	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:237777707G>A	ENST00000366574.2	+	37	5596	c.5279G>A	c.(5278-5280)cGg>cAg	p.R1760Q	RYR2_ENST00000360064.6_Missense_Mutation_p.R1758Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R1744Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1760	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R1758Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCAGGCCACGGATGCAGTTT	0.517																																					p.R1760Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5279A	1						.						77.0	77.0	77.0					1																	237777707		1991	4160	6151	235844330	SO:0001583	missense	6262	exon37			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5279G>A	1.37:g.237777707G>A	ENSP00000355533:p.Arg1760Gln		235844330	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390375	0.25118	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.72942	-0.7;-0.7;-0.7	5.43	5.43	0.79202	.	0.000000	0.56097	D	0.000023	T	0.45438	0.1342	N	0.24115	0.695	0.80722	D	1	P	0.44816	0.844	B	0.30105	0.111	T	0.56848	-0.7911	10	0.02654	T	1	.	12.5806	0.56388	0.0757:0.0:0.9243:0.0	.	1760	Q92736	RYR2_HUMAN	Q	1760;1758;1744	ENSP00000355533:R1760Q;ENSP00000353174:R1758Q;ENSP00000443798:R1744Q	ENSP00000353174:R1758Q	R	+	2	0	RYR2	235844330	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.743000	0.68655	2.563000	0.86464	0.650000	0.86243	CGG		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237948066	237948066	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:237948066A>G	ENST00000366574.2	+	90	13371	c.13054A>G	c.(13054-13056)Aaa>Gaa	p.K4352E	RYR2_ENST00000360064.6_Missense_Mutation_p.K4358E|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.K4336E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4352					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.K4350E(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGAGAGAGGAAACCCCTGGA	0.532																																					p.K4352E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A13054G	1						.						56.0	57.0	56.0					1																	237948066		1922	4121	6043	236014689	SO:0001583	missense	6262	exon90			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13054A>G	1.37:g.237948066A>G	ENSP00000355533:p.Lys4352Glu		236014689	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	1.432	-0.570048	0.03910	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.92911	-3.13;-3.13;-3.13	5.32	5.32	0.75619	Ryanodine Receptor TM 4-6 (1);	0.282399	0.27451	N	0.019306	T	0.77432	0.4129	N	0.01352	-0.895	0.80722	D	1	B;B	0.32781	0.384;0.134	B;B	0.34590	0.186;0.098	T	0.79500	-0.1778	10	0.05351	T	0.99	-7.3731	15.4566	0.75321	1.0:0.0:0.0:0.0	.	1326;4352	B4DGV4;Q92736	.;RYR2_HUMAN	E	4352;4358;4336;1326	ENSP00000355533:K4352E;ENSP00000353174:K4358E;ENSP00000443798:K4336E	ENSP00000353174:K4358E	K	+	1	0	RYR2	236014689	1.000000	0.71417	0.978000	0.43139	0.374000	0.29953	5.087000	0.64480	2.236000	0.73375	0.528000	0.53228	AAA		0.532	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
EXO1	9156	broad.mit.edu	37	1	242042227	242042227	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:242042227C>T	ENST00000366548.3	+	13	2284	c.1691C>T	c.(1690-1692)cCg>cTg	p.P564L	EXO1_ENST00000348581.5_Missense_Mutation_p.P564L|EXO1_ENST00000518483.1_Missense_Mutation_p.P564L	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	564					DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.P564L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GATGACATTCCGAATAATCAT	0.398								Editing and processing nucleases																													p.P564L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1691T	1						.						143.0	134.0	137.0					1																	242042227		2203	4300	6503	240108850	SO:0001583	missense	9156	exon13			AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1691C>T	1.37:g.242042227C>T	ENSP00000355506:p.Pro564Leu		240108850	NM_130398	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	C	7.954	0.745531	0.15710	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.35421	1.38;1.38;1.31	3.54	0.909	0.19332	.	.	.	.	.	T	0.17492	0.0420	N	0.14661	0.345	0.19300	N	0.999977	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.27938	-1.0059	9	0.18710	T	0.47	.	5.0279	0.14395	0.0:0.4508:0.0:0.5492	.	563;564;564	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	L	564	ENSP00000355506:P564L;ENSP00000311873:P564L;ENSP00000430251:P564L	ENSP00000311873:P564L	P	+	2	0	EXO1	240108850	0.000000	0.05858	0.003000	0.11579	0.020000	0.10135	-0.230000	0.09083	0.238000	0.21222	0.650000	0.86243	CCG		0.398	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027	
IFNLR1	163702	broad.mit.edu	37	1	24483648	24483648	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:24483648C>T	ENST00000327535.1	-	7	1547	c.1535G>A	c.(1534-1536)cGg>cAg	p.R512Q	IFNLR1_ENST00000374421.3_Missense_Mutation_p.R483Q|IFNLR1_ENST00000327575.2_3'UTR	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	512					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)		p.R512Q(1)									CCCCAATGTCCGGCCCCTGTC	0.607																																					p.R512Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1535A	1						.						60.0	64.0	62.0					1																	24483648		2203	4300	6503	24356235	SO:0001583	missense	163702	exon7			AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.1535G>A	1.37:g.24483648C>T	ENSP00000327824:p.Arg512Gln		24356235	NM_170743	Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Missense_Mutation	SNP	ENST00000327535.1	37	CCDS248.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637624	0.29157	.	.	ENSG00000185436	ENST00000327535;ENST00000374421	.	.	.	4.75	-3.0	0.05480	.	1.189540	0.06856	N	0.798226	T	0.13415	0.0325	N	0.14661	0.345	0.09310	N	1	P;P	0.38370	0.495;0.628	B;B	0.31191	0.059;0.125	T	0.17137	-1.0379	9	0.41790	T	0.15	-0.0194	5.1504	0.15007	0.0:0.3396:0.2632:0.3972	.	512;483	Q8IU57;Q8IU57-2	I28RA_HUMAN;.	Q	512;483	.	ENSP00000327824:R512Q	R	-	2	0	IL28RA	24356235	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.736000	0.04882	-0.512000	0.06505	0.205000	0.17691	CGG		0.607	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743	
PLD5	200150	broad.mit.edu	37	1	242253159	242253159	+	Silent	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:242253159T>C	ENST00000536534.2	-	10	1849	c.1608A>G	c.(1606-1608)gtA>gtG	p.V536V	PLD5_ENST00000442594.2_Silent_p.V444V|PLD5_ENST00000427495.1_Silent_p.V474V			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	536						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.V444V(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CATCATGTTATACGTTCCGGG	0.423																																					p.V474V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1422G	1						.						201.0	197.0	198.0					1																	242253159		2203	4300	6503	240319782	SO:0001819	synonymous_variant	200150	exon10			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1608A>G	1.37:g.242253159T>C			240319782	NM_001195811	A1KXV0|B7Z324|Q494U9|Q8NB22	Silent	SNP	ENST00000536534.2	37	CCDS1621.2																																																																																				0.423	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666	
OR2L3	391192	broad.mit.edu	37	1	248224362	248224362	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:248224362T>C	ENST00000359959.3	+	1	379	c.379T>C	c.(379-381)Ttt>Ctt	p.F127L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F127L(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGCTATTTGCTTTCCTCTTCA	0.458																																					p.F127L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T379C	1						.						294.0	283.0	287.0					1																	248224362		2203	4300	6503	246290985	SO:0001583	missense	391192	exon1			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.379T>C	1.37:g.248224362T>C	ENSP00000353044:p.Phe127Leu		246290985	NM_001004687	B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	10.64	1.407624	0.25378	.	.	ENSG00000198128	ENST00000359959	T	0.01335	5.0	1.91	0.443	0.16587	GPCR, rhodopsin-like superfamily (1);	0.585491	0.13029	U	0.419497	T	0.01061	0.0035	N	0.04260	-0.245	0.09310	N	0.999999	P	0.47350	0.894	P	0.46850	0.529	T	0.54708	-0.8253	10	0.72032	D	0.01	.	5.7117	0.17938	0.3661:0.0:0.0:0.6339	.	127	Q8NG85	OR2L3_HUMAN	L	127	ENSP00000353044:F127L	ENSP00000353044:F127L	F	+	1	0	OR2L3	246290985	0.000000	0.05858	0.946000	0.38457	0.071000	0.16799	-4.541000	0.00218	0.853000	0.35312	0.379000	0.24179	TTT		0.458	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687	
OR2L13	284521	broad.mit.edu	37	1	248262920	248262920	+	Silent	SNP	G	G	A	rs149825142		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:248262920G>A	ENST00000358120.2	+	2	388	c.243G>A	c.(241-243)gcG>gcA	p.A81A	OR2L13_ENST00000366478.2_Silent_p.A81A			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A81A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCAAGATGGCGTACAACTTCC	0.537																																					p.A81A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G243A	1						.	G		0,4406		0,0,2203	235.0	209.0	218.0		243	-8.1	0.0	1	dbSNP_134	218	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OR2L13	NM_175911.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		81/313	248262920	2,13004	2203	4300	6503	246329543	SO:0001819	synonymous_variant	284521	exon3			BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.243G>A	1.37:g.248262920G>A			246329543	NM_175911	Q5VUR5	Silent	SNP	ENST00000358120.2	37	CCDS1637.1																																																																																				0.537	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911	
OR2M3	127062	broad.mit.edu	37	1	248367073	248367073	+	Missense_Mutation	SNP	G	G	A	rs138010167	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:248367073G>A	ENST00000456743.1	+	1	742	c.704G>A	c.(703-705)cGc>cAc	p.R235H		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R235H(2)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GAGGGTCGTCGCAAAGCTTTT	0.468													g|||	2	0.000399361	0.0	0.0	5008	,	,		20996	0.001		0.001	False		,,,				2504	0.0				p.R235H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G704A	1						.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	257.0	244.0	248.0		704	-3.3	0.0	1	dbSNP_134	248	0,8600		0,0,4300	no	missense	OR2M3	NM_001004689.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	235/313	248367073	1,13005	2203	4300	6503	246433696	SO:0001583	missense	127062	exon1				CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.704G>A	1.37:g.248367073G>A	ENSP00000389625:p.Arg235His		246433696	NM_001004689	B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	CCDS31107.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	6.305	0.424298	0.11928	2.27E-4	0.0	ENSG00000228198	ENST00000456743	T	0.00034	8.87	2.25	-3.31	0.04988	GPCR, rhodopsin-like superfamily (1);	1.276350	0.06104	N	0.665935	T	0.00073	0.0002	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.04386	-1.0955	10	0.41790	T	0.15	.	7.4052	0.26987	0.6672:0.0:0.3328:0.0	.	235	Q8NG83	OR2M3_HUMAN	H	235	ENSP00000389625:R235H	ENSP00000389625:R235H	R	+	2	0	OR2M3	246433696	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.791000	0.00767	-0.925000	0.03775	0.398000	0.26397	CGC		0.468	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689	
OR2M7	391196	broad.mit.edu	37	1	248487129	248487129	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:248487129C>G	ENST00000317965.2	-	1	770	c.742G>C	c.(742-744)Gtg>Ctg	p.V248L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V248L(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TACATTCCCACCACCATGAGG	0.468																																					p.V248L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G742C	1						.						206.0	188.0	194.0					1																	248487129		2203	4300	6503	246553752	SO:0001583	missense	391196	exon1			BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.742G>C	1.37:g.248487129C>G	ENSP00000324557:p.Val248Leu		246553752	NM_001004691	B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	C	8.561	0.877846	0.17395	.	.	ENSG00000177186	ENST00000317965	T	0.00355	7.91	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29715	U	0.011383	T	0.00936	0.0031	M	0.91768	3.24	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.17289	-1.0374	10	0.87932	D	0	.	10.9428	0.47283	0.0:1.0:0.0:0.0	.	248	Q8NG81	OR2M7_HUMAN	L	248	ENSP00000324557:V248L	ENSP00000324557:V248L	V	-	1	0	OR2M7	246553752	0.004000	0.15560	0.519000	0.27824	0.099000	0.18886	0.065000	0.14466	0.850000	0.35239	0.194000	0.17425	GTG		0.468	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691	
CHD5	26038	broad.mit.edu	37	1	6191717	6191717	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:6191717C>T	ENST00000262450.3	-	21	3335	c.3236G>A	c.(3235-3237)cGg>cAg	p.R1079Q	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.R1079Q(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGCCTCCTGCCGGAGGCCCCC	0.567																																					p.R1079Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3236A	1						.						84.0	77.0	80.0					1																	6191717		2203	4300	6503	6114304	SO:0001583	missense	26038	exon21			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3236G>A	1.37:g.6191717C>T	ENSP00000262450:p.Arg1079Gln		6114304	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898193	0.72639	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.89617	-2.54	5.09	4.18	0.49190	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000003	D	0.91683	0.7371	H	0.97806	4.08	0.80722	D	1	P	0.43519	0.809	B	0.32393	0.145	D	0.92997	0.6420	10	0.87932	D	0	-28.1581	13.5895	0.61951	0.0:0.9245:0.0:0.0755	.	1079	Q8TDI0	CHD5_HUMAN	Q	1079;595;487;487	ENSP00000262450:R1079Q	ENSP00000262450:R1079Q	R	-	2	0	CHD5	6114304	1.000000	0.71417	0.981000	0.43875	0.240000	0.25518	7.699000	0.84547	1.278000	0.44430	0.561000	0.74099	CGG		0.567	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
CHD5	26038	broad.mit.edu	37	1	6202342	6202342	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:6202342A>G	ENST00000262450.3	-	15	2381	c.2282T>C	c.(2281-2283)aTc>aCc	p.I761T	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.I761T(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCAGTTGATGATGGTGGAGAG	0.632																																					p.I761T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2282C	1						.						77.0	77.0	77.0					1																	6202342		2203	4300	6503	6124929	SO:0001583	missense	26038	exon15			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2282T>C	1.37:g.6202342A>G	ENSP00000262450:p.Ile761Thr		6124929	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.097817	0.76870	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.93811	-3.29	4.07	4.07	0.47477	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.93357	0.7882	N	0.22421	0.69	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	D	0.94232	0.7477	10	0.87932	D	0	-21.1291	13.3346	0.60509	1.0:0.0:0.0:0.0	.	761	Q8TDI0	CHD5_HUMAN	T	761;277;169;169	ENSP00000262450:I761T	ENSP00000262450:I761T	I	-	2	0	CHD5	6124929	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.183000	0.94887	1.609000	0.50190	0.459000	0.35465	ATC		0.632	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
RERE	473	broad.mit.edu	37	1	8418549	8418549	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:8418549C>T	ENST00000337907.3	-	21	4680	c.4046G>A	c.(4045-4047)cGg>cAg	p.R1349Q	RERE_ENST00000377464.1_Missense_Mutation_p.R1081Q|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.R795Q|RERE_ENST00000400908.2_Missense_Mutation_p.R1349Q	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1349					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R1349Q(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGCGCTGTGCCGGGCAAAGTG	0.697																																					p.R1349Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4046A	1						.						13.0	18.0	17.0					1																	8418549		2193	4292	6485	8341136	SO:0001583	missense	473	exon21			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.4046G>A	1.37:g.8418549C>T	ENSP00000338629:p.Arg1349Gln		8341136	NM_012102	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	CCDS95.1	.	.	.	.	.	.	.	.	.	.	C	35	5.450118	0.96205	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.54675	0.56;0.57;0.56	5.61	5.61	0.85477	.	.	.	.	.	T	0.68778	0.3038	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	D	0.63283	0.913	T	0.69851	-0.5033	9	0.72032	D	0.01	-11.8441	18.9896	0.92786	0.0:1.0:0.0:0.0	.	1349	Q9P2R6	RERE_HUMAN	Q	1349;1081;795;1349	ENSP00000338629:R1349Q;ENSP00000366684:R1081Q;ENSP00000383700:R1349Q	ENSP00000338629:R1349Q	R	-	2	0	RERE	8341136	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.787000	0.69013	2.793000	0.96121	0.655000	0.94253	CGG		0.697	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1		
ENO1	2023	broad.mit.edu	37	1	8927257	8927257	+	Silent	SNP	A	A	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:8927257A>T	ENST00000234590.4	-	6	482	c.363T>A	c.(361-363)gcT>gcA	p.A121A		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	121	Required for repression of c-myc promoter activity.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.A121A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CAACGGCACCAGCTTTGCAGA	0.542																																					p.A121A	Esophageal Squamous(21;302 608 19946 22210 33560)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T363A	1						.						83.0	84.0	84.0					1																	8927257		2203	4300	6503	8849844	SO:0001819	synonymous_variant	2023	exon6			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.363T>A	1.37:g.8927257A>T			8849844	NM_001428	B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Silent	SNP	ENST00000234590.4	37	CCDS97.1																																																																																				0.542	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428	
PIK3CD	5293	broad.mit.edu	37	1	9783259	9783259	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:9783259G>A	ENST00000377346.4	+	20	2698	c.2503G>A	c.(2503-2505)Gcc>Acc	p.A835T	PIK3CD_ENST00000361110.2_Missense_Mutation_p.A859T|PIK3CD_ENST00000536656.1_Missense_Mutation_p.A859T	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	835	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.A835T(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	AGACACCATCGCCAACATCCA	0.602																																					p.A835T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2503A	1						.						130.0	129.0	129.0					1																	9783259		2203	4300	6503	9705846	SO:0001583	missense	5293	exon20				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2503G>A	1.37:g.9783259G>A	ENSP00000366563:p.Ala835Thr		9705846	NM_005026	A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	CCDS104.1	.	.	.	.	.	.	.	.	.	.	G	35	5.427393	0.96131	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.77750	-1.12;-1.12;-1.12	4.94	4.94	0.65067	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.88786	0.6531	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.90405	0.4405	10	0.72032	D	0.01	-25.8605	18.1568	0.89694	0.0:0.0:1.0:0.0	.	834;859;835	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	T	859;835;859;859	ENSP00000446444:A859T;ENSP00000366563:A835T;ENSP00000354410:A859T	ENSP00000353766:A859T	A	+	1	0	PIK3CD	9705846	1.000000	0.71417	0.965000	0.40720	0.910000	0.53928	6.706000	0.74649	2.273000	0.75805	0.462000	0.41574	GCC		0.602	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026	
TCEB3	6924	broad.mit.edu	37	1	24078404	24078404	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:24078404delA	ENST00000418390.2	+	4	1658	c.1387delA	c.(1387-1389)aaafs	p.K464fs	TCEB3_ENST00000609199.1_Frame_Shift_Del_p.K438fs	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	464					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.N439fs*19(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TAAAGGACTTAAAAAAAATGA	0.413											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K463fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1387delA	1						.						70.0	83.0	79.0					1																	24078404		2195	4299	6494	23950991	SO:0001589	frameshift_variant	6924	exon4			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1387delA	1.37:g.24078404delA	ENSP00000395574:p.Lys464fs	768	23950991	NM_003198	B2R7Q8|Q8IXH1	Frame_Shift_Del	DEL	ENST00000418390.2	37	CCDS239.2																																																																																				0.413	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198	
CNKSR1	10256	broad.mit.edu	37	1	26515156	26515156	+	Missense_Mutation	SNP	G	G	A	rs148602031	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:26515156G>A	ENST00000374253.5	+	19	1718	c.1679G>A	c.(1678-1680)cGc>cAc	p.R560H	CNKSR1_ENST00000531191.1_Missense_Mutation_p.R295H|CATSPER4_ENST00000456354.2_5'Flank|CNKSR1_ENST00000361530.6_Missense_Mutation_p.R553H	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	560					Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)	p.R553H(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCCACACAGCGCAGCCCACGG	0.647																																					p.R553H	NSCLC(180;1396 2109 28270 30756 34275)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1658A	1						.	G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	39.0	39.0	39.0		1658	-3.0	0.3	1	dbSNP_134	39	0,8600		0,0,4300	no	missense	CNKSR1	NM_006314.2	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	553/714	26515156	2,13004	2203	4300	6503	26387743	SO:0001583	missense	10256	exon19			AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1679G>A	1.37:g.26515156G>A	ENSP00000363371:p.Arg560His		26387743	NM_006314	B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37		.	.	.	.	.	.	.	.	.	.	G	17.00	3.276445	0.59649	4.54E-4	0.0	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.15487	2.44;2.45;2.42	5.59	-2.99	0.05497	.	0.955500	0.08824	N	0.888314	T	0.08626	0.0214	N	0.14661	0.345	0.09310	N	1	B;B	0.16802	0.019;0.011	B;B	0.04013	0.001;0.001	T	0.33929	-0.9849	10	0.45353	T	0.12	-0.6577	6.594	0.22661	0.5059:0.1261:0.368:0.0	.	560;553	Q969H4;Q53GM7	CNKR1_HUMAN;.	H	553;560;295	ENSP00000354609:R553H;ENSP00000363371:R560H;ENSP00000431817:R295H	ENSP00000354609:R553H	R	+	2	0	CNKSR1	26387743	0.336000	0.24757	0.334000	0.25495	0.740000	0.42216	-0.113000	0.10774	-0.629000	0.05575	-0.768000	0.03414	CGC		0.647	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314	
CD52	1043	broad.mit.edu	37	1	26646734	26646734	+	Missense_Mutation	SNP	G	G	A	rs201908321		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:26646734G>A	ENST00000374213.2	+	2	188	c.127G>A	c.(127-129)Gga>Aga	p.G43R	UBXN11_ENST00000374222.1_5'Flank|UBXN11_ENST00000374217.2_5'Flank	NM_001803.2	NP_001794.2	P31358	CD52_HUMAN	CD52 molecule	43					positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory burst (GO:0045730)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.G43R(1)		large_intestine(1)	1		all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649)	Alemtuzumab(DB00087)	CAACATAAGCGGAGGCATTTT	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		18688	0.001		0.0	False		,,,				2504	0.0				p.G43R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G127A	1						.	G	ARG/GLY	0,4406		0,0,2203	173.0	156.0	161.0		127	0.7	0.0	1		161	1,8599	1.2+/-3.3	0,1,4299	no	missense	CD52	NM_001803.2	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	43/62	26646734	1,13005	2203	4300	6503	26519321	SO:0001583	missense	1043	exon2				CCDS30647.1	1p36	2008-02-05	2006-03-28	2005-02-07	ENSG00000169442	ENSG00000169442		"""CD molecules"""	1804	protein-coding gene	gene with protein product		114280	"""CD52 antigen (CAMPATH-1 antigen)"""	CDW52		1711975	Standard	NM_001803		Approved		uc001bmc.3	P31358	OTTHUMG00000003491	ENST00000374213.2:c.127G>A	1.37:g.26646734G>A	ENSP00000363330:p.Gly43Arg		26519321	NM_001803	Q5T138|Q9BW46	Missense_Mutation	SNP	ENST00000374213.2	37	CCDS30647.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.60	1.687957	0.29962	0.0	1.16E-4	ENSG00000169442	ENST00000374213	T	0.49432	0.78	4.11	0.742	0.18341	.	0.238062	0.21722	N	0.070117	T	0.27278	0.0669	.	.	.	0.09310	N	1	P	0.42649	0.786	B	0.33521	0.165	T	0.23833	-1.0177	9	0.87932	D	0	.	3.0929	0.06299	0.3176:0.2246:0.4578:0.0	.	43	P31358	CD52_HUMAN	R	43	ENSP00000363330:G43R	ENSP00000363330:G43R	G	+	1	0	CD52	26519321	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.015000	0.13355	0.159000	0.19401	0.655000	0.94253	GGA		0.512	CD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009704.1	NM_001803	
ZDHHC18	84243	broad.mit.edu	37	1	27179294	27179294	+	Silent	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:27179294C>A	ENST00000374142.4	+	7	1082	c.987C>A	c.(985-987)ccC>ccA	p.P329P	ZDHHC18_ENST00000478902.1_3'UTR	NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	329					cellular protein localization (GO:0034613)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.P329P(1)		endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		CTGTCAACCCCTACAGCCATA	0.562											OREG0013274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P329P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C987A	1						.						71.0	69.0	70.0					1																	27179294		2203	4300	6503	27051881	SO:0001819	synonymous_variant	84243	exon7			AK056427	CCDS30650.1	1p36.11	2008-05-02			ENSG00000204160	ENSG00000204160		"""Zinc fingers, DHHC-type"""	20712	protein-coding gene	gene with protein product							Standard	NM_032283		Approved	DKFZp667O2416	uc001bnb.3	Q9NUE0	OTTHUMG00000004092	ENST00000374142.4:c.987C>A	1.37:g.27179294C>A		792	27051881	NM_032283	A6NHY9|B4DQ84|Q5JYH0|Q9H020	Silent	SNP	ENST00000374142.4	37	CCDS30650.1	.	.	.	.	.	.	.	.	.	.	C	9.894	1.205059	0.22205	.	.	ENSG00000204160	ENST00000488397	.	.	.	4.94	4.02	0.46733	.	.	.	.	.	T	0.55561	0.1928	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52939	-0.8508	4	.	.	.	.	6.2061	0.20604	0.1376:0.6563:0.133:0.0731	.	.	.	.	I	94	.	.	L	+	1	2	ZDHHC18	27051881	0.904000	0.30761	1.000000	0.80357	0.999000	0.98932	-0.044000	0.12023	1.432000	0.47375	0.655000	0.94253	CTA		0.562	ZDHHC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011706.3	NM_032283	
AHDC1	27245	broad.mit.edu	37	1	27878507	27878507	+	Silent	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:27878507G>T	ENST00000247087.5	-	5	716	c.120C>A	c.(118-120)ccC>ccA	p.P40P	AHDC1_ENST00000374011.2_Silent_p.P40P			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	40	Pro-rich.						DNA binding (GO:0003677)	p.P40P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGGGCCGGGTGGGAAGCAggg	0.726																																					p.P40P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C120A	1						.						2.0	3.0	3.0					1																	27878507		1567	3284	4851	27751094	SO:0001819	synonymous_variant	27245	exon6			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.120C>A	1.37:g.27878507G>T			27751094	NM_001029882	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	37	CCDS30652.1																																																																																				0.726	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3		
SESN2	83667	broad.mit.edu	37	1	28607257	28607257	+	Missense_Mutation	SNP	C	C	T	rs373820243		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:28607257C>T	ENST00000253063.3	+	10	1708	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	463					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R463C(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGGAGGCGCGCATGCAAGC	0.632																																					p.R463C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1387T	1						.						113.0	95.0	101.0					1																	28607257		2203	4300	6503	28479844	SO:0001583	missense	83667	exon10			AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.1387C>T	1.37:g.28607257C>T	ENSP00000253063:p.Arg463Cys		28479844	NM_031459	Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	37	CCDS321.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806126	0.90623	.	.	ENSG00000130766	ENST00000253063	T	0.35973	1.28	4.74	4.74	0.60224	.	0.129303	0.53938	D	0.000050	T	0.63094	0.2482	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68977	-0.5267	10	0.87932	D	0	-28.1047	16.6349	0.85050	0.0:1.0:0.0:0.0	.	463	P58004	SESN2_HUMAN	C	463	ENSP00000253063:R463C	ENSP00000253063:R463C	R	+	1	0	SESN2	28479844	0.997000	0.39634	1.000000	0.80357	0.977000	0.68977	3.482000	0.53186	2.461000	0.83175	0.555000	0.69702	CGC		0.632	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1		
RAB42	115273	broad.mit.edu	37	1	28920438	28920438	+	Missense_Mutation	SNP	G	G	A	rs530073440		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:28920438G>A	ENST00000373826.3	+	2	433	c.127G>A	c.(127-129)Gtg>Atg	p.V43M	TAF12_ENST00000471683.1_Intron|RAB42_ENST00000465518.1_3'UTR	NM_152304.1	NP_689517.1	Q8N4Z0	RAB42_HUMAN	RAB42, member RAS oncogene family	43					small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.V43M(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)		CATGGCCTTCGTGGAGACCTC	0.597													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19256	0.0		0.0	False		,,,				2504	0.0				p.V43M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G127A	1						.						43.0	35.0	38.0					1																	28920438		2203	4300	6503	28793025	SO:0001583	missense	115273	exon2			BC033175	CCDS325.1	1p35.3	2014-02-12	2006-04-28		ENSG00000188060	ENSG00000188060		"""RAB, member RAS oncogene"""	28702	protein-coding gene	gene with protein product			"""RAB42, member RAS homolog family"""				Standard	NM_152304		Approved	MGC45806	uc001bqv.3	Q8N4Z0	OTTHUMG00000003656	ENST00000373826.3:c.127G>A	1.37:g.28920438G>A	ENSP00000362932:p.Val43Met		28793025	NM_152304	B2R5G2	Missense_Mutation	SNP	ENST00000373826.3	37	CCDS325.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996419	0.35226	.	.	ENSG00000188060	ENST00000373826	T	0.80909	-1.43	5.56	-11.1	0.00147	.	0.976509	0.08406	N	0.950675	T	0.57636	0.2067	N	0.21324	0.655	0.39891	D	0.973771	B	0.22541	0.071	B	0.24006	0.05	T	0.28808	-1.0032	10	0.06757	T	0.87	.	10.3042	0.43670	0.1986:0.407:0.3945:0.0	.	43	Q8N4Z0	RAB42_HUMAN	M	43	ENSP00000362932:V43M	ENSP00000362932:V43M	V	+	1	0	RAB42	28793025	0.001000	0.12720	0.670000	0.29842	0.771000	0.43674	-0.252000	0.08806	-1.612000	0.01579	-0.367000	0.07326	GTG		0.597	RAB42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010371.1	NM_152304	
PUM1	9698	broad.mit.edu	37	1	31465299	31465299	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:31465299G>A	ENST00000257075.5	-	7	1189	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*	PUM1_ENST00000440538.2_Nonsense_Mutation_p.Q366*|PUM1_ENST00000423018.2_Nonsense_Mutation_p.Q270*|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000373742.2_Nonsense_Mutation_p.Q306*|PUM1_ENST00000373747.3_Nonsense_Mutation_p.Q366*|PUM1_ENST00000426105.2_Nonsense_Mutation_p.Q366*|PUM1_ENST00000373741.4_Nonsense_Mutation_p.Q402*	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	366					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)	p.Q366*(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ACAGGTACCTGCGTGCCTGAA	0.517																																					p.Q366X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1096T	1						.						139.0	132.0	134.0					1																	31465299		2203	4300	6503	31237886	SO:0001587	stop_gained	9698	exon7			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1096C>T	1.37:g.31465299G>A	ENSP00000257075:p.Gln366*		31237886	NM_001020658	A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Nonsense_Mutation	SNP	ENST00000257075.5	37	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.489254|5.489254	0.96323|0.96323	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000525843;ENST00000498419;ENST00000532678|ENST00000257075;ENST00000373747;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.106321	.|0.64402	.|D	.|0.000002	T|.	0.81536|.	0.4843|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	D|.	0.83480|.	0.0064|.	3|.	.|0.87932	.|D	.|0	-0.2026|-0.2026	19.1619|19.1619	0.93537|0.93537	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	382;72;87|366;366;366;366;402;270;306;366	.|.	.|ENSP00000257075:Q366X	A|Q	-|-	2|1	0|0	PUM1|PUM1	31237886|31237886	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.378000|9.378000	0.97191|0.97191	2.694000|2.694000	0.91930|0.91930	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.517	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1		
COL16A1	1307	broad.mit.edu	37	1	32157107	32157107	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:32157107G>A	ENST00000373672.3	-	19	1825	c.1309C>T	c.(1309-1311)Cct>Tct	p.P437S	COL16A1_ENST00000373668.3_Missense_Mutation_p.P437S|COL16A1_ENST00000271069.6_Missense_Mutation_p.P437S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	437	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)	p.P437S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		ACAAAGCCAGGGTCTCCCTGG	0.667																																					p.P437S	Colon(143;498 1786 21362 25193 36625)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1309T	1						.						97.0	106.0	103.0					1																	32157107		1953	4136	6089	31929694	SO:0001583	missense	1307	exon19			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.1309C>T	1.37:g.32157107G>A	ENSP00000362776:p.Pro437Ser		31929694	NM_001856	Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523485	0.64747	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668;ENST00000373667	D;D;D;D	0.96802	-4.13;-4.06;-4.13;-4.06	5.21	5.21	0.72293	.	0.062510	0.64402	D	0.000005	D	0.97430	0.9159	L	0.58925	1.835	0.48288	D	0.999627	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.994;0.998	D	0.97607	1.0127	10	0.56958	D	0.05	.	16.058	0.80817	0.0:0.0:1.0:0.0	.	437;437;437	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	S	437;437;437;156	ENSP00000362776:P437S;ENSP00000271069:P437S;ENSP00000362772:P437S;ENSP00000362771:P156S	ENSP00000271069:P437S	P	-	1	0	COL16A1	31929694	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.876000	0.69667	2.618000	0.88619	0.462000	0.41574	CCT		0.667	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856	
AZIN2	113451	broad.mit.edu	37	1	33549681	33549681	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:33549681C>T	ENST00000294517.6	+	5	819	c.232C>T	c.(232-234)Ctg>Ttg	p.L78L	ADC_ENST00000373443.3_Silent_p.L78L|ADC_ENST00000358680.3_Silent_p.L78L|ADC_ENST00000373440.1_Silent_p.L78L|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Silent_p.L78L|ADC_ENST00000373441.1_Silent_p.L78L	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		78					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)	p.L78L(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	CCCAGGTGTGCTGAAGGTTCT	0.587																																					p.L78L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C232T	1						.						75.0	69.0	71.0					1																	33549681		2203	4300	6503	33322268	SO:0001819	synonymous_variant	113451	exon5																														ENST00000294517.6:c.232C>T	1.37:g.33549681C>T			33322268	NM_052998	B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Silent	SNP	ENST00000294517.6	37	CCDS375.1																																																																																				0.587	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1		
ZNF362	149076	broad.mit.edu	37	1	33764597	33764597	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:33764597C>T	ENST00000539719.1	+	9	1383	c.1213C>T	c.(1213-1215)Ccc>Tcc	p.P405S	ZNF362_ENST00000373428.5_Missense_Mutation_p.P405S	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	405					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.P405S(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCATCACTCGCCCCAGAGGAC	0.632											OREG0013343	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P405S	Pancreas(162;1431 2676 35353 38425)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1213T	1						.						84.0	80.0	82.0					1																	33764597		2203	4300	6503	33537184	SO:0001583	missense	149076	exon9				CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"""Zinc fingers, C2H2-type"""	18079	protein-coding gene	gene with protein product	"""rotund homolog (Drosophila)"""						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.1213C>T	1.37:g.33764597C>T	ENSP00000446335:p.Pro405Ser	842	33537184	NM_152493	Q8WYU4	Missense_Mutation	SNP	ENST00000539719.1	37	CCDS377.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980804	0.74474	.	.	ENSG00000160094	ENST00000539719;ENST00000373428	T;T	0.07800	3.16;3.16	5.16	5.16	0.70880	.	0.690099	0.12606	N	0.454316	T	0.15176	0.0366	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.19128	-1.0315	10	0.10636	T	0.68	-20.3511	16.1465	0.81575	0.0:1.0:0.0:0.0	.	405	Q5T0B9	ZN362_HUMAN	S	405	ENSP00000446335:P405S;ENSP00000362527:P405S	ENSP00000362527:P405S	P	+	1	0	ZNF362	33537184	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.350000	0.79385	2.414000	0.81942	0.561000	0.74099	CCC		0.632	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	NM_152493	
CSMD2	114784	broad.mit.edu	37	1	34180305	34180305	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:34180305G>A	ENST00000373381.4	-	21	3464	c.3288C>T	c.(3286-3288)ggC>ggT	p.G1096G		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1056	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1056G(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTCGCCCACGCCAAACTGCA	0.662																																					p.G1056G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3168T	1						.						68.0	71.0	70.0					1																	34180305		2203	4300	6503	33952892	SO:0001819	synonymous_variant	114784	exon21			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.3288C>T	1.37:g.34180305G>A			33952892	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37																																																																																					0.662	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	
GJB3	2707	broad.mit.edu	37	1	35250487	35250487	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:35250487C>T	ENST00000373366.2	+	2	739	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	RP1-34M23.5_ENST00000542839.1_RNA|GJB3_ENST00000373362.3_Missense_Mutation_p.R42C	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	42			R -> P (in EKV). {ECO:0000269|PubMed:10594760, ECO:0000269|PubMed:10798362}.		cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)	p.R42C(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGCTGCAGAGCGCGTGTGGGG	0.592																																					p.R42C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C124T	1						.						169.0	123.0	139.0					1																	35250487		2203	4300	6503	35023074	SO:0001583	missense	2707	exon2			BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"""Ion channels / Gap junction proteins (connexins)"""	4285	protein-coding gene	gene with protein product	"""connexin 31"""	603324	"""gap junction protein, beta 3, 31kD (connexin 31)"", ""gap junction protein, beta 3, 31kDa (connexin 31)"", ""erythrokeratodermia variabilis"""	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.124C>T	1.37:g.35250487C>T	ENSP00000362464:p.Arg42Cys		35023074	NM_024009	B2R790|Q2TAZ8	Missense_Mutation	SNP	ENST00000373366.2	37	CCDS384.1	.	.	.	.	.	.	.	.	.	.	c	12.05	1.823062	0.32237	.	.	ENSG00000188910	ENST00000373366;ENST00000373362;ENST00000543647	D;D	0.99136	-5.47;-5.47	5.85	4.01	0.46588	Connexin, N-terminal (2);	0.058104	0.64402	D	0.000004	D	0.98915	0.9632	M	0.84511	2.7	0.80722	D	1	D	0.76494	0.999	D	0.64877	0.93	D	0.98760	1.0724	10	0.72032	D	0.01	.	4.1852	0.10395	0.1325:0.6018:0.1279:0.1378	.	42	O75712	CXB3_HUMAN	C	42	ENSP00000362464:R42C;ENSP00000362460:R42C	ENSP00000362460:R42C	R	+	1	0	GJB3	35023074	0.994000	0.37717	0.887000	0.34795	0.001000	0.01503	0.540000	0.23191	0.840000	0.34995	-0.979000	0.02580	CGC		0.592	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011559.1	NM_024009	
ZMYM1	79830	broad.mit.edu	37	1	35579186	35579186	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:35579186delT	ENST00000373330.1	+	11	1929	c.1755delT	c.(1753-1755)aatfs	p.N585fs	ZMYM1_ENST00000359858.4_Frame_Shift_Del_p.N585fs|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	585						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.L587fs*1(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATAAAGGCAATTTTTTAGAAT	0.303																																					p.N585fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1755delT	1						.						45.0	45.0	45.0					1																	35579186		1799	4055	5854	35351773	SO:0001589	frameshift_variant	79830	exon10			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.1755delT	1.37:g.35579186delT	ENSP00000362427:p.Asn585fs		35351773	NM_024772	D3DPR7|Q7Z3Q4	Frame_Shift_Del	DEL	ENST00000373330.1	37	CCDS41302.1																																																																																				0.303	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772	
AGO4	192670	broad.mit.edu	37	1	36291531	36291531	+	Silent	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:36291531T>C	ENST00000373210.3	+	6	875	c.630T>C	c.(628-630)tcT>tcC	p.S210S		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	210					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)	p.S210S(1)									TGTTAGTATCTGCAACTGCTT	0.413																																					p.S210S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T630C	1						.						190.0	191.0	191.0					1																	36291531		2203	4300	6503	36064118	SO:0001819	synonymous_variant	192670	exon6			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.630T>C	1.37:g.36291531T>C			36064118	NM_017629	A7MD27	Silent	SNP	ENST00000373210.3	37	CCDS397.1																																																																																				0.413	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629	
AGO1	26523	broad.mit.edu	37	1	36359963	36359963	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:36359963C>T	ENST00000373204.4	+	7	1045	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	AGO1_ENST00000373206.1_Missense_Mutation_p.R203C	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	278	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R278C(1)									GAGGAAGTACCGCGTGTGTAA	0.512																																					p.R278C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C832T	1						.						188.0	141.0	157.0					1																	36359963		2203	4300	6503	36132550	SO:0001583	missense	26523	exon7			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.832C>T	1.37:g.36359963C>T	ENSP00000362300:p.Arg278Cys		36132550	NM_012199	Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	CCDS398.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082570	0.55861	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.17054	2.3;2.54	5.24	5.24	0.73138	Argonaute/Dicer protein, PAZ (4);	0.049636	0.85682	D	0.000000	T	0.30479	0.0766	M	0.84082	2.675	0.80722	D	1	B	0.24258	0.1	B	0.34180	0.177	T	0.12708	-1.0537	10	0.87932	D	0	-22.1228	13.9091	0.63855	0.1521:0.8479:0.0:0.0	.	278	Q9UL18	AGO1_HUMAN	C	203;278	ENSP00000362302:R203C;ENSP00000362300:R278C	ENSP00000362300:R278C	R	+	1	0	EIF2C1	36132550	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.791000	0.38744	2.721000	0.93114	0.591000	0.81541	CGC		0.512	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3		
AGO3	192669	broad.mit.edu	37	1	36505412	36505412	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:36505412C>T	ENST00000373191.4	+	15	2213	c.1864C>T	c.(1864-1866)Cac>Tac	p.H622Y	AGO3_ENST00000246314.6_Missense_Mutation_p.H388Y	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	622	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)	p.H622Y(1)									TATGGATGCACACCCAAGCAG	0.348																																					p.H388Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1162T	1						.						98.0	90.0	92.0					1																	36505412		2203	4300	6503	36277999	SO:0001583	missense	192669	exon13			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.1864C>T	1.37:g.36505412C>T	ENSP00000362287:p.His622Tyr		36277999	NM_177422	B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	CCDS399.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798470	0.90538	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.33654	1.4;1.4	6.16	6.16	0.99307	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	L	0.54863	1.705	0.80722	D	1	B	0.27450	0.179	P	0.48089	0.566	T	0.33033	-0.9884	10	0.09843	T	0.71	-49.4705	20.8598	0.99761	0.0:1.0:0.0:0.0	.	622	Q9H9G7	AGO3_HUMAN	Y	622;388	ENSP00000362287:H622Y;ENSP00000246314:H388Y	ENSP00000246314:H388Y	H	+	1	0	EIF2C3	36277999	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CAC		0.348	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852	
OSCP1	127700	broad.mit.edu	37	1	36886171	36886171	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:36886171A>T	ENST00000356637.5	-	9	958	c.895T>A	c.(895-897)Ttg>Atg	p.L299M	SNORA63_ENST00000364578.1_RNA|OSCP1_ENST00000433045.2_Missense_Mutation_p.L244M|OSCP1_ENST00000495222.1_Intron|OSCP1_ENST00000235532.5_Missense_Mutation_p.L289M|OSCP1_ENST00000315643.9_Missense_Mutation_p.L299M			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	299					transport (GO:0006810)	plasma membrane (GO:0005886)		p.L299M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						AGCCTGGCCAAGAAATTCAGC	0.473											OREG0013368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L289M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T865A	1						.						229.0	235.0	233.0					1																	36886171		2203	4300	6503	36658758	SO:0001583	missense	127700	exon8				CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"""oxidored nitro domain containing protein"""	608854	"""chromosome 1 open reading frame 102"""	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.895T>A	1.37:g.36886171A>T	ENSP00000349052:p.Leu299Met	866	36658758	NM_145047	A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP	ENST00000356637.5	37		.	.	.	.	.	.	.	.	.	.	a	20.3	3.972778	0.74246	.	.	ENSG00000116885	ENST00000235532;ENST00000356637;ENST00000433045;ENST00000315643	T;T;T;T	0.60171	0.74;0.74;0.21;1.0	5.89	-0.15	0.13416	.	0.000000	0.85682	D	0.000000	T	0.72203	0.3431	M	0.80183	2.485	0.39662	D	0.970626	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72171	-0.4371	10	0.87932	D	0	.	9.8158	0.40851	0.6946:0.0:0.3054:0.0	.	289;299	Q8WVF1-3;Q8WVF1	.;OSCP1_HUMAN	M	289;299;244;299	ENSP00000235532:L289M;ENSP00000349052:L299M;ENSP00000390820:L244M;ENSP00000314541:L299M	ENSP00000235532:L289M	L	-	1	2	OSCP1	36658758	0.996000	0.38824	0.992000	0.48379	0.997000	0.91878	0.607000	0.24209	-0.268000	0.09312	0.478000	0.44815	TTG		0.473	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000389759.1	NM_145047	
GNL2	29889	broad.mit.edu	37	1	38034452	38034452	+	Splice_Site	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:38034452C>A	ENST00000373062.3	-	13	1966	c.1868G>T	c.(1867-1869)aGa>aTa	p.R623I	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	623					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.R623I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				AAAATATTACCTGACTGCTGA	0.373																																					p.R623I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1868T	1						.						178.0	175.0	176.0					1																	38034452		2203	4300	6503	37807039	SO:0001630	splice_region_variant	29889	exon13			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1868+1G>T	1.37:g.38034452C>A			37807039	NM_013285	Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	37	CCDS421.1	.	.	.	.	.	.	.	.	.	.	C	32	5.154896	0.94686	.	.	ENSG00000134697	ENST00000373062	T	0.25414	1.8	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.35226	-0.9797	9	.	.	.	-23.386	20.6208	0.99490	0.0:1.0:0.0:0.0	.	623	Q13823	NOG2_HUMAN	I	623	ENSP00000362153:R623I	.	R	-	2	0	GNL2	37807039	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.745000	0.85046	2.882000	0.98803	0.655000	0.94253	AGA		0.373	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285	Missense_Mutation
BMP8A	353500	broad.mit.edu	37	1	39991356	39991356	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:39991356G>A	ENST00000331593.5	+	7	1441	c.1095G>A	c.(1093-1095)gcG>gcA	p.A365A	RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	365					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|diet induced thermogenesis (GO:0002024)|growth (GO:0040007)|negative regulation of insulin secretion (GO:0046676)|ossification (GO:0001503)|regulation of energy homeostasis (GO:2000505)	extracellular space (GO:0005615)		p.A365A(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCCCAAGGCGTGCTGTGCAC	0.617																																					p.A365A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1095A	1						.						131.0	99.0	110.0					1																	39991356		2203	4300	6503	39763943	SO:0001819	synonymous_variant	353500	exon7			AY303954	CCDS437.1	1p35-p32	2014-01-30			ENSG00000183682	ENSG00000183682		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	21650	protein-coding gene	gene with protein product							Standard	NM_181809		Approved		uc001cdi.3	Q7Z5Y6	OTTHUMG00000008394	ENST00000331593.5:c.1095G>A	1.37:g.39991356G>A			39763943	NM_181809	Q5T3A5	Silent	SNP	ENST00000331593.5	37	CCDS437.1																																																																																				0.617	BMP8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023079.1	NM_181809	
KCNQ4	9132	broad.mit.edu	37	1	41298709	41298711	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	GAG	GAG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:41298709_41298711delGAG	ENST00000347132.5	+	11	1619_1621	c.1537_1539delGAG	c.(1537-1539)gagdel	p.E514del	KCNQ4_ENST00000509682.2_In_Frame_Del_p.E460del|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	514					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.E513delE(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	GGAAGTAGCAGAGGAGAAGAGCT	0.576																																					p.513_513del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.1537_1539del	1						.																																			41071298	SO:0001651	inframe_deletion	9132	exon11			AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1537_1539delGAG	1.37:g.41298712_41298714delGAG	ENSP00000262916:p.Glu514del		41071296	NM_004700	O96025	In_Frame_Del	DEL	ENST00000347132.5	37	CCDS456.1																																																																																				0.576	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700	
SLFNL1	200172	broad.mit.edu	37	1	41483568	41483568	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:41483568G>A	ENST00000359345.1	-	2	3272	c.696C>T	c.(694-696)ggC>ggT	p.G232G	SLFNL1_ENST00000372611.1_Silent_p.G173G|SLFNL1_ENST00000439569.2_Silent_p.G232G|SLFNL1_ENST00000372613.2_Silent_p.G232G|SLFNL1_ENST00000302946.8_Silent_p.G232G|SLFNL1_ENST00000397197.2_Silent_p.G232G	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	232							ATP binding (GO:0005524)	p.G232G(1)		endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				TGAGGTACTCGCCGCTACCCC	0.642																																					p.G232G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C696T	1						.						53.0	45.0	47.0					1																	41483568		2203	4300	6503	41256155	SO:0001819	synonymous_variant	200172	exon3			BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.696C>T	1.37:g.41483568G>A			41256155	NM_144990	A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Silent	SNP	ENST00000359345.1	37	CCDS460.1																																																																																				0.642	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015650.1	NM_144990	
RIMKLA	284716	broad.mit.edu	37	1	42875747	42875747	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:42875747G>A	ENST00000431473.3	+	4	703	c.574G>A	c.(574-576)Gtg>Atg	p.V192M		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	192	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)	p.V151M(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCAGAAGTACGTGAAGGAGTC	0.522																																					p.V192M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G574A	1						.						165.0	158.0	161.0					1																	42875747		2203	4300	6503	42648334	SO:0001583	missense	284716	exon4			BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"""N-acetylaspartylglutamate synthetase II"""		"""family with sequence similarity 80, member A"""	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.574G>A	1.37:g.42875747G>A	ENSP00000414330:p.Val192Met		42648334	NM_173642	Q5VUS5	Missense_Mutation	SNP	ENST00000431473.3	37	CCDS466.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236137	0.79800	.	.	ENSG00000177181	ENST00000410070;ENST00000431473	.	.	.	5.45	5.45	0.79879	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 2 (1);	0.061228	0.64402	D	0.000005	D	0.83825	0.5338	M	0.87682	2.9	0.51767	D	0.99993	D	0.71674	0.998	D	0.71870	0.975	D	0.86648	0.1896	9	0.87932	D	0	-18.0287	16.7969	0.85604	0.0:0.0:1.0:0.0	.	192	Q8IXN7	RIMKA_HUMAN	M	68;192	.	ENSP00000387064:V68M	V	+	1	0	RIMKLA	42648334	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.005000	0.70716	2.552000	0.86080	0.650000	0.86243	GTG		0.522	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642	
SLC6A9	6536	broad.mit.edu	37	1	44476503	44476503	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:44476503C>T	ENST00000360584.2	-	3	492	c.301G>A	c.(301-303)Ggc>Agc	p.G101S	SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000357730.2_Missense_Mutation_p.G47S|SLC6A9_ENST00000372307.3_5'UTR|SLC6A9_ENST00000372310.3_Missense_Mutation_p.G28S|SLC6A9_ENST00000372306.3_Missense_Mutation_p.G28S|SLC6A9_ENST00000475075.2_Intron	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	101					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.G28S(1)|p.G101S(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCCCAGTTGCCCCGTTTGAGG	0.587																																					p.G101S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G301A	1						.						215.0	171.0	186.0					1																	44476503		2203	4300	6503	44249090	SO:0001583	missense	6536	exon3			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.301G>A	1.37:g.44476503C>T	ENSP00000353791:p.Gly101Ser		44249090	NM_201649	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	37	CCDS41317.1	.	.	.	.	.	.	.	.	.	.	C	36	5.726388	0.96847	.	.	ENSG00000196517	ENST00000372306;ENST00000372310;ENST00000360584;ENST00000357730;ENST00000528803;ENST00000466926	T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.86058	0.5842	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;0.999;0.999;1.0	D;D;D;D;D	0.97110	1.0;0.955;0.984;0.984;1.0	D	0.87530	0.2452	10	0.87932	D	0	.	17.3604	0.87348	0.0:1.0:0.0:0.0	.	47;28;28;47;101	B7Z3W8;B7Z8W5;P48067-2;P48067-3;P48067	.;.;.;.;SC6A9_HUMAN	S	28;28;101;47;47;82	ENSP00000361380:G28S;ENSP00000361384:G28S;ENSP00000353791:G101S;ENSP00000350362:G47S;ENSP00000435652:G47S;ENSP00000433241:G82S	ENSP00000350362:G47S	G	-	1	0	SLC6A9	44249090	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.509000	0.81698	2.623000	0.88846	0.591000	0.81541	GGC		0.587	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649	
ZSWIM5	57643	broad.mit.edu	37	1	45484670	45484670	+	Missense_Mutation	SNP	C	C	T	rs375662782		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:45484670C>T	ENST00000359600.5	-	14	3219	c.3014G>A	c.(3013-3015)cGc>cAc	p.R1005H		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1005						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)	p.R1005H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTCCATGTAGCGGGCGATGGT	0.557											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0014	5008	,	,		23405	0.0		0.0	False		,,,				2504	0.0				p.R1005H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3014A	1						.	C	HIS/ARG	1,4237		0,1,2118	75.0	75.0	75.0		3014	4.7	1.0	1		75	0,8476		0,0,4238	no	missense	ZSWIM5	NM_020883.1	29	0,1,6356	TT,TC,CC		0.0,0.0236,0.0079	probably-damaging	1005/1186	45484670	1,12713	2119	4238	6357	45257257	SO:0001583	missense	57643	exon14			AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.3014G>A	1.37:g.45484670C>T	ENSP00000352614:p.Arg1005His	932	45257257	NM_020883	Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396091	0.83011	2.36E-4	0.0	ENSG00000162415	ENST00000359600	T	0.59772	0.24	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.78175	0.4242	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81709	-0.0809	10	0.87932	D	0	-8.2066	18.6023	0.91253	0.0:1.0:0.0:0.0	.	1005	Q9P217	ZSWM5_HUMAN	H	1005	ENSP00000352614:R1005H	ENSP00000352614:R1005H	R	-	2	0	ZSWIM5	45257257	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.558000	0.86282	0.555000	0.69702	CGC		0.557	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581	
ECHDC2	55268	broad.mit.edu	37	1	53370343	53370343	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:53370343G>A	ENST00000371522.4	-	7	770	c.677C>T	c.(676-678)gCa>gTa	p.A226V	ECHDC2_ENST00000536120.1_Missense_Mutation_p.A180V|ECHDC2_ENST00000358358.5_Missense_Mutation_p.A195V	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	226					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)	p.A195V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CTGGGCCAGTGCTCGTGCCCG	0.672																																					p.A195V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C584T	1						.						42.0	37.0	39.0					1																	53370343		2203	4300	6503	53142931	SO:0001583	missense	55268	exon6			AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.677C>T	1.37:g.53370343G>A	ENSP00000360577:p.Ala226Val		53142931	NM_001198962	D3DQ36|Q9NV38	Missense_Mutation	SNP	ENST00000371522.4	37	CCDS55600.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628142	0.66901	.	.	ENSG00000121310	ENST00000371522;ENST00000358358;ENST00000536120;ENST00000467988	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-0.29	4.24	-1.83	0.07833	.	0.464509	0.24757	N	0.035842	T	0.72581	0.3478	M	0.63843	1.955	0.09310	N	0.999999	B;P	0.36959	0.4;0.575	B;B	0.37198	0.243;0.156	T	0.67837	-0.5567	10	0.51188	T	0.08	.	14.7143	0.69257	0.0:0.0:0.3131:0.6869	.	226;195	Q86YB7;Q86YB7-2	ECHD2_HUMAN;.	V	226;195;180;195	ENSP00000360577:A226V;ENSP00000351125:A195V;ENSP00000439264:A180V;ENSP00000441962:A195V	ENSP00000351125:A195V	A	-	2	0	ECHDC2	53142931	0.000000	0.05858	0.009000	0.14445	0.986000	0.74619	0.090000	0.15025	-0.108000	0.12066	0.491000	0.48974	GCA		0.672	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281	
DIO1	1733	broad.mit.edu	37	1	54375618	54375618	+	Silent	SNP	T	T	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:54375618T>G	ENST00000361921.3	+	4	720	c.696T>G	c.(694-696)ccT>ccG	p.P232P	DIO1_ENST00000524406.1_Silent_p.P103P|DIO1_ENST00000322679.6_3'UTR|DIO1_ENST00000388876.3_Silent_p.P184P|DIO1_ENST00000532493.1_3'UTR|DIO1_ENST00000525202.1_Silent_p.P168P	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	232					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)	p.P232P(1)|p.P184P(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						AATCTGGCCCTTGGAACTACA	0.468																																					p.P184P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T552G	1						.						146.0	136.0	140.0					1																	54375618		2203	4300	6503	54148206	SO:0001819	synonymous_variant	1733	exon3				CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000361921.3:c.696T>G	1.37:g.54375618T>G			54148206	NM_001039715	Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Silent	SNP	ENST00000361921.3	37	CCDS41339.1																																																																																				0.468	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000023247.3		
NFIA	4774	broad.mit.edu	37	1	61818202	61818202	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:61818202G>A	ENST00000403491.3	+	5	1265	c.781G>A	c.(781-783)Gca>Aca	p.A261T	NFIA_ENST00000371187.3_Missense_Mutation_p.A261T|NFIA_ENST00000371185.2_Missense_Mutation_p.A239T|NFIA_ENST00000485903.2_Missense_Mutation_p.A261T|NFIA_ENST00000371184.2_Intron|NFIA_ENST00000407417.3_Missense_Mutation_p.A253T|NFIA_ENST00000371191.1_Missense_Mutation_p.A284T|NFIA_ENST00000371189.4_Missense_Mutation_p.A306T|NFIA_ENST00000479364.1_3'UTR	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	261					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A261T(1)	NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GAGTCCAGGAGCAATGAGGAG	0.408																																					p.A306T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G916A	1						.						99.0	97.0	98.0					1																	61818202		2203	4300	6503	61590790	SO:0001583	missense	4774	exon6			U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.781G>A	1.37:g.61818202G>A	ENSP00000384523:p.Ala261Thr		61590790	NM_001145512	B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415834	0.42817	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371187	T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	N	0.11756	0.17	0.80722	D	1	D;D;D;D	0.69078	0.996;0.997;0.997;0.996	D;D;D;D	0.77004	0.987;0.989;0.989;0.981	T	0.33317	-0.9873	10	0.06625	T	0.88	-17.33	20.1576	0.98120	0.0:0.0:1.0:0.0	.	306;284;261;261	F8W8W3;B1AKN8;Q12857;Q12857-2	.;.;NFIA_HUMAN;.	T	284;253;306;261;261;239;261	ENSP00000360233:A284T;ENSP00000384680:A253T;ENSP00000360231:A306T;ENSP00000384523:A261T;ENSP00000419785:A261T;ENSP00000360227:A239T;ENSP00000360229:A261T	ENSP00000360227:A239T	A	+	1	0	NFIA	61590790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.122000	0.94380	2.773000	0.95371	0.650000	0.86243	GCA		0.408	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595	
ATG4C	84938	broad.mit.edu	37	1	63300481	63300481	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:63300481C>T	ENST00000317868.4	+	9	1254	c.1047C>T	c.(1045-1047)tgC>tgT	p.C349C	ATG4C_ENST00000371120.3_Silent_p.C349C	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	349					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)	p.C349C(2)	ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						CTCATTACTGCCAATCTTTTG	0.328																																					p.C349C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1047T	1						.						173.0	149.0	157.0					1																	63300481		2203	4300	6503	63073069	SO:0001819	synonymous_variant	84938	exon9			AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"""AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog C (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog C (S. cerevisiae)"""	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.1047C>T	1.37:g.63300481C>T			63073069	NM_178221	A6NLR8|D3DQ58|Q96K04	Silent	SNP	ENST00000317868.4	37	CCDS623.1																																																																																				0.328	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025332.2	NM_032852	
EFCAB7	84455	broad.mit.edu	37	1	63991268	63991268	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:63991268G>A	ENST00000371088.4	+	2	271	c.25G>A	c.(25-27)Gca>Aca	p.A9T	ITGB3BP_ENST00000271002.10_5'Flank|ITGB3BP_ENST00000283568.8_5'Flank|ITGB3BP_ENST00000371092.3_5'Flank	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	9							calcium ion binding (GO:0005509)	p.A9T(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						ACGAAGCGATGCAACTTTCTC	0.358																																					p.A9T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G25A	1						.						73.0	80.0	77.0					1																	63991268		2203	4300	6503	63763856	SO:0001583	missense	84455	exon2			BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.25G>A	1.37:g.63991268G>A	ENSP00000360129:p.Ala9Thr		63763856	NM_032437	Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	ENST00000371088.4	37	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	G	8.199	0.797726	0.16327	.	.	ENSG00000203965	ENST00000371088	T	0.60797	0.16	5.01	0.954	0.19595	.	0.655308	0.15711	N	0.248415	T	0.25606	0.0623	L	0.51422	1.61	0.09310	N	0.999998	B	0.25772	0.134	B	0.17979	0.02	T	0.22695	-1.0209	10	0.72032	D	0.01	-0.4872	5.1033	0.14772	0.294:0.0:0.575:0.1309	.	9	A8K855	EFCB7_HUMAN	T	9	ENSP00000360129:A9T	ENSP00000360129:A9T	A	+	1	0	EFCAB7	63763856	0.047000	0.20315	0.113000	0.21522	0.073000	0.16967	0.752000	0.26362	0.157000	0.19338	-0.300000	0.09419	GCA		0.358	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437	
RAVER2	55225	broad.mit.edu	37	1	65273018	65273018	+	Missense_Mutation	SNP	C	C	T	rs114877918	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:65273018C>T	ENST00000294428.3	+	9	1619	c.1541C>T	c.(1540-1542)aCg>aTg	p.T514M	RAVER2_ENST00000371072.4_Missense_Mutation_p.T501M|RAVER2_ENST00000430964.2_Intron			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	514						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T501M(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CAGCCAGCCACGGTGGGAATG	0.512													C|||	7	0.00139776	0.0045	0.0	5008	,	,		15032	0.001		0.0	False		,,,				2504	0.0				p.T501M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1502T	1						.	C	MET/THR	16,3840		0,16,1912	39.0	39.0	39.0		1502	3.3	0.0	1	dbSNP_132	39	0,8288		0,0,4144	yes	missense	RAVER2	NM_018211.3	81	0,16,6056	TT,TC,CC		0.0,0.4149,0.1318	benign	501/679	65273018	16,12128	1928	4144	6072	65045606	SO:0001583	missense	55225	exon9			AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1541C>T	1.37:g.65273018C>T	ENSP00000294428:p.Thr514Met		65045606	NM_018211	Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	37		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	2.363	-0.346123	0.05208	0.004149	0.0	ENSG00000162437	ENST00000371072;ENST00000294428	T;T	0.31769	1.48;1.48	5.32	3.35	0.38373	.	1.179750	0.06048	N	0.656212	T	0.04272	0.0118	N	0.08118	0	0.09310	N	1	P	0.47409	0.895	B	0.30401	0.115	T	0.16689	-1.0394	10	0.45353	T	0.12	-1.9693	5.7348	0.18061	0.0:0.6595:0.1558:0.1847	.	501	Q9HCJ3-2	.	M	501;514	ENSP00000360112:T501M;ENSP00000294428:T514M	ENSP00000294428:T514M	T	+	2	0	RAVER2	65045606	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.017000	0.13399	0.548000	0.28955	-0.156000	0.13503	ACG		0.512	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211	
RPE65	6121	broad.mit.edu	37	1	68895521	68895521	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:68895521C>T	ENST00000262340.5	-	14	1593	c.1540G>A	c.(1540-1542)Gcc>Acc	p.A514T		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	514					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)	p.A514T(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TCAGCCCGGGCAACTTCACTT	0.453																																					p.A514T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1540A	1						.						88.0	82.0	84.0					1																	68895521		2203	4300	6503	68668109	SO:0001583	missense	6121	exon14			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1540G>A	1.37:g.68895521C>T	ENSP00000262340:p.Ala514Thr		68668109	NM_000329	A8K1L0|Q5T9U3	Missense_Mutation	SNP	ENST00000262340.5	37	CCDS643.1	.	.	.	.	.	.	.	.	.	.	C	35	5.502151	0.96371	.	.	ENSG00000116745	ENST00000262340	D	0.97186	-4.28	5.52	5.52	0.82312	.	0.050136	0.85682	D	0.000000	D	0.98551	0.9516	M	0.88105	2.93	0.80722	D	1	D	0.65815	0.995	D	0.64877	0.93	D	0.99146	1.0857	10	0.66056	D	0.02	0.4302	19.0455	0.93018	0.0:1.0:0.0:0.0	.	514	Q16518	RPE65_HUMAN	T	514	ENSP00000262340:A514T	ENSP00000262340:A514T	A	-	1	0	RPE65	68668109	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.726000	0.84824	2.597000	0.87782	0.655000	0.94253	GCC		0.453	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329	
LRRC7	57554	broad.mit.edu	37	1	70226019	70226019	+	Silent	SNP	C	C	T	rs200701056		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:70226019C>T	ENST00000035383.5	+	1	162	c.132C>T	c.(130-132)ttC>ttT	p.F44F	LRRC7_ENST00000370958.1_Silent_p.F82F|LRRC7_ENST00000310961.5_Silent_p.F49F|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	44						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.F44F(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCTTTAACTTCGAACGAACAT	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17358	0.0		0.0	False		,,,				2504	0.0				p.F44F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C132T	1						.						84.0	83.0	83.0					1																	70226019		2203	4300	6503	69998607	SO:0001819	synonymous_variant	57554	exon1				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.132C>T	1.37:g.70226019C>T			69998607	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	CCDS645.1																																																																																				0.393	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
RABGGTB	5876	broad.mit.edu	37	1	76254926	76254926	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:76254926G>A	ENST00000319942.3	+	3	265	c.194G>A	c.(193-195)cGc>cAc	p.R65H	SNORD45A_ENST00000384512.1_RNA|SNORD45C_ENST00000383893.1_RNA|RABGGTB_ENST00000535300.1_5'UTR|SNORD45B_ENST00000364617.1_RNA|RABGGTB_ENST00000370826.3_Missense_Mutation_p.R65H|RABGGTB_ENST00000496055.1_3'UTR	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	65					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.R65H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						CAACTTCATCGCATGAATAGA	0.373																																					p.R65H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G194A	1						.						161.0	151.0	154.0					1																	76254926		2203	4300	6503	76027514	SO:0001583	missense	5876	exon3			U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.194G>A	1.37:g.76254926G>A	ENSP00000317473:p.Arg65His		76027514	NM_004582	Q92697	Missense_Mutation	SNP	ENST00000319942.3	37	CCDS669.1	.	.	.	.	.	.	.	.	.	.	G	33	5.252189	0.95336	.	.	ENSG00000137955	ENST00000319942;ENST00000370824;ENST00000370826	T;T	0.44083	0.93;0.93	4.79	4.79	0.61399	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.055964	0.64402	N	0.000001	T	0.45276	0.1334	M	0.70842	2.15	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.51193	0.662;0.586	T	0.48468	-0.9033	10	0.45353	T	0.12	-9.0684	17.8214	0.88651	0.0:0.0:1.0:0.0	.	65;65	Q59GT6;P53611	.;PGTB2_HUMAN	H	65	ENSP00000317473:R65H;ENSP00000359862:R65H	ENSP00000317473:R65H	R	+	2	0	RABGGTB	76027514	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.441000	0.97557	2.197000	0.70478	0.563000	0.77884	CGC		0.373	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026972.1	NM_004582	
ST6GALNAC5	81849	broad.mit.edu	37	1	77528823	77528823	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:77528823delT	ENST00000477717.1	+	5	1178	c.943delT	c.(943-945)tttfs	p.F316fs		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	316					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.Q317fs*11(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CAATATTCACTTTTTTCAACC	0.438																																					p.F315fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.943delT	1						.						116.0	110.0	112.0					1																	77528823		2203	4300	6503	77301411	SO:0001589	frameshift_variant	81849	exon5				CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.943delT	1.37:g.77528823delT	ENSP00000417583:p.Phe316fs		77301411	NM_030965	B1AK82	Frame_Shift_Del	DEL	ENST00000477717.1	37	CCDS673.1																																																																																				0.438	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965	
CTBS	1486	broad.mit.edu	37	1	85035745	85035745	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:85035745delT	ENST00000370630.5	-	3	442	c.394delA	c.(394-396)acafs	p.T132fs	CTBS_ENST00000477677.1_Intron	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	132					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)	p.T132fs*9(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		ATATATTGTGTTTTGGCCAAA	0.323																																					p.T132fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.394delA	1						.						88.0	90.0	89.0					1																	85035745		2203	4295	6498	84808333	SO:0001589	frameshift_variant	1486	exon3			M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.394delA	1.37:g.85035745delT	ENSP00000359664:p.Thr132fs		84808333	NM_004388	Q5VX50	Frame_Shift_Del	DEL	ENST00000370630.5	37	CCDS698.1																																																																																				0.323	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388	
SSX2IP	117178	broad.mit.edu	37	1	85113267	85113267	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:85113267G>T	ENST00000342203.3	-	14	1957	c.1694C>A	c.(1693-1695)aCt>aAt	p.T565N	SSX2IP_ENST00000437941.2_Missense_Mutation_p.T538N|SSX2IP_ENST00000605755.1_Missense_Mutation_p.T538N	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	565					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.T565N(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTCTTCAGCAGTTATATTCAG	0.388																																					p.T538N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1613A	1						.						171.0	146.0	154.0					1																	85113267		2203	4300	6503	84885855	SO:0001583	missense	117178	exon13				CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1694C>A	1.37:g.85113267G>T	ENSP00000340279:p.Thr565Asn		84885855	NM_001166295	A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	37	CCDS699.1	.	.	.	.	.	.	.	.	.	.	G	5.603	0.296077	0.10622	.	.	ENSG00000117155	ENST00000342203;ENST00000437941	T;T	0.53206	0.64;0.63	5.77	3.54	0.40534	.	0.587019	0.18083	N	0.152248	T	0.22666	0.0547	L	0.43152	1.355	0.25045	N	0.991176	B;B	0.31009	0.303;0.0	B;B	0.31547	0.132;0.001	T	0.13683	-1.0500	10	0.62326	D	0.03	-6.4509	10.2161	0.43168	0.079:0.0:0.7832:0.1378	.	565;538	Q9Y2D8;B4DFE3	ADIP_HUMAN;.	N	565;538	ENSP00000340279:T565N;ENSP00000412781:T538N	ENSP00000340279:T565N	T	-	2	0	SSX2IP	84885855	1.000000	0.71417	0.719000	0.30619	0.020000	0.10135	2.637000	0.46553	1.418000	0.47098	0.655000	0.94253	ACT		0.388	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021	
MCOLN3	55283	broad.mit.edu	37	1	85506829	85506829	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:85506829A>G	ENST00000370589.2	-	3	312	c.260T>C	c.(259-261)gTg>gCg	p.V87A	MCOLN3_ENST00000370587.1_Missense_Mutation_p.V87A|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	87					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V87A(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		GAAAGCTACCACCATCTGGTT	0.388																																					p.V87A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T260C	1						.						119.0	105.0	110.0					1																	85506829		2203	4300	6503	85279417	SO:0001583	missense	55283	exon3			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.260T>C	1.37:g.85506829A>G	ENSP00000359621:p.Val87Ala		85279417	NM_018298	Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	CCDS701.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.865473	0.51588	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370587	T;T	0.61274	0.12;0.12	5.76	5.76	0.90799	.	0.124813	0.56097	D	0.000027	T	0.53642	0.1809	M	0.71871	2.18	0.80722	D	1	D;D	0.58620	0.961;0.983	P;P	0.50860	0.652;0.634	T	0.54728	-0.8250	10	0.15952	T	0.53	0.5553	16.0916	0.81094	1.0:0.0:0.0:0.0	.	87;87	B1ANB7;Q8TDD5	.;MCLN3_HUMAN	A	87	ENSP00000359621:V87A;ENSP00000359619:V87A	ENSP00000304843:V87A	V	-	2	0	MCOLN3	85279417	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.958000	0.93099	2.186000	0.69663	0.533000	0.62120	GTG		0.388	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298	
SLC44A3	126969	broad.mit.edu	37	1	95357871	95357871	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:95357871T>G	ENST00000271227.6	+	14	1757	c.1655T>G	c.(1654-1656)cTc>cGc	p.L552R	SLC44A3_ENST00000532427.1_Missense_Mutation_p.L472R|SLC44A3_ENST00000467909.1_Missense_Mutation_p.L504R|SLC44A3_ENST00000527077.1_Missense_Mutation_p.L484R|SLC44A3_ENST00000529450.1_Missense_Mutation_p.L519R|SLC44A3_ENST00000446120.2_Missense_Mutation_p.L516R	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	552					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L504R(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TTTGGAGGACTCATGGCTTTT	0.393																																					p.L552R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1655G	1						.						282.0	275.0	277.0					1																	95357871		2203	4300	6503	95130459	SO:0001583	missense	126969	exon14			BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1655T>G	1.37:g.95357871T>G	ENSP00000271227:p.Leu552Arg		95130459	NM_001114106	B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	37	CCDS44176.1	.	.	.	.	.	.	.	.	.	.	T	18.78	3.697282	0.68386	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427	T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87	5.13	5.13	0.70059	.	0.000000	0.47455	D	0.000231	T	0.43366	0.1244	M	0.74881	2.28	0.37222	D	0.905305	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.994;0.982;0.994;1.0;1.0	T	0.51364	-0.8715	10	0.87932	D	0	-9.6542	15.2398	0.73461	0.0:0.0:0.0:1.0	.	472;516;484;519;552	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	R	516;552;484;519;504;472	ENSP00000389143:L516R;ENSP00000271227:L552R;ENSP00000433641:L484R;ENSP00000431836:L519R;ENSP00000432789:L504R;ENSP00000436661:L472R	ENSP00000271227:L552R	L	+	2	0	SLC44A3	95130459	1.000000	0.71417	0.981000	0.43875	0.977000	0.68977	6.926000	0.75835	2.054000	0.61138	0.402000	0.26972	CTC		0.393	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369	
ATP1A1	476	broad.mit.edu	37	1	116946569	116946569	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:116946569delA	ENST00000295598.5	+	22	3267	c.3015delA	c.(3013-3015)agafs	p.R1005fs	ATP1A1OS_ENST00000369492.4_RNA|ATP1A1_ENST00000369496.4_Frame_Shift_Del_p.R974fs|ATP1A1_ENST00000537345.1_Frame_Shift_Del_p.R1005fs|ATP1A1OS_ENST00000369491.1_RNA	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	1005					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.K1006fs*>18(1)		NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	ACGAAGTCAGAAAACTCATCA	0.463																																					p.R1005fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3015delA	1						.						178.0	174.0	175.0					1																	116946569		2203	4300	6503	116748092	SO:0001589	frameshift_variant	476	exon22			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.3015delA	1.37:g.116946569delA	ENSP00000295598:p.Arg1005fs		116748092	NM_000701	B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Frame_Shift_Del	DEL	ENST00000295598.5	37	CCDS887.1																																																																																				0.463	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233	
INSRR	3645	broad.mit.edu	37	1	156814053	156814053	+	Frame_Shift_Del	DEL	C	C	-	rs372329556		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:156814053delC	ENST00000368195.3	-	15	3153	c.2757delG	c.(2755-2757)gggfs	p.G919fs	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	919					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L920fs*37(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGACATGCAGCCCCCCAGCAT	0.562																																					p.G919fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.2757delG	1						.						67.0	65.0	66.0					1																	156814053		2203	4300	6503	155080677	SO:0001589	frameshift_variant	3645	exon15			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2757delG	1.37:g.156814053delC	ENSP00000357178:p.Gly919fs		155080677	NM_014215	O60724|Q5VZS3	Frame_Shift_Del	DEL	ENST00000368195.3	37	CCDS1160.1																																																																																				0.562	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215	
IGSF9	57549	broad.mit.edu	37	1	159898452	159898452	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:159898452delG	ENST00000368094.1	-	19	2923	c.2726delC	c.(2725-2727)cctfs	p.P910fs	IGSF9_ENST00000361509.3_Frame_Shift_Del_p.P894fs|TAGLN2_ENST00000368097.4_5'Flank|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	910	Pro-rich.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.P893fs*19(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCTGCTGGAGGGGGTGCCAC	0.657																																					p.P909fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2726delC	1						.						8.0	8.0	8.0					1																	159898452		2179	4262	6441	158165076	SO:0001589	frameshift_variant	57549	exon19			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.2726delC	1.37:g.159898452delG	ENSP00000357073:p.Pro910fs		158165076	NM_001135050		Frame_Shift_Del	DEL	ENST00000368094.1	37	CCDS44254.1																																																																																				0.657	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789	
GPR161	23432	broad.mit.edu	37	1	168054869	168054869	+	Frame_Shift_Del	DEL	C	C	-	rs147976800		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:168054869delC	ENST00000367838.1	-	8	1803	c.1490delG	c.(1489-1491)ggcfs	p.G498fs	GPR161_ENST00000361697.2_Frame_Shift_Del_p.G498fs|GPR161_ENST00000539777.1_Frame_Shift_Del_p.G420fs|GPR161_ENST00000367835.1_Frame_Shift_Del_p.G498fs|GPR161_ENST00000367836.1_Frame_Shift_Del_p.G366fs|GPR161_ENST00000546300.1_Frame_Shift_Del_p.G384fs|GPR161_ENST00000271357.5_Frame_Shift_Del_p.G498fs|GPR161_ENST00000537209.1_Frame_Shift_Del_p.G518fs	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	498					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)	p.G497fs*13(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCCGAAGCCGCCCCCCGGGAC	0.582																																					p.G497fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1490delG	1						.						64.0	78.0	74.0					1																	168054869		2203	4300	6503	166321493	SO:0001589	frameshift_variant	23432	exon8			AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.1490delG	1.37:g.168054869delC	ENSP00000356812:p.Gly498fs		166321493	NM_153832	B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Frame_Shift_Del	DEL	ENST00000367838.1	37	CCDS1268.1																																																																																				0.582	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369	
OR2T34	127068	broad.mit.edu	37	1	248737659	248737659	+	Missense_Mutation	SNP	G	G	A	rs149589955	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr1:248737659G>A	ENST00000328782.2	-	1	421	c.400C>T	c.(400-402)Cct>Tct	p.P134S		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P134S(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAATGGAGAGGTCTGCAAACA	0.557													g|||	6	0.00119808	0.0038	0.0014	5008	,	,		18608	0.0		0.0	False		,,,				2504	0.0				p.P134S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C400T	1						.	G	SER/PRO	24,4320		1,22,2149	10.0	12.0	11.0		400	2.3	0.0	1	dbSNP_134	11	1,8541		0,1,4270	no	missense	OR2T34	NM_001001821.1	74	1,23,6419	AA,AG,GG		0.0117,0.5525,0.194	probably-damaging	134/319	248737659	25,12861	2172	4271	6443	246804282	SO:0001583	missense	127068	exon1			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.400C>T	1.37:g.248737659G>A	ENSP00000330904:p.Pro134Ser		246804282	NM_001001821	B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	17.00	3.277896	0.59758	0.005525	1.17E-4	ENSG00000183310	ENST00000328782	T	0.01838	4.61	2.34	2.34	0.29019	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12347	0.0300	H	0.94925	3.6	0.30526	N	0.767971	D	0.89917	1.0	D	0.97110	1.0	T	0.05903	-1.0857	9	0.87932	D	0	.	11.5675	0.50813	0.0:0.0:1.0:0.0	.	134	Q8NGX1	O2T34_HUMAN	S	134	ENSP00000330904:P134S	ENSP00000330904:P134S	P	-	1	0	OR2T34	246804282	1.000000	0.71417	0.003000	0.11579	0.143000	0.21401	7.414000	0.80117	1.154000	0.42482	0.389000	0.25775	CCT		0.557	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821	
BTBD3	22903	broad.mit.edu	37	20	11903989	11903989	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:11903989C>G	ENST00000405977.1	+	5	1869	c.1244C>G	c.(1243-1245)tCc>tGc	p.S415C	BTBD3_ENST00000378226.2_Missense_Mutation_p.S415C|BTBD3_ENST00000254977.3_Missense_Mutation_p.S354C|BTBD3_ENST00000399006.2_Missense_Mutation_p.S354C	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	415					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.S415C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						CTGTATGGCTCCAGCTGTGGT	0.517																																					p.S354C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1061G	20						.						84.0	75.0	78.0					20																	11903989		2203	4300	6503	11851989	SO:0001583	missense	22903	exon5			AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.1244C>G	20.37:g.11903989C>G	ENSP00000384545:p.Ser415Cys		11851989	NM_181443	D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116625	0.77323	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000378226	T;T;T;T	0.81078	-1.42;-1.42;-1.45;-1.45	6.17	6.17	0.99709	PHR (1);	0.000000	0.85682	D	0.000000	D	0.92176	0.7519	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92562	0.6059	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	415	Q9Y2F9	BTBD3_HUMAN	C	354;354;415;415	ENSP00000254977:S354C;ENSP00000381971:S354C;ENSP00000384545:S415C;ENSP00000367471:S415C	ENSP00000254977:S354C	S	+	2	0	BTBD3	11851989	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TCC		0.517	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3		
DZANK1	55184	broad.mit.edu	37	20	18445962	18445962	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:18445962A>G	ENST00000358866.6	-	1	63	c.41T>C	c.(40-42)tTa>tCa	p.L14S	POLR3F_ENST00000377603.4_5'Flank|DZANK1_ENST00000329494.5_Missense_Mutation_p.L14S|DZANK1_ENST00000262547.5_Missense_Mutation_p.L14S|DZANK1_ENST00000357236.4_5'UTR			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	14							zinc ion binding (GO:0008270)	p.L14S(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						AGGCACTCGTAATGGTATGAT	0.348																																					p.L14S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T41C	20						.						96.0	89.0	91.0					20																	18445962		1906	4123	6029	18393962	SO:0001583	missense	55184	exon2			AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.41T>C	20.37:g.18445962A>G	ENSP00000351734:p.Leu14Ser		18393962	NM_001099407	B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	ENST00000358866.6	37	CCDS46582.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.277721	0.80692	.	.	ENSG00000089091	ENST00000262547;ENST00000329494	T;T	0.69435	-0.4;0.28	5.53	5.53	0.82687	.	0.486098	0.15107	U	0.280193	T	0.79052	0.4381	L	0.55743	1.74	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.85130	0.997;0.906	T	0.79356	-0.1837	10	0.87932	D	0	-7.1862	14.644	0.68745	1.0:0.0:0.0:0.0	.	14;14	B7Z631;Q9NVP4	.;DZAN1_HUMAN	S	14	ENSP00000262547:L14S;ENSP00000328866:L14S	ENSP00000262547:L14S	L	-	2	0	C20orf12	18393962	1.000000	0.71417	0.997000	0.53966	0.921000	0.55340	6.983000	0.76180	2.091000	0.63221	0.533000	0.62120	TTA		0.348	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407	
CRNKL1	51340	broad.mit.edu	37	20	20018196	20018196	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:20018196T>C	ENST00000377340.2	-	14	2181	c.2150A>G	c.(2149-2151)cAg>cGg	p.Q717R	CRNKL1_ENST00000521379.1_Intron|CRNKL1_ENST00000536226.1_Missense_Mutation_p.Q556R|CRNKL1_ENST00000377327.4_Missense_Mutation_p.Q705R	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	717					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q717R(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CAACTCAAACTGAGCAAAGCT	0.323																																					p.Q717R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2150G	20						.						81.0	80.0	80.0					20																	20018196		2203	4300	6503	19966196	SO:0001583	missense	51340	exon14			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.2150A>G	20.37:g.20018196T>C	ENSP00000366557:p.Gln717Arg		19966196	NM_016652	A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.462949	0.43736	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.44881	1.39;1.39;0.91	5.02	5.02	0.67125	.	0.156200	0.64402	D	0.000019	T	0.32071	0.0817	L	0.28649	0.875	0.58432	D	0.999997	B	0.16396	0.017	B	0.13407	0.009	T	0.07558	-1.0766	10	0.25106	T	0.35	-11.1418	14.8926	0.70620	0.0:0.0:0.0:1.0	.	717	Q9BZJ0	CRNL1_HUMAN	R	705;717;556	ENSP00000366544:Q705R;ENSP00000366557:Q717R;ENSP00000440733:Q556R	ENSP00000366544:Q705R	Q	-	2	0	CRNKL1	19966196	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.621000	0.83083	2.098000	0.63641	0.397000	0.26171	CAG		0.323	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1		
CFAP61	26074	broad.mit.edu	37	20	20269417	20269417	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:20269417C>T	ENST00000245957.5	+	23	3037	c.2961C>T	c.(2959-2961)taC>taT	p.Y987Y	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		987								p.Y987Y(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCAATAGATACTACTCAAATG	0.463																																					p.Y987Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2961T	20						.						101.0	93.0	96.0					20																	20269417		2203	4300	6503	20217417	SO:0001819	synonymous_variant	26074	exon23																														ENST00000245957.5:c.2961C>T	20.37:g.20269417C>T			20217417	NM_015585	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	CCDS33447.1																																																																																				0.463	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3		
RALGAPA2	57186	broad.mit.edu	37	20	20493824	20493824	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:20493824T>C	ENST00000202677.7	-	32	4196	c.4189A>G	c.(4189-4191)Ata>Gta	p.I1397V		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1397					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.I1397V(1)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTGTGCAGTATGGCAGGGCCC	0.552																																					p.I1397V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4189G	20						.						36.0	36.0	36.0					20																	20493824		1962	4139	6101	20441824	SO:0001583	missense	57186	exon32			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4189A>G	20.37:g.20493824T>C	ENSP00000202677:p.Ile1397Val		20441824	NM_020343	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	T	0.021	-1.429716	0.01117	.	.	ENSG00000188559	ENST00000202677	T	0.29655	1.56	5.44	-0.659	0.11424	.	0.436673	0.25561	N	0.029839	T	0.13372	0.0324	N	0.04880	-0.145	0.23506	N	0.99754	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.24693	-1.0153	9	.	.	.	.	13.7112	0.62670	0.0:0.6834:0.0:0.3166	.	1235;1397;1397	A8MSM5;Q2PPJ7-2;Q2PPJ7	.;.;RGPA2_HUMAN	V	1397	ENSP00000202677:I1397V	.	I	-	1	0	RALGAPA2	20441824	0.204000	0.23447	0.288000	0.24862	0.528000	0.34623	0.230000	0.17852	-0.271000	0.09272	-0.326000	0.08463	ATA		0.552	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343	
THBD	7056	broad.mit.edu	37	20	23028478	23028478	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:23028478G>A	ENST00000377103.2	-	1	1900	c.1664C>T	c.(1663-1665)gCg>gTg	p.A555V		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	555					blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.A555V(1)		endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	GGAAGGGGCCGCGCACTTGTA	0.682																																					p.A555V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1664T	20						.						26.0	26.0	26.0					20																	23028478		2199	4297	6496	22976478	SO:0001583	missense	7056	exon1				CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"""CD molecules"""	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.1664C>T	20.37:g.23028478G>A	ENSP00000366307:p.Ala555Val		22976478	NM_000361	Q8IV29|Q9UC32	Missense_Mutation	SNP	ENST00000377103.2	37	CCDS13148.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520580	0.44866	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	T	0.80824	-1.42	5.51	-2.04	0.07343	.	0.584798	0.15866	N	0.240745	T	0.76421	0.3985	L	0.51422	1.61	0.09310	N	1	D	0.59767	0.986	P	0.45119	0.47	T	0.72693	-0.4216	10	0.49607	T	0.09	-8.1553	16.1702	0.81808	0.0:0.7195:0.1886:0.0919	.	555	P07204	TRBM_HUMAN	V	555;537	ENSP00000366307:A555V	ENSP00000366307:A555V	A	-	2	0	THBD	22976478	0.000000	0.05858	0.001000	0.08648	0.289000	0.27227	-0.011000	0.12721	-0.328000	0.08539	0.561000	0.74099	GCG		0.682	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2		
RALY	22913	broad.mit.edu	37	20	32665039	32665039	+	Silent	SNP	C	C	T	rs374165525		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:32665039C>T	ENST00000246194.3	+	8	1366	c.864C>T	c.(862-864)agC>agT	p.S288S	RALY_ENST00000375114.3_Silent_p.S272S	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	288					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S288S(1)		kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						TGACACACAGCGAGGAAGAGC	0.647																																					p.S288S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C864T	20						.	C	,	1,4399		0,1,2199	26.0	29.0	28.0		816,864	-4.5	0.9	20		28	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	RALY	NM_007367.3,NM_016732.2	,	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	,	272/291,288/307	32665039	1,12997	2200	4299	6499	32128700	SO:0001819	synonymous_variant	22913	exon8			AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"""RNA binding motif (RRM) containing"""	15921	protein-coding gene	gene with protein product		614663	"""RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)"", ""RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"""			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.864C>T	20.37:g.32665039C>T			32128700	NM_016732	Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Silent	SNP	ENST00000246194.3	37	CCDS13230.1																																																																																				0.647	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078753.1		
ACSS2	55902	broad.mit.edu	37	20	33513509	33513509	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:33513509C>T	ENST00000360596.2	+	15	1877	c.1666C>T	c.(1666-1668)Cgg>Tgg	p.R556W	ACSS2_ENST00000336325.4_Missense_Mutation_p.R506W|ACSS2_ENST00000476922.1_3'UTR|ACSS2_ENST00000253382.5_Missense_Mutation_p.R569W	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	556					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)	p.R556W(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGCTGCCAGCGGGACCAGGA	0.478																																					p.R556W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1666T	20						.						91.0	92.0	91.0					20																	33513509		2203	4300	6503	32977170	SO:0001583	missense	55902	exon15			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1666C>T	20.37:g.33513509C>T	ENSP00000353804:p.Arg556Trp		32977170	NM_018677	A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	37	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723761	0.68959	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.40225	1.04;1.04;1.04	4.91	1.7	0.24286	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.66597	0.2805	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74080	-0.3780	10	0.87932	D	0	-16.5357	13.6393	0.62241	0.5833:0.4167:0.0:0.0	.	569;556	Q5QPH3;Q9NR19	.;ACSA_HUMAN	W	506;556;554;264;569	ENSP00000337190:R506W;ENSP00000353804:R556W;ENSP00000253382:R569W	ENSP00000253382:R569W	R	+	1	2	ACSS2	32977170	0.994000	0.37717	0.999000	0.59377	0.972000	0.66771	1.818000	0.39012	0.656000	0.30886	-0.224000	0.12420	CGG		0.478	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677	
GSS	2937	broad.mit.edu	37	20	33524578	33524578	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:33524578C>T	ENST00000216951.2	-	8	853	c.755G>A	c.(754-756)cGa>cAa	p.R252Q	GSS_ENST00000451957.2_Missense_Mutation_p.R141Q|GSS_ENST00000541098.1_Missense_Mutation_p.R124Q	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	252					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.R252Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	AAACAGCCTTCGGTCTTGGTC	0.473																																					p.R252Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G755A	20						.						150.0	158.0	155.0					20																	33524578		2203	4300	6503	32988239	SO:0001583	missense	2937	exon8				CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.755G>A	20.37:g.33524578C>T	ENSP00000216951:p.Arg252Gln		32988239	NM_000178	B2R697|B6F210|E1P5P9|Q4TTD9	Missense_Mutation	SNP	ENST00000216951.2	37	CCDS13245.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238246	0.58886	.	.	ENSG00000100983	ENST00000216951;ENST00000541098;ENST00000451957	D;D;D	0.87334	-2.24;-2.24;-2.18	5.9	3.95	0.45737	PreATP-grasp-like fold (1);Glutathione synthase, substrate-binding, eukaryotic (2);	0.105732	0.64402	D	0.000014	T	0.82125	0.4969	L	0.55481	1.735	0.49582	D	0.999801	P;B	0.38300	0.626;0.244	B;B	0.35470	0.203;0.083	T	0.78814	-0.2056	10	0.44086	T	0.13	-1.5952	9.7384	0.40401	0.0:0.7849:0.0:0.2151	.	141;252	B6F210;P48637	.;GSHB_HUMAN	Q	252;124;141	ENSP00000216951:R252Q;ENSP00000439744:R124Q;ENSP00000407517:R141Q	ENSP00000216951:R252Q	R	-	2	0	GSS	32988239	0.968000	0.33430	1.000000	0.80357	0.995000	0.86356	1.702000	0.37836	0.812000	0.34326	0.561000	0.74099	CGA		0.473	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2		
CPNE1	8904	broad.mit.edu	37	20	34214276	34214276	+	Missense_Mutation	SNP	C	C	T	rs143661266		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:34214276C>T	ENST00000317619.3	-	18	1895	c.1501G>A	c.(1501-1503)Gtg>Atg	p.V501M	CPNE1_ENST00000397445.1_Missense_Mutation_p.V501M|CPNE1_ENST00000397443.1_Missense_Mutation_p.V501M|CPNE1_ENST00000317677.5_Missense_Mutation_p.V506M|CPNE1_ENST00000397446.1_Missense_Mutation_p.V501M|CPNE1_ENST00000397442.1_Missense_Mutation_p.V445M|CPNE1_ENST00000352393.4_Missense_Mutation_p.V501M			Q99829	CPNE1_HUMAN	copine I	501	VWFA.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.V501M(1)		breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCTGCGAGCACGGTCTGTGCC	0.587																																					p.V501M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1501A	20						.	C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	86.0	98.0	94.0		1498,1516,1501,1501,1501,1501	5.1	1.0	20	dbSNP_134	94	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	CPNE1	NM_001198863.1,NM_003915.5,NM_152925.2,NM_152926.2,NM_152927.2,NM_152928.2	21,21,21,21,21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	500/537,506/543,501/538,501/538,501/538,501/538	34214276	1,13005	2203	4300	6503	33677690	SO:0001583	missense	8904	exon17			U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.1501G>A	20.37:g.34214276C>T	ENSP00000326126:p.Val501Met		33677690	NM_152927	E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	ENST00000317619.3	37	CCDS13260.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532557	0.85812	2.27E-4	0.0	ENSG00000214078	ENST00000352393;ENST00000415920;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340	T;T;T;T;T;T;T;T	0.10668	3.14;3.12;3.14;3.14;3.14;3.14;2.85;3.01	5.14	5.14	0.70334	.	0.156761	0.41712	U	0.000839	T	0.38161	0.1030	M	0.84326	2.69	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.996;1.0;0.978;0.988;0.988	P;D;P;B;B	0.91635	0.621;0.999;0.531;0.267;0.285	T	0.24333	-1.0163	10	0.72032	D	0.01	-15.4151	17.5271	0.87803	0.0:1.0:0.0:0.0	.	506;445;501;481;500	B0QZ18;A6PVH9;Q99829;Q59EI4;F2Z2V0	.;.;CPNE1_HUMAN;.;.	M	501;141;506;501;501;501;501;445;500	ENSP00000336945:V501M;ENSP00000317257:V506M;ENSP00000326126:V501M;ENSP00000380588:V501M;ENSP00000380587:V501M;ENSP00000380585:V501M;ENSP00000380584:V445M;ENSP00000415597:V500M	ENSP00000326126:V501M	V	-	1	0	CPNE1	33677690	1.000000	0.71417	0.993000	0.49108	0.574000	0.36063	7.574000	0.82434	2.668000	0.90789	0.462000	0.41574	GTG		0.587	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3	NM_152930	
EPB41L1	2036	broad.mit.edu	37	20	34783254	34783254	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:34783254G>T	ENST00000338074.2	+	13	1614	c.1453G>T	c.(1453-1455)Gag>Tag	p.E485*	EPB41L1_ENST00000441639.1_Intron|EPB41L1_ENST00000202028.5_Intron|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373950.2_Intron|EPB41L1_ENST00000373941.1_Nonsense_Mutation_p.E485*	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	485	Spectrin--actin-binding.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.E485*(1)|p.E59*(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CCACTAGCCGGAGCAGGAAAC	0.572																																					p.E485X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1453T	20						.						260.0	188.0	213.0					20																	34783254		2203	4300	6503	34246668	SO:0001587	stop_gained	2036	exon13			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1453G>T	20.37:g.34783254G>T	ENSP00000337168:p.Glu485*		34246668	NM_012156	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Nonsense_Mutation	SNP	ENST00000338074.2	37	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	G	40	8.296594	0.98747	.	.	ENSG00000088367	ENST00000397315;ENST00000344237;ENST00000338074;ENST00000373941	.	.	.	5.22	5.22	0.72569	.	0.516425	0.19519	N	0.112338	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	17.7783	0.88516	0.0:0.0:1.0:0.0	.	.	.	.	X	485;59;485;485	.	ENSP00000337168:E485X	E	+	1	0	EPB41L1	34246668	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.284000	0.78650	2.427000	0.82271	0.460000	0.39030	GAG		0.572	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156	
SOGA1	140710	broad.mit.edu	37	20	35425352	35425352	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:35425352G>A	ENST00000357779.3	-	13	3027	c.2701C>T	c.(2701-2703)Cgc>Tgc	p.R901C	SOGA1_ENST00000456801.2_Missense_Mutation_p.R742C|SOGA1_ENST00000279034.6_Missense_Mutation_p.R901C|SOGA1_ENST00000237536.4_Missense_Mutation_p.R1139C			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	901					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R901C(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TTCTCACTGCGTGTCTGTCAA	0.542																																					p.R1139C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3415T	20						.						95.0	99.0	98.0					20																	35425352		2090	4212	6302	34858766	SO:0001583	missense	140710	exon13			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.2701C>T	20.37:g.35425352G>A	ENSP00000350424:p.Arg901Cys		34858766	NM_080627	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37		.	.	.	.	.	.	.	.	.	.	G	19.80	3.895340	0.72639	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.15	3.16	0.36331	.	0.971136	0.08541	N	0.930583	T	0.28532	0.0706	N	0.08118	0	0.22771	N	0.998759	B	0.02656	0.0	B	0.04013	0.001	T	0.21724	-1.0237	10	0.54805	T	0.06	-4.1966	7.5916	0.28025	0.0847:0.0:0.7523:0.163	.	901	O94964-4	.	C	1139;901;742;901	ENSP00000237536:R1139C;ENSP00000279034:R901C;ENSP00000413886:R742C;ENSP00000350424:R901C	ENSP00000237536:R1139C	R	-	1	0	KIAA0889	34858766	0.492000	0.26027	0.216000	0.23742	0.893000	0.52053	2.822000	0.48073	0.724000	0.32296	-0.291000	0.09656	CGC		0.542	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181	
SOGA1	140710	broad.mit.edu	37	20	35431429	35431429	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:35431429G>C	ENST00000357779.3	-	11	2781	c.2455C>G	c.(2455-2457)Cag>Gag	p.Q819E	SOGA1_ENST00000456801.2_Missense_Mutation_p.Q660E|SOGA1_ENST00000279034.6_Missense_Mutation_p.Q819E|SOGA1_ENST00000237536.4_Missense_Mutation_p.Q1057E			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	819					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.Q819E(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						AGGTGCTGCTGCTCCTCACGC	0.632																																					p.Q1057E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3169G	20						.						24.0	27.0	26.0					20																	35431429		2189	4285	6474	34864843	SO:0001583	missense	140710	exon11			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.2455C>G	20.37:g.35431429G>C	ENSP00000350424:p.Gln819Glu		34864843	NM_080627	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37		.	.	.	.	.	.	.	.	.	.	G	20.6	4.025788	0.75390	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.18502	2.21;2.21;2.26;2.22	5.06	5.06	0.68205	.	0.050906	0.85682	D	0.000000	T	0.14787	0.0357	N	0.19112	0.55	0.44523	D	0.997478	P	0.44090	0.826	P	0.46320	0.512	T	0.03619	-1.1019	10	0.07990	T	0.79	-39.2016	17.353	0.87329	0.0:0.0:1.0:0.0	.	819	O94964-4	.	E	1057;819;660;819	ENSP00000237536:Q1057E;ENSP00000279034:Q819E;ENSP00000413886:Q660E;ENSP00000350424:Q819E	ENSP00000237536:Q1057E	Q	-	1	0	KIAA0889	34864843	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.366000	0.97143	2.621000	0.88768	0.563000	0.77884	CAG		0.632	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181	
TOP1	7150	broad.mit.edu	37	20	39690066	39690066	+	Silent	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:39690066C>A	ENST00000361337.2	+	3	341	c.91C>A	c.(91-93)Cga>Aga	p.R31R		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	31	Lys-rich.				chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)	p.R31R(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	acacaaagatCGAGAACACCG	0.433			T	NUP98	AML*																																p.R31R			Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C91A	20						.						100.0	90.0	93.0					20																	39690066		2203	4300	6503	39123480	SO:0001819	synonymous_variant	7150	exon3				CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.91C>A	20.37:g.39690066C>A			39123480	NM_003286	A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Silent	SNP	ENST00000361337.2	37	CCDS13312.1																																																																																				0.433	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2		
PTPRT	11122	broad.mit.edu	37	20	40733250	40733250	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:40733250C>T	ENST00000373187.1	-	25	3498	c.3499G>A	c.(3499-3501)Gac>Aac	p.D1167N	PTPRT_ENST00000373198.4_Missense_Mutation_p.D1186N|PTPRT_ENST00000373201.1_Missense_Mutation_p.D1157N|PTPRT_ENST00000356100.2_Missense_Mutation_p.D1176N|PTPRT_ENST00000373193.3_Missense_Mutation_p.D1170N|PTPRT_ENST00000373190.1_Missense_Mutation_p.D1166N|PTPRT_ENST00000373184.1_Missense_Mutation_p.D1177N			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1167					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.D1189N(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTCTGGGGGTCCAGCCTGCTG	0.483																																					p.D1186N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3556A	20						.						123.0	123.0	123.0					20																	40733250		1965	4160	6125	40166664	SO:0001583	missense	11122	exon26			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3499G>A	20.37:g.40733250C>T	ENSP00000362283:p.Asp1167Asn		40166664	NM_133170	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	36	5.598844	0.96614	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57;2.57	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.35885	0.0947	L	0.58101	1.795	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.72338	0.977;0.926	T	0.07424	-1.0773	10	0.87932	D	0	.	18.7326	0.91741	0.0:1.0:0.0:0.0	.	1189;1167	O14522-1;O14522	.;PTPRT_HUMAN	N	1166;1167;1170;1176;1189;1177;1157	ENSP00000362286:D1166N;ENSP00000362283:D1167N;ENSP00000362289:D1170N;ENSP00000348408:D1176N;ENSP00000362294:D1189N;ENSP00000362280:D1177N;ENSP00000362297:D1157N	ENSP00000348408:D1176N	D	-	1	0	PTPRT	40166664	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.431000	0.82371	0.655000	0.94253	GAC		0.483	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
SMOX	54498	broad.mit.edu	37	20	4163386	4163386	+	Silent	SNP	C	C	T	rs139432235		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:4163386C>T	ENST00000305958.4	+	5	1485	c.1260C>T	c.(1258-1260)taC>taT	p.Y420Y	SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_Silent_p.Y367Y|SMOX_ENST00000339123.6_Silent_p.Y367Y|SMOX_ENST00000379460.2_Silent_p.Y420Y	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	420					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)	p.Y420Y(1)|p.Y367Y(1)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	CTGAGCGCTACGGCCATGTGC	0.622																																					p.Y367Y												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1101T	20						.	C	,,,	0,4406		0,0,2203	96.0	85.0	89.0		1260,1101,,1101	-8.6	0.1	20	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron,coding-synonymous	SMOX	NM_175839.1,NM_175840.1,NM_175841.1,NM_175842.1	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	420/556,367/503,,367/533	4163386	1,13005	2203	4300	6503	4111386	SO:0001819	synonymous_variant	54498	exon6			AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.1260C>T	20.37:g.4163386C>T			4111386	NM_175840	A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Silent	SNP	ENST00000305958.4	37	CCDS13075.1																																																																																				0.622	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842	
PTPRT	11122	broad.mit.edu	37	20	40739031	40739031	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:40739031C>T	ENST00000373187.1	-	23	3195	c.3196G>A	c.(3196-3198)Gtc>Atc	p.V1066I	PTPRT_ENST00000373198.4_Missense_Mutation_p.V1085I|PTPRT_ENST00000373201.1_Missense_Mutation_p.V1056I|PTPRT_ENST00000356100.2_Missense_Mutation_p.V1075I|PTPRT_ENST00000373193.3_Missense_Mutation_p.V1069I|PTPRT_ENST00000373190.1_Missense_Mutation_p.V1065I|PTPRT_ENST00000373184.1_Missense_Mutation_p.V1076I			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1066	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.V1088I(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACCTGGCGGACGAAGCCCAGA	0.622																																					p.V1085I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3253A	20						.						53.0	62.0	59.0					20																	40739031		1961	4137	6098	40172445	SO:0001583	missense	11122	exon24			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3196G>A	20.37:g.40739031C>T	ENSP00000362283:p.Val1066Ile		40172445	NM_133170	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	5.648	0.304134	0.10678	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73	4.8	3.86	0.44501	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.140936	0.49916	N	0.000133	T	0.09555	0.0235	N	0.04203	-0.255	0.46376	D	0.999012	B;B	0.16166	0.016;0.011	B;B	0.12156	0.004;0.007	T	0.15636	-1.0430	10	0.02654	T	1	.	9.7909	0.40706	0.0:0.8421:0.0:0.1579	.	1088;1066	O14522-1;O14522	.;PTPRT_HUMAN	I	1065;1066;1069;1075;1088;1076;1056	ENSP00000362286:V1065I;ENSP00000362283:V1066I;ENSP00000362289:V1069I;ENSP00000348408:V1075I;ENSP00000362294:V1088I;ENSP00000362280:V1076I;ENSP00000362297:V1056I	ENSP00000348408:V1075I	V	-	1	0	PTPRT	40172445	0.987000	0.35691	0.973000	0.42090	0.965000	0.64279	2.595000	0.46197	1.151000	0.42436	-0.150000	0.13652	GTC		0.622	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
MMP9	4318	broad.mit.edu	37	20	44641994	44641994	+	Silent	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:44641994C>A	ENST00000372330.3	+	9	1450	c.1431C>A	c.(1429-1431)ccC>ccA	p.P477P	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	477					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P477P(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CTGTCCACCCCTCAGAGCgcc	0.706											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P477P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1431A	20						.						26.0	35.0	32.0					20																	44641994		2196	4287	6483	44075401	SO:0001819	synonymous_variant	4318	exon9				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1431C>A	20.37:g.44641994C>A		925	44075401	NM_004994	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	ENST00000372330.3	37	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	C	4.198	0.035424	0.08148	.	.	ENSG00000100985	ENST00000545925	.	.	.	4.56	2.58	0.30949	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4049	0.16316	0.1593:0.664:0.0:0.1766	.	.	.	.	.	-1	.	.	.	+	.	.	MMP9	44075401	0.110000	0.22057	0.440000	0.26846	0.407000	0.30961	1.012000	0.29924	1.139000	0.42245	0.655000	0.94253	.		0.706	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1		
NCOA3	8202	broad.mit.edu	37	20	46264965	46264965	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:46264965C>A	ENST00000371998.3	+	12	2026	c.1835C>A	c.(1834-1836)cCt>cAt	p.P612H	NCOA3_ENST00000372004.3_Missense_Mutation_p.P612H|NCOA3_ENST00000371997.3_Missense_Mutation_p.P622H|NCOA3_ENST00000341724.6_Missense_Mutation_p.P622H			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	612	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.P612H(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAAAGGGGTCCTTTGGAAAGC	0.458																																					p.P612H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1835A	20						.						62.0	56.0	58.0					20																	46264965		2203	4300	6503	45698372	SO:0001583	missense	8202	exon12			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.1835C>A	20.37:g.46264965C>A	ENSP00000361066:p.Pro612His		45698372	NM_001174087	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676031	0.47886	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.02140	4.43;4.63;4.63;4.45	5.83	4.86	0.63082	.	0.156614	0.45126	D	0.000395	T	0.06826	0.0174	L	0.44542	1.39	0.09310	N	1	P;D;P;P;P;B	0.63880	0.819;0.993;0.819;0.904;0.886;0.014	P;P;B;P;P;B	0.59643	0.608;0.861;0.416;0.535;0.725;0.01	T	0.06570	-1.0819	10	0.66056	D	0.02	-12.8051	14.253	0.66033	0.3669:0.6331:0.0:0.0	.	612;622;616;612;612;612	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	H	612;622;612;612;622	ENSP00000342123:P622H;ENSP00000361073:P612H;ENSP00000361066:P612H;ENSP00000361065:P622H	ENSP00000345671:P612H	P	+	2	0	NCOA3	45698372	0.930000	0.31532	0.909000	0.35828	0.988000	0.76386	2.685000	0.46959	2.749000	0.94314	0.655000	0.94253	CCT		0.458	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	
STAU1	6780	broad.mit.edu	37	20	47733750	47733750	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:47733750G>A	ENST00000371856.2	-	12	1955	c.1545C>T	c.(1543-1545)aaC>aaT	p.N515N	STAU1_ENST00000347458.5_Silent_p.N434N|STAU1_ENST00000360426.4_Silent_p.N434N|STAU1_ENST00000371792.1_Silent_p.N432N|STAU1_ENST00000371828.3_Silent_p.N440N|STAU1_ENST00000340954.7_Silent_p.N434N|STAU1_ENST00000371802.1_Silent_p.N440N	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	515					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.N515N(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			ATACAAATTCGTTCTTGTTGT	0.488																																					p.N434N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1302T	20						.						236.0	222.0	227.0					20																	47733750		2203	4300	6503	47167157	SO:0001819	synonymous_variant	6780	exon11				CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1545C>T	20.37:g.47733750G>A			47167157	NM_017452	A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Silent	SNP	ENST00000371856.2	37	CCDS13414.1																																																																																				0.488	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453	
DDX27	55661	broad.mit.edu	37	20	47845326	47845326	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:47845326G>A	ENST00000371764.4	+	8	883	c.874G>A	c.(874-876)Gtg>Atg	p.V292M	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	292	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.V292M(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGTCACCCGCGTGCTGGTGCT	0.607																																					p.V292M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G874A	20						.						91.0	94.0	93.0					20																	47845326		2203	4300	6503	47278733	SO:0001583	missense	55661	exon8			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.874G>A	20.37:g.47845326G>A	ENSP00000360828:p.Val292Met		47278733	NM_017895	A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.549937	0.65311	.	.	ENSG00000124228	ENST00000371764	T	0.17213	2.29	5.66	5.66	0.87406	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.41604	0.1166	M	0.65677	2.01	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	T	0.16808	-1.0390	10	0.87932	D	0	-28.0984	17.2377	0.87004	0.0:0.0:1.0:0.0	.	292	Q96GQ7	DDX27_HUMAN	M	292	ENSP00000360828:V292M	ENSP00000360828:V292M	V	+	1	0	DDX27	47278733	1.000000	0.71417	0.958000	0.39756	0.082000	0.17680	9.620000	0.98373	2.669000	0.90835	0.655000	0.94253	GTG		0.607	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1		
ZNFX1	57169	broad.mit.edu	37	20	47887747	47887747	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:47887747C>T	ENST00000396105.1	-	3	848	c.602G>A	c.(601-603)cGc>cAc	p.R201H	ZNFX1_ENST00000371754.4_Missense_Mutation_p.R201H|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R201H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	201							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R201H(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AACACTCTGGCGATCCATTTT	0.453																																					p.R201H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G602A	20						.						130.0	134.0	133.0					20																	47887747		2203	4300	6503	47321154	SO:0001583	missense	57169	exon3			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.602G>A	20.37:g.47887747C>T	ENSP00000379412:p.Arg201His		47321154	NM_021035	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569896	0.28003	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	T;T;T;T;D	0.86230	-0.82;-0.82;-0.82;-0.82;-2.09	5.86	4.92	0.64577	.	0.105044	0.64402	D	0.000005	D	0.90256	0.6953	L	0.49350	1.555	0.48901	D	0.99972	D	0.89917	1.0	D	0.68621	0.959	D	0.88591	0.3143	10	0.30078	T	0.28	-22.9015	13.753	0.62919	0.0:0.9257:0.0:0.0743	.	201	Q9P2E3	ZNFX1_HUMAN	H	201;201;201;201;201;5	ENSP00000360819:R201H;ENSP00000360817:R201H;ENSP00000379412:R201H;ENSP00000360809:R201H;ENSP00000413800:R5H	ENSP00000360809:R201H	R	-	2	0	ZNFX1	47321154	1.000000	0.71417	0.989000	0.46669	0.150000	0.21749	6.060000	0.71141	1.490000	0.48466	-0.140000	0.14226	CGC		0.453	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035	
ZFP64	55734	broad.mit.edu	37	20	50769312	50769312	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:50769312C>T	ENST00000216923.4	-	6	1768	c.1419G>A	c.(1417-1419)acG>acA	p.T473T	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Silent_p.T471T|ZFP64_ENST00000346617.4_Silent_p.T419T	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	473					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.T473T(4)|p.L475fs*45(2)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CAGTGAGGGGCGTGGCGGGCT	0.602																																					p.T473T												.	.	6	Substitution - coding silent(4)|Deletion - Frameshift(2)	large_intestine(4)|ovary(2)	c.G1419A	20						.						53.0	46.0	48.0					20																	50769312		2201	4297	6498	50202719	SO:0001819	synonymous_variant	55734	exon6			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1419G>A	20.37:g.50769312C>T			50202719	NM_018197	Q9NTS7|Q9NVH4	Silent	SNP	ENST00000216923.4	37	CCDS13440.1																																																																																				0.602	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197	
ZFP64	55734	broad.mit.edu	37	20	50769623	50769623	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:50769623G>T	ENST00000216923.4	-	6	1457	c.1108C>A	c.(1108-1110)Cct>Act	p.P370T	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.P368T|ZFP64_ENST00000346617.4_Missense_Mutation_p.P316T	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	370					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.P370T(2)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CACTTGAAAGGGCGGTCGGTG	0.572																																					p.P370T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1108A	20						.						131.0	116.0	122.0					20																	50769623		2203	4300	6503	50203030	SO:0001583	missense	55734	exon6			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1108C>A	20.37:g.50769623G>T	ENSP00000216923:p.Pro370Thr		50203030	NM_018197	Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.522698	0.44866	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T	0.10192	2.92;2.96;2.9	5.77	4.82	0.62117	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000018	T	0.38585	0.1046	M	0.87971	2.92	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.997	T	0.45175	-0.9279	10	0.87932	D	0	-25.7014	14.5395	0.67982	0.0701:0.0:0.9299:0.0	.	316;368;370	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	T	370;316;368;212;523	ENSP00000216923:P370T;ENSP00000344615:P316T;ENSP00000360570:P368T	ENSP00000216923:P370T	P	-	1	0	ZFP64	50203030	1.000000	0.71417	0.998000	0.56505	0.029000	0.11900	9.869000	0.99810	1.436000	0.47453	0.591000	0.81541	CCT		0.572	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197	
BMP7	655	broad.mit.edu	37	20	55746025	55746025	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:55746025C>T	ENST00000395863.3	-	7	1791	c.1286G>A	c.(1285-1287)gGc>gAc	p.G429D	BMP7_ENST00000460817.1_5'Flank|BMP7_ENST00000395864.3_Missense_Mutation_p.G363D	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	429					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)	p.G429D(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CTAGTGGCAGCCACAGGCCCG	0.552																																					p.G429D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1286A	20						.						50.0	43.0	45.0					20																	55746025		2203	4300	6503	55179432	SO:0001583	missense	655	exon7				CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.1286G>A	20.37:g.55746025C>T	ENSP00000379204:p.Gly429Asp		55179432	NM_001719	Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	C	34	5.322449	0.95708	.	.	ENSG00000101144	ENST00000395863;ENST00000395864	D;D	0.86627	-2.15;-2.15	5.47	5.47	0.80525	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96278	0.8786	H	0.97415	4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97577	1.0108	10	0.87932	D	0	.	19.3422	0.94347	0.0:1.0:0.0:0.0	.	363;429	B1AKZ9;P18075	.;BMP7_HUMAN	D	429;363	ENSP00000379204:G429D;ENSP00000379205:G363D	ENSP00000379204:G429D	G	-	2	0	BMP7	55179432	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.711000	0.84669	2.567000	0.86603	0.655000	0.94253	GGC		0.552	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2		
ZNF831	128611	broad.mit.edu	37	20	57782044	57782044	+	Silent	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:57782044C>A	ENST00000371030.2	+	3	3960	c.3960C>A	c.(3958-3960)cgC>cgA	p.R1320R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1320							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R1320R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GAAGAAGCCGCCACCCTCCCG	0.542																																					p.R1320R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3960A	20						.						74.0	79.0	78.0					20																	57782044		1956	4154	6110	57215439	SO:0001819	synonymous_variant	128611	exon3			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3960C>A	20.37:g.57782044C>A			57215439	NM_178457	Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	CCDS42894.1																																																																																				0.542	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
PPP1R3D	5509	broad.mit.edu	37	20	58514139	58514139	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:58514139G>A	ENST00000370996.3	-	1	1213	c.848C>T	c.(847-849)gCg>gTg	p.A283V	FAM217B_ENST00000358293.3_Intron|FAM217B_ENST00000360816.3_5'Flank	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	283					dephosphorylation (GO:0016311)|glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)	protein serine/threonine phosphatase activity (GO:0004722)	p.A283V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CATGTGCAGCGCGTGGTTGCG	0.657																																					p.A283V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C848T	20						.						47.0	47.0	47.0					20																	58514139		2203	4300	6503	57947534	SO:0001583	missense	5509	exon1			Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9294	protein-coding gene	gene with protein product		603326	"""protein phosphatase 1, regulatory (inhibitor) subunit 3D"""	PPP1R6		9414128, 9275233	Standard	NM_006242		Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.848C>T	20.37:g.58514139G>A	ENSP00000360035:p.Ala283Val		57947534	NM_006242	Q6DK02	Missense_Mutation	SNP	ENST00000370996.3	37	CCDS13483.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856332	0.51376	.	.	ENSG00000132825	ENST00000370996	T	0.56776	0.44	5.12	4.16	0.48862	.	0.348066	0.23784	N	0.044600	T	0.32793	0.0841	N	0.19112	0.55	0.32169	N	0.581966	P	0.41710	0.76	B	0.28011	0.085	T	0.41556	-0.9502	10	0.39692	T	0.17	-19.7856	14.9017	0.70684	0.0:0.0:0.8555:0.1445	.	283	O95685	PPR3D_HUMAN	V	283	ENSP00000360035:A283V	ENSP00000360035:A283V	A	-	2	0	PPP1R3D	57947534	0.995000	0.38212	0.878000	0.34440	0.527000	0.34593	2.572000	0.45999	1.131000	0.42111	0.561000	0.74099	GCG		0.657	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079940.2	NM_006242	
CDH26	60437	broad.mit.edu	37	20	58547177	58547177	+	Splice_Site	SNP	C	C	T	rs112379790	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:58547177C>T	ENST00000244047.5	+	4	703	c.392C>T	c.(391-393)aCg>aTg	p.T131M	CDH26_ENST00000348616.4_Splice_Site_p.T131M			Q8IXH8	CAD26_HUMAN	cadherin 26	131	Cadherin 1. {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.T131M(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CCATCTTTCACGGTATCTAAA	0.388																																					p.T131M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C392T	20						.						99.0	90.0	93.0					20																	58547177		2203	4300	6503	57980572	SO:0001630	splice_region_variant	60437	exon4			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.393+1C>T	20.37:g.58547177C>T			57980572	NM_177980	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37		.	.	.	.	.	.	.	.	.	.	C	1.483	-0.556574	0.03967	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.61980	0.06;0.06	5.13	-10.3	0.00346	.	1.040100	0.07424	N	0.894603	T	0.33585	0.0868	N	0.04746	-0.17	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.46034	-0.9220	10	0.44086	T	0.13	.	10.188	0.43009	0.1636:0.4871:0.0:0.3493	.	131	Q8IXH8-4	.	M	131	ENSP00000244047:T131M;ENSP00000339390:T131M	ENSP00000244047:T131M	T	+	2	0	CDH26	57980572	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.231000	0.01206	-3.333000	0.00185	-1.952000	0.00485	ACG		0.388	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980	Missense_Mutation
CDH4	1002	broad.mit.edu	37	20	60485521	60485521	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:60485521C>A	ENST00000360469.5	+	9	1320	c.1232C>A	c.(1231-1233)gCa>gAa	p.A411E	CDH4_ENST00000543233.1_Missense_Mutation_p.A337E	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	411	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A411E(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACCGTGGTCGCAAACCTCACG	0.542																																					p.A411E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1232A	20						.						109.0	86.0	94.0					20																	60485521		2203	4300	6503	59918916	SO:0001583	missense	1002	exon9			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1232C>A	20.37:g.60485521C>A	ENSP00000353656:p.Ala411Glu		59918916	NM_001794	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467728	0.63625	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.54071	0.59;0.59	4.66	4.66	0.58398	Cadherin (3);Cadherin-like (1);	0.109676	0.64402	D	0.000009	T	0.75679	0.3882	M	0.86651	2.83	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.80562	-0.1327	9	.	.	.	.	17.1368	0.86742	0.0:1.0:0.0:0.0	.	411	P55283	CADH4_HUMAN	E	411;319;337	ENSP00000353656:A411E;ENSP00000443301:A337E	.	A	+	2	0	CDH4	59918916	1.000000	0.71417	0.316000	0.25252	0.217000	0.24651	5.549000	0.67261	2.145000	0.66743	0.556000	0.70494	GCA		0.542	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794	
TAF4	6874	broad.mit.edu	37	20	60589748	60589748	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:60589748C>T	ENST00000252996.4	-	2	1375	c.1376G>A	c.(1375-1377)cGa>cAa	p.R459Q	TAF4_ENST00000609045.1_5'Flank	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	459					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.R459Q(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ATTCTCACTTCGGACGAGGAC	0.622																																					p.R459Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G1376A	20						.						92.0	84.0	86.0					20																	60589748		2203	4300	6503	60023143	SO:0001583	missense	6874	exon2			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1376G>A	20.37:g.60589748C>T	ENSP00000252996:p.Arg459Gln		60023143	NM_003185	A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	c	11.47	1.647822	0.29336	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.35048	1.38;1.33	4.97	4.03	0.46877	.	0.134840	0.51477	D	0.000098	T	0.28167	0.0695	L	0.58583	1.82	0.54753	D	0.999989	P	0.52577	0.954	B	0.33568	0.166	T	0.17258	-1.0375	10	0.11485	T	0.65	-14.6762	15.4837	0.75548	0.0:0.8606:0.1394:0.0	.	459	O00268	TAF4_HUMAN	Q	459;323	ENSP00000252996:R459Q;ENSP00000399091:R323Q	ENSP00000252996:R459Q	R	-	2	0	TAF4	60023143	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	5.365000	0.66116	1.103000	0.41568	-0.358000	0.07595	CGA		0.622	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185	
DIDO1	11083	broad.mit.edu	37	20	61526425	61526425	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:61526425C>T	ENST00000266070.4	-	9	2632	c.2307G>A	c.(2305-2307)acG>acA	p.T769T	DIDO1_ENST00000395335.2_Silent_p.T769T|DIDO1_ENST00000395340.1_Silent_p.T769T|DIDO1_ENST00000395343.1_Silent_p.T769T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	769	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				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.T769T(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)					TCTCTTTCCACGTGGAAAGCT	0.478																																					p.T769T	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2307A	20						.						162.0	178.0	173.0					20																	61526425		2203	4300	6503	60996870	SO:0001819	synonymous_variant	11083	exon9			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.2307G>A	20.37:g.61526425C>T			60996870	NM_001193370	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	CCDS33506.1																																																																																				0.478	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
KIF16B	55614	broad.mit.edu	37	20	16360401	16360401	+	Frame_Shift_Del	DEL	T	T	-	rs35229389		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:16360401delT	ENST00000354981.2	-	19	2403	c.2246delA	c.(2245-2247)aagfs	p.K749fs	KIF16B_ENST00000408042.1_Frame_Shift_Del_p.K749fs|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Frame_Shift_Del_p.K749fs	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	749	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.K749fs*3(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTCTAGTCTCTTTTTTTCCAG	0.498																																					p.K749fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2246delA	20						.						158.0	144.0	149.0					20																	16360401		2203	4300	6503	16308401	SO:0001589	frameshift_variant	55614	exon19			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2246delA	20.37:g.16360401delT	ENSP00000347076:p.Lys749fs		16308401	NM_024704	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Frame_Shift_Del	DEL	ENST00000354981.2	37	CCDS13122.1																																																																																				0.498	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	
ZNF512B	57473	broad.mit.edu	37	20	62630972	62630972	+	Intron	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr20:62630972C>T	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Nonsense_Mutation_p.R295*			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						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.R295*(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAAGAAGGCGCGACTGCTCCT	0.587																																					p.R295X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C883T	20						.						128.0	116.0	120.0					20																	62630972		2203	4300	6503	62101416	SO:0001627	intron_variant	24148	exon8			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-31664G>A	20.37:g.62630972C>T			62101416	NM_012469	Q08AK9|Q9ULM4	Nonsense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	37	5.989450	0.97179	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	.	.	.	5.54	3.56	0.40772	.	0.104253	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8678	14.5168	0.67824	0.2975:0.7024:0.0:0.0	.	.	.	.	X	295	.	ENSP00000266079:R295X	R	+	1	2	PRPF6	62101416	1.000000	0.71417	0.063000	0.19743	0.547000	0.35210	4.415000	0.59809	0.652000	0.30806	-0.283000	0.09986	CGA		0.587	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713	
POTED	317754	broad.mit.edu	37	21	14982774	14982774	+	Missense_Mutation	SNP	C	C	A	rs201363610		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr21:14982774C>A	ENST00000299443.5	+	1	277	c.225C>A	c.(223-225)agC>agA	p.S75R		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	75						plasma membrane (GO:0005886)		p.S75R(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						GCAGGGGGAGCGGCACGAGCA	0.562																																					p.S75R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C225A	21						.						2.0	3.0	3.0					21																	14982774		299	1675	1974	13904645	SO:0001583	missense	317754	exon1			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.225C>A	21.37:g.14982774C>A	ENSP00000299443:p.Ser75Arg		13904645	NM_174981	C9JCF7	Missense_Mutation	SNP	ENST00000299443.5	37	CCDS13562.1	.	.	.	.	.	.	.	.	.	.	C	3.321	-0.138759	0.06669	.	.	ENSG00000166351	ENST00000299443	T	0.36157	1.27	.	.	.	.	.	.	.	.	T	0.33818	0.0876	L	0.61218	1.895	0.09310	N	1	P	0.44690	0.841	P	0.44477	0.451	T	0.19484	-1.0304	7	0.22109	T	0.4	.	.	.	.	.	75	Q86YR6	POTED_HUMAN	R	75	ENSP00000299443:S75R	ENSP00000299443:S75R	S	+	3	2	POTED	13904645	0.036000	0.19791	0.029000	0.17559	0.029000	0.11900	-0.360000	0.07622	0.119000	0.18210	0.121000	0.15741	AGC		0.562	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981	
CHODL	140578	broad.mit.edu	37	21	19628948	19628948	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr21:19628948C>A	ENST00000299295.2	+	2	593	c.202C>A	c.(202-204)Ctc>Atc	p.L68I	CHODL_ENST00000338326.3_Missense_Mutation_p.L27I|CHODL_ENST00000400127.1_Missense_Mutation_p.L27I|CHODL_ENST00000400135.1_Missense_Mutation_p.L27I|CHODL_ENST00000543733.1_Missense_Mutation_p.L49I|CHODL_ENST00000400128.1_Missense_Mutation_p.L27I|CHODL_ENST00000400131.1_Missense_Mutation_p.L27I	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	68	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)	p.L68I(1)		kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		GGGAGGAGTCCTCCTCAGCCT	0.498																																					p.L68I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C202A	21						.						74.0	76.0	76.0					21																	19628948		2203	4300	6503	18550819	SO:0001583	missense	140578	exon2			AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"""chromosome 21 open reading frame 68"""	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.202C>A	21.37:g.19628948C>A	ENSP00000299295:p.Leu68Ile		18550819	NM_024944	B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Missense_Mutation	SNP	ENST00000299295.2	37	CCDS13570.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664151	0.88251	.	.	ENSG00000154645	ENST00000427223;ENST00000452759;ENST00000465099;ENST00000400128;ENST00000400131;ENST00000400135;ENST00000400127;ENST00000299295;ENST00000338326;ENST00000543733	T;T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	5.54	5.54	0.83059	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	D	0.91300	0.7257	M	0.92604	3.325	0.58432	D	0.999997	D;D;D	0.89917	0.979;1.0;1.0	P;D;D	0.87578	0.853;0.998;0.99	D	0.92499	0.6007	9	.	.	.	-6.1365	12.1604	0.54101	0.0:0.9129:0.0:0.0871	.	68;49;27	Q9H9P2;B4DJB8;Q9H9P2-3	CHODL_HUMAN;.;.	I	27;27;27;27;27;27;27;68;27;49	ENSP00000382993:L27I;ENSP00000382996:L27I;ENSP00000383001:L27I;ENSP00000382992:L27I;ENSP00000299295:L68I;ENSP00000339975:L27I;ENSP00000443566:L49I	.	L	+	1	0	CHODL	18550819	0.979000	0.34478	0.978000	0.43139	0.981000	0.71138	2.420000	0.44679	2.763000	0.94921	0.650000	0.86243	CTC		0.498	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158232.1	NM_024944	
ADAMTS5	11096	broad.mit.edu	37	21	28327084	28327084	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr21:28327084G>A	ENST00000284987.5	-	2	1332	c.1211C>T	c.(1210-1212)gCa>gTa	p.A404V	MIR4759_ENST00000584048.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	404	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A404E(1)|p.A404V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AGTGAAGGCTGCGTGGAGGCC	0.502																																					p.A404V	Esophageal Squamous(53;683 1080 10100 14424 45938)											.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1211T	21						.						121.0	112.0	115.0					21																	28327084		2203	4300	6503	27248955	SO:0001583	missense	11096	exon2			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1211C>T	21.37:g.28327084G>A	ENSP00000284987:p.Ala404Val		27248955	NM_007038	Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	35	5.460211	0.96240	.	.	ENSG00000154736	ENST00000284987	T	0.60424	0.19	5.18	5.18	0.71444	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.63343	0.2503	N	0.17764	0.52	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	T	0.64943	-0.6288	10	0.45353	T	0.12	.	18.8824	0.92362	0.0:0.0:1.0:0.0	.	404	Q9UNA0	ATS5_HUMAN	V	404	ENSP00000284987:A404V	ENSP00000284987:A404V	A	-	2	0	ADAMTS5	27248955	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.710000	0.92621	0.650000	0.86243	GCA		0.502	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1		
LTN1	26046	broad.mit.edu	37	21	30332978	30332978	+	Silent	SNP	G	G	A	rs183572524	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr21:30332978G>A	ENST00000361371.5	-	12	2293	c.2214C>T	c.(2212-2214)ggC>ggT	p.G738G	LTN1_ENST00000389194.2_Silent_p.G784G			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	738					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G738G(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CAAGGATATCGCCTTTGAGCC	0.383													G|||	2	0.000399361	0.0	0.0	5008	,	,		18353	0.002		0.0	False		,,,				2504	0.0				p.G784G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2352T	21						.						109.0	98.0	101.0					21																	30332978		2203	4300	6503	29254849	SO:0001819	synonymous_variant	26046	exon12			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.2214C>T	21.37:g.30332978G>A			29254849	NM_015565	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Silent	SNP	ENST00000361371.5	37																																																																																					0.383	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565	
HUNK	30811	broad.mit.edu	37	21	33297053	33297053	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr21:33297053C>T	ENST00000270112.2	+	2	895	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	179	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R179W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GCACCTGCACCGGGCCGGGGT	0.627																																					p.R179W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C535T	21						.						56.0	60.0	59.0					21																	33297053		2203	4300	6503	32218924	SO:0001583	missense	30811	exon2			AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.535C>T	21.37:g.33297053C>T	ENSP00000270112:p.Arg179Trp		32218924	NM_014586		Missense_Mutation	SNP	ENST00000270112.2	37	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649072	0.47362	.	.	ENSG00000142149	ENST00000270112;ENST00000430354	T;T	0.25912	1.77;1.77	4.73	2.83	0.33086	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	0.53530	0.1802	M	0.86502	2.82	0.58432	D	0.999992	D	0.89917	1.0	D	0.78314	0.991	T	0.60265	-0.7297	10	0.87932	D	0	-21.08	12.327	0.55018	0.4457:0.5543:0.0:0.0	.	179	P57058	HUNK_HUMAN	W	179;64	ENSP00000270112:R179W;ENSP00000411860:R64W	ENSP00000270112:R179W	R	+	1	2	HUNK	32218924	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	2.243000	0.43115	0.538000	0.28769	0.557000	0.71058	CGG		0.627	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586	
DOPEY2	9980	broad.mit.edu	37	21	37649322	37649322	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr21:37649322C>A	ENST00000399151.3	+	28	5721	c.5636C>A	c.(5635-5637)gCt>gAt	p.A1879D		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1879					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.A1879D(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTCACAGATGCTGCTGCAGCT	0.517																																					p.A1879D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5636A	21						.						175.0	130.0	145.0					21																	37649322		2203	4300	6503	36571192	SO:0001583	missense	9980	exon28			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.5636C>A	21.37:g.37649322C>A	ENSP00000382104:p.Ala1879Asp		36571192	NM_005128	D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.912940	0.52439	.	.	ENSG00000142197	ENST00000399151	T	0.73681	-0.77	5.37	4.48	0.54585	.	0.666605	0.15753	N	0.246333	T	0.68705	0.3030	L	0.54323	1.7	0.37271	D	0.907396	B	0.24823	0.112	B	0.29440	0.102	T	0.64179	-0.6468	10	0.12766	T	0.61	.	13.1352	0.59405	0.0:0.9224:0.0:0.0776	.	1879	Q9Y3R5	DOP2_HUMAN	D	1879	ENSP00000382104:A1879D	ENSP00000382104:A1879D	A	+	2	0	DOPEY2	36571192	0.026000	0.19158	0.981000	0.43875	0.682000	0.39822	1.282000	0.33226	2.530000	0.85305	0.555000	0.69702	GCT		0.517	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128	
HLCS	3141	broad.mit.edu	37	21	38309369	38309369	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr21:38309369C>T	ENST00000399120.1	-	5	1606	c.376G>A	c.(376-378)Gag>Aag	p.E126K	HLCS_ENST00000336648.4_Missense_Mutation_p.E126K	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	126					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)	p.E126K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GGAATGTTCTCGGCAGACGCA	0.527																																					p.E126K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G376A	21						.						103.0	92.0	95.0					21																	38309369		2203	4300	6503	37231239	SO:0001583	missense	3141	exon5				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.376G>A	21.37:g.38309369C>T	ENSP00000382071:p.Glu126Lys		37231239	NM_000411	B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	C	36	5.914299	0.97099	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.99167	-5.51;-5.51	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.99184	0.9717	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.99891	1.1134	10	0.87932	D	0	.	19.5934	0.95525	0.0:1.0:0.0:0.0	.	126;126	B2RAH1;P50747	.;BPL1_HUMAN	K	126	ENSP00000382071:E126K;ENSP00000338387:E126K	ENSP00000338387:E126K	E	-	1	0	HLCS	37231239	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	7.374000	0.79633	2.724000	0.93272	0.561000	0.74099	GAG		0.527	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2		
DYRK1A	1859	broad.mit.edu	37	21	38884680	38884680	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr21:38884680G>A	ENST00000398960.2	+	11	2213	c.2138G>A	c.(2137-2139)gGc>gAc	p.G713D	DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000339659.4_Missense_Mutation_p.G704D|DYRK1A_ENST00000455387.2_Missense_Mutation_p.G485D	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	713					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)	p.G713D(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAAGAGACTGGCATAGCTGGA	0.473																																					p.G704D	Melanoma(114;464 1602 31203 43785 45765)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2111A	21						.						105.0	91.0	96.0					21																	38884680		2203	4300	6503	37806550	SO:0001583	missense	1859	exon11			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.2138G>A	21.37:g.38884680G>A	ENSP00000381932:p.Gly713Asp		37806550	NM_130436	O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.730797	0.69074	.	.	ENSG00000157540	ENST00000339659;ENST00000398960;ENST00000455387	T;T;T	0.61742	0.08;0.15;0.72	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.67011	0.2848	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.69964	-0.5002	10	0.66056	D	0.02	.	19.9093	0.97021	0.0:0.0:1.0:0.0	.	713;704	Q13627;Q13627-2	DYR1A_HUMAN;.	D	704;713;485	ENSP00000340373:G704D;ENSP00000381932:G713D;ENSP00000407854:G485D	ENSP00000340373:G704D	G	+	2	0	DYRK1A	37806550	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.357000	0.97099	2.713000	0.92767	0.655000	0.94253	GGC		0.473	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396	
RSPH1	89765	broad.mit.edu	37	21	43906545	43906545	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr21:43906545C>T	ENST00000291536.3	-	4	468	c.301G>A	c.(301-303)Ggc>Agc	p.G101S	RSPH1_ENST00000398352.3_Missense_Mutation_p.G63S	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	101					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.G101S(1)		large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						ACGCCATGGCCGTGCCGCAGG	0.478																																					p.G101S	Esophageal Squamous(23;63 706 6286 10288 12913)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G301A	21						.						174.0	148.0	157.0					21																	43906545		2203	4300	6503	42779614	SO:0001583	missense	89765	exon4			AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"""meichroacidin"""	609314	"""testis specific A2 homolog (mouse)"""	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.301G>A	21.37:g.43906545C>T	ENSP00000291536:p.Gly101Ser		42779614	NM_080860	A8MWV0|B2RBN9|Q3MJA1	Missense_Mutation	SNP	ENST00000291536.3	37	CCDS13688.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934485	0.73442	.	.	ENSG00000160188	ENST00000291536;ENST00000398352	D;D	0.93859	-3.3;-3.3	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99457	1.0942	10	0.87932	D	0	.	19.5252	0.95201	0.0:1.0:0.0:0.0	.	101	Q8WYR4	RSPH1_HUMAN	S	101;63	ENSP00000291536:G101S;ENSP00000381395:G63S	ENSP00000291536:G101S	G	-	1	0	RSPH1	42779614	1.000000	0.71417	0.742000	0.31022	0.021000	0.10359	6.633000	0.74286	2.704000	0.92352	0.555000	0.69702	GGC		0.478	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1		
PFKL	5211	broad.mit.edu	37	21	45736382	45736382	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr21:45736382C>T	ENST00000349048.4	+	9	966	c.911C>T	c.(910-912)aCg>aTg	p.T304M	PFKL_ENST00000403390.1_Missense_Mutation_p.T351M	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	304	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)	p.T351M(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CGGGGAGGGACGCCCTCTGCC	0.657																																					p.T304M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C911T	21						.						99.0	70.0	80.0					21																	45736382		2203	4299	6502	44560810	SO:0001583	missense	5211	exon9				CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.911C>T	21.37:g.45736382C>T	ENSP00000269848:p.Thr304Met		44560810	NM_002626	Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033812	0.75504	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	T;T	0.79454	-1.27;-1.27	4.34	4.34	0.51931	Phosphofructokinase domain (2);Phosphofructokinase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88273	0.6392	M	0.85710	2.77	0.58432	D	0.999994	D;D	0.89917	0.975;1.0	P;D	0.66979	0.709;0.948	D	0.90598	0.4542	10	0.72032	D	0.01	-40.932	15.6184	0.76787	0.0:1.0:0.0:0.0	.	304;351	P17858;P17858-2	K6PL_HUMAN;.	M	304;97;351	ENSP00000269848:T304M;ENSP00000384038:T351M	ENSP00000269848:T304M	T	+	2	0	PFKL	44560810	1.000000	0.71417	0.980000	0.43619	0.453000	0.32348	4.418000	0.59828	1.961000	0.56991	0.313000	0.20887	ACG		0.657	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1		
HUNK	30811	broad.mit.edu	37	21	33296813	33296813	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr21:33296813delA	ENST00000270112.2	+	2	655	c.295delA	c.(295-297)aaafs	p.K100fs		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	100	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K100fs*18(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GAAGAGAGCCAAAAAGGACAC	0.448																																					p.K99fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.295delA	21						.						48.0	44.0	45.0					21																	33296813		2203	4300	6503	32218684	SO:0001589	frameshift_variant	30811	exon2			AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.295delA	21.37:g.33296813delA	ENSP00000270112:p.Lys100fs		32218684	NM_014586		Frame_Shift_Del	DEL	ENST00000270112.2	37	CCDS13610.1																																																																																				0.448	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586	
ABCG1	9619	broad.mit.edu	37	21	43693453	43693453	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr21:43693453delC	ENST00000361802.2	+	4	590	c.445delC	c.(445-447)cccfs	p.P149fs	ABCG1_ENST00000343687.3_Frame_Shift_Del_p.P160fs|ABCG1_ENST00000398437.1_Frame_Shift_Del_p.P295fs|ABCG1_ENST00000340588.4_Frame_Shift_Del_p.P257fs|ABCG1_ENST00000398449.3_Frame_Shift_Del_p.P149fs|ABCG1_ENST00000347800.2_Frame_Shift_Del_p.P146fs|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Frame_Shift_Del_p.P151fs	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	149	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)	p.R152fs*29(1)|p.R150fs*29(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CAACGGCCTGCCCCGGGACCT	0.642																																					p.P146fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.436delC	21						.						64.0	68.0	66.0					21																	43693453		2203	4300	6503	42566522	SO:0001589	frameshift_variant	9619	exon4			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.445delC	21.37:g.43693453delC	ENSP00000354995:p.Pro149fs		42566522	NM_207629	Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Frame_Shift_Del	DEL	ENST00000361802.2	37	CCDS13682.1																																																																																				0.642	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174	
TRPM2	7226	broad.mit.edu	37	21	45821663	45821663	+	Silent	SNP	C	C	T	rs377447563		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr21:45821663C>T	ENST00000397928.1	+	16	2866	c.2421C>T	c.(2419-2421)ttC>ttT	p.F807F	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Silent_p.F807F|TRPM2_ENST00000300481.9_Silent_p.F787F|TRPM2_ENST00000300482.5_Silent_p.F807F	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	807					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.F807F(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCTCCTACTTCGCCTTCCTCT	0.632																																					p.F807F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2421T	21						.	C		0,4406		0,0,2203	354.0	279.0	304.0		2421	-1.3	0.9	21		304	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRPM2	NM_003307.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		807/1504	45821663	1,13005	2203	4300	6503	44646091	SO:0001819	synonymous_variant	7226	exon16			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2421C>T	21.37:g.45821663C>T			44646091	NM_003307	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	CCDS13710.1																																																																																				0.632	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307	
IL17RA	23765	broad.mit.edu	37	22	17584432	17584432	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:17584432C>T	ENST00000319363.6	+	8	944	c.811C>T	c.(811-813)Cgc>Tgc	p.R271C		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	271					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)	p.R271C(1)		endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		ACTCACTCTACGCAACCTTAA	0.552																																					p.R271C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C811T	22						.						122.0	73.0	90.0					22																	17584432		2203	4300	6503	15964432	SO:0001583	missense	23765	exon8			U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.811C>T	22.37:g.17584432C>T	ENSP00000320936:p.Arg271Cys		15964432	NM_014339	O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.412481	0.42817	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.06068	3.35	5.44	-5.73	0.02398	.	1.832950	0.02230	N	0.064807	T	0.03520	0.0101	N	0.22421	0.69	0.09310	N	1	D;P	0.54964	0.969;0.881	B;B	0.39562	0.303;0.114	T	0.38045	-0.9679	10	0.54805	T	0.06	0.206	0.4629	0.00519	0.215:0.232:0.1775:0.3755	.	271;271	D3YTB4;Q96F46	.;I17RA_HUMAN	C	271	ENSP00000320936:R271C	ENSP00000320936:R271C	R	+	1	0	IL17RA	15964432	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.747000	0.04823	-0.661000	0.05345	0.555000	0.69702	CGC		0.552	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339	
TXNRD2	10587	broad.mit.edu	37	22	19867758	19867758	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:19867758A>G	ENST00000400521.1	-	14	1225	c.1219T>C	c.(1219-1221)Tgt>Cgt	p.C407R	TXNRD2_ENST00000400519.1_Missense_Mutation_p.C406R|TXNRD2_ENST00000400518.1_Missense_Mutation_p.C377R|TXNRD2_ENST00000542719.1_Missense_Mutation_p.C377R|TXNRD2_ENST00000535882.1_Missense_Mutation_p.C406R	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	407					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)	p.C407R(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					AGCCCCACACAGCCATACTCC	0.642																																					p.C407R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1219C	22						.						45.0	59.0	54.0					22																	19867758		2200	4300	6500	18247758	SO:0001583	missense	10587	exon14			AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.1219T>C	22.37:g.19867758A>G	ENSP00000383365:p.Cys407Arg		18247758	NM_006440	O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	ENST00000400521.1	37	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.137149	0.77775	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719	D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	4.82	4.82	0.62117	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (2);	0.000000	0.85682	D	0.000000	D	0.94463	0.8218	L	0.54965	1.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.994	D	0.94929	0.8080	10	0.87932	D	0	-0.7301	13.8035	0.63216	1.0:0.0:0.0:0.0	.	407;406;384	Q9NNW7;D3YTF9;D3YTF8	TRXR2_HUMAN;.;.	R	377;407;407;384;311;406;406;377	ENSP00000383362:C377R;ENSP00000383365:C407R;ENSP00000383369:C384R;ENSP00000383363:C406R;ENSP00000439314:C406R;ENSP00000439570:C377R	ENSP00000383362:C377R	C	-	1	0	TXNRD2	18247758	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	7.442000	0.80503	2.169000	0.68431	0.460000	0.39030	TGT		0.642	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440	
DGCR8	54487	broad.mit.edu	37	22	20080367	20080367	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:20080367A>G	ENST00000351989.3	+	8	2071	c.1642A>G	c.(1642-1644)Att>Gtt	p.I548V	DGCR8_ENST00000407755.1_Intron|DGCR8_ENST00000383024.2_Intron	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	548	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)	p.I548V(1)		NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CTCGGTGACCATTGATGGTGT	0.428																																					p.I548V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1642G	22						.						173.0	174.0	174.0					22																	20080367		2203	4300	6503	18460367	SO:0001583	missense	54487	exon8			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1642A>G	22.37:g.20080367A>G	ENSP00000263209:p.Ile548Val		18460367	NM_022720	B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.260593	0.80246	.	.	ENSG00000128191	ENST00000351989	T	0.73469	-0.75	5.83	5.83	0.93111	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.78298	0.4261	N	0.26042	0.785	0.80722	D	1	D	0.54772	0.968	D	0.71870	0.975	T	0.77239	-0.2661	10	0.33940	T	0.23	-12.244	15.852	0.78940	1.0:0.0:0.0:0.0	.	548	Q8WYQ5	DGCR8_HUMAN	V	548	ENSP00000263209:I548V	ENSP00000263209:I548V	I	+	1	0	DGCR8	18460367	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.212000	0.71576	0.533000	0.62120	ATT		0.428	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1		
KLHL22	84861	broad.mit.edu	37	22	20812116	20812116	+	Silent	SNP	G	G	A	rs199638024		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:20812116G>A	ENST00000328879.4	-	5	1440	c.1284C>T	c.(1282-1284)taC>taT	p.Y428Y	KLHL22_ENST00000440659.2_Silent_p.Y285Y	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	428					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)		p.Y428Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GTGGGGCCACGTATGCCCAGG	0.582													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20144	0.0		0.0	False		,,,				2504	0.0				p.Y428Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1284T	22						.	G		0,4404		0,0,2202	61.0	48.0	52.0		1284	-4.3	0.8	22		52	4,8596		0,4,4296	no	coding-synonymous	KLHL22	NM_032775.3		0,4,6498	AA,AG,GG		0.0465,0.0,0.0308		428/635	20812116	4,13000	2202	4300	6502	19142116	SO:0001819	synonymous_variant	84861	exon5				CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1284C>T	22.37:g.20812116G>A			19142116	NM_032775	A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Silent	SNP	ENST00000328879.4	37	CCDS13780.1																																																																																				0.582	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775	
PI4KA	5297	broad.mit.edu	37	22	21084262	21084262	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:21084262G>A	ENST00000572273.1	-	37	4382	c.4152C>T	c.(4150-4152)gtC>gtT	p.V1384V	PI4KA_ENST00000414196.3_Silent_p.V194V|PI4KA_ENST00000255882.6_Silent_p.V1442V			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1384					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.V1384V(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GCCGAGAGCCGACAGTTATGT	0.517																																					p.V194V	GBM(136;1332 1831 3115 23601 50806)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C582T	22						.						112.0	81.0	91.0					22																	21084262		2203	4300	6503	19414262	SO:0001819	synonymous_variant	5297	exon5			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4152C>T	22.37:g.21084262G>A			19414262	NM_002650	Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37																																																																																					0.517	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004	
SNAP29	9342	broad.mit.edu	37	22	21224765	21224765	+	Silent	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:21224765A>G	ENST00000215730.7	+	2	506	c.378A>G	c.(376-378)aaA>aaG	p.K126K		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	126					autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)	p.K126K(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			TCAAATCCAAACCAGTAGAGA	0.483																																					p.K126K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A378G	22						.						100.0	81.0	87.0					22																	21224765		2203	4300	6503	19554765	SO:0001819	synonymous_variant	9342	exon2			AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"""soluble 29 kDa NSF attachment protein"""	604202	"""synaptosomal-associated protein, 29kD"""			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.378A>G	22.37:g.21224765A>G			19554765	NM_004782		Silent	SNP	ENST00000215730.7	37	CCDS13784.1																																																																																				0.483	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	NM_004782	
AIFM3	150209	broad.mit.edu	37	22	21327654	21327654	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:21327654G>A	ENST00000399167.2	+	3	330	c.90G>A	c.(88-90)tcG>tcA	p.S30S	AIFM3_ENST00000333607.6_Silent_p.S30S|AIFM3_ENST00000399163.2_Silent_p.S30S|AIFM3_ENST00000405089.1_Silent_p.S36S|AIFM3_ENST00000440238.2_Silent_p.S30S|AIFM3_ENST00000335375.5_Missense_Mutation_p.R55Q	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	30					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.S30S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGGAGCTGTCGGCCAGTGGGA	0.687																																					p.S36S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G108A	22						.						27.0	26.0	26.0					22																	21327654		2200	4296	6496	19657654	SO:0001819	synonymous_variant	150209	exon3			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.90G>A	22.37:g.21327654G>A			19657654	NM_001146288	B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Silent	SNP	ENST00000399167.2	37	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	G	7.043	0.562896	0.13498	.	.	ENSG00000183773	ENST00000335375	T	0.56444	0.46	4.84	-9.68	0.00528	.	.	.	.	.	T	0.34861	0.0912	.	.	.	0.42849	D	0.994072	B	0.02656	0.0	B	0.01281	0.0	T	0.40059	-0.9583	8	0.87932	D	0	.	5.9756	0.19377	0.6044:0.0668:0.0753:0.2534	.	55	B7Z9S7	.	Q	55	ENSP00000335369:R55Q	ENSP00000335369:R55Q	R	+	2	0	AIFM3	19657654	0.000000	0.05858	0.007000	0.13788	0.004000	0.04260	-4.400000	0.00240	-3.809000	0.00104	-0.781000	0.03364	CGG		0.687	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704	
TOP3B	8940	broad.mit.edu	37	22	22317241	22317241	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:22317241T>G	ENST00000398793.2	-	12	1663	c.1229A>C	c.(1228-1230)gAg>gCg	p.E410A	TOP3B_ENST00000357179.5_Missense_Mutation_p.E410A|TOP3B_ENST00000413067.2_Missense_Mutation_p.E139A	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	410					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)	p.E410A(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GGTGATGTACTCATAGAGCCG	0.617																																					p.E410A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1229C	22						.						90.0	87.0	88.0					22																	22317241		2203	4300	6503	20647241	SO:0001583	missense	8940	exon12			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1229A>C	22.37:g.22317241T>G	ENSP00000381773:p.Glu410Ala		20647241	NM_003935	A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	CCDS13797.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.7|20.7	4.030382|4.030382	0.75504|0.75504	.|.	.|.	ENSG00000100038|ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000413067|ENST00000457270	T;T;T|.	0.24908|.	1.83;1.83;1.83|.	4.59|4.59	4.59|4.59	0.56863|0.56863	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 3 (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);|.	0.101029|.	0.64402|.	D|.	0.000002|.	D|D	0.85062|0.85062	0.5611|0.5611	M|M	0.93898|0.93898	3.47|3.47	0.80722|0.80722	D|D	1|1	P;P|.	0.38148|.	0.62;0.566|.	B;B|.	0.43658|.	0.426;0.419|.	D|D	0.89237|0.89237	0.3581|0.3581	10|5	0.72032|.	D|.	0.01|.	.|.	14.1395|14.1395	0.65311|0.65311	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	410;410|.	O95985;O95985-2|.	TOP3B_HUMAN;.|.	A|R	410;410;139|205	ENSP00000349705:E410A;ENSP00000381773:E410A;ENSP00000393118:E139A|.	ENSP00000349705:E410A|.	E|S	-|-	2|1	0|0	TOP3B|TOP3B	20647241|20647241	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.450000|0.450000	0.32258|0.32258	7.283000|7.283000	0.78640|0.78640	1.919000|1.919000	0.55581|0.55581	0.460000|0.460000	0.39030|0.39030	GAG|AGT		0.617	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935	
SMARCB1	6598	broad.mit.edu	37	22	24135750	24135750	+	Silent	SNP	C	C	T	rs200394488		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:24135750C>T	ENST00000263121.7	+	3	433	c.237C>T	c.(235-237)caC>caT	p.H79H	SMARCB1_ENST00000407422.3_Silent_p.H70H|SMARCB1_ENST00000407082.3_Silent_p.H79H|SMARCB1_ENST00000344921.6_Silent_p.H70H	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	79					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)|p.H79H(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TTACAGATCACGGATACACGA	0.537			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							c|||	1	0.000199681	0.0	0.0	5008	,	,		18473	0.001		0.0	False		,,,				2504	0.0				p.H79H		yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""		M	.	.	3	Unknown(2)|Substitution - coding silent(1)	soft_tissue(2)|large_intestine(1)	c.C237T	22						.	T	,	1,4405	2.1+/-5.4	0,1,2202	170.0	154.0	160.0		210,237	-5.9	0.7	22		160	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SMARCB1	NM_001007468.1,NM_003073.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	70/377,79/386	24135750	1,13005	2203	4300	6503	22465750	SO:0001819	synonymous_variant	6598	exon3			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.237C>T	22.37:g.24135750C>T			22465750	NM_003073	O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Silent	SNP	ENST00000263121.7	37	CCDS13817.1																																																																																				0.537	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073	
ASPHD2	57168	broad.mit.edu	37	22	26830029	26830029	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:26830029C>T	ENST00000215906.5	+	2	886	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	150					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.R124C(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CAAGGGCATCCGCGAGCAGGG	0.652																																					p.R150C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C448T	22						.						32.0	32.0	32.0					22																	26830029		2203	4300	6503	25160029	SO:0001583	missense	57168	exon2			AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.448C>T	22.37:g.26830029C>T	ENSP00000215906:p.Arg150Cys		25160029	NM_020437	B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455858	0.84209	.	.	ENSG00000128203	ENST00000215906	T	0.53206	0.63	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.64080	0.2566	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.66320	-0.5953	10	0.56958	D	0.05	-40.9827	16.5768	0.84704	0.0:1.0:0.0:0.0	.	150	Q6ICH7	ASPH2_HUMAN	C	150	ENSP00000215906:R150C	ENSP00000215906:R150C	R	+	1	0	ASPHD2	25160029	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.897000	0.75671	2.445000	0.82738	0.563000	0.77884	CGC		0.652	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437	
EWSR1	2130	broad.mit.edu	37	22	29695662	29695662	+	Silent	SNP	C	C	T	rs148438243		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:29695662C>T	ENST00000397938.2	+	16	2071	c.1752C>T	c.(1750-1752)ccC>ccT	p.P584P	EWSR1_ENST00000331029.7_Silent_p.P546P|EWSR1_ENST00000414183.2_Silent_p.P589P|EWSR1_ENST00000332035.6_Silent_p.P528P|EWSR1_ENST00000406548.1_Silent_p.P583P|EWSR1_ENST00000332050.6_Silent_p.P511P	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	584	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.P584P(1)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTGGTGGTCCCGGTGGAATGT	0.637			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																p.P589P			Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"""L, M"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1767T	22						.	C	,,,	0,4406		0,0,2203	102.0	84.0	90.0		1749,1584,1752,1767	-3.7	0.8	22	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EWSR1	NM_001163285.1,NM_001163286.1,NM_005243.3,NM_013986.3	,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,	583/656,528/601,584/657,589/662	29695662	2,13004	2203	4300	6503	28025662	SO:0001819	synonymous_variant	2130	exon17				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1752C>T	22.37:g.29695662C>T			28025662	NM_013986	B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Silent	SNP	ENST00000397938.2	37	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243413	0.22796	0.0	2.33E-4	ENSG00000182944	ENST00000360091	.	.	.	5.19	-3.7	0.04437	.	.	.	.	.	T	0.53465	0.1798	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50759	-0.8790	4	.	.	.	.	9.5402	0.39246	0.1192:0.5769:0.0:0.3039	.	.	.	.	W	236	.	.	R	+	1	2	EWSR1	28025662	0.000000	0.05858	0.814000	0.32528	0.976000	0.68499	-2.387000	0.01060	-0.946000	0.03677	0.313000	0.20887	CGG		0.637	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243	
SMTN	6525	broad.mit.edu	37	22	31492874	31492874	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:31492874G>A	ENST00000347557.2	+	14	2235	c.2017G>A	c.(2017-2019)Gtc>Atc	p.V673I	SMTN_ENST00000358743.1_Missense_Mutation_p.V673I|SMTN_ENST00000333137.7_Missense_Mutation_p.V673I|SMTN_ENST00000404574.1_Intron	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	673					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.V673I(1)|p.V696I(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						TGAGCGGCTCGTCCACTCCAG	0.647																																					p.V673I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2017A	22						.						46.0	51.0	49.0					22																	31492874		2203	4300	6503	29822874	SO:0001583	missense	6525	exon14			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.2017G>A	22.37:g.31492874G>A	ENSP00000328635:p.Val673Ile		29822874	NM_006932	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.427319	0.25726	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496	T;T;T	0.69435	0.06;-0.4;-0.4	4.51	2.42	0.29668	.	0.523000	0.14415	N	0.321007	T	0.47911	0.1471	N	0.20685	0.6	0.80722	D	1	B;B;B;B;B;B	0.26744	0.049;0.049;0.158;0.008;0.095;0.026	B;B;B;B;B;B	0.16722	0.004;0.004;0.016;0.003;0.01;0.009	T	0.30707	-0.9969	10	0.38643	T	0.18	-15.8949	9.7497	0.40468	0.2356:0.0:0.7644:0.0	.	729;758;696;673;673;673	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	I	673;673;673;671;696	ENSP00000351593:V673I;ENSP00000328635:V673I;ENSP00000329532:V673I	ENSP00000329393:V671I	V	+	1	0	SMTN	29822874	0.553000	0.26513	1.000000	0.80357	0.994000	0.84299	0.153000	0.16323	0.470000	0.27294	0.456000	0.33151	GTC		0.647	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270	
PISD	23761	broad.mit.edu	37	22	32017668	32017668	+	Silent	SNP	C	C	T	rs368409664		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:32017668C>T	ENST00000439502.2	-	4	748	c.525G>A	c.(523-525)ccG>ccA	p.P175P	PISD_ENST00000266095.5_Silent_p.P141P|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000397500.1_Silent_p.P141P|PISD_ENST00000336566.4_Silent_p.P175P|PISD_ENST00000382151.2_Silent_p.P141P			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	175					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)	p.P141P(1)		central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	GCCGGGCCTGCGGCTTCAGCT	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		19256	0.001		0.0	False		,,,				2504	0.0				p.P141P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G423A	22						.	C		0,4406		0,0,2203	36.0	37.0	36.0		423	-6.1	0.9	22		36	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	PISD	NM_014338.3		0,2,6500	TT,TC,CC		0.0233,0.0,0.0154		141/376	32017668	2,13002	2203	4299	6502	30347668	SO:0001819	synonymous_variant	23761	exon5				CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.525G>A	22.37:g.32017668C>T			30347668	NM_014338	B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Silent	SNP	ENST00000439502.2	37		.	.	.	.	.	.	.	.	.	.	C	7.139	0.581471	0.13686	0.0	2.33E-4	ENSG00000241878	ENST00000435900	.	.	.	5.62	-6.12	0.02124	.	.	.	.	.	T	0.50514	0.1620	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54702	-0.8254	4	.	.	.	-34.2493	9.0206	0.36198	0.1093:0.2478:0.0:0.6429	.	.	.	.	H	166	.	.	R	-	2	0	PISD	30347668	0.000000	0.05858	0.919000	0.36401	0.625000	0.37756	-2.838000	0.00739	-0.781000	0.04548	-0.244000	0.11960	CGC		0.612	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4		
LARGE	9215	broad.mit.edu	37	22	34022259	34022259	+	Missense_Mutation	SNP	C	C	T	rs138938225		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:34022259C>T	ENST00000354992.2	-	5	1031	c.460G>A	c.(460-462)Gtc>Atc	p.V154I	LARGE_ENST00000397394.2_Missense_Mutation_p.V154I|LARGE_ENST00000337431.2_Missense_Mutation_p.V154I|LARGE_ENST00000402320.1_Missense_Mutation_p.V154I|LARGE_ENST00000437602.2_Missense_Mutation_p.V154I	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	154					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.V154I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				ACCAGGGTGACGACATCCCGG	0.542													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19368	0.0		0.0	False		,,,				2504	0.0				p.V154I	Colon(70;397 1175 4573 19089 45288)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G460A	22						.	C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	129.0	100.0	110.0		460,460	5.5	1.0	22	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LARGE	NM_004737.4,NM_133642.3	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	154/757,154/757	34022259	2,13004	2203	4300	6503	32352259	SO:0001583	missense	9215	exon4			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.460G>A	22.37:g.34022259C>T	ENSP00000347088:p.Val154Ile		32352259	NM_133642	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479400	0.63849	2.27E-4	1.16E-4	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.34978	0.0916	L	0.41356	1.27	0.80722	D	1	B;P;P	0.40197	0.327;0.453;0.706	B;B;B	0.33568	0.079;0.126;0.166	T	0.09997	-1.0649	10	0.28530	T	0.3	-5.2186	19.0132	0.92882	0.0:1.0:0.0:0.0	.	154;154;154	B7Z2I9;O95461-2;O95461	.;.;LARGE_HUMAN	I	154	ENSP00000347088:V154I;ENSP00000336636:V154I;ENSP00000380549:V154I;ENSP00000385223:V154I;ENSP00000388544:V154I	ENSP00000336636:V154I	V	-	1	0	LARGE	32352259	1.000000	0.71417	0.976000	0.42696	0.993000	0.82548	6.930000	0.75858	2.574000	0.86865	0.655000	0.94253	GTC		0.542	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642	
HMGXB4	10042	broad.mit.edu	37	22	35689100	35689100	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:35689100A>G	ENST00000216106.5	+	10	1882	c.1754A>G	c.(1753-1755)cAg>cGg	p.Q585R	HMGXB4_ENST00000444518.2_Missense_Mutation_p.Q476R	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	585					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)	p.Q585R(1)		breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTCCCAAACAGGTCTTGGTG	0.488																																					p.Q585R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1754G	22						.						163.0	145.0	151.0					22																	35689100		2203	4300	6503	34019100	SO:0001583	missense	10042	exon10			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1754A>G	22.37:g.35689100A>G	ENSP00000216106:p.Gln585Arg		34019100	NM_001003681	O75672|O75673|Q9UMT5	Missense_Mutation	SNP	ENST00000216106.5	37	CCDS33641.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.299534	0.60195	.	.	ENSG00000100281	ENST00000444518;ENST00000216106	T;T	0.18174	2.23;2.23	5.83	5.83	0.93111	.	0.170856	0.52532	D	0.000080	T	0.16257	0.0391	L	0.38531	1.155	0.38739	D	0.953843	P	0.34462	0.454	B	0.30401	0.115	T	0.03840	-1.0999	10	0.66056	D	0.02	-22.8306	16.1908	0.81987	1.0:0.0:0.0:0.0	.	585	Q9UGU5	HMGX4_HUMAN	R	476;585	ENSP00000398302:Q476R;ENSP00000216106:Q585R	ENSP00000216106:Q585R	Q	+	2	0	HMGXB4	34019100	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.206000	0.77891	2.229000	0.72834	0.460000	0.39030	CAG		0.488	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487	
MYH9	4627	broad.mit.edu	37	22	36718564	36718564	+	Silent	SNP	G	G	A	rs139466141	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:36718564G>A	ENST00000216181.5	-	6	845	c.615C>T	c.(613-615)ggC>ggT	p.G205G		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	205	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.G205G(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTCCAGCTCGCCCTGCAAGG	0.667			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				G|||	3	0.000599042	0.0015	0.0014	5008	,	,		16382	0.0		0.0	False		,,,				2504	0.0				p.G205G			Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C615T	22						.	G		10,4396		0,10,2193	46.0	39.0	41.0		615	-10.2	0.4	22	dbSNP_134	41	0,8600		0,0,4300	no	coding-synonymous	MYH9	NM_002473.4		0,10,6493	AA,AG,GG		0.0,0.227,0.0769		205/1961	36718564	10,12996	2203	4300	6503	35048510	SO:0001819	synonymous_variant	4627	exon6	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.615C>T	22.37:g.36718564G>A			35048510	NM_002473	A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	CCDS13927.1																																																																																				0.667	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473	
MYH9	4627	broad.mit.edu	37	22	36737437	36737437	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:36737437G>A	ENST00000216181.5	-	3	698	c.468C>T	c.(466-468)acC>acT	p.T156T	MYH9_ENST00000401701.1_Silent_p.T156T	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	156	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.T156T(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCCTGTAGGCGGTGTCTGTGA	0.527			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																												p.T156T			Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C468T	22						.						188.0	145.0	160.0					22																	36737437		2203	4300	6503	35067383	SO:0001819	synonymous_variant	4627	exon3	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.468C>T	22.37:g.36737437G>A			35067383	NM_002473	A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	CCDS13927.1																																																																																				0.527	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473	
TRIOBP	11078	broad.mit.edu	37	22	38097466	38097466	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:38097466G>C	ENST00000406386.3	+	3	349	c.94G>C	c.(94-96)Gcc>Ccc	p.A32P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	32					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.A32P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCCTGAGGAGGCCCATGGAGC	0.567																																					p.A32P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G94C	22						.						70.0	72.0	72.0					22																	38097466		2035	4166	6201	36427412	SO:0001583	missense	11078	exon3			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.94G>C	22.37:g.38097466G>C	ENSP00000384312:p.Ala32Pro		36427412	NM_001039141	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954458	0.53293	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.23348	1.91	5.62	3.48	0.39840	.	.	.	.	.	T	0.16854	0.0405	N	0.19112	0.55	0.21740	N	0.999565	B	0.18461	0.028	B	0.13407	0.009	T	0.19844	-1.0293	9	0.62326	D	0.03	.	8.509	0.33206	0.0824:0.1543:0.7632:0.0	.	32	Q9H2D6	TARA_HUMAN	P	32	ENSP00000384312:A32P	ENSP00000340312:A32P	A	+	1	0	TRIOBP	36427412	0.982000	0.34865	0.097000	0.21041	0.320000	0.28249	2.304000	0.43655	0.694000	0.31654	0.591000	0.81541	GCC		0.567	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
MICALL1	85377	broad.mit.edu	37	22	38323751	38323751	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:38323751C>T	ENST00000215957.6	+	9	1925	c.1799C>T	c.(1798-1800)gCc>gTc	p.A600V	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	600	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.A600V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TGCAGTGGCGCCACCCCAACG	0.657																																					p.A600V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1799T	22						.						60.0	68.0	65.0					22																	38323751		2203	4300	6503	36653697	SO:0001583	missense	85377	exon9			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.1799C>T	22.37:g.38323751C>T	ENSP00000215957:p.Ala600Val		36653697	NM_033386	Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	C	8.727	0.915731	0.17907	.	.	ENSG00000100139	ENST00000215957;ENST00000402631	T;T	0.58506	0.33;1.85	5.35	4.31	0.51392	.	0.360853	0.24985	N	0.034039	T	0.54240	0.1846	L	0.57536	1.79	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.49551	-0.8928	10	0.44086	T	0.13	.	14.3449	0.66654	0.0:0.9277:0.0:0.0723	.	600	Q8N3F8	MILK1_HUMAN	V	600;27	ENSP00000215957:A600V;ENSP00000384608:A27V	ENSP00000215957:A600V	A	+	2	0	MICALL1	36653697	0.691000	0.27709	0.031000	0.17742	0.105000	0.19272	4.037000	0.57311	1.238000	0.43771	0.555000	0.69702	GCC		0.657	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386	
PLA2G6	8398	broad.mit.edu	37	22	38511538	38511538	+	Missense_Mutation	SNP	C	C	T	rs369038599		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:38511538C>T	ENST00000332509.3	-	14	2213	c.2030G>A	c.(2029-2031)cGc>cAc	p.R677H	PLA2G6_ENST00000335539.3_Missense_Mutation_p.R623H|PLA2G6_ENST00000402064.1_Missense_Mutation_p.R623H	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	677	Calmodulin-binding. {ECO:0000250}.				cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)	p.R677H(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	ACTCACCTTGCGGATCAGGTC	0.622																																					p.R623H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1868A	22						.						86.0	67.0	73.0					22																	38511538		2203	4300	6503	36841484	SO:0001583	missense	8398	exon13			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.2030G>A	22.37:g.38511538C>T	ENSP00000333142:p.Arg677His		36841484	NM_001199562	A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034648	0.75617	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.77098	-1.07;-1.07;-1.07	5.1	5.1	0.69264	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.291560	0.38720	N	0.001596	T	0.73760	0.3628	L	0.29908	0.895	0.80722	D	1	D;D	0.64830	0.994;0.988	P;P	0.55785	0.784;0.749	T	0.73471	-0.3972	10	0.44086	T	0.13	-30.9766	6.6434	0.22921	0.0:0.7763:0.0:0.2237	.	623;677	O60733-2;O60733	.;PA2G6_HUMAN	H	677;538;623;623	ENSP00000333142:R677H;ENSP00000335149:R623H;ENSP00000386100:R623H	ENSP00000333142:R677H	R	-	2	0	PLA2G6	36841484	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	1.876000	0.39588	2.379000	0.81126	0.655000	0.94253	CGC		0.622	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426	
MKL1	57591	broad.mit.edu	37	22	40814582	40814582	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:40814582G>A	ENST00000355630.3	-	12	2450	c.1860C>T	c.(1858-1860)tcC>tcT	p.S620S	MKL1_ENST00000402042.1_Silent_p.S570S|MKL1_ENST00000396617.3_Silent_p.S620S|MKL1_ENST00000407029.1_Silent_p.S620S	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	620	Pro-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.S620S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						TCACCACCACGGACGGGGGCC	0.711			T	RBM15	acute megakaryocytic leukemia																																p.S620S			Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1860T	22						.						15.0	20.0	18.0					22																	40814582		2180	4273	6453	39144528	SO:0001819	synonymous_variant	57591	exon12			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.1860C>T	22.37:g.40814582G>A			39144528	NM_020831	Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	CCDS14003.1																																																																																				0.711	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831	
SREBF2	6721	broad.mit.edu	37	22	42263037	42263037	+	Silent	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:42263037A>G	ENST00000361204.4	+	2	457	c.291A>G	c.(289-291)ttA>ttG	p.L97L		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	97	Gly/Pro/Ser-rich.				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)	p.L97L(2)		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						AGGTCACATTACCTTCCTTCT	0.612																																					p.L97L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A291G	22						.						148.0	125.0	133.0					22																	42263037		2203	4300	6503	40592983	SO:0001819	synonymous_variant	6721	exon2			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.291A>G	22.37:g.42263037A>G			40592983	NM_004599	Q05BD5|Q6GTH7|Q86V36|Q9UH04	Silent	SNP	ENST00000361204.4	37	CCDS14023.1																																																																																				0.612	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599	
TCF20	6942	broad.mit.edu	37	22	42575629	42575629	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:42575629C>T	ENST00000359486.3	-	2	5871	c.5735G>A	c.(5734-5736)tGt>tAt	p.C1912Y	TCF20_ENST00000404876.1_Missense_Mutation_p.C213Y|TCF20_ENST00000335626.4_Missense_Mutation_p.C1912Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1912					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.C1912Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ATCAATGGCACACGGGTAATG	0.488																																					p.C1912Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5735A	22						.						230.0	185.0	200.0					22																	42575629		2203	4300	6503	40905573	SO:0001583	missense	6942	exon2			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5735G>A	22.37:g.42575629C>T	ENSP00000352463:p.Cys1912Tyr		40905573	NM_005650	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007719	0.75046	.	.	ENSG00000100207	ENST00000359486;ENST00000335626;ENST00000404876	D;D;D	0.94376	-3.41;-3.41;-3.41	4.67	4.67	0.58626	Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.97895	0.9308	H	0.96576	3.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	D	0.99072	1.0834	10	0.87932	D	0	-11.8878	16.8669	0.86032	0.0:1.0:0.0:0.0	.	1912;1912	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	Y	1912;1912;213	ENSP00000352463:C1912Y;ENSP00000335561:C1912Y;ENSP00000385531:C213Y	ENSP00000335561:C1912Y	C	-	2	0	TCF20	40905573	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.793000	0.75130	2.587000	0.87381	0.655000	0.94253	TGT		0.488	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492	
A4GALT	53947	broad.mit.edu	37	22	43089594	43089594	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:43089594C>T	ENST00000401850.1	-	2	853	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	A4GALT_ENST00000465765.2_5'Flank|A4GALT_ENST00000381278.3_Missense_Mutation_p.A122T|A4GALT_ENST00000249005.2_Missense_Mutation_p.A122T			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	122					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)	p.A122T(1)		NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GGCAGAGAGGCGTTGCCACCC	0.632																																					p.A122T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G364A	22						.						80.0	89.0	86.0					22																	43089594		2203	4300	6503	41419538	SO:0001583	missense	53947	exon3				CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"""Gb3 synthase"", ""CD77 synthase"", ""globotriaosylceramide synthase"", ""lactosylceramide 4-alpha-galactosyltransferase"""	607922	"""alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"""			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.364G>A	22.37:g.43089594C>T	ENSP00000384794:p.Ala122Thr		41419538	NM_017436	B2R7C4|Q9P1X5	Missense_Mutation	SNP	ENST00000401850.1	37	CCDS14041.1	.	.	.	.	.	.	.	.	.	.	C	7.012	0.556927	0.13436	.	.	ENSG00000128274	ENST00000401850;ENST00000249005;ENST00000381278;ENST00000535654	T;T;T	0.79554	-1.28;-1.28;-1.28	5.29	2.97	0.34412	Glycosyltransferase, DXD sugar-binding motif (1);	0.556455	0.15694	N	0.249279	T	0.59729	0.2215	N	0.12961	0.28	0.09310	N	1	B	0.18863	0.031	B	0.17722	0.019	T	0.41770	-0.9490	10	0.11794	T	0.64	-23.8604	5.8347	0.18601	0.152:0.6004:0.0:0.2476	.	122	Q9NPC4	A4GAT_HUMAN	T	122	ENSP00000384794:A122T;ENSP00000249005:A122T;ENSP00000370678:A122T	ENSP00000249005:A122T	A	-	1	0	A4GALT	41419538	0.000000	0.05858	0.118000	0.21660	0.826000	0.46750	-0.114000	0.10757	1.208000	0.43306	0.561000	0.74099	GCC		0.632	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	NM_017436	
CDPF1	150383	broad.mit.edu	37	22	46644141	46644141	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:46644141T>C	ENST00000314567.3	-	2	464	c.41A>G	c.(40-42)gAg>gGg	p.E14G	CDPF1_ENST00000404583.1_Missense_Mutation_p.E14G|CDPF1_ENST00000475605.1_Intron|CDPF1_ENST00000404744.1_Missense_Mutation_p.E14G	NM_207327.4	NP_997210.3	Q6NVV7	CDPF1_HUMAN	cysteine-rich, DPF motif domain containing 1	14								p.E14G(1)									GAGTTCACACTCAAACACTCC	0.567																																					p.E14G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A41G	22						.						91.0	69.0	76.0					22																	46644141		2203	4300	6503	45022805	SO:0001583	missense	150383	exon2				CCDS33670.1	22q13.31	2012-07-18	2012-07-18	2012-07-18	ENSG00000205643	ENSG00000205643			33710	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 40"""	C22orf40			Standard	NM_207327		Approved	LOC150383	uc003bhe.3	Q6NVV7	OTTHUMG00000030672	ENST00000314567.3:c.41A>G	22.37:g.46644141T>C	ENSP00000325301:p.Glu14Gly		45022805	NM_207327	A6NCA1|A9IU12|A9IU16|Q3ZCR8	Missense_Mutation	SNP	ENST00000314567.3	37	CCDS33670.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.125667	0.37533	.	.	ENSG00000205643	ENST00000404583;ENST00000314567;ENST00000404744	T;T;T	0.46819	0.86;0.86;0.86	5.54	3.37	0.38596	Cysteine-rich domain, DPF-motif (2);	0.740071	0.13645	N	0.372718	T	0.43122	0.1233	L	0.60455	1.87	0.09310	N	1	P;B;B	0.36354	0.549;0.275;0.386	B;B;B	0.34242	0.174;0.076;0.178	T	0.15122	-1.0448	10	0.38643	T	0.18	.	10.9627	0.47395	0.0:0.0:0.2995:0.7005	.	14;14;14	Q6NVV7;F6RAJ7;F6UL18	CV040_HUMAN;.;.	G	14	ENSP00000384451:E14G;ENSP00000325301:E14G;ENSP00000385460:E14G	ENSP00000325301:E14G	E	-	2	0	C22orf40	45022805	0.226000	0.23696	0.043000	0.18650	0.435000	0.31806	1.817000	0.39002	0.363000	0.24346	-0.313000	0.08912	GAG		0.567	CDPF1-001	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075560.4	NM_207327	
PKDREJ	10343	broad.mit.edu	37	22	46654849	46654849	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:46654849C>T	ENST00000253255.5	-	1	4370	c.4371G>A	c.(4369-4371)gcG>gcA	p.A1457A		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1457					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.A1457A(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCTTTAGATCCGCTTGAGGTT	0.393																																					p.A1457A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4371A	22						.						96.0	90.0	92.0					22																	46654849		2203	4300	6503	45033513	SO:0001819	synonymous_variant	10343	exon1			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4371G>A	22.37:g.46654849C>T			45033513	NM_006071	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																				0.393	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
CELSR1	9620	broad.mit.edu	37	22	46859959	46859959	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:46859959C>T	ENST00000262738.3	-	2	3827	c.3828G>A	c.(3826-3828)ccG>ccA	p.P1276P	CELSR1_ENST00000395964.1_Silent_p.P1276P	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1276					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.P1276P(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGTCCTCCGACGGGAAGAACT	0.632																																					p.P1276P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3828A	22						.						69.0	67.0	68.0					22																	46859959		2203	4300	6503	45238623	SO:0001819	synonymous_variant	9620	exon2			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3828G>A	22.37:g.46859959C>T			45238623	NM_014246	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	8.790	0.930427	0.18131	.	.	ENSG00000075275	ENST00000454637	.	.	.	4.85	-8.77	0.00827	.	.	.	.	.	T	0.58935	0.2157	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66496	-0.5909	4	.	.	.	.	13.8518	0.63501	0.0:0.1742:0.6372:0.1886	.	.	.	.	H	651	.	.	R	-	2	0	CELSR1	45238623	0.024000	0.19004	0.398000	0.26321	0.838000	0.47535	-1.333000	0.02667	-1.266000	0.02446	-0.768000	0.03414	CGT		0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	
GGT5	2687	broad.mit.edu	37	22	24628868	24628868	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:24628868delC	ENST00000327365.4	-	4	935	c.519delG	c.(517-519)gggfs	p.G173fs	GGT5_ENST00000398292.3_Frame_Shift_Del_p.G173fs|GGT5_ENST00000263112.7_Frame_Shift_Del_p.G141fs|GGT5_ENST00000418439.2_Frame_Shift_Del_p.A98fs	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	173					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.H174fs*36(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCACCACATGCCCCCCTCGGA	0.706																																					p.G173fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.519delG	22						.						31.0	34.0	33.0					22																	24628868		2190	4289	6479	22958868	SO:0001589	frameshift_variant	2687	exon4			M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.519delG	22.37:g.24628868delC	ENSP00000330080:p.Gly173fs		22958868	NM_004121	Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Frame_Shift_Del	DEL	ENST00000327365.4	37	CCDS13825.1																																																																																				0.706	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121	
A4GALT	53947	broad.mit.edu	37	22	43089757	43089757	+	Frame_Shift_Del	DEL	G	G	-	rs200094764		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:43089757delG	ENST00000401850.1	-	2	690	c.201delC	c.(199-201)cccfs	p.P67fs	A4GALT_ENST00000465765.2_5'Flank|A4GALT_ENST00000381278.3_Frame_Shift_Del_p.P67fs|A4GALT_ENST00000249005.2_Frame_Shift_Del_p.P67fs			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	67					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)	p.T68fs*46(1)		NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						AGGGTGGGGTGGGGGGTGTCA	0.597																																					p.P67fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.201delC	22						.						13.0	14.0	14.0					22																	43089757		2194	4287	6481	41419701	SO:0001589	frameshift_variant	53947	exon3				CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"""Gb3 synthase"", ""CD77 synthase"", ""globotriaosylceramide synthase"", ""lactosylceramide 4-alpha-galactosyltransferase"""	607922	"""alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"""			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.201delC	22.37:g.43089757delG	ENSP00000384794:p.Pro67fs		41419701	NM_017436	B2R7C4|Q9P1X5	Frame_Shift_Del	DEL	ENST00000401850.1	37	CCDS14041.1																																																																																				0.597	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	NM_017436	
SELO	83642	broad.mit.edu	37	22	50649279	50649279	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr22:50649279G>T	ENST00000380903.2	+	5	1348	c.1290G>T	c.(1288-1290)caG>caT	p.Q430H	SELO_ENST00000492092.1_3'UTR|RP3-402G11.28_ENST00000608016.1_RNA	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN		430								p.Q430H(1)					all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GCCTCGTGCAGGTGGAGCTGG	0.657											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q430H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1290T	22						.						88.0	103.0	98.0					22																	50649279		2113	4216	6329	48991406	SO:0001583	missense	83642	exon5																														ENST00000380903.2:c.1290G>T	22.37:g.50649279G>T	ENSP00000370288:p.Gln430His	971	48991406	NM_031454	Q2TAL2|Q5JZ81|Q8WUI0	Missense_Mutation	SNP	ENST00000380903.2	37	CCDS43034.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440615	0.43326	.	.	ENSG00000073169	ENST00000380903	T	0.42900	0.96	5.82	-7.56	0.01322	.	0.891618	0.09976	N	0.731696	T	0.29882	0.0747	L	0.28400	0.85	0.09310	N	1	B;P	0.42409	0.016;0.779	B;P	0.48227	0.043;0.571	T	0.32666	-0.9898	10	0.48119	T	0.1	.	5.0054	0.14286	0.2114:0.4714:0.2211:0.0962	.	430;273	Q9BVL4;Q6ICA4	SELO_HUMAN;.	H	430	ENSP00000370288:Q430H	ENSP00000370288:Q430H	Q	+	3	2	RP3-402G11.5	48991406	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.011000	0.12721	-0.704000	0.05042	0.561000	0.74099	CAG		0.657	SELO-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000075003.2		
PDCL3	79031	broad.mit.edu	37	2	101192826	101192826	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:101192826G>T	ENST00000264254.6	+	6	966	c.588G>T	c.(586-588)tgG>tgT	p.W196C	snoU13_ENST00000458824.1_RNA	NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	196	Thioredoxin fold. {ECO:0000250}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|protein folding (GO:0006457)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|viral process (GO:0016032)	cytoplasm (GO:0005737)	protein binding involved in protein folding (GO:0044183)	p.W196C(1)		endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						AGTTGGAATGGAAACTGTCTG	0.458																																					p.W196C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G588T	2						.						90.0	82.0	85.0					2																	101192826		2203	4300	6503	100559258	SO:0001583	missense	79031	exon6			AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539			28860	protein-coding gene	gene with protein product		611678					Standard	NM_024065		Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	ENST00000264254.6:c.588G>T	2.37:g.101192826G>T	ENSP00000264254:p.Trp196Cys		100559258	NM_024065	B2RA00|Q53S68	Missense_Mutation	SNP	ENST00000264254.6	37	CCDS33261.1	.	.	.	.	.	.	.	.	.	.	.	18.46	3.628287	0.67015	.	.	ENSG00000115539	ENST00000264254	T	0.14022	2.54	4.99	4.99	0.66335	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.52155	-0.8613	10	0.38643	T	0.18	-16.876	18.6473	0.91415	0.0:0.0:1.0:0.0	.	196	Q9H2J4	PDCL3_HUMAN	C	196	ENSP00000264254:W196C	ENSP00000264254:W196C	W	+	3	0	PDCL3	100559258	1.000000	0.71417	0.999000	0.59377	0.601000	0.36947	9.027000	0.93706	2.471000	0.83476	0.591000	0.81541	TGG		0.458	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329734.1	NM_024065	
NPAS2	4862	broad.mit.edu	37	2	101606759	101606759	+	Silent	SNP	C	C	T	rs371612685		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:101606759C>T	ENST00000335681.5	+	18	2154	c.1869C>T	c.(1867-1869)agC>agT	p.S623S	NPAS2_ENST00000542504.1_Silent_p.S688S	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	623					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.S623S(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGCAGAGCAGCGGCCGCTCTG	0.572																																					p.S623S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1869T	2						.						73.0	73.0	73.0					2																	101606759		2203	4300	6503	100973191	SO:0001819	synonymous_variant	4862	exon18			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1869C>T	2.37:g.101606759C>T			100973191	NM_002518	Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	C	0.064	-1.217622	0.01542	.	.	ENSG00000170485	ENST00000433408	.	.	.	4.66	-0.392	0.12442	.	.	.	.	.	T	0.35451	0.0932	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34004	-0.9846	4	.	.	.	.	10.5737	0.45214	0.0:0.643:0.0:0.357	.	.	.	.	W	122	.	.	R	+	1	2	NPAS2	100973191	0.000000	0.05858	0.007000	0.13788	0.030000	0.12068	-0.148000	0.10219	0.001000	0.14605	-0.391000	0.06502	CGG		0.572	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3		
IL1RL1	9173	broad.mit.edu	37	2	102957259	102957259	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:102957259T>C	ENST00000233954.1	+	5	852	c.581T>C	c.(580-582)gTg>gCg	p.V194A	IL1RL1_ENST00000404917.2_Missense_Mutation_p.V77A|IL1RL1_ENST00000393393.3_Missense_Mutation_p.V194A|IL1RL1_ENST00000409584.1_Missense_Mutation_p.V194A|IL1RL1_ENST00000311734.2_Missense_Mutation_p.V194A	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	194	Ig-like C2-type 2.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)	p.V194A(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AATTATAGTGTGACGGCGACC	0.438																																					p.V194A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T581C	2						.						104.0	99.0	101.0					2																	102957259		2203	4300	6503	102323691	SO:0001583	missense	9173	exon5			D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.581T>C	2.37:g.102957259T>C	ENSP00000233954:p.Val194Ala		102323691	NM_003856	A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.075271	0.55646	.	.	ENSG00000115602	ENST00000233954;ENST00000393393;ENST00000404917;ENST00000311734;ENST00000409584	T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7	5.4	5.4	0.78164	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;0.995	T	0.13388	-1.0511	10	0.46703	T	0.11	.	12.9382	0.58327	0.0:0.0:0.0:1.0	.	77;194;194	B4E0I3;Q01638-2;Q01638	.;.;ILRL1_HUMAN	A	194;194;77;194;194	ENSP00000233954:V194A;ENSP00000377052:V194A;ENSP00000384822:V77A;ENSP00000310371:V194A;ENSP00000386618:V194A	ENSP00000233954:V194A	V	+	2	0	IL1RL1	102323691	1.000000	0.71417	0.973000	0.42090	0.042000	0.13812	3.917000	0.56424	2.033000	0.60031	0.460000	0.39030	GTG		0.438	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232	
MRPS9	64965	broad.mit.edu	37	2	105705463	105705463	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:105705463A>G	ENST00000258455.3	+	6	621	c.511A>G	c.(511-513)Aat>Gat	p.N171D		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	171					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.N171D(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AATGTTACTCAATTTAGAAAA	0.294																																					p.N171D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A511G	2						.						93.0	99.0	97.0					2																	105705463		2203	4298	6501	105071895	SO:0001583	missense	64965	exon6				CCDS2065.1	2q12.1	2012-09-13			ENSG00000135972	ENSG00000135972		"""Mitochondrial ribosomal proteins / small subunits"""	14501	protein-coding gene	gene with protein product	"""28S ribosomal protein S9, mitochondrial"""	611975				11279123	Standard	NM_182640		Approved	RPMS9, MRP-S9, S9mt	uc002tcn.4	P82933	OTTHUMG00000130807	ENST00000258455.3:c.511A>G	2.37:g.105705463A>G	ENSP00000258455:p.Asn171Asp		105071895	NM_182640	Q6PG40	Missense_Mutation	SNP	ENST00000258455.3	37	CCDS2065.1	.	.	.	.	.	.	.	.	.	.	A	0.347	-0.947036	0.02304	.	.	ENSG00000135972	ENST00000258455	D	0.92099	-2.97	6.16	0.977	0.19733	.	0.913812	0.09595	N	0.781019	D	0.83198	0.5202	L	0.28115	0.83	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.69018	-0.5256	10	0.35671	T	0.21	-30.0641	2.2095	0.03945	0.3059:0.3831:0.2042:0.1069	.	171	P82933	RT09_HUMAN	D	171	ENSP00000258455:N171D	ENSP00000258455:N171D	N	+	1	0	MRPS9	105071895	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	0.013000	0.13310	0.391000	0.25143	0.528000	0.53228	AAT		0.294	MRPS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253352.1	NM_182640	
SNTG2	54221	broad.mit.edu	37	2	1079206	1079206	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:1079206G>A	ENST00000308624.5	+	2	204	c.75G>A	c.(73-75)acG>acA	p.T25T	SNTG2_ENST00000407292.1_Silent_p.T25T	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	25					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.T25T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCCTACAGACGAAAACCACTA	0.478																																					p.T25T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G75A	2						.						114.0	114.0	114.0					2																	1079206		2021	4182	6203	1069206	SO:0001819	synonymous_variant	54221	exon2			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.75G>A	2.37:g.1079206G>A			1069206	NM_018968	Q05AH5	Silent	SNP	ENST00000308624.5	37	CCDS46220.1																																																																																				0.478	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968	
UXS1	80146	broad.mit.edu	37	2	106729176	106729176	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:106729176G>A	ENST00000409501.3	-	10	847	c.790C>T	c.(790-792)Cca>Tca	p.P264S	UXS1_ENST00000283148.7_Missense_Mutation_p.P269S|UXS1_ENST00000428048.2_Missense_Mutation_p.P108S|UXS1_ENST00000540130.1_Missense_Mutation_p.P207S|UXS1_ENST00000409032.1_Missense_Mutation_p.P96S			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	264					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)	p.P264S(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TGCATGCGTGGCCCAAAGGTG	0.607																																					p.P264S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C790T	2						.						74.0	76.0	75.0					2																	106729176		2110	4232	6342	106095608	SO:0001583	missense	80146	exon10			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.790C>T	2.37:g.106729176G>A	ENSP00000387019:p.Pro264Ser		106095608	NM_025076	Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385689	0.82792	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000409032;ENST00000428048;ENST00000441952;ENST00000416298;ENST00000444193	D;D;D;D;D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7	5.25	5.25	0.73442	NAD-dependent epimerase/dehydratase (1);	0.061073	0.64402	D	0.000002	D	0.98551	0.9516	H	0.96398	3.815	0.80722	D	1	D;D;P	0.89917	1.0;0.964;0.886	D;P;P	0.76575	0.988;0.471;0.606	D	0.99577	1.0972	10	0.66056	D	0.02	.	18.4398	0.90662	0.0:0.0:1.0:0.0	.	108;269;264	B4E3U7;Q8NBZ7-2;Q8NBZ7	.;.;UXS1_HUMAN	S	269;207;264;96;108;108;96;96	ENSP00000283148:P269S;ENSP00000438265:P207S;ENSP00000387019:P264S;ENSP00000387096:P96S;ENSP00000394334:P108S;ENSP00000416656:P108S;ENSP00000403612:P96S;ENSP00000404468:P96S	ENSP00000283148:P269S	P	-	1	0	UXS1	106095608	1.000000	0.71417	0.969000	0.41365	0.946000	0.59487	6.485000	0.73625	2.452000	0.82932	0.561000	0.74099	CCA		0.607	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3	
FBLN7	129804	broad.mit.edu	37	2	112944906	112944906	+	Silent	SNP	C	C	T	rs201355169	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:112944906C>T	ENST00000331203.2	+	8	1414	c.1143C>T	c.(1141-1143)cgC>cgT	p.R381R	FBLN7_ENST00000409903.1_Intron|FBLN7_ENST00000409667.3_Silent_p.R247R|FBLN7_ENST00000409450.3_Silent_p.R335R	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	381					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.R381R(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGAACAGCCGCGGCCACTTTG	0.642													C|||	4	0.000798722	0.0	0.0	5008	,	,		18563	0.004		0.0	False		,,,				2504	0.0				p.R381R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1143T	2						.	C	,	1,4405	2.1+/-5.4	0,1,2202	77.0	83.0	81.0		1005,1143	-10.8	0.1	2		81	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	FBLN7	NM_001128165.1,NM_153214.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	335/394,381/440	112944906	1,13005	2203	4300	6503	112661377	SO:0001819	synonymous_variant	129804	exon8				CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.1143C>T	2.37:g.112944906C>T			112661377	NM_153214	A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Silent	SNP	ENST00000331203.2	37	CCDS2095.1																																																																																				0.642	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214	
ZC3H6	376940	broad.mit.edu	37	2	113089876	113089876	+	Silent	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:113089876A>G	ENST00000409871.1	+	12	3782	c.3381A>G	c.(3379-3381)ccA>ccG	p.P1127P	ZC3H6_ENST00000343936.4_Silent_p.P1127P|AC115115.2_ENST00000607612.1_RNA	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1127							metal ion binding (GO:0046872)	p.P1127P(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TTCAGGTCCCAGCAGTGCACA	0.577																																					p.P1127P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3381G	2						.						39.0	43.0	42.0					2																	113089876		2012	4167	6179	112806347	SO:0001819	synonymous_variant	376940	exon12			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.3381A>G	2.37:g.113089876A>G			112806347	NM_198581	A9JR71|Q6ZW96	Silent	SNP	ENST00000409871.1	37	CCDS46393.1																																																																																				0.577	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581	
POLR1B	84172	broad.mit.edu	37	2	113330330	113330330	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:113330330G>A	ENST00000263331.5	+	13	2846	c.2266G>A	c.(2266-2268)Gcc>Acc	p.A756T	POLR1B_ENST00000417433.2_Missense_Mutation_p.A700T|POLR1B_ENST00000541869.1_Missense_Mutation_p.A794T|POLR1B_ENST00000409894.3_Missense_Mutation_p.A573T|POLR1B_ENST00000537335.1_Missense_Mutation_p.A545T	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	756					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.A756T(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TATGGAAGATGCCATGGTAAG	0.358																																					p.A700T	Ovarian(16;256 576 9537 23969 41147)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2098A	2						.						138.0	130.0	133.0					2																	113330330		2203	4300	6503	113046801	SO:0001583	missense	84172	exon12			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.2266G>A	2.37:g.113330330G>A	ENSP00000263331:p.Ala756Thr		113046801	NM_001137604	B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378066	0.95945	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433;ENST00000458012;ENST00000536096	D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	5.35	5.35	0.76521	DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.000000	0.85682	D	0.000000	D	0.95921	0.8672	H	0.98849	4.35	0.80722	D	1	D;P;D;D	0.89917	1.0;0.868;1.0;1.0	D;P;D;D	0.97110	1.0;0.603;0.998;1.0	D	0.97820	1.0256	10	0.87932	D	0	-19.7712	17.8411	0.88715	0.0:0.0:1.0:0.0	.	794;573;700;756	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	T	756;794;573;545;700;141;115	ENSP00000263331:A756T;ENSP00000444136:A794T;ENSP00000387143:A573T;ENSP00000437914:A545T;ENSP00000405358:A700T;ENSP00000394408:A141T	ENSP00000263331:A756T	A	+	1	0	POLR1B	113046801	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.384000	0.97219	2.485000	0.83878	0.563000	0.77884	GCC		0.358	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014	
POLR1B	84172	broad.mit.edu	37	2	113332840	113332840	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:113332840G>A	ENST00000263331.5	+	15	3522	c.2942G>A	c.(2941-2943)aGt>aAt	p.S981N	POLR1B_ENST00000417433.2_Missense_Mutation_p.S925N|POLR1B_ENST00000541869.1_Missense_Mutation_p.S1019N|POLR1B_ENST00000409894.3_Missense_Mutation_p.S798N|POLR1B_ENST00000537335.1_Missense_Mutation_p.S770N	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	981					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.S981N(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AGGTTATATAGTGGCATCAGT	0.443																																					p.S925N	Ovarian(16;256 576 9537 23969 41147)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2774A	2						.						88.0	93.0	91.0					2																	113332840		2203	4300	6503	113049311	SO:0001583	missense	84172	exon14			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.2942G>A	2.37:g.113332840G>A	ENSP00000263331:p.Ser981Asn		113049311	NM_001137604	B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742772	0.69418	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433;ENST00000536096	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.59	5.59	0.84812	DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.076090	0.85682	D	0.000000	D	0.83289	0.5222	L	0.41906	1.305	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.996;0.991;1.0	D;D;D;D	0.75484	0.977;0.986;0.919;0.986	T	0.79562	-0.1752	10	0.24483	T	0.36	-22.662	18.3837	0.90459	0.0:0.0:1.0:0.0	.	1019;798;925;981	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	N	981;1019;798;770;925;340	ENSP00000263331:S981N;ENSP00000444136:S1019N;ENSP00000387143:S798N;ENSP00000437914:S770N;ENSP00000405358:S925N	ENSP00000263331:S981N	S	+	2	0	POLR1B	113049311	1.000000	0.71417	0.988000	0.46212	0.628000	0.37860	7.248000	0.78268	2.622000	0.88805	0.563000	0.77884	AGT		0.443	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014	
TRIB2	28951	broad.mit.edu	37	2	12858525	12858525	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:12858525G>A	ENST00000405331.3	+	1	162	c.92G>A	c.(91-93)aGg>aAg	p.R31K	RP11-333O1.1_ENST00000569860.1_lincRNA|TRIB2_ENST00000381465.2_Intron|TRIB2_ENST00000155926.4_Missense_Mutation_p.R31K					tribbles pseudokinase 2									p.R31K(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCGTCTATAAGGTCCGCGGAG	0.542											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R31K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G92A	2						.						77.0	85.0	82.0					2																	12858525		2203	4300	6503	12775976	SO:0001583	missense	28951	exon1			AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.92G>A	2.37:g.12858525G>A	ENSP00000384260:p.Arg31Lys	683	12775976	NM_021643		Missense_Mutation	SNP	ENST00000405331.3	37		.	.	.	.	.	.	.	.	.	.	G	22.8	4.332369	0.81801	.	.	ENSG00000071575	ENST00000155926;ENST00000405331	T;T	0.42131	0.98;3.29	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	L	0.36672	1.1	0.58432	D	0.999996	B	0.10296	0.003	B	0.04013	0.001	T	0.17167	-1.0378	10	0.06757	T	0.87	-15.5467	17.6591	0.88187	0.0:0.0:1.0:0.0	.	31	Q92519	TRIB2_HUMAN	K	31	ENSP00000155926:R31K;ENSP00000384260:R31K	ENSP00000155926:R31K	R	+	2	0	TRIB2	12775976	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.230000	0.95299	2.408000	0.81797	0.655000	0.94253	AGG		0.542	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000323585.1	NM_021643	
GLI2	2736	broad.mit.edu	37	2	121685003	121685003	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:121685003G>A	ENST00000452319.1	+	3	275	c.215G>A	c.(214-216)aGg>aAg	p.R72K	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R72K					GLI family zinc finger 2									p.R72K(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CAGGAAGGAAGGTACCATTAC	0.587																																					p.R72K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G215A	2						.						275.0	219.0	238.0					2																	121685003		2203	4300	6503	121401473	SO:0001583	missense	2736	exon2				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.215G>A	2.37:g.121685003G>A	ENSP00000390436:p.Arg72Lys		121401473	NM_005270		Missense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	34	5.388400	0.95988	.	.	ENSG00000074047	ENST00000418323;ENST00000452319;ENST00000361492;ENST00000440937;ENST00000360874	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000002	D	0.84428	0.5470	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.999;0.997;0.994;1.0	P;D;D;D	0.83275	0.881;0.978;0.97;0.996	D	0.86453	0.1774	10	0.87932	D	0	.	18.5372	0.91014	0.0:0.0:1.0:0.0	.	72;72;72;72	B4DT63;P10070;Q0VGA0;F5H4D9	.;GLI2_HUMAN;.;.	K	72;72;72;72;64	ENSP00000398992:R72K;ENSP00000390436:R72K;ENSP00000354586:R72K;ENSP00000441454:R64K	ENSP00000441454:R64K	R	+	2	0	GLI2	121401473	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.630000	0.83225	2.382000	0.81193	0.467000	0.42956	AGG		0.587	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270	
UGGT1	56886	broad.mit.edu	37	2	128930222	128930222	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:128930222A>T	ENST00000259253.6	+	29	3227	c.3180A>T	c.(3178-3180)aaA>aaT	p.K1060N	UGGT1_ENST00000375990.3_Missense_Mutation_p.K1036N	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1060					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.K1060N(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAATCGCAAAATTTTTGGATA	0.378																																					p.K1060N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3180T	2						.						127.0	122.0	124.0					2																	128930222		2203	4300	6503	128646692	SO:0001583	missense	56886	exon29			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.3180A>T	2.37:g.128930222A>T	ENSP00000259253:p.Lys1060Asn		128646692	NM_020120	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.115372	0.77323	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.30981	1.51;1.51	5.81	-3.81	0.04294	.	0.097175	0.64402	D	0.000001	T	0.32941	0.0846	M	0.77103	2.36	0.58432	D	0.999998	B	0.25667	0.131	B	0.29440	0.102	T	0.19877	-1.0292	9	.	.	.	.	16.0222	0.80506	0.3663:0.0:0.6337:0.0	.	1060	Q9NYU2	UGGG1_HUMAN	N	1036;1060	ENSP00000365158:K1036N;ENSP00000259253:K1060N	.	K	+	3	2	UGGT1	128646692	0.998000	0.40836	0.935000	0.37517	0.992000	0.81027	0.413000	0.21148	-0.968000	0.03578	-0.326000	0.08463	AAA		0.378	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120	
POTEE	445582	broad.mit.edu	37	2	131985920	131985920	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:131985920G>A	ENST00000356920.5	+	5	1115	c.1021G>A	c.(1021-1023)Gcc>Acc	p.A341T	POTEE_ENST00000358087.5_Missense_Mutation_p.A351T|PLEKHB2_ENST00000303908.3_Intron|RNU6-127P_ENST00000390897.1_RNA|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	341					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.A351T(1)									TGGACAGACGGCCAGAGAGTA	0.363																																					p.A341T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1021A	2						.						3.0	4.0	4.0					2																	131985920		1233	2835	4068	131702390	SO:0001583	missense	445582	exon5			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.1021G>A	2.37:g.131985920G>A	ENSP00000439189:p.Ala341Thr		131702390	NM_001083538	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	13.91	2.378892	0.42207	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.60171	0.21;0.21	0.887	0.887	0.19200	Ankyrin repeat-containing domain (3);	0.861189	0.09339	U	0.815722	T	0.74884	0.3775	M	0.88310	2.945	0.09310	N	1	D	0.62365	0.991	D	0.70716	0.97	T	0.58008	-0.7712	10	0.59425	D	0.04	.	5.1522	0.15015	0.0:0.0:1.0:0.0	.	341	Q6S8J3	POTEE_HUMAN	T	341;351	ENSP00000439189:A341T;ENSP00000443049:A351T	ENSP00000439189:A341T	A	+	1	0	AC131180.1	131702390	0.782000	0.28689	0.025000	0.17156	0.276000	0.26787	1.683000	0.37638	0.782000	0.33613	0.162000	0.16502	GCC		0.363	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538	
ACMSD	130013	broad.mit.edu	37	2	135621025	135621025	+	Missense_Mutation	SNP	G	G	A	rs372245923		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:135621025G>A	ENST00000356140.5	+	5	446	c.310G>A	c.(310-312)Gtt>Att	p.V104I	ACMSD_ENST00000392928.1_Missense_Mutation_p.V46I|ACMSD_ENST00000283054.4_Missense_Mutation_p.V46I|AC016725.4_ENST00000392929.2_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	104					cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)	p.V104I(1)		endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TGCCAGCACCGTTGTGAGCTA	0.562																																					p.V104I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G310A	2						.	G	ILE/VAL	0,4406		0,0,2203	89.0	83.0	85.0		310	0.8	0.0	2		85	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACMSD	NM_138326.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	104/337	135621025	1,13005	2203	4300	6503	135337495	SO:0001583	missense	130013	exon5			AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.310G>A	2.37:g.135621025G>A	ENSP00000348459:p.Val104Ile		135337495	NM_138326	Q3B7X3|Q53SR5|Q96KY2	Missense_Mutation	SNP	ENST00000356140.5	37	CCDS2173.2	.	.	.	.	.	.	.	.	.	.	G	9.228	1.035025	0.19590	0.0	1.16E-4	ENSG00000153086	ENST00000356140;ENST00000283054;ENST00000392928	.	.	.	5.63	0.75	0.18387	.	0.168229	0.52532	N	0.000076	T	0.51261	0.1664	M	0.71296	2.17	0.33450	D	0.583497	B;B	0.13594	0.008;0.007	B;B	0.23852	0.029;0.049	T	0.53500	-0.8430	9	0.13108	T	0.6	-2.7168	10.7637	0.46279	0.2925:0.0:0.7075:0.0	.	46;104	Q53SR5;Q8TDX5	.;ACMSD_HUMAN	I	104;46;46	.	ENSP00000283054:V46I	V	+	1	0	ACMSD	135337495	1.000000	0.71417	0.000000	0.03702	0.018000	0.09664	4.179000	0.58290	-0.142000	0.11354	0.561000	0.74099	GTT		0.562	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254627.1		
ZEB2	9839	broad.mit.edu	37	2	145156918	145156918	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:145156918C>T	ENST00000558170.2	-	8	3020	c.1836G>A	c.(1834-1836)gcG>gcA	p.A612A	ZEB2_ENST00000539609.3_Silent_p.A588A|ZEB2_ENST00000303660.4_Silent_p.A612A|ZEB2_ENST00000409487.3_Silent_p.A612A	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	612					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.A612A(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCTGCAGGACCGCCTTGATCT	0.433																																					p.A588A	Melanoma(33;1235 1264 5755 16332)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1764A	2						.						106.0	107.0	107.0					2																	145156918		2203	4300	6503	144873388	SO:0001819	synonymous_variant	9839	exon7			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1836G>A	2.37:g.145156918C>T			144873388	NM_001171653	A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	CCDS2186.1																																																																																				0.433	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795	
NMI	9111	broad.mit.edu	37	2	152132055	152132055	+	Missense_Mutation	SNP	G	G	A	rs200999974		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:152132055G>A	ENST00000243346.5	-	6	1047	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	193					inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription cofactor activity (GO:0003712)	p.R193C(1)		endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		TAGTCCACGCGGTCCACCTCT	0.478																																					p.R193C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C577T	2						.	G	CYS/ARG	0,4406		0,0,2203	101.0	96.0	98.0		577	-10.7	0.0	2		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	NMI	NM_004688.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	193/308	152132055	1,13005	2203	4300	6503	151840301	SO:0001583	missense	9111	exon6			U32849	CCDS2192.1	2q23	2008-05-23			ENSG00000123609	ENSG00000123609			7854	protein-coding gene	gene with protein product		603525				8668343, 9989503	Standard	NM_004688		Approved		uc002txi.2	Q13287	OTTHUMG00000131867	ENST00000243346.5:c.577C>T	2.37:g.152132055G>A	ENSP00000243346:p.Arg193Cys		151840301	NM_004688	B5BU69|Q53TI8|Q9BVE5	Missense_Mutation	SNP	ENST00000243346.5	37	CCDS2192.1	.	.	.	.	.	.	.	.	.	.	G	8.641	0.895991	0.17686	0.0	1.16E-4	ENSG00000123609	ENST00000243346	T	0.06371	3.31	5.33	-10.7	0.00240	Nucleotide-binding, alpha-beta plait (1);	1.422030	0.03380	N	0.200229	T	0.02083	0.0065	N	0.01482	-0.84	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.42464	-0.9450	10	0.34782	T	0.22	5.1464	8.0816	0.30748	0.1881:0.0:0.226:0.586	.	193	Q13287	NMI_HUMAN	C	193	ENSP00000243346:R193C	ENSP00000243346:R193C	R	-	1	0	NMI	151840301	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.929000	0.03976	-2.922000	0.00304	-2.193000	0.00311	CGC		0.478	NMI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254817.2	NM_004688	
PRPF40A	55660	broad.mit.edu	37	2	153529129	153529129	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:153529129G>A	ENST00000410080.1	-	13	1755	c.1214C>T	c.(1213-1215)gCa>gTa	p.A405V		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	432	FF 1.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A301V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						ACTTAACTTTGCCAAAGCACT	0.294																																					p.A405V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1214T	2						.						28.0	26.0	26.0					2																	153529129		1793	4061	5854	153237375	SO:0001583	missense	55660	exon13			AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.1214C>T	2.37:g.153529129G>A	ENSP00000386458:p.Ala405Val		153237375	NM_017892	O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	ENST00000410080.1	37	CCDS46430.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204365	0.95033	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000359961;ENST00000545856	T;T	0.29917	1.55;1.55	5.44	5.44	0.79542	FF domain (4);	0.047461	0.85682	D	0.000000	T	0.42337	0.1198	N	0.22421	0.69	0.80722	D	1	P;D	0.63046	0.951;0.992	P;D	0.63033	0.708;0.91	T	0.34502	-0.9826	10	0.59425	D	0.04	-19.9574	19.6345	0.95724	0.0:0.0:1.0:0.0	.	432;405	O75400;E9PFS0	PR40A_HUMAN;.	V	405;414;301;352;432	ENSP00000386458:A405V;ENSP00000444656:A432V	ENSP00000348770:A414V	A	-	2	0	PRPF40A	153237375	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.714000	0.92807	0.655000	0.94253	GCA		0.294	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2	XM_371575	
KCNJ3	3760	broad.mit.edu	37	2	155566260	155566260	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:155566260T>G	ENST00000295101.2	+	2	1325	c.848T>G	c.(847-849)cTa>cGa	p.L283R	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_Intron	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	283					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.L283R(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TTTTATGACCTATCCCAGCGA	0.443																																					p.L283R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T848G	2						.						115.0	104.0	108.0					2																	155566260		2203	4300	6503	155274506	SO:0001583	missense	3760	exon2			U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.848T>G	2.37:g.155566260T>G	ENSP00000295101:p.Leu283Arg		155274506	NM_002239	B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.876844	0.72180	.	.	ENSG00000162989	ENST00000295101	D	0.95137	-3.62	5.57	4.39	0.52855	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.063305	0.64402	D	0.000005	D	0.97133	0.9063	M	0.86502	2.82	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.97099	0.9796	10	0.87932	D	0	.	11.4336	0.50056	0.1352:0.0:0.0:0.8648	.	283	P48549	IRK3_HUMAN	R	283	ENSP00000295101:L283R	ENSP00000295101:L283R	L	+	2	0	KCNJ3	155274506	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.993000	0.88291	1.017000	0.39495	0.528000	0.53228	CTA		0.443	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239	
PLA2R1	22925	broad.mit.edu	37	2	160889514	160889514	+	Missense_Mutation	SNP	G	G	A	rs190273929	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:160889514G>A	ENST00000283243.7	-	4	1003	c.797C>T	c.(796-798)aCg>aTg	p.T266M	PLA2R1_ENST00000392771.1_Missense_Mutation_p.T266M	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	266	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.T266M(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ACTTAACAGCGTACCTCCTTG	0.403													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		18877	0.0		0.0	False		,,,				2504	0.0				p.T266M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C797T	2						.	G	MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	182.0	171.0	175.0		797,797,797	2.8	0.0	2		175	0,8600		0,0,4300	yes	missense,missense,missense	PLA2R1	NM_001007267.2,NM_001195641.1,NM_007366.4	81,81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	266/1325,266/1462,266/1464	160889514	1,13005	2203	4300	6503	160597760	SO:0001583	missense	22925	exon4			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.797C>T	2.37:g.160889514G>A	ENSP00000283243:p.Thr266Met		160597760	NM_007366	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	CCDS33309.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	12.97	2.096715	0.36952	2.27E-4	0.0	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.19394	2.15;2.15	5.91	2.75	0.32379	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.220631	0.46442	D	0.000281	T	0.20007	0.0481	L	0.33624	1.015	0.09310	N	0.999999	P;B;P	0.42908	0.502;0.157;0.793	B;B;B	0.43916	0.404;0.01;0.436	T	0.06427	-1.0827	10	0.59425	D	0.04	.	12.9005	0.58123	0.0:0.0:0.3464:0.6536	.	266;266;266	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	M	266	ENSP00000283243:T266M;ENSP00000376524:T266M	ENSP00000283243:T266M	T	-	2	0	PLA2R1	160597760	0.944000	0.32072	0.015000	0.15790	0.125000	0.20455	3.160000	0.50739	0.775000	0.33450	0.650000	0.86243	ACG		0.403	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		
PXDN	7837	broad.mit.edu	37	2	1653244	1653244	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:1653244C>T	ENST00000252804.4	-	17	2358	c.2308G>A	c.(2308-2310)Gtg>Atg	p.V770M		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	770					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.V770M(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTCTCGTACACGGATTTCAGC	0.637																																					p.V770M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2308A	2						.						99.0	112.0	108.0					2																	1653244		2028	4194	6222	1632251	SO:0001583	missense	7837	exon17			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2308G>A	2.37:g.1653244C>T	ENSP00000252804:p.Val770Met		1632251	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114294	0.77210	.	.	ENSG00000130508	ENST00000252804	T	0.69306	-0.39	5.63	5.63	0.86233	.	0.065909	0.64402	D	0.000011	T	0.80105	0.4562	M	0.65677	2.01	0.58432	D	0.999999	D	0.69078	0.997	D	0.63033	0.91	T	0.79743	-0.1675	10	0.51188	T	0.08	-47.2202	19.7328	0.96190	0.0:1.0:0.0:0.0	.	770	Q92626	PXDN_HUMAN	M	770	ENSP00000252804:V770M	ENSP00000252804:V770M	V	-	1	0	PXDN	1632251	1.000000	0.71417	0.994000	0.49952	0.668000	0.39293	7.698000	0.84413	2.661000	0.90470	0.558000	0.71614	GTG		0.637	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455	
PLA2R1	22925	broad.mit.edu	37	2	160901596	160901596	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:160901596A>T	ENST00000283243.7	-	2	388	c.182T>A	c.(181-183)cTg>cAg	p.L61Q	PLA2R1_ENST00000392771.1_Missense_Mutation_p.L61Q	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	61	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.L61Q(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GCAGTTCTCCAGGGTCAGAAC	0.428																																					p.L61Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T182A	2						.						65.0	61.0	62.0					2																	160901596		2203	4300	6503	160609842	SO:0001583	missense	22925	exon2			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.182T>A	2.37:g.160901596A>T	ENSP00000283243:p.Leu61Gln		160609842	NM_007366	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.512175	0.85389	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.51071	0.72;0.72	6.17	6.17	0.99709	Ricin B-related lectin (1);Ricin B lectin (2);	0.000000	0.64402	D	0.000002	T	0.70762	0.3261	M	0.79475	2.455	0.58432	D	0.999999	P;D;D	0.89917	0.805;1.0;1.0	P;D;D	0.91635	0.658;0.999;0.998	T	0.73633	-0.3921	10	0.66056	D	0.02	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	61;61;61	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	Q	61	ENSP00000283243:L61Q;ENSP00000376524:L61Q	ENSP00000283243:L61Q	L	-	2	0	PLA2R1	160609842	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	8.242000	0.89818	2.371000	0.80710	0.533000	0.62120	CTG		0.428	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		
SCN9A	6335	broad.mit.edu	37	2	167055968	167055968	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:167055968T>G	ENST00000409435.1	-	26	5180	c.5181A>C	c.(5179-5181)gaA>gaC	p.E1727D	SCN9A_ENST00000303354.6_Missense_Mutation_p.E1728D|SCN9A_ENST00000375387.4_Missense_Mutation_p.E1728D|SCN9A_ENST00000409672.1_Missense_Mutation_p.E1716D|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1727					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.E1716D(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACAGTCTCCTTCAACTGAAC	0.428																																					p.E1716D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5148C	2						.						245.0	262.0	256.0					2																	167055968		2201	4299	6500	166764214	SO:0001583	missense	6335	exon27			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5181A>C	2.37:g.167055968T>G	ENSP00000386330:p.Glu1727Asp		166764214	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	T	14.44	2.536265	0.45176	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96168	-3.91;-3.93;-3.93;-3.93	5.86	3.48	0.39840	.	0.299225	0.29100	N	0.013142	D	0.90960	0.7158	N	0.16708	0.43	0.36952	D	0.892923	B	0.20368	0.044	B	0.33454	0.164	D	0.87205	0.2243	10	0.87932	D	0	.	10.0873	0.42425	0.0:0.1355:0.0:0.8645	.	1716	E7EUN6	.	D	1716;1728;1728;1727	ENSP00000386306:E1716D;ENSP00000364536:E1728D;ENSP00000304748:E1728D;ENSP00000386330:E1727D	ENSP00000304748:E1728D	E	-	3	2	SCN9A	166764214	0.962000	0.33011	0.997000	0.53966	0.998000	0.95712	0.273000	0.18662	0.479000	0.27511	0.533000	0.62120	GAA		0.428	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
TTC30A	92104	broad.mit.edu	37	2	178482803	178482803	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:178482803C>A	ENST00000355689.5	-	1	891	c.627G>T	c.(625-627)aaG>aaT	p.K209N	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	209					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.K209N(1)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CAGCGATATGCTTCAGTGCTG	0.552																																					p.K209N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G627T	2						.						69.0	68.0	68.0					2																	178482803		2203	4300	6503	178191049	SO:0001583	missense	92104	exon1			AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.627G>T	2.37:g.178482803C>A	ENSP00000347915:p.Lys209Asn		178191049	NM_152275	A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744580	0.30865	.	.	ENSG00000197557	ENST00000355689	T	0.79554	-1.28	5.78	1.47	0.22746	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.86389	0.5921	M	0.75447	2.3	0.80722	D	1	D	0.60575	0.988	D	0.65140	0.932	D	0.85020	0.0911	10	0.46703	T	0.11	.	11.6204	0.51115	0.0:0.7129:0.0:0.2871	.	209	Q86WT1	TT30A_HUMAN	N	209	ENSP00000347915:K209N	ENSP00000347915:K209N	K	-	3	2	TTC30A	178191049	0.517000	0.26226	0.989000	0.46669	0.475000	0.33008	-0.172000	0.09868	0.387000	0.25024	0.549000	0.68633	AAG		0.552	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275	
TTN	7273	broad.mit.edu	37	2	179428362	179428362	+	Silent	SNP	G	G	A	rs199629314	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:179428362G>A	ENST00000591111.1	-	276	77798	c.77574C>T	c.(77572-77574)acC>acT	p.T25858T	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.T27499T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.T18559T|TTN_ENST00000342992.6_Silent_p.T24931T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.T18434T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.T18626T			Q8WZ42	TITIN_HUMAN	titin	25858	Fibronectin type-III 88. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T24929T(1)|p.T18626T(1)|p.T18434T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCAATTTCGGTACCTCCGT	0.478													A|||	34	0.00678914	0.0008	0.0	5008	,	,		21975	0.0		0.0	False		,,,				2504	0.0337				p.P18434L												TTN,skin,NS,Substitution - Missense,+1 	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C55301T	2						.						129.0	127.0	127.0					2																	179428362		1976	4160	6136	179136608	SO:0001819	synonymous_variant	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.77574C>T	2.37:g.179428362G>A			179136608	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179434153	179434153	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:179434153T>C	ENST00000591111.1	-	276	72007	c.71783A>G	c.(71782-71784)gAc>gGc	p.D23928G	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D25569G|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D16629G|TTN_ENST00000342992.6_Missense_Mutation_p.D23001G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D16504G|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D16696G			Q8WZ42	TITIN_HUMAN	titin	23928	Ig-like 120.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D22999G(1)|p.D16504G(1)|p.D16696G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGACATTGTCAAGAACAAG	0.428																																					p.T16504A												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A49510G	2						.						95.0	86.0	89.0					2																	179434153		1906	4126	6032	179142399	SO:0001583	missense	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71783A>G	2.37:g.179434153T>C	ENSP00000465570:p.Asp23928Gly		179142399	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	11.69	1.712870	0.30413	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.71	4.54	0.55810	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60983	0.2311	L	0.35644	1.08	0.58432	D	0.999997	P;P;P;P	0.35493	0.505;0.505;0.505;0.505	B;B;B;B	0.39738	0.308;0.308;0.308;0.308	T	0.63079	-0.6717	9	0.87932	D	0	.	13.1483	0.59474	0.0:0.0:0.1332:0.8668	.	16504;16629;16696;23928	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	23001;16504;16696;16629;16502	ENSP00000343764:D23001G;ENSP00000434586:D16504G;ENSP00000340554:D16696G;ENSP00000352154:D16629G	ENSP00000340554:D16696G	D	-	2	0	TTN	179142399	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	7.991000	0.88244	0.954000	0.37851	0.533000	0.62120	GAC		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179475827	179475827	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:179475827G>A	ENST00000591111.1	-	220	46330	c.46106C>T	c.(46105-46107)gCa>gTa	p.A15369V	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A17010V|TTN_ENST00000359218.5_Missense_Mutation_p.A8070V|TTN_ENST00000342992.6_Missense_Mutation_p.A14442V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A7945V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A8137V			Q8WZ42	TITIN_HUMAN	titin	15369	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)	p.A7945V(1)|p.A14442V(1)|p.A8137V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAAGGTGTGCAGAGATGTG	0.433																																					p.A7945V												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C23834T	2						.						183.0	174.0	177.0					2																	179475827		1912	4134	6046	179184072	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.46106C>T	2.37:g.179475827G>A	ENSP00000465570:p.Ala15369Val		179184072	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	8.972	0.973242	0.18736	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.65	4.76	0.60689	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36690	0.0976	L	0.33753	1.03	0.27555	N	0.950372	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.12156	0.004;0.004;0.004;0.007	T	0.29792	-1.0000	9	0.87932	D	0	.	15.517	0.75833	0.0695:0.0:0.9305:0.0	.	7945;8070;8137;15369	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	14442;7945;8137;8070;7945	ENSP00000343764:A14442V;ENSP00000434586:A7945V;ENSP00000340554:A8137V;ENSP00000352154:A8070V	ENSP00000340554:A8137V	A	-	2	0	TTN	179184072	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	3.069000	0.50026	2.824000	0.97209	0.655000	0.94253	GCA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179634453	179634453	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:179634453G>A	ENST00000591111.1	-	37	9079	c.8855C>T	c.(8854-8856)aCa>aTa	p.T2952I	TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.T2952I|TTN_ENST00000589042.1_Missense_Mutation_p.T2952I|TTN_ENST00000359218.5_Missense_Mutation_p.T2906I|TTN_ENST00000342992.6_Missense_Mutation_p.T2952I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T2906I|TTN_ENST00000342175.6_Missense_Mutation_p.T2906I			Q8WZ42	TITIN_HUMAN	titin	13282	Ig-like 16.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T2906I(3)|p.T2952I(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGACAAATGTGTATTCTGC	0.373																																					p.T2952I												.	.	5	Substitution - Missense(5)	large_intestine(5)	c.C8855T	2						.						121.0	120.0	120.0					2																	179634453		2203	4300	6503	179342698	SO:0001583	missense	7273	exon37			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.8855C>T	2.37:g.179634453G>A	ENSP00000465570:p.Thr2952Ile		179342698	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	15.30	2.793080	0.50102	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47	5.93	5.93	0.95920	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86053	0.5841	M	0.81112	2.525	0.44834	D	0.997848	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.86585	0.1856	9	0.87932	D	0	.	20.3363	0.98740	0.0:0.0:1.0:0.0	.	2906;2906;2906;2952;2952	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	I	2952;2906;2906;2906;2906;2952	ENSP00000343764:T2952I;ENSP00000434586:T2906I;ENSP00000340554:T2906I;ENSP00000352154:T2906I;ENSP00000354117:T2952I	ENSP00000340554:T2906I	T	-	2	0	TTN	179342698	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	7.912000	0.87465	2.814000	0.96858	0.563000	0.77884	ACA		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ZNF804A	91752	broad.mit.edu	37	2	185801410	185801410	+	Silent	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:185801410T>C	ENST00000302277.6	+	4	1881	c.1287T>C	c.(1285-1287)ctT>ctC	p.L429L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	429							metal ion binding (GO:0046872)	p.L429L(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TACCTGTCCTTAACAAACACA	0.373																																					p.L429L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1287C	2						.						122.0	131.0	128.0					2																	185801410		2203	4300	6503	185509655	SO:0001819	synonymous_variant	91752	exon4			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1287T>C	2.37:g.185801410T>C			185509655	NM_194250	A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	CCDS2291.1																																																																																				0.373	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
DNAH7	56171	broad.mit.edu	37	2	196671483	196671483	+	Missense_Mutation	SNP	C	C	T	rs6708527	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:196671483C>T	ENST00000312428.6	-	54	10257	c.10157G>A	c.(10156-10158)cGt>cAt	p.R3386H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3386			R -> H (in dbSNP:rs6708527).		cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.R3386H(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCTCAAGCAACGAATAATAAG	0.398																																					p.R3386H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10157A	2						.	C	HIS/ARG	1,3771		0,1,1885	138.0	125.0	129.0		10157	5.5	1.0	2	dbSNP_116	129	0,8238		0,0,4119	no	missense	DNAH7	NM_018897.2	29	0,1,6004	TT,TC,CC		0.0,0.0265,0.0083	probably-damaging	3386/4025	196671483	1,12009	1886	4119	6005	196379728	SO:0001583	missense	56171	exon54			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10157G>A	2.37:g.196671483C>T	ENSP00000311273:p.Arg3386His		196379728	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991077	0.93106	2.65E-4	0.0	ENSG00000118997	ENST00000312428	T	0.11821	2.74	5.53	5.53	0.82687	Dynein heavy chain (1);	0.055069	0.64402	D	0.000002	T	0.60907	0.2305	H	0.99590	4.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78687	-0.2107	10	0.72032	D	0.01	.	19.2483	0.93912	0.0:1.0:0.0:0.0	rs6708527;rs6708527	3386	Q8WXX0	DYH7_HUMAN	H	3386	ENSP00000311273:R3386H	ENSP00000311273:R3386H	R	-	2	0	DNAH7	196379728	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.314000	0.78988	2.882000	0.98803	0.655000	0.94253	CGT		0.398	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
CASP8	841	broad.mit.edu	37	2	202139642	202139642	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:202139642C>T	ENST00000432109.2	+	7	815	c.626C>T	c.(625-627)tCg>tTg	p.S209L	CASP8_ENST00000323492.7_Missense_Mutation_p.S194L|CASP8_ENST00000358485.4_Missense_Mutation_p.S268L|CASP8_ENST00000392259.2_Intron|CASP8_ENST00000392258.3_Intron|CASP8_ENST00000264275.5_Missense_Mutation_p.S226L|CASP8_ENST00000392266.3_Intron|CASP8_ENST00000264274.9_Intron	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	209					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.S226L(1)|p.S268L(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ATGACAATCTCGGACTCTCCA	0.393										HNSCC(4;0.00038)																											p.S194L	Melanoma(82;831 1348 20716 36952 40159)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C581T	2						.						140.0	126.0	131.0					2																	202139642		2203	4300	6503	201847887	SO:0001583	missense	841	exon5			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.626C>T	2.37:g.202139642C>T	ENSP00000412523:p.Ser209Leu		201847887	NM_033356	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	9.353	1.066101	0.20067	.	.	ENSG00000064012	ENST00000392263;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000358485;ENST00000392261;ENST00000323492	T;T;T;T;T;T	0.47528	4.38;4.34;4.38;0.84;4.31;4.38	3.7	-0.283	0.12874	DEATH-like (1);	3.462800	0.00604	N	0.000394	T	0.30230	0.0758	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B	0.19706	0.038;0.005;0.003;0.003;0.002;0.016	B;B;B;B;B;B	0.09377	0.004;0.002;0.003;0.001;0.001;0.002	T	0.06570	-1.0819	10	0.22706	T	0.39	.	3.6263	0.08114	0.0:0.445:0.2039:0.3511	.	209;194;268;209;194;226	Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;.;CASP8_HUMAN;.;.	L	194;209;226;91;268;194;194	ENSP00000376091:S194L;ENSP00000412523:S209L;ENSP00000264275:S226L;ENSP00000391709:S91L;ENSP00000351273:S268L;ENSP00000325722:S194L	ENSP00000264275:S226L	S	+	2	0	CASP8	201847887	0.000000	0.05858	0.000000	0.03702	0.724000	0.41520	-0.395000	0.07287	-0.071000	0.12886	0.205000	0.17691	TCG		0.393	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228	
ALS2	57679	broad.mit.edu	37	2	202569302	202569302	+	Silent	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:202569302T>C	ENST00000264276.6	-	32	5085	c.4713A>G	c.(4711-4713)aaA>aaG	p.K1571K	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1571	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.K1571K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TGACCTTAAGTTTGTCTGATG	0.398																																					p.K1571K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4713G	2						.						123.0	115.0	118.0					2																	202569302		1886	4109	5995	202277547	SO:0001819	synonymous_variant	57679	exon32			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.4713A>G	2.37:g.202569302T>C			202277547	NM_020919	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	ENST00000264276.6	37	CCDS42800.1																																																																																				0.398	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919	
NBEAL1	65065	broad.mit.edu	37	2	204016238	204016238	+	Missense_Mutation	SNP	G	G	A	rs372102920		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:204016238G>A	ENST00000449802.1	+	34	5759	c.5426G>A	c.(5425-5427)cGc>cAc	p.R1809H		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1809								p.R1809H(1)|p.R519H(1)		NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AATTATTCCCGCATGAGACTT	0.343																																					p.R1809H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5426A	2						.	G	HIS/ARG	0,3652		0,0,1826	87.0	80.0	82.0		5426	4.9	1.0	2		82	1,8155		0,1,4077	no	missense	NBEAL1	NM_001114132.1	29	0,1,5903	AA,AG,GG		0.0123,0.0,0.0085	probably-damaging	1809/2695	204016238	1,11807	1826	4078	5904	203724483	SO:0001583	missense	65065	exon34			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5426G>A	2.37:g.204016238G>A	ENSP00000399903:p.Arg1809His		203724483	NM_001114132	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461251	0.84317	0.0	1.23E-4	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.60797	0.16	4.86	4.86	0.63082	.	0.063928	0.64402	D	0.000007	T	0.72748	0.3499	M	0.86740	2.835	0.58432	D	0.999997	D;D	0.67145	0.996;0.996	P;P	0.55455	0.776;0.776	T	0.78790	-0.2066	10	0.87932	D	0	.	12.1816	0.54216	0.0846:0.0:0.9154:0.0	.	1809;1798	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	H	1809	ENSP00000399903:R1809H	ENSP00000344985:R1809H	R	+	2	0	NBEAL1	203724483	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.453000	0.73488	2.233000	0.73108	0.460000	0.39030	CGC		0.343	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4		
PARD3B	117583	broad.mit.edu	37	2	205983712	205983712	+	Missense_Mutation	SNP	G	G	A	rs368878317		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:205983712G>A	ENST00000406610.2	+	7	955	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	PARD3B_ENST00000358768.2_Missense_Mutation_p.E250K|PARD3B_ENST00000349953.3_Missense_Mutation_p.E250K|PARD3B_ENST00000351153.1_Missense_Mutation_p.E250K|PARD3B_ENST00000462231.1_Missense_Mutation_p.E250K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	250	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.E251K(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACTATTTCACGAAAATGAATG	0.348																																					p.E250K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G748A	2						.						94.0	92.0	92.0					2																	205983712		1849	4098	5947	205691957	SO:0001583	missense	117583	exon7			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.748G>A	2.37:g.205983712G>A	ENSP00000385848:p.Glu250Lys		205691957	NM_057177	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37		.	.	.	.	.	.	.	.	.	.	G	34	5.325596	0.95708	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.65	5.65	0.86999	PDZ/DHR/GLGF (3);	0.048253	0.85682	D	0.000000	D	0.92163	0.7515	M	0.78637	2.42	0.54753	D	0.999985	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999	D;D;D;D;D	0.83275	0.996;0.994;0.913;0.974;0.98	D	0.89158	0.3528	10	0.20519	T	0.43	.	19.7244	0.96157	0.0:0.0:1.0:0.0	.	250;250;250;250;250	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	K	250	ENSP00000385848:E250K;ENSP00000351618:E250K;ENSP00000317261:E250K;ENSP00000340280:E250K	ENSP00000340280:E250K	E	+	1	0	PARD3B	205691957	1.000000	0.71417	0.956000	0.39512	0.988000	0.76386	9.334000	0.96470	2.659000	0.90383	0.655000	0.94253	GAA		0.348	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177	
PARD3B	117583	broad.mit.edu	37	2	206036969	206036969	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:206036969C>T	ENST00000406610.2	+	12	1862	c.1655C>T	c.(1654-1656)gCa>gTa	p.A552V	PARD3B_ENST00000358768.2_Missense_Mutation_p.A490V|PARD3B_ENST00000349953.3_Missense_Mutation_p.A552V|PARD3B_ENST00000351153.1_Missense_Mutation_p.A552V|PARD3B_ENST00000462231.1_Missense_Mutation_p.A552V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	552	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.A491V(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CAGCTGATTGCAGTTAATGGG	0.453																																					p.A552V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1655T	2						.						134.0	125.0	128.0					2																	206036969		1920	4139	6059	205745214	SO:0001583	missense	117583	exon12			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1655C>T	2.37:g.206036969C>T	ENSP00000385848:p.Ala552Val		205745214	NM_057177	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37		.	.	.	.	.	.	.	.	.	.	C	33	5.236530	0.95240	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.30182	1.54;2.1;1.54;1.54	5.65	5.65	0.86999	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.56292	0.1975	M	0.64260	1.97	0.58432	D	0.999997	D;D;D;D;D	0.89917	0.999;1.0;0.988;1.0;1.0	D;D;D;D;D	0.97110	0.988;0.999;0.943;0.999;1.0	T	0.56226	-0.8014	10	0.72032	D	0.01	.	19.733	0.96192	0.0:1.0:0.0:0.0	.	552;552;552;490;552	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	V	552;490;552;552	ENSP00000385848:A552V;ENSP00000351618:A490V;ENSP00000317261:A552V;ENSP00000340280:A552V	ENSP00000340280:A552V	A	+	2	0	PARD3B	205745214	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.717000	0.68446	2.665000	0.90641	0.585000	0.79938	GCA		0.453	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177	
APOB	338	broad.mit.edu	37	2	21230334	21230334	+	Missense_Mutation	SNP	G	G	A	rs72653102	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:21230334G>A	ENST00000233242.1	-	26	9533	c.9406C>T	c.(9406-9408)Cgt>Tgt	p.R3136C		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3136					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.R3136C(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAAGGTAGACGCATTTCAGGA	0.378													G|||	2	0.000399361	0.0	0.0	5008	,	,		19260	0.001		0.001	False		,,,				2504	0.0				p.R3136C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C9406T	2						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	111.0	115.0	114.0		9406	0.4	0.1	2	dbSNP_130	114	2,8598	2.2+/-6.3	0,2,4298	yes	missense	APOB	NM_000384.2	180	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	possibly-damaging	3136/4564	21230334	3,13003	2203	4300	6503	21083839	SO:0001583	missense	338	exon26			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9406C>T	2.37:g.21230334G>A	ENSP00000233242:p.Arg3136Cys		21083839	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	2.552	-0.303744	0.05495	2.27E-4	2.33E-4	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.37058	1.22	5.68	0.363	0.16118	.	0.768179	0.12102	N	0.499372	T	0.18215	0.0437	N	0.08118	0	0.09310	N	0.999999	P	0.49961	0.93	B	0.42522	0.39	T	0.11470	-1.0586	10	0.56958	D	0.05	.	6.5686	0.22525	0.0:0.2131:0.3469:0.4399	.	3136	P04114	APOB_HUMAN	C	3136	ENSP00000233242:R3136C	ENSP00000233242:R3136C	R	-	1	0	APOB	21083839	0.000000	0.05858	0.119000	0.21687	0.139000	0.21198	0.171000	0.16685	0.102000	0.17638	-0.262000	0.10625	CGT		0.378	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	broad.mit.edu	37	2	21234677	21234677	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:21234677C>A	ENST00000233242.1	-	26	5190	c.5063G>T	c.(5062-5064)gGc>gTc	p.G1688V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1688					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.G1688V(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGAAGCGGCCATTTGTTGT	0.498																																					p.G1688V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5063T	2						.						95.0	87.0	90.0					2																	21234677		2203	4300	6503	21088182	SO:0001583	missense	338	exon26			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5063G>T	2.37:g.21234677C>A	ENSP00000233242:p.Gly1688Val		21088182	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913643	0.52439	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01165	5.24	5.97	5.05	0.67936	.	0.000000	0.64402	D	0.000012	T	0.05960	0.0155	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.16541	-1.0399	10	0.72032	D	0.01	.	18.8481	0.92215	0.0:0.8751:0.1249:0.0	.	1688	P04114	APOB_HUMAN	V	1688	ENSP00000233242:G1688V	ENSP00000233242:G1688V	G	-	2	0	APOB	21088182	0.945000	0.32115	0.997000	0.53966	0.600000	0.36913	2.117000	0.41939	2.834000	0.97654	0.650000	0.86243	GGC		0.498	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
CRYGC	1420	broad.mit.edu	37	2	208994242	208994242	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:208994242G>A	ENST00000282141.3	-	2	212	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	59	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)	p.R59W(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TCCCCTCGCCGCAGCAAGTAT	0.567																																					p.R59W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C175T	2						.						72.0	77.0	75.0					2																	208994242		2203	4300	6503	208702487	SO:0001583	missense	1420	exon2				CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.175C>T	2.37:g.208994242G>A	ENSP00000282141:p.Arg59Trp		208702487	NM_020989	Q53R50	Missense_Mutation	SNP	ENST00000282141.3	37	CCDS2379.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265845	0.40095	.	.	ENSG00000163254	ENST00000282141	T	0.76060	-0.99	4.98	1.84	0.25277	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.131007	0.45361	D	0.000362	D	0.86657	0.5985	M	0.89968	3.075	0.36679	D	0.878928	D	0.89917	1.0	D	0.76575	0.988	D	0.89307	0.3630	10	0.54805	T	0.06	.	12.167	0.54135	0.0:0.0:0.4613:0.5387	.	59	P07315	CRGC_HUMAN	W	59	ENSP00000282141:R59W	ENSP00000282141:R59W	R	-	1	2	CRYGC	208702487	0.252000	0.23972	1.000000	0.80357	0.378000	0.30076	0.628000	0.24522	0.547000	0.28938	0.462000	0.41574	CGG		0.567	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256474.1	NM_020989	
FN1	2335	broad.mit.edu	37	2	216226754	216226754	+	Nonsense_Mutation	SNP	C	C	A	rs370833185		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:216226754C>A	ENST00000359671.1	-	44	7292	c.7027G>T	c.(7027-7029)Gaa>Taa	p.E2343*	FN1_ENST00000346544.3_Nonsense_Mutation_p.E2168*|FN1_ENST00000443816.1_Nonsense_Mutation_p.E2222*|FN1_ENST00000446046.1_Nonsense_Mutation_p.E2287*|FN1_ENST00000432072.2_Nonsense_Mutation_p.E2224*|FN1_ENST00000354785.4_Nonsense_Mutation_p.E2434*|FN1_ENST00000345488.5_Nonsense_Mutation_p.E2141*|FN1_ENST00000323926.6_Nonsense_Mutation_p.E2403*|FN1_ENST00000356005.4_Nonsense_Mutation_p.E2253*|FN1_ENST00000336916.4_Nonsense_Mutation_p.E2312*|FN1_ENST00000357867.4_Nonsense_Mutation_p.E2133*|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000421182.1_Nonsense_Mutation_p.E2197*			P02751	FINC_HUMAN	fibronectin 1	2343					acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.E2312*(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GTAGTGCCTTCGGGACTGGGT	0.507																																					p.E2253X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G6757T	2						.						132.0	116.0	121.0					2																	216226754		2203	4300	6503	215934999	SO:0001587	stop_gained	2335	exon43				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.7027G>T	2.37:g.216226754C>A	ENSP00000352696:p.Glu2343*		215934999	NM_212476	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Nonsense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	C	48	14.774058	0.99809	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	.	.	.	5.76	5.76	0.90799	.	0.333932	0.28724	N	0.014352	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.9664	0.97271	0.0:1.0:0.0:0.0	.	.	.	.	X	2197;2403;2312;2133;2434;2344;2343;2168;2141;2287;2222;2224;2253;1060	.	ENSP00000265313:E2344X	E	-	1	0	FN1	215934999	0.998000	0.40836	0.134000	0.22075	0.567000	0.35839	3.794000	0.55492	2.724000	0.93272	0.650000	0.86243	GAA		0.507	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
FN1	2335	broad.mit.edu	37	2	216272025	216272025	+	Silent	SNP	C	C	T	rs145300210		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:216272025C>T	ENST00000359671.1	-	18	2803	c.2538G>A	c.(2536-2538)tcG>tcA	p.S846S	FN1_ENST00000443816.1_Silent_p.S846S|FN1_ENST00000446046.1_Silent_p.S846S|FN1_ENST00000432072.2_Silent_p.S846S|FN1_ENST00000354785.4_Silent_p.S846S|FN1_ENST00000345488.5_Silent_p.S846S|FN1_ENST00000323926.6_Silent_p.S846S|FN1_ENST00000356005.4_Silent_p.S846S|FN1_ENST00000336916.4_Silent_p.S846S|FN1_ENST00000346544.3_Silent_p.S846S|FN1_ENST00000357867.4_Silent_p.S846S|FN1_ENST00000357009.2_Silent_p.S846S|FN1_ENST00000421182.1_Silent_p.S846S			P02751	FINC_HUMAN	fibronectin 1	846	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.S846S(3)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CTACTGATGGCGAATAGACTA	0.433													T|||	1	0.000199681	0.0008	0.0	5008	,	,		19418	0.0		0.0	False		,,,				2504	0.0				p.S846S												.	.	3	Substitution - coding silent(3)	endometrium(2)|large_intestine(1)	c.G2538A	2						.	T	,,,,	1,4405	826.1+/-416.6	0,1,2202	183.0	173.0	176.0		2538,2538,2538,2538,2538	-5.4	0.8	2	dbSNP_134	176	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FN1	NM_002026.2,NM_212474.1,NM_212476.1,NM_212478.1,NM_212482.1	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	846/2356,846/2177,846/2297,846/2331,846/2478	216272025	1,13005	2203	4300	6503	215980270	SO:0001819	synonymous_variant	2335	exon18				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2538G>A	2.37:g.216272025C>T			215980270	NM_212476	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37																																																																																					0.433	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
CCDC108	255101	broad.mit.edu	37	2	219892615	219892615	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:219892615G>A	ENST00000341552.5	-	13	2051	c.1968C>T	c.(1966-1968)gtC>gtT	p.V656V	CCDC108_ENST00000410037.1_Silent_p.V591V|CCDC108_ENST00000441968.1_Silent_p.V656V|CCDC108_ENST00000409865.3_Silent_p.V645V|CCDC108_ENST00000453220.1_Silent_p.V656V	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	656						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.V656V(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTCTACCTCGACAGGCTCTA	0.617																																					p.V656V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1968T	2						.						43.0	45.0	44.0					2																	219892615		2203	4300	6503	219600859	SO:0001819	synonymous_variant	255101	exon13			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1968C>T	2.37:g.219892615G>A			219600859	NM_194302	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	CCDS2430.2																																																																																				0.617	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302	
CCDC108	255101	broad.mit.edu	37	2	219894773	219894773	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:219894773T>C	ENST00000341552.5	-	10	1402	c.1319A>G	c.(1318-1320)tAc>tGc	p.Y440C	CCDC108_ENST00000410037.1_Missense_Mutation_p.Y375C|CCDC108_ENST00000441968.1_Missense_Mutation_p.Y440C|CCDC108_ENST00000409865.3_Missense_Mutation_p.Y429C|CCDC108_ENST00000453220.1_Missense_Mutation_p.Y440C	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	440						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.Y440C(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATGGAGCAGTAGTCCACAGT	0.577											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Y440C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1319G	2						.						83.0	74.0	77.0					2																	219894773		2203	4300	6503	219603017	SO:0001583	missense	255101	exon10			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1319A>G	2.37:g.219894773T>C	ENSP00000340776:p.Tyr440Cys	2262	219603017	NM_194302	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	T	18.64	3.667110	0.67814	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.08984	3.27;3.27;3.27;3.03;3.04	5.18	5.18	0.71444	.	0.000000	0.42294	D	0.000730	T	0.31199	0.0789	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.04386	-1.0955	10	0.56958	D	0.05	-31.9717	15.1942	0.73071	0.0:0.0:0.0:1.0	.	429;440	E9PG25;Q6ZU64	.;CC108_HUMAN	C	440;440;440;429;375;374	ENSP00000340776:Y440C;ENSP00000413377:Y440C;ENSP00000409117:Y440C;ENSP00000386945:Y429C;ENSP00000386258:Y375C	ENSP00000340776:Y440C	Y	-	2	0	CCDC108	219603017	1.000000	0.71417	0.950000	0.38849	0.697000	0.40408	5.403000	0.66338	2.172000	0.68678	0.533000	0.62120	TAC		0.577	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302	
DOCK10	55619	broad.mit.edu	37	2	225781465	225781465	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:225781465A>G	ENST00000258390.7	-	3	347	c.280T>C	c.(280-282)Tca>Cca	p.S94P	DOCK10_ENST00000409592.3_Missense_Mutation_p.S88P|DOCK10_ENST00000474102.1_5'UTR	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	94					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S94P(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GGTACTGTTGAGTACAACGTG	0.438																																					p.S94P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T280C	2						.						80.0	78.0	79.0					2																	225781465		1943	4158	6101	225489709	SO:0001583	missense	55619	exon3			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.280T>C	2.37:g.225781465A>G	ENSP00000258390:p.Ser94Pro		225489709	NM_014689	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.466107	0.43839	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.46819	0.86;0.86	5.45	5.45	0.79879	.	0.137576	0.50627	D	0.000115	T	0.36026	0.0952	L	0.33792	1.035	0.31638	N	0.648142	B;B;B	0.18310	0.004;0.027;0.004	B;B;B	0.15484	0.009;0.013;0.009	T	0.36335	-0.9752	10	0.20046	T	0.44	.	13.099	0.59210	1.0:0.0:0.0:0.0	.	94;94;88	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	P	88;94	ENSP00000386694:S88P;ENSP00000258390:S94P	ENSP00000258390:S94P	S	-	1	0	DOCK10	225489709	1.000000	0.71417	0.983000	0.44433	0.965000	0.64279	2.822000	0.48073	2.092000	0.63282	0.440000	0.28878	TCA		0.438	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		
MFF	56947	broad.mit.edu	37	2	228211954	228211954	+	Silent	SNP	G	G	A	rs555978161		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:228211954G>A	ENST00000353339.3	+	8	1047	c.606G>A	c.(604-606)tcG>tcA	p.S202S	MFF_ENST00000337110.7_Intron|MFF_ENST00000392059.1_Silent_p.S202S|MFF_ENST00000354503.6_Intron|MFF_ENST00000409616.1_Intron|MFF_ENST00000304593.9_Silent_p.S151S|MFF_ENST00000409565.1_Intron|MFF_ENST00000524634.1_Intron|MFF_ENST00000349901.7_Intron|MFF_ENST00000476924.1_Intron	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	202					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)	p.S202S(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						TGACACCATCGCCACAACAGG	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		18918	0.0		0.0	False		,,,				2504	0.001				p.S202S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G606A	2						.						164.0	149.0	154.0					2																	228211954		2203	4300	6503	227920198	SO:0001819	synonymous_variant	56947	exon8			AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.606G>A	2.37:g.228211954G>A			227920198	NM_020194	Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Silent	SNP	ENST00000353339.3	37	CCDS2465.1																																																																																				0.423	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194	
SPHKAP	80309	broad.mit.edu	37	2	228884028	228884028	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:228884028C>A	ENST00000392056.3	-	7	1588	c.1542G>T	c.(1540-1542)caG>caT	p.Q514H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.Q514H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	514						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.Q514H(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTTCTGTGGCCTGTGGACTGG	0.527																																					p.Q514H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1542T	2						.						49.0	44.0	46.0					2																	228884028		2203	4300	6503	228592272	SO:0001583	missense	80309	exon7				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1542G>T	2.37:g.228884028C>A	ENSP00000375909:p.Gln514His		228592272	NM_001142644	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044780	0.36085	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.52526	0.66;0.66	6.03	4.19	0.49359	.	0.285709	0.39759	N	0.001275	T	0.40815	0.1132	M	0.64997	1.995	0.43803	D	0.996352	B;B	0.32893	0.221;0.389	B;B	0.31245	0.086;0.126	T	0.20806	-1.0264	10	0.33141	T	0.24	-11.3546	7.1762	0.25747	0.0:0.7094:0.1378:0.1529	.	514;514	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	H	514	ENSP00000375909:Q514H;ENSP00000339886:Q514H	ENSP00000339886:Q514H	Q	-	3	2	SPHKAP	228592272	0.985000	0.35326	1.000000	0.80357	0.998000	0.95712	0.217000	0.17603	0.839000	0.34971	0.655000	0.94253	CAG		0.527	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
TRIP12	9320	broad.mit.edu	37	2	230724269	230724269	+	Silent	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:230724269A>G	ENST00000283943.5	-	3	298	c.120T>C	c.(118-120)gcT>gcC	p.A40A	TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000409677.1_Silent_p.A82A|TRIP12_ENST00000389044.4_Silent_p.A82A|TRIP12_ENST00000543084.1_Silent_p.A82A	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	40					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.A40A(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GAACTATCACAGCAGATGATG	0.388																																					p.A40A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T120C	2						.						132.0	142.0	138.0					2																	230724269		2203	4300	6503	230432513	SO:0001819	synonymous_variant	9320	exon3			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.120T>C	2.37:g.230724269A>G			230432513	NM_004238	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	CCDS33391.1																																																																																				0.388	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	
DGKD	8527	broad.mit.edu	37	2	234367038	234367038	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:234367038G>A	ENST00000264057.2	+	22	2701	c.2689G>A	c.(2689-2691)Gcc>Acc	p.A897T	DGKD_ENST00000409813.3_Missense_Mutation_p.A853T	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	897					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.A897T(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TCATCGGATCGCCCAGGTAGT	0.607																																					p.A897T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2689A	2						.						85.0	66.0	73.0					2																	234367038		2203	4300	6503	234031777	SO:0001583	missense	8527	exon22			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2689G>A	2.37:g.234367038G>A	ENSP00000264057:p.Ala897Thr		234031777	NM_152879	Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058994	0.76074	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.35789	1.29;1.29	3.47	3.47	0.39725	Diacylglycerol kinase, accessory domain (2);	0.141191	0.47093	D	0.000253	T	0.47469	0.1447	M	0.71036	2.16	0.48632	D	0.999681	P;P	0.50066	0.903;0.931	B;P	0.49561	0.197;0.615	T	0.54997	-0.8209	10	0.45353	T	0.12	.	16.3132	0.82904	0.0:0.0:1.0:0.0	.	853;897	Q16760-2;Q16760	.;DGKD_HUMAN	T	897;853	ENSP00000264057:A897T;ENSP00000386455:A853T	ENSP00000264057:A897T	A	+	1	0	DGKD	234031777	1.000000	0.71417	0.975000	0.42487	0.823000	0.46562	7.774000	0.85478	2.272000	0.75746	0.549000	0.68633	GCC		0.607	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648	
SH3BP4	23677	broad.mit.edu	37	2	235950545	235950545	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:235950545C>T	ENST00000409212.1	+	4	1639	c.1132C>T	c.(1132-1134)Ctg>Ttg	p.L378L	SH3BP4_ENST00000392011.2_Silent_p.L378L|SH3BP4_ENST00000344528.4_Silent_p.L378L			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	378					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.L378L(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CAGCCCTGTGCTGGAGGTCAA	0.542																																					p.L378L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1132T	2						.						31.0	31.0	31.0					2																	235950545		2203	4300	6503	235615284	SO:0001819	synonymous_variant	23677	exon4			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1132C>T	2.37:g.235950545C>T			235615284	NM_014521	O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	ENST00000409212.1	37	CCDS2513.1																																																																																				0.542	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1		
AGAP1	116987	broad.mit.edu	37	2	236649682	236649682	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:236649682C>T	ENST00000304032.8	+	4	966	c.386C>T	c.(385-387)cCg>cTg	p.P129L	AGAP1_ENST00000336665.5_Missense_Mutation_p.P129L|AGAP1_ENST00000409457.1_Missense_Mutation_p.P129L|AGAP1_ENST00000409538.1_Missense_Mutation_p.P394L	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	129	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)	p.P129L(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GGGGGCCCCCCGGAGGCGCAG	0.488																																					p.P129L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C386T	2						.						72.0	73.0	73.0					2																	236649682		2203	4300	6503	236314421	SO:0001583	missense	116987	exon4			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.386C>T	2.37:g.236649682C>T	ENSP00000307634:p.Pro129Leu		236314421	NM_001037131	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	C	31	5.064353	0.93898	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000402604;ENST00000409538	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	4.8	4.8	0.61643	Mitochondrial Rho-like (1);	0.000000	0.85682	D	0.000000	D	0.83519	0.5272	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86544	0.1830	10	0.87932	D	0	.	18.2419	0.89970	0.0:1.0:0.0:0.0	.	129;129	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	L	129;129;129;76;394	ENSP00000387174:P129L;ENSP00000307634:P129L;ENSP00000338378:P129L;ENSP00000385492:P76L;ENSP00000386897:P394L	ENSP00000307634:P129L	P	+	2	0	AGAP1	236314421	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.678000	0.84035	2.357000	0.79964	0.561000	0.74099	CCG		0.488	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914	
ACKR3	57007	broad.mit.edu	37	2	237489589	237489589	+	Missense_Mutation	SNP	C	C	T	rs143911695		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:237489589C>T	ENST00000272928.3	+	2	791	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	161					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)	p.R161C(1)									GAAGATGGTACGCCGTGTCGT	0.572																																					p.R161C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C481T	2						.	C	CYS/ARG	0,4406		0,0,2203	192.0	163.0	173.0		481	2.8	0.0	2	dbSNP_134	173	1,8599	1.2+/-3.3	0,1,4299	no	missense	CXCR7	NM_020311.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	161/363	237489589	1,13005	2203	4300	6503	237154328	SO:0001583	missense	57007	exon2			BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.481C>T	2.37:g.237489589C>T	ENSP00000272928:p.Arg161Cys		237154328	NM_020311	A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	CCDS2516.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067120	0.36470	0.0	1.16E-4	ENSG00000144476	ENST00000447924;ENST00000272928	T;T	0.34275	1.37;1.37	5.7	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.47820	0.1466	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	P	0.60345	0.873	T	0.44907	-0.9297	10	0.62326	D	0.03	.	9.3878	0.38354	0.2572:0.6757:0.0:0.067	.	161	P25106	CXCR7_HUMAN	C	161	ENSP00000405945:R161C;ENSP00000272928:R161C	ENSP00000272928:R161C	R	+	1	0	CXCR7	237154328	0.996000	0.38824	0.017000	0.16124	0.023000	0.10783	3.523000	0.53488	0.762000	0.33152	-0.169000	0.13324	CGC		0.572	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311	
ACKR3	57007	broad.mit.edu	37	2	237489664	237489664	+	Missense_Mutation	SNP	G	G	A	rs143561143	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:237489664G>A	ENST00000272928.3	+	2	866	c.556G>A	c.(556-558)Gtc>Atc	p.V186I		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	186					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)	p.V186F(1)|p.V186I(1)									CCTGAAGACCGTCACGTCTGC	0.587													G|||	3	0.000599042	0.0023	0.0	5008	,	,		20879	0.0		0.0	False		,,,				2504	0.0				p.V186I												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G556A	2						.	G	ILE/VAL	9,4397	15.5+/-35.6	0,9,2194	148.0	132.0	138.0		556	1.9	1.0	2	dbSNP_134	138	0,8600		0,0,4300	yes	missense	CXCR7	NM_020311.2	29	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	benign	186/363	237489664	9,12997	2203	4300	6503	237154403	SO:0001583	missense	57007	exon2			BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.556G>A	2.37:g.237489664G>A	ENSP00000272928:p.Val186Ile		237154403	NM_020311	A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	CCDS2516.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	13.78	2.338708	0.41398	0.002043	0.0	ENSG00000144476	ENST00000447924;ENST00000272928	T;T	0.37411	1.2;1.2	5.7	1.92	0.25849	GPCR, rhodopsin-like superfamily (1);	0.207947	0.39687	N	0.001293	T	0.26882	0.0658	L	0.43598	1.365	0.36287	D	0.856179	B	0.25486	0.127	B	0.23852	0.049	T	0.19321	-1.0309	10	0.22706	T	0.39	.	10.2608	0.43425	0.3193:0.0:0.6806:0.0	.	186	P25106	CXCR7_HUMAN	I	186	ENSP00000405945:V186I;ENSP00000272928:V186I	ENSP00000272928:V186I	V	+	1	0	CXCR7	237154403	0.999000	0.42202	0.961000	0.40146	0.988000	0.76386	2.813000	0.48002	0.773000	0.33404	-0.137000	0.14449	GTC		0.587	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311	
HDAC4	9759	broad.mit.edu	37	2	240085520	240085520	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:240085520C>T	ENST00000345617.3	-	6	1381	c.590G>A	c.(589-591)aGc>aAc	p.S197N	AC017028.1_ENST00000396489.1_5'Flank|HDAC4_ENST00000541256.1_Missense_Mutation_p.S166N	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	197	Interaction with MEF2A.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S197N(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCGAGGGTCGCTGGAAATGCA	0.567																																					p.S197N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G590A	2						.						129.0	129.0	129.0					2																	240085520		2203	4300	6503	239750457	SO:0001583	missense	9759	exon6			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.590G>A	2.37:g.240085520C>T	ENSP00000264606:p.Ser197Asn		239750457	NM_006037	Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	C	4.644	0.119735	0.08881	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000541256;ENST00000393621	T;T	0.44083	0.93;0.93	4.31	3.43	0.39272	.	0.198729	0.51477	N	0.000094	T	0.28532	0.0706	L	0.31664	0.95	0.80722	D	1	B;B;B;B;B;B	0.16603	0.006;0.002;0.018;0.005;0.005;0.001	B;B;B;B;B;B	0.21360	0.004;0.009;0.034;0.012;0.002;0.002	T	0.05533	-1.0879	9	.	.	.	.	9.8366	0.40973	0.0:0.8323:0.0:0.1677	.	192;80;166;166;165;197	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	N	197;80;166;80	ENSP00000264606:S197N;ENSP00000443057:S166N	.	S	-	2	0	HDAC4	239750457	0.124000	0.22315	0.157000	0.22605	0.236000	0.25371	0.644000	0.24766	0.947000	0.37659	-0.140000	0.14226	AGC		0.567	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037	
OR6B3	150681	broad.mit.edu	37	2	240984767	240984767	+	Silent	SNP	G	G	A	rs200717003		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:240984767G>A	ENST00000319423.4	-	1	722	c.723C>T	c.(721-723)tgC>tgT	p.C241C	PRR21_ENST00000408934.1_5'Flank	NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C241C(1)		endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GGTGAGAGGCGCAGGTGAAGA	0.587																																					p.C241C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C723T	2						.						55.0	63.0	60.0					2																	240984767		2103	4221	6324	240633440	SO:0001819	synonymous_variant	150681	exon1				CCDS42837.1	2q37.3	2013-09-23	2002-11-13	2002-11-15	ENSG00000178586	ENSG00000178586		"""GPCR / Class A : Olfactory receptors"""	15042	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 3 pseudogene"""	OR6B3P			Standard	NM_173351		Approved	OR6B3Q	uc010zoe.2	Q8NGW1	OTTHUMG00000152399	ENST00000319423.4:c.723C>T	2.37:g.240984767G>A			240633440	NM_173351	Q6IFH3	Silent	SNP	ENST00000319423.4	37	CCDS42837.1																																																																																				0.587	OR6B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326078.1		
PASK	23178	broad.mit.edu	37	2	242076594	242076594	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:242076594C>G	ENST00000405260.1	-	7	1660	c.962G>C	c.(961-963)aGc>aCc	p.S321T	PASK_ENST00000358649.4_Missense_Mutation_p.S321T|PASK_ENST00000539818.1_Missense_Mutation_p.S105T|PASK_ENST00000403638.3_Missense_Mutation_p.S321T|PASK_ENST00000234040.4_Missense_Mutation_p.S321T|PASK_ENST00000544142.1_Missense_Mutation_p.S135T	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	321					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.S321T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CGCCTCCTCGCTGCTGGGTTG	0.582																																					p.S321T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G962C	2						.						57.0	58.0	58.0					2																	242076594		2203	4300	6503	241725267	SO:0001583	missense	23178	exon7			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.962G>C	2.37:g.242076594C>G	ENSP00000384016:p.Ser321Thr		241725267	NM_015148	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	CCDS2545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.320|9.320	1.057761|1.057761	0.19907|0.19907	.|.	.|.	ENSG00000115687|ENSG00000115687	ENST00000433589|ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638;ENST00000415234	.|T;T;T;T;T;T;T	.|0.67698	.|-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.26|5.26	1.34|1.34	0.21922|0.21922	.|.	.|1.232240	.|0.05848	.|N	.|0.620704	T|T	0.60971|0.60971	0.2310|0.2310	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	.|P;P;P;P;P	.|0.45827	.|0.791;0.744;0.867;0.787;0.791	.|B;B;B;B;B	.|0.40702	.|0.138;0.269;0.269;0.338;0.138	T|T	0.49153|0.49153	-0.8969|-0.8969	5|10	.|0.38643	.|T	.|0.18	.|.	5.5286|5.5286	0.16972|0.16972	0.0:0.4476:0.3099:0.2425|0.0:0.4476:0.3099:0.2425	.|.	.|286;135;321;321;321	.|B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.|.;.;.;.;PASK_HUMAN	P|T	136|321;135;321;321;105;321;105	.|ENSP00000234040:S321T;ENSP00000441374:S135T;ENSP00000384016:S321T;ENSP00000351475:S321T;ENSP00000443083:S105T;ENSP00000384438:S321T;ENSP00000400734:S105T	.|ENSP00000234040:S321T	A|S	-|-	1|2	0|0	PASK|PASK	241725267|241725267	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	0.307000|0.307000	0.19296|0.19296	0.211000|0.211000	0.20683|0.20683	-0.499000|-0.499000	0.04595|0.04595	GCG|AGC		0.582	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148	
PASK	23178	broad.mit.edu	37	2	242077460	242077460	+	Missense_Mutation	SNP	C	C	T	rs372015883		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:242077460C>T	ENST00000405260.1	-	6	1482	c.784G>A	c.(784-786)Ggg>Agg	p.G262R	PASK_ENST00000358649.4_Missense_Mutation_p.G262R|PASK_ENST00000539818.1_Missense_Mutation_p.G46R|PASK_ENST00000403638.3_Missense_Mutation_p.G262R|PASK_ENST00000234040.4_Missense_Mutation_p.G262R|PASK_ENST00000544142.1_Missense_Mutation_p.G76R	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	262					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.G262R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GACACGTACCCGTGAAGATGA	0.537																																					p.G262R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G784A	2						.						140.0	110.0	120.0					2																	242077460		2203	4300	6503	241726133	SO:0001583	missense	23178	exon6			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.784G>A	2.37:g.242077460C>T	ENSP00000384016:p.Gly262Arg		241726133	NM_015148	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918650	0.52546	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638;ENST00000415234	T;T;T;T;T;T;T	0.67865	-0.29;-0.15;-0.29;-0.29;-0.29;-0.29;-0.15	4.91	4.91	0.64330	.	0.000000	0.51477	D	0.000095	T	0.82098	0.4963	M	0.80616	2.505	0.32526	N	0.535544	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.988;0.998	D	0.87077	0.2163	10	0.87932	D	0	.	15.002	0.71479	0.0:1.0:0.0:0.0	.	76;262;262;262	F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;PASK_HUMAN	R	262;76;262;262;46;262;46	ENSP00000234040:G262R;ENSP00000441374:G76R;ENSP00000384016:G262R;ENSP00000351475:G262R;ENSP00000443083:G46R;ENSP00000384438:G262R;ENSP00000400734:G46R	ENSP00000234040:G262R	G	-	1	0	PASK	241726133	0.964000	0.33143	0.463000	0.27130	0.053000	0.15095	4.378000	0.59568	2.247000	0.74100	0.650000	0.86243	GGG		0.537	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148	
PXDN	7837	broad.mit.edu	37	2	1652984	1652984	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:1652984delG	ENST00000252804.4	-	17	2618	c.2568delC	c.(2566-2568)cccfs	p.P856fs		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	856					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.C857fs*5(2)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAGAGAAGCAGGGGGGGTCGT	0.662																																					p.P856fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.2568delC	2						.						21.0	24.0	23.0					2																	1652984		2159	4257	6416	1631991	SO:0001589	frameshift_variant	7837	exon17			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2568delC	2.37:g.1652984delG	ENSP00000252804:p.Pro856fs		1631991	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Frame_Shift_Del	DEL	ENST00000252804.4	37	CCDS46221.1																																																																																				0.662	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455	
DDX1	1653	broad.mit.edu	37	2	15758382	15758382	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:15758382delA	ENST00000381341.2	+	17	1583	c.1194delA	c.(1192-1194)ggafs	p.G398fs	DDX1_ENST00000233084.3_Frame_Shift_Del_p.G398fs			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	398	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)	p.R400fs*4(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		CCTCTGATGGAAAAAGACTTC	0.353																																					p.G398fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1194delA	2						.						105.0	121.0	116.0					2																	15758382		2203	4298	6501	15675833	SO:0001589	frameshift_variant	1653	exon16			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.1194delA	2.37:g.15758382delA	ENSP00000370745:p.Gly398fs		15675833	NM_004939	B4DME8|B4DPN6	Frame_Shift_Del	DEL	ENST00000381341.2	37	CCDS1686.1																																																																																				0.353	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939	
ITSN2	50618	broad.mit.edu	37	2	24522848	24522848	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:24522848C>T	ENST00000355123.4	-	12	1717	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H	ITSN2_ENST00000361999.3_Missense_Mutation_p.R425H|ITSN2_ENST00000406921.3_Missense_Mutation_p.R425H	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	425					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.R424H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCTCTAAGCGTTTTTCTAA	0.373																																					p.R425H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1274A	2						.						199.0	183.0	189.0					2																	24522848		2203	4300	6503	24376352	SO:0001583	missense	50618	exon12			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1274G>A	2.37:g.24522848C>T	ENSP00000347244:p.Arg425His		24376352	NM_019595	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611770	0.66558	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;T	0.81247	0.24;0.23;0.24;0.67;-1.47	5.36	5.36	0.76844	.	0.248135	0.21692	U	0.070559	T	0.72598	0.3480	L	0.42245	1.32	0.38370	D	0.944857	B;B;B;B	0.28667	0.219;0.219;0.03;0.017	B;B;B;B	0.21360	0.034;0.034;0.011;0.005	T	0.73751	-0.3884	10	0.62326	D	0.03	.	11.4015	0.49873	0.0:0.8842:0.0:0.1158	.	425;425;425;425	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	H	425;425;425;449;425;450	ENSP00000354561:R425H;ENSP00000347244:R425H;ENSP00000370250:R425H;ENSP00000384499:R425H;ENSP00000391224:R450H	ENSP00000347244:R425H	R	-	2	0	ITSN2	24376352	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.302000	0.43637	2.894000	0.99253	0.591000	0.81541	CGC		0.373	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277	
ASXL2	55252	broad.mit.edu	37	2	25966572	25966572	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:25966572C>T	ENST00000435504.4	-	13	2927	c.2634G>A	c.(2632-2634)gtG>gtA	p.V878V	ASXL2_ENST00000336112.4_Silent_p.V850V|ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000404843.1_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	878					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)	p.V878V(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCACTGGCACACTAGCAT	0.483																																					p.V878V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2634A	2						.						105.0	107.0	106.0					2																	25966572		2030	4179	6209	25820076	SO:0001819	synonymous_variant	55252	exon12					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2634G>A	2.37:g.25966572C>T			25820076	NM_018263	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Silent	SNP	ENST00000435504.4	37																																																																																					0.483	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263	
KIF3C	3797	broad.mit.edu	37	2	26204488	26204488	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:26204488C>T	ENST00000264712.3	-	1	878	c.299G>A	c.(298-300)gGc>gAc	p.G100D	KIF3C_ENST00000405914.1_Missense_Mutation_p.G100D	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	100	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.G100D(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGCCAGTGCCCGTCTGGCC	0.607																																					p.G100D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G299A	2						.						76.0	70.0	72.0					2																	26204488		2203	4300	6503	26057992	SO:0001583	missense	3797	exon1				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.299G>A	2.37:g.26204488C>T	ENSP00000264712:p.Gly100Asp		26057992	NM_002254	O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496245	0.85069	.	.	ENSG00000084731	ENST00000264712;ENST00000405914	D;D	0.83506	-1.73;-1.73	5.76	5.76	0.90799	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	H	0.99851	4.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97804	1.0246	10	0.87932	D	0	.	17.471	0.87646	0.0:1.0:0.0:0.0	.	100;100	B7ZM25;O14782	.;KIF3C_HUMAN	D	100	ENSP00000264712:G100D;ENSP00000385030:G100D	ENSP00000264712:G100D	G	-	2	0	KIF3C	26057992	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.724000	0.93272	0.563000	0.77884	GGC		0.607	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1		
GPR113	165082	broad.mit.edu	37	2	26535919	26535919	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:26535919C>T	ENST00000311519.1	-	10	1544	c.1545G>A	c.(1543-1545)gcG>gcA	p.A515A	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Silent_p.A316A|GPR113_ENST00000541401.1_Silent_p.A118A|GPR113_ENST00000421160.2_Silent_p.A446A	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	515					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A316A(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGCCTCTGCCGCCTGCCCTG	0.612																																					p.A446A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1338A	2						.						109.0	93.0	99.0					2																	26535919		2203	4300	6503	26389423	SO:0001819	synonymous_variant	165082	exon9			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1545G>A	2.37:g.26535919C>T			26389423	NM_001145169	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	ENST00000311519.1	37	CCDS46239.1																																																																																				0.612	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835	
GTF3C2	2976	broad.mit.edu	37	2	27549613	27549613	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:27549613A>G	ENST00000359541.2	-	19	3094	c.2665T>C	c.(2665-2667)Ttc>Ctc	p.F889L	GTF3C2_ENST00000264720.3_Missense_Mutation_p.F889L|MPV17_ENST00000357186.6_5'Flank			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	889					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)		p.F889L(1)		central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGGTTGGAACATAGCATTG	0.597																																					p.F889L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2665C	2						.						101.0	100.0	100.0					2																	27549613		2203	4300	6503	27403117	SO:0001583	missense	2976	exon19			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.2665T>C	2.37:g.27549613A>G	ENSP00000352536:p.Phe889Leu		27403117	NM_001035521	D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	A	18.87	3.715698	0.68844	.	.	ENSG00000115207	ENST00000359541;ENST00000264720	T;T	0.72725	-0.68;-0.68	5.31	5.31	0.75309	.	0.105591	0.64402	D	0.000004	T	0.74336	0.3703	L	0.29908	0.895	0.52501	D	0.999952	D	0.63880	0.993	D	0.68192	0.956	T	0.74420	-0.3671	10	0.41790	T	0.15	-5.4326	13.2798	0.60208	1.0:0.0:0.0:0.0	.	889	Q8WUA4	TF3C2_HUMAN	L	889	ENSP00000352536:F889L;ENSP00000264720:F889L	ENSP00000264720:F889L	F	-	1	0	GTF3C2	27403117	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.174000	0.50847	2.227000	0.72691	0.533000	0.62120	TTC		0.597	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2		
IFT172	26160	broad.mit.edu	37	2	27677513	27677513	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:27677513G>A	ENST00000260570.3	-	31	3489	c.3386C>T	c.(3385-3387)gCg>gTg	p.A1129V		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1129					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)		p.A1129V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GAGTTCAAACGCAAATTCAAA	0.443																																					p.A1129V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3386T	2						.						58.0	59.0	58.0					2																	27677513		2203	4300	6503	27531017	SO:0001583	missense	26160	exon31			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3386C>T	2.37:g.27677513G>A	ENSP00000260570:p.Ala1129Val		27531017	NM_015662	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	G	34	5.294093	0.95546	.	.	ENSG00000138002	ENST00000260570	T	0.42900	0.96	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.72882	0.3516	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79519	-0.1770	10	0.87932	D	0	-10.0294	17.8942	0.88881	0.0:0.0:1.0:0.0	.	1129	Q9UG01	IF172_HUMAN	V	1129	ENSP00000260570:A1129V	ENSP00000260570:A1129V	A	-	2	0	IFT172	27531017	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.165000	0.94761	2.577000	0.86979	0.655000	0.94253	GCG		0.443	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	
GALNT14	79623	broad.mit.edu	37	2	31155033	31155033	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:31155033C>A	ENST00000349752.5	-	10	1598	c.959G>T	c.(958-960)gGg>gTg	p.G320V	GALNT14_ENST00000324589.5_Missense_Mutation_p.G325V|GALNT14_ENST00000406653.1_Missense_Mutation_p.G300V|GALNT14_ENST00000356174.3_Missense_Mutation_p.G287V|GALNT14_ENST00000420311.2_Missense_Mutation_p.G285V|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	320	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.G320V(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TAGGCTGCCCCCGCACATCCA	0.552																																					p.G320V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G959T	2						.						97.0	91.0	93.0					2																	31155033		2203	4300	6503	31008537	SO:0001583	missense	79623	exon10			AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.959G>T	2.37:g.31155033C>A	ENSP00000288988:p.Gly320Val		31008537	NM_024572	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	C	29.6	5.016755	0.93404	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	4.98	4.98	0.66077	.	0.054457	0.64402	D	0.000001	D	0.92120	0.7502	H	0.98866	4.355	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.973;0.998;0.999;0.998	D;P;P;D;P	0.72075	0.965;0.559;0.856;0.976;0.868	D	0.95542	0.8613	10	0.87932	D	0	.	18.2582	0.90025	0.0:1.0:0.0:0.0	.	285;287;325;320;300	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	V	320;325;300;287;285;287	ENSP00000288988:G320V;ENSP00000314500:G325V;ENSP00000385435:G300V;ENSP00000348497:G287V;ENSP00000415514:G285V;ENSP00000406399:G287V	ENSP00000314500:G325V	G	-	2	0	GALNT14	31008537	1.000000	0.71417	0.869000	0.34112	0.987000	0.75469	7.818000	0.86416	2.315000	0.78130	0.561000	0.74099	GGG		0.552	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572	
LTBP1	4052	broad.mit.edu	37	2	33412086	33412086	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:33412086G>A	ENST00000404816.2	+	6	1718	c.1365G>A	c.(1363-1365)acG>acA	p.T455T	LTBP1_ENST00000418533.2_Silent_p.T129T|LTBP1_ENST00000407925.1_Silent_p.T129T|LTBP1_ENST00000404525.1_Silent_p.T129T|LTBP1_ENST00000354476.3_Silent_p.T455T|LTBP1_ENST00000402934.1_Silent_p.T129T|LTBP1_ENST00000390003.4_Silent_p.T129T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	455					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.T455T(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CGTTGGGGACGCATGTCATCC	0.502																																					p.T129T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G387A	2						.						111.0	95.0	100.0					2																	33412086		2203	4300	6503	33265590	SO:0001819	synonymous_variant	4052	exon2				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1365G>A	2.37:g.33412086G>A			33265590	NM_000627	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	CCDS33177.2																																																																																				0.502	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943	
RMDN2	151393	broad.mit.edu	37	2	38179034	38179034	+	Intron	SNP	G	G	A	rs142128542	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:38179034G>A	ENST00000406384.1	+	3	646				RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Missense_Mutation_p.D226N|RMDN2_ENST00000402091.3_Missense_Mutation_p.D226N|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000407257.1_Missense_Mutation_p.D226N|RMDN2-AS1_ENST00000414365.2_RNA	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)		p.D226N(1)									TTCCTCTCCCGATCAACAAAA	0.393													G|||	3	0.000599042	0.0	0.0	5008	,	,		19310	0.003		0.0	False		,,,				2504	0.0				p.D226N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G676A	2						.						130.0	129.0	129.0					2																	38179034		2203	4299	6502	38032538	SO:0001627	intron_variant	151393	exon2			AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.453-22149G>A	2.37:g.38179034G>A			38032538	NM_144713	A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	ENST00000406384.1	37	CCDS54351.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	0.087	-1.172779	0.01646	.	.	ENSG00000115841	ENST00000407257;ENST00000234195;ENST00000402091	T;T	0.46063	0.88;0.88	4.32	-8.63	0.00878	.	4.208900	0.00559	N	0.000277	T	0.14056	0.0340	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.17077	-1.0381	10	0.18710	T	0.47	-9.1902	0.5473	0.00656	0.3504:0.2599:0.2115:0.1783	.	226	Q96LZ7-2	.	N	226	ENSP00000385049:D226N;ENSP00000234195:D226N	ENSP00000234195:D226N	D	+	1	0	FAM82A1	38032538	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.046000	0.03525	-2.464000	0.00534	-1.815000	0.00603	GAT		0.393	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713	
PKDCC	91461	broad.mit.edu	37	2	42284408	42284408	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:42284408T>A	ENST00000294964.5	+	6	1450	c.1270T>A	c.(1270-1272)Tgc>Agc	p.C424S	PKDCC_ENST00000480099.1_3'UTR	NM_138370.2	NP_612379.2			protein kinase domain containing, cytoplasmic									p.C424S(1)		breast(2)|kidney(1)|lung(5)	8						AGACTACCGCTGCTGGCCATC	0.557																																					p.C424S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1270A	2						.						124.0	117.0	120.0					2																	42284408		2203	4300	6503	42137912	SO:0001583	missense	91461	exon6				CCDS33186.2	2p21	2014-01-28	2012-12-07		ENSG00000162878	ENSG00000162878			25123	protein-coding gene	gene with protein product	"""vertebrate lonesome kinase"""	614150	"""protein kinase domain containing, cytoplasmic homolog (mouse)"""			19097194, 19465597	Standard	NM_138370		Approved	SgK493, Vlk	uc002rsg.3	Q504Y2	OTTHUMG00000152303	ENST00000294964.5:c.1270T>A	2.37:g.42284408T>A	ENSP00000294964:p.Cys424Ser		42137912	NM_138370		Missense_Mutation	SNP	ENST00000294964.5	37	CCDS33186.2	.	.	.	.	.	.	.	.	.	.	T	19.03	3.748264	0.69533	.	.	ENSG00000162878	ENST00000294964	.	.	.	5.18	4.0	0.46444	Protein kinase, catalytic domain (1);	0.044100	0.85682	N	0.000000	T	0.69260	0.3091	L	0.60455	1.87	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.69705	-0.5073	9	0.87932	D	0	-25.8481	9.5184	0.39120	0.158:0.0:0.0:0.842	.	424	Q504Y2	PKDCC_HUMAN	S	424	.	ENSP00000294964:C424S	C	+	1	0	PKDCC	42137912	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	7.517000	0.81783	0.783000	0.33636	0.533000	0.62120	TGC		0.557	PKDCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325745.3		
PLEKHH2	130271	broad.mit.edu	37	2	43903432	43903432	+	Intron	DEL	A	A	-	rs201476048		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:43903432delA	ENST00000282406.4	+	3	233					NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2						negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACATACCCTTAAAAAATGATG	0.517																																					p.F10fs												.	.	0			c.30delT	2						.																																			43756936	SO:0001627	intron_variant	728819	exon1			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.124-2570A>-	2.37:g.43903432delA			43756936	NM_001101330	Q5JPJ6|Q6P4Q1|Q8N3Q3	Frame_Shift_Del	DEL	ENST00000282406.4	37	CCDS1812.1																																																																																				0.517	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069	
ABCG5	64240	broad.mit.edu	37	2	44058953	44058953	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:44058953C>T	ENST00000260645.1	-	4	595	c.456G>A	c.(454-456)gcG>gcA	p.A152A	ABCG5_ENST00000543989.1_5'UTR|ABCG5_ENST00000405322.1_Silent_p.A71A	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	152	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)	p.A152A(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TGGCCAGCAGCGCGGTGTAGT	0.687																																					p.A152A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G456A	2						.						12.0	15.0	14.0					2																	44058953		2197	4291	6488	43912457	SO:0001819	synonymous_variant	64240	exon4			T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.456G>A	2.37:g.44058953C>T			43912457	NM_022436	Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	ENST00000260645.1	37	CCDS1814.1																																																																																				0.687	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436	
SIX3	6496	broad.mit.edu	37	2	45171841	45171841	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:45171841C>T	ENST00000260653.3	+	2	1283	c.941C>T	c.(940-942)gCa>gTa	p.A314V	SIX3-AS1_ENST00000419364.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	314					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)	p.A314V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACGGAGCGCGCAGACACCGGC	0.701																																					p.A314V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C941T	2						.						18.0	19.0	18.0					2																	45171841		2083	4073	6156	45025345	SO:0001583	missense	6496	exon2			AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.941C>T	2.37:g.45171841C>T	ENSP00000260653:p.Ala314Val		45025345	NM_005413	D6W5A5|Q53T42	Missense_Mutation	SNP	ENST00000260653.3	37	CCDS1821.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386446	0.42308	.	.	ENSG00000138083	ENST00000260653	D	0.91996	-2.95	3.21	3.21	0.36854	.	0.173864	0.36665	U	0.002479	D	0.83945	0.5364	N	0.16478	0.41	0.37717	D	0.92479	B	0.02656	0.0	B	0.04013	0.001	T	0.79883	-0.1615	10	0.26408	T	0.33	.	13.1961	0.59738	0.0:1.0:0.0:0.0	.	314	O95343	SIX3_HUMAN	V	314	ENSP00000260653:A314V	ENSP00000260653:A314V	A	+	2	0	SIX3	45025345	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.082000	0.50128	1.334000	0.45468	0.393000	0.25936	GCA		0.701	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	NM_005413	
TTC7A	57217	broad.mit.edu	37	2	47205968	47205968	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:47205968G>A	ENST00000319190.5	+	5	1054	c.686G>A	c.(685-687)tGt>tAt	p.C229Y	TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Missense_Mutation_p.C229Y|TTC7A_ENST00000409245.1_Missense_Mutation_p.C195Y|TTC7A_ENST00000263737.6_5'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	229					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)			p.C229Y(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CTGAAAGGCTGTCACCCGCTT	0.522																																					p.C229Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G686A	2						.						128.0	102.0	111.0					2																	47205968		2203	4300	6503	47059472	SO:0001583	missense	57217	exon5			AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.686G>A	2.37:g.47205968G>A	ENSP00000316699:p.Cys229Tyr		47059472	NM_020458	Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	G	8.421	0.846290	0.16963	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000434093	T;T;T	0.28895	2.0;2.01;1.59	5.61	-0.914	0.10497	.	0.905153	0.09567	N	0.784758	T	0.10208	0.0250	N	0.03608	-0.345	0.19575	N	0.999966	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.36672	-0.9738	10	0.07990	T	0.79	-0.1763	5.3329	0.15942	0.103:0.2129:0.5278:0.1562	.	229;195;229;57;195	Q2T9J9;B3KPK7;Q9ULT0;Q6P0M3;G5E9G4	.;.;TTC7A_HUMAN;.;.	Y	195;229;229;56	ENSP00000386307:C195Y;ENSP00000316699:C229Y;ENSP00000378320:C229Y	ENSP00000316699:C229Y	C	+	2	0	TTC7A	47059472	0.000000	0.05858	0.055000	0.19348	0.043000	0.13939	-0.060000	0.11712	0.104000	0.17725	-0.867000	0.03001	TGT		0.522	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927	
NRXN1	9378	broad.mit.edu	37	2	50765595	50765595	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:50765595A>C	ENST00000406316.2	-	10	3415	c.1939T>G	c.(1939-1941)Ttg>Gtg	p.L647V	NRXN1_ENST00000406859.3_Missense_Mutation_p.L647V|NRXN1_ENST00000401669.2_Missense_Mutation_p.L647V|NRXN1_ENST00000404971.1_Missense_Mutation_p.L687V|NRXN1_ENST00000402717.3_Missense_Mutation_p.L639V|NRXN1_ENST00000405472.3_Missense_Mutation_p.L639V|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	647	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.L688V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCGATGAACAAATCCCTGATG	0.522																																					p.L687V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2059G	2						.						184.0	199.0	194.0					2																	50765595		2199	4300	6499	50619099	SO:0001583	missense	9378	exon11			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1939T>G	2.37:g.50765595A>C	ENSP00000384311:p.Leu647Val		50619099	NM_001135659	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.682670	0.68157	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.16	-0.676	0.11361	.	0.000000	0.64402	D	0.000001	T	0.81470	0.4829	L	0.49126	1.545	0.33700	D	0.614485	D;D;D	0.76494	0.999;0.985;0.998	D;D;D	0.79784	0.984;0.993;0.989	T	0.82798	-0.0279	10	0.62326	D	0.03	.	10.4649	0.44602	0.5328:0.0:0.4672:0.0	.	687;647;639	Q9ULB1-3;F8WB18;A7E294	.;.;.	V	687;647;639;647;688;639;647	ENSP00000385142:L687V;ENSP00000384311:L647V;ENSP00000434015:L639V;ENSP00000385017:L647V;ENSP00000385434:L639V;ENSP00000385681:L647V	ENSP00000385017:L647V	L	-	1	2	NRXN1	50619099	0.991000	0.36638	0.989000	0.46669	0.997000	0.91878	0.908000	0.28545	-0.246000	0.09611	0.477000	0.44152	TTG		0.522	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
BMP10	27302	broad.mit.edu	37	2	69098272	69098272	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:69098272C>T	ENST00000295379.1	-	1	377	c.219G>A	c.(217-219)acG>acA	p.T73T		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	73					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)	p.T73T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTGAATCCTGCGTGGGGATGT	0.478																																					p.T73T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G219A	2						.						162.0	152.0	156.0					2																	69098272		2203	4300	6503	68951776	SO:0001819	synonymous_variant	27302	exon1			AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.219G>A	2.37:g.69098272C>T			68951776	NM_014482	Q53R17|Q6NTE0	Silent	SNP	ENST00000295379.1	37	CCDS1890.1																																																																																				0.478	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482	
EGR4	1961	broad.mit.edu	37	2	73518744	73518744	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:73518744G>A	ENST00000545030.1	-	2	1685	c.1611C>T	c.(1609-1611)ggC>ggT	p.G537G	EGR4_ENST00000436467.2_Silent_p.G434G	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	537					cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G434G(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AAGGCTTCTCGCCGGTGTGGG	0.662																																					p.G537G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1611T	2						.																																			73372252	SO:0001819	synonymous_variant	1961	exon2				CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"""Zinc fingers, C2H2-type"""	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.1611C>T	2.37:g.73518744G>A			73372252	NM_001965	B2RAE3|G3V1T5|Q2Z1P5	Silent	SNP	ENST00000545030.1	37	CCDS1925.2																																																																																				0.662	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965	
STAMBP	10617	broad.mit.edu	37	2	74074671	74074671	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:74074671G>A	ENST00000394070.2	+	5	1036	c.533G>A	c.(532-534)cGa>cAa	p.R178Q	STAMBP_ENST00000394073.1_Missense_Mutation_p.R178Q|STAMBP_ENST00000536064.1_Missense_Mutation_p.R178Q|STAMBP_ENST00000409707.1_Missense_Mutation_p.R178Q|STAMBP_ENST00000339566.3_Missense_Mutation_p.R178Q	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	178					JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)	p.R178Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						GAAAAAGAGCGACTGAAAATT	0.512																																					p.R178Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G533A	2						.						99.0	89.0	93.0					2																	74074671		2203	4300	6503	73928179	SO:0001583	missense	10617	exon6			BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.533G>A	2.37:g.74074671G>A	ENSP00000377633:p.Arg178Gln		73928179	NM_006463	B5M0B6|D6W5H7|Q3MJE7	Missense_Mutation	SNP	ENST00000394070.2	37	CCDS1929.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875972	0.33162	.	.	ENSG00000124356	ENST00000339566;ENST00000539933;ENST00000409707;ENST00000432295;ENST00000394073;ENST00000394070;ENST00000536064	T;T;T;T;T;T	0.54866	1.78;1.78;1.68;1.78;1.78;0.55	4.88	4.0	0.46444	.	0.062767	0.64402	D	0.000003	T	0.32793	0.0841	L	0.31664	0.95	0.80722	D	1	P	0.52692	0.955	B	0.37508	0.252	T	0.19031	-1.0318	10	0.07813	T	0.8	-21.3023	12.449	0.55667	0.0831:0.0:0.9169:0.0	.	178	O95630	STABP_HUMAN	Q	178	ENSP00000344742:R178Q;ENSP00000386548:R178Q;ENSP00000413874:R178Q;ENSP00000377636:R178Q;ENSP00000377633:R178Q;ENSP00000443502:R178Q	ENSP00000344742:R178Q	R	+	2	0	STAMBP	73928179	1.000000	0.71417	0.927000	0.36925	0.990000	0.78478	5.947000	0.70242	1.423000	0.47198	0.650000	0.86243	CGA		0.512	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252048.2	NM_006463	
TET3	200424	broad.mit.edu	37	2	74320707	74320707	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:74320707C>T	ENST00000409262.3	+	7	2776	c.2776C>T	c.(2776-2778)Cgg>Tgg	p.R926W		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	926					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)	p.R203W(1)|p.R926W(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAAGGAAGGACGGCCCTTCGC	0.602																																					p.R926W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2776T	2						.						67.0	73.0	71.0					2																	74320707		2055	4213	6268	74174215	SO:0001583	missense	200424	exon7				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.2776C>T	2.37:g.74320707C>T	ENSP00000386869:p.Arg926Trp		74174215	NM_144993	A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701372	0.68501	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.14640	2.49	5.21	1.2	0.21068	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.000000	0.85682	D	0.000000	T	0.34919	0.0914	M	0.82323	2.585	0.52099	D	0.999942	D	0.89917	1.0	D	0.97110	1.0	T	0.04635	-1.0937	10	0.87932	D	0	.	8.489	0.33089	0.5153:0.4111:0.0:0.0736	.	926	O43151	TET3_HUMAN	W	926	ENSP00000386869:R926W	ENSP00000233310:R926W	R	+	1	2	TET3	74174215	0.979000	0.34478	0.373000	0.26003	0.843000	0.47879	1.156000	0.31712	0.030000	0.15379	-0.169000	0.13324	CGG		0.602	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4		
SEMA4F	10505	broad.mit.edu	37	2	74883687	74883687	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:74883687G>A	ENST00000357877.2	+	2	321	c.172G>A	c.(172-174)Gca>Aca	p.A58T	SEMA4F_ENST00000339773.5_Missense_Mutation_p.A58T	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	58	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)	p.A58T(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CACCCGGTTCGCAGTCCCTCA	0.537																																					p.A58T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G172A	2						.						120.0	111.0	114.0					2																	74883687		2203	4300	6503	74737195	SO:0001583	missense	10505	exon2			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.172G>A	2.37:g.74883687G>A	ENSP00000350547:p.Ala58Thr		74737195	NM_004263	Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	2.097	-0.406884	0.04832	.	.	ENSG00000135622	ENST00000357877;ENST00000339773;ENST00000434486;ENST00000453930	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.9	-3.12	0.05282	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.762936	0.10927	N	0.618764	T	0.07773	0.0195	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.33007	-0.9885	10	0.20519	T	0.43	.	3.6952	0.08361	0.4802:0.0:0.2039:0.3159	.	58;58;58;58	B7Z931;C9K0A1;O95754-2;O95754	.;.;.;SEM4F_HUMAN	T	58	ENSP00000350547:A58T;ENSP00000342675:A58T;ENSP00000407698:A58T;ENSP00000409141:A58T	ENSP00000342675:A58T	A	+	1	0	SEMA4F	74737195	0.109000	0.22037	0.009000	0.14445	0.916000	0.54674	0.137000	0.15995	-0.332000	0.08489	-0.143000	0.13931	GCA		0.537	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263	
GCFC2	6936	broad.mit.edu	37	2	75907392	75907392	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:75907392C>T	ENST00000321027.3	-	12	1872	c.1739G>A	c.(1738-1740)aGt>aAt	p.S580N	MRPL19_ENST00000358788.6_Intron|GCFC2_ENST00000409857.3_Missense_Mutation_p.S542N|GCFC2_ENST00000541687.1_3'UTR	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	580					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	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)	p.S580N(1)									TGTTATTAAACTTGTTGTCTG	0.343																																					p.S580N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1739A	2						.						123.0	125.0	124.0					2																	75907392		2203	4298	6501	75760900	SO:0001583	missense	6936	exon12			AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.1739G>A	2.37:g.75907392C>T	ENSP00000318690:p.Ser580Asn		75760900	NM_003203	A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	37	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351137	0.24512	.	.	ENSG00000005436	ENST00000321027;ENST00000409857	T;T	0.40225	1.04;1.04	5.42	3.6	0.41247	GC-rich sequence DNA-binding factor domain (1);	0.331367	0.39909	N	0.001228	T	0.22166	0.0534	N	0.13140	0.3	0.80722	D	1	B	0.17852	0.024	B	0.21917	0.037	T	0.04825	-1.0924	10	0.12766	T	0.61	-4.8208	7.5769	0.27942	0.1615:0.7534:0.0:0.0851	.	580	P16383	GCF_HUMAN	N	580;542	ENSP00000318690:S580N;ENSP00000386552:S542N	ENSP00000318690:S580N	S	-	2	0	C2orf3	75760900	0.997000	0.39634	0.944000	0.38274	0.985000	0.73830	0.857000	0.27831	0.768000	0.33290	0.650000	0.86243	AGT		0.343	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203	
REG3G	130120	broad.mit.edu	37	2	79253280	79253280	+	Silent	SNP	C	C	T	rs112455744	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:79253280C>T	ENST00000272324.5	+	2	245	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	REG3G_ENST00000409471.1_Silent_p.L21L|REG3G_ENST00000393897.2_Silent_p.L21L	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	21					acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.L21L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTCATTCTCCTGTGTCAGGT	0.542																																					p.L21L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C61T	2						.						217.0	165.0	183.0					2																	79253280		2203	4300	6503	79106788	SO:0001819	synonymous_variant	130120	exon2			AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.61C>T	2.37:g.79253280C>T			79106788	NM_001008387	A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Silent	SNP	ENST00000272324.5	37	CCDS1962.1																																																																																				0.542	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448	
LRRTM1	347730	broad.mit.edu	37	2	80530343	80530343	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:80530343G>A	ENST00000295057.3	-	2	1258	c.602C>T	c.(601-603)gCg>gTg	p.A201V	CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.A201V|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	201					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.A201V(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AGAGTTGCGCGCCAGACTCTT	0.582										HNSCC(69;0.2)																											p.A201V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C602T	2						.						74.0	77.0	76.0					2																	80530343		2203	4300	6503	80383854	SO:0001583	missense	347730	exon2			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.602C>T	2.37:g.80530343G>A	ENSP00000295057:p.Ala201Val		80383854	NM_178839	A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306957	0.81247	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268	T;T;T	0.79554	-1.28;-1.28;4.33	4.93	4.93	0.64822	.	0.000000	0.85682	U	0.000000	D	0.83727	0.5317	L	0.28014	0.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83007	-0.0174	9	.	.	.	.	18.1217	0.89573	0.0:0.0:1.0:0.0	.	201	Q86UE6	LRRT1_HUMAN	V	201	ENSP00000295057:A201V;ENSP00000386646:A201V;ENSP00000415368:A201V	.	A	-	2	0	LRRTM1	80383854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.232000	0.73038	0.655000	0.94253	GCG		0.582	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839	
SFTPB	6439	broad.mit.edu	37	2	85892794	85892794	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:85892794G>A	ENST00000519937.2	-	5	536	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L	SFTPB_ENST00000393822.3_Silent_p.L185L|SFTPB_ENST00000342375.3_Silent_p.L173L|SFTPB_ENST00000409383.1_Silent_p.L185L			P07988	PSPB_HUMAN	surfactant protein B	173					organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)		p.L173L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						AGCTTGTCCAGCAGAGGGTCT	0.672																																					p.L185L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C553T	2						.						50.0	53.0	52.0					2																	85892794		2203	4300	6503	85746305	SO:0001819	synonymous_variant	6439	exon6			J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"""surfactant, pulmonary-associated protein B"""	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.517C>T	2.37:g.85892794G>A			85746305	NM_198843	Q96R04	Silent	SNP	ENST00000519937.2	37		.	.	.	.	.	.	.	.	.	.	g	3.415	-0.119400	0.06838	.	.	ENSG00000168878	ENST00000428225	.	.	.	4.84	1.54	0.23209	.	.	.	.	.	T	0.25865	0.0630	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20371	-1.0277	4	.	.	.	0.2714	5.4179	0.16384	0.1171:0.4097:0.4732:0.0	.	.	.	.	V	169	.	.	A	-	2	0	SFTPB	85746305	0.143000	0.22626	0.045000	0.18777	0.002000	0.02628	1.073000	0.30691	1.020000	0.39573	-0.313000	0.08912	GCT		0.672	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3	NM_198843	
POLR1A	25885	broad.mit.edu	37	2	86269132	86269132	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:86269132C>T	ENST00000263857.6	-	24	3830	c.3452G>A	c.(3451-3453)cGt>cAt	p.R1151H	POLR1A_ENST00000409681.1_Missense_Mutation_p.R1151H			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1151					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.R1151H(2)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GATGTCAGGACGCCAGACAGA	0.473																																					p.R1151H												.	.	2	Substitution - Missense(2)	large_intestine(1)|NS(1)	c.G3452A	2						.						207.0	200.0	203.0					2																	86269132		1940	4147	6087	86122643	SO:0001583	missense	25885	exon24			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.3452G>A	2.37:g.86269132C>T	ENSP00000263857:p.Arg1151His		86122643	NM_015425	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964980	0.74131	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.68181	-0.31;-0.31	5.28	5.28	0.74379	RNA polymerase Rpb1, domain 5 (1);	0.054280	0.64402	D	0.000001	T	0.78886	0.4354	L	0.49350	1.555	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.85130	0.991;0.997	T	0.78922	-0.2013	10	0.51188	T	0.08	-22.5714	18.8998	0.92437	0.0:1.0:0.0:0.0	.	517;1151	B7Z8X7;O95602	.;RPA1_HUMAN	H	1151	ENSP00000263857:R1151H;ENSP00000386300:R1151H	ENSP00000263857:R1151H	R	-	2	0	POLR1A	86122643	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.257000	0.58816	2.486000	0.83907	0.655000	0.94253	CGT		0.473	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425	
KDM3A	55818	broad.mit.edu	37	2	86676998	86676998	+	Silent	SNP	G	G	A	rs369893289		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:86676998G>A	ENST00000409556.1	+	4	620	c.255G>A	c.(253-255)agG>agA	p.R85R	KDM3A_ENST00000542128.1_Intron|KDM3A_ENST00000409064.1_Silent_p.R85R|KDM3A_ENST00000312912.5_Silent_p.R85R			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	85					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R85R(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GCCTTCTAAGGAGAGCATTTT	0.413																																					p.R85R	NSCLC(96;1150 1523 6936 46253 49736)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G255A	2						.	G	,	0,4406		0,0,2203	121.0	127.0	125.0		255,255	2.2	1.0	2		125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KDM3A	NM_001146688.1,NM_018433.5	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	85/1322,85/1322	86676998	1,13005	2203	4300	6503	86530509	SO:0001819	synonymous_variant	55818	exon3			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.255G>A	2.37:g.86676998G>A			86530509	NM_001146688	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Silent	SNP	ENST00000409556.1	37	CCDS1990.1																																																																																				0.413	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433	
RPIA	22934	broad.mit.edu	37	2	89036160	89036160	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:89036160C>T	ENST00000283646.4	+	7	760	c.705C>T	c.(703-705)ggC>ggT	p.G235G		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	235					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)	p.G235G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				AGTTTGGGGGCGTGGTTGAAC	0.582																																					p.G235G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C705T	2						.						140.0	153.0	149.0					2																	89036160		2008	4180	6188	88817275	SO:0001819	synonymous_variant	22934	exon7			L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"""ribose 5-phosphate epimerase"""	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.705C>T	2.37:g.89036160C>T			88817275	NM_144563	Q541P9|Q96BJ6	Silent	SNP	ENST00000283646.4	37	CCDS2004.2																																																																																				0.582	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2		
UNC50	25972	broad.mit.edu	37	2	99227329	99227329	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:99227329C>T	ENST00000357765.2	+	3	524	c.372C>T	c.(370-372)ggC>ggT	p.G124G	COA5_ENST00000483527.1_5'Flank|UNC50_ENST00000409347.1_Silent_p.G141G|UNC50_ENST00000409975.1_Silent_p.G141G|COA5_ENST00000409997.1_5'Flank|COA5_ENST00000328709.3_5'Flank	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	124					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)	p.G124G(1)		breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						ATTGTGTAGGCGTTGGTCTTC	0.393																																					p.G124G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C372T	2						.						378.0	357.0	364.0					2																	99227329		2203	4300	6503	98593761	SO:0001819	synonymous_variant	25972	exon3				CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.372C>T	2.37:g.99227329C>T			98593761	NM_014044	D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Silent	SNP	ENST00000357765.2	37	CCDS2035.1																																																																																				0.393	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	NM_014044	
EIF5B	9669	broad.mit.edu	37	2	100007106	100007106	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:100007106C>T	ENST00000289371.6	+	17	2888	c.2686C>T	c.(2686-2688)Ccc>Tcc	p.P896S		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	896					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.P896S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGTAGAAGGGCCCATTGTAAC	0.493																																					p.P896S	Colon(162;2388 2567 2705 3444)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2686T	2						.						154.0	147.0	149.0					2																	100007106		1996	4169	6165	99373538	SO:0001583	missense	9669	exon17			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.2686C>T	2.37:g.100007106C>T	ENSP00000289371:p.Pro896Ser		99373538	NM_015904	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345770	0.95807	.	.	ENSG00000158417	ENST00000289371	T	0.65364	-0.15	5.53	5.53	0.82687	Translation elongation factor EFTu/EF1A, domain 2 (1);	.	.	.	.	D	0.84633	0.5515	M	0.92077	3.27	0.80722	D	1	D	0.65815	0.995	D	0.72625	0.978	D	0.87388	0.2361	8	.	.	.	-7.3228	19.8113	0.96547	0.0:1.0:0.0:0.0	.	896	O60841	IF2P_HUMAN	S	896	ENSP00000289371:P896S	.	P	+	1	0	EIF5B	99373538	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.688000	0.84153	2.746000	0.94184	0.561000	0.74099	CCC		0.493	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904	
LIMS2	55679	broad.mit.edu	37	2	128398504	128398506	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	CTT	CTT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:128398504_128398506delCTT	ENST00000355119.4	-	7	883_885	c.718_720delAAG	c.(718-720)aagdel	p.K240del	LIMS2_ENST00000409254.1_In_Frame_Del_p.K88del|LIMS2_ENST00000324938.5_In_Frame_Del_p.K264del|LIMS2_ENST00000409808.2_In_Frame_Del_p.K235del|LIMS2_ENST00000410011.1_In_Frame_Del_p.K235del|LIMS2_ENST00000494613.1_5'Flank|LIMS2_ENST00000545738.2_In_Frame_Del_p.K262del|LIMS2_ENST00000409455.1_In_Frame_Del_p.K235del|LIMS2_ENST00000409754.1_In_Frame_Del_p.K88del|LIMS2_ENST00000409286.1_In_Frame_Del_p.K88del|LIMS2_ENST00000410038.1_In_Frame_Del_p.K88del	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	240	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.K264delK(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		AGGCCAGGCCCTTCTTCTCATAG	0.621																																					p.262_262del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.784_786del	2						.																																			128114976	SO:0001651	inframe_deletion	55679	exon8			AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.718_720delAAG	2.37:g.128398507_128398509delCTT	ENSP00000347240:p.Lys240del		128114974	NM_001136037	A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	In_Frame_Del	DEL	ENST00000355119.4	37	CCDS54395.1																																																																																				0.621	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2	NM_017980	
CD302	9936	broad.mit.edu	37	2	160628452	160628453	+	Frame_Shift_Del	DEL	TG	TG	-	rs146382655|rs558991504	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	TG	TG	TG	-	TG	TG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:160628452_160628453delTG	ENST00000259053.4	-	6	651_652	c.608_609delCA	c.(607-609)acafs	p.T203fs	CD302_ENST00000429078.2_Frame_Shift_Del_p.T145fs|LY75-CD302_ENST00000505052.1_Frame_Shift_Del_p.T1788fs|LY75-CD302_ENST00000504764.1_Frame_Shift_Del_p.T1844fs|LY75_ENST00000554112.1_Frame_Shift_Del_p.T1844fs|CD302_ENST00000480212.1_5'UTR|LY75_ENST00000553424.1_Frame_Shift_Del_p.T1788fs	NM_001198764.1|NM_014880.4	NP_001185693.1|NP_055695.2	Q8IX05	CD302_HUMAN	CD302 molecule	203					phagocytosis (GO:0006909)	cell cortex (GO:0005938)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.T203fs*11(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TTGAAAAAACTGTGGTGAAACG	0.361														9	0.00179712	0.0068	0.0	5008	,	,		18700	0.0		0.0	False		,,,				2504	0.0				p.1788_1788del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.5363_5364del	2						.		,,,,	21,4245		2,17,2114					,,,,	2.1	1.0			109	13,8241		6,1,4120	no	frameshift,frameshift,frameshift,frameshift,frameshift	CD302,LY75-CD302	NM_014880.4,NM_001198764.1,NM_001198763.1,NM_001198760.1,NM_001198759.1	,,,,	8,18,6234	A1A1,A1R,RR		0.1575,0.4923,0.2716	,,,,	,,,,		34,12486				160336699	SO:0001589	frameshift_variant	4065	exon38			AY314007	CCDS33308.1, CCDS56139.1, CCDS74595.1	2q24.2	2011-08-30	2006-03-28		ENSG00000241399	ENSG00000241399		"""CD molecules"", ""C-type lectin domain containing"""	30843	protein-coding gene	gene with protein product	"""C-type lectin domain family 13, member A"""	612246	"""CD302 antigen"""			7584026, 7584028	Standard	NM_014880		Approved	DCL-1, KIAA0022, BIMLEC, CLEC13A		Q8IX05	OTTHUMG00000154080	ENST00000259053.4:c.608_609delCA	2.37:g.160628454_160628455delTG	ENSP00000259053:p.Thr203fs		160336698	NM_001198760	A8K5G4|B4E2T9|Q15009	Frame_Shift_Del	DEL	ENST00000259053.4	37	CCDS33308.1																																																																																				0.361	CD302-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333760.1	NM_014880	
SCN3A	6328	broad.mit.edu	37	2	165953817	165953817	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:165953817delT	ENST00000360093.3	-	23	4675	c.4184delA	c.(4183-4185)aacfs	p.N1395fs	SCN3A_ENST00000283254.7_Frame_Shift_Del_p.N1395fs|SCN3A_ENST00000409101.3_Frame_Shift_Del_p.N1346fs	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1395					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.N1395fs*2(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TACTTTCACGTTTTTCCACCG	0.403																																					p.N1395fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.4184delA	2						.						113.0	96.0	102.0					2																	165953817		2203	4300	6503	165662063	SO:0001589	frameshift_variant	6328	exon23			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4184delA	2.37:g.165953817delT	ENSP00000353206:p.Asn1395fs		165662063	NM_006922	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Frame_Shift_Del	DEL	ENST00000360093.3	37																																																																																					0.403	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
TTN	7273	broad.mit.edu	37	2	179615048	179615048	+	Intron	DEL	T	T	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:179615048delT	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Frame_Shift_Del_p.T4028fs|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T4027fs*7(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACTGGTTGTTTTTACTGTT	0.343																																					p.T4027fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.12079delA	2						.						202.0	180.0	187.0					2																	179615048		2203	4300	6503	179323293	SO:0001627	intron_variant	7273	exon46			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2802A>-	2.37:g.179615048delT			179323293	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37																																																																																					0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
DNER	92737	broad.mit.edu	37	2	230272054	230272055	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	GT	GT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:230272054_230272055delGT	ENST00000341772.4	-	10	1750_1751	c.1616_1617delAC	c.(1615-1617)cacfs	p.H539fs		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	539	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.H539fs*2(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ACAATTCACAGTGTGTTCCTGC	0.545																																					p.539_539del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1616_1617del	2						.																																			229980299	SO:0001589	frameshift_variant	92737	exon10			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1616_1617delAC	2.37:g.230272058_230272059delGT	ENSP00000345229:p.His539fs		229980298	NM_139072	A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Frame_Shift_Del	DEL	ENST00000341772.4	37	CCDS33390.1																																																																																				0.545	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072	
FARP2	9855	broad.mit.edu	37	2	242346972	242346972	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr2:242346972C>T	ENST00000264042.3	+	5	522	c.352C>T	c.(352-354)Cgc>Tgc	p.R118C	FARP2_ENST00000545004.1_Missense_Mutation_p.R118C|FARP2_ENST00000373287.4_Missense_Mutation_p.R118C	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	118	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R118C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TGTGGTGCTTCGCCTAGCTGT	0.368																																					p.R118C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C352T	2						.						132.0	130.0	130.0					2																	242346972		2203	4300	6503	241995645	SO:0001583	missense	9855	exon5			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.352C>T	2.37:g.242346972C>T	ENSP00000264042:p.Arg118Cys		241995645	NM_014808	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.567899	0.65651	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000418082	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.64	5.64	0.86602	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.200896	0.42420	D	0.000707	D	0.85890	0.5802	L	0.53561	1.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.988;0.99;0.987	D	0.86593	0.1861	10	0.72032	D	0.01	.	17.4797	0.87669	0.0:1.0:0.0:0.0	.	118;118;118	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	C	118	ENSP00000264042:R118C;ENSP00000443876:R118C;ENSP00000362384:R118C;ENSP00000393376:R118C	ENSP00000264042:R118C	R	+	1	0	FARP2	241995645	1.000000	0.71417	0.989000	0.46669	0.269000	0.26545	2.606000	0.46291	2.652000	0.90054	0.591000	0.81541	CGC		0.368	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1		
SLC6A11	6538	broad.mit.edu	37	3	10953798	10953798	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:10953798G>T	ENST00000254488.2	+	7	981	c.915G>T	c.(913-915)caG>caT	p.Q305H		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	305					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)	p.Q305H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	CTGGAACGCAGATCTTTTTCT	0.488																																					p.Q305H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G915T	3						.						197.0	193.0	194.0					3																	10953798		2203	4300	6503	10928798	SO:0001583	missense	6538	exon7			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.915G>T	3.37:g.10953798G>T	ENSP00000254488:p.Gln305His		10928798	NM_014229	B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555692	0.65425	.	.	ENSG00000132164	ENST00000254488	D	0.82167	-1.58	4.78	3.91	0.45181	.	0.000000	0.85682	D	0.000000	D	0.94275	0.8161	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95328	0.8427	10	0.87932	D	0	.	12.7683	0.57405	0.08:0.0:0.92:0.0	.	305	P48066	S6A11_HUMAN	H	305	ENSP00000254488:Q305H	ENSP00000254488:Q305H	Q	+	3	2	SLC6A11	10928798	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.510000	0.35790	1.001000	0.39076	0.462000	0.41574	CAG		0.488	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229	
CD47	961	broad.mit.edu	37	3	107768491	107768491	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:107768491T>G	ENST00000361309.5	-	10	1047	c.942A>C	c.(940-942)aaA>aaC	p.K314N	CD47_ENST00000355354.7_Intron|CD47_ENST00000471694.1_Intron	NM_001777.3	NP_001768.1	Q08722	CD47_HUMAN	CD47 molecule	314					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|opsonization (GO:0008228)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of inflammatory response (GO:0050729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T cell activation (GO:0050870)|response to bacterium (GO:0009617)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)	p.K314N(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			CTTTTGATTCTTTGAATGCTA	0.303																																					p.K314N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A942C	3						.						126.0	114.0	118.0					3																	107768491		1828	4087	5915	109251181	SO:0001583	missense	961	exon10				CCDS43125.1, CCDS43126.1	3q13.1-q13.2	2013-01-11	2006-03-28		ENSG00000196776	ENSG00000196776		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1682	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibody 1D8"", ""antigenic surface determinant protein OA3"", ""integrin associated protein"", ""Rh-related antigen"", ""leukocyte surface antigen CD47"", ""CD47 glycoprotein"""	601028	"""CD47 antigen (Rh-related antigen, integrin-associated signal transducer)"""	MER6		8294396, 2277087	Standard	XM_005247908		Approved	IAP, OA3	uc003dwt.1	Q08722	OTTHUMG00000044216	ENST00000361309.5:c.942A>C	3.37:g.107768491T>G	ENSP00000355361:p.Lys314Asn		109251181	NM_001777	A8K198|D3DN59|Q53Y71|Q96A60	Missense_Mutation	SNP	ENST00000361309.5	37	CCDS43126.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.03|12.03	1.815832|1.815832	0.32145|0.32145	.|.	.|.	ENSG00000196776|ENSG00000196776	ENST00000361309|ENST00000398258	.|.	.|.	.|.	5.75|5.75	4.59|4.59	0.56863|0.56863	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000017|0.000017	T|T	0.44498|0.44498	0.1296|0.1296	L|L	0.51422|0.51422	1.61|1.61	0.28101|0.28101	N|N	0.931427|0.931427	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.45190|0.45190	-0.9278|-0.9278	9|7	0.87932|0.87932	D|D	0|0	.|.	8.7648|8.7648	0.34696|0.34696	0.0:0.0858:0.0:0.9142|0.0:0.0858:0.0:0.9142	.|.	314|.	Q08722|.	CD47_HUMAN|.	N|T	314|77	.|.	ENSP00000355361:K314N|ENSP00000381309:K77T	K|K	-|-	3|2	2|0	CD47|CD47	109251181|109251181	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.252000|2.252000	0.43196|0.43196	0.997000|0.997000	0.38969|0.38969	0.533000|0.533000	0.62120|0.62120	AAA|AAG		0.303	CD47-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000102793.1	NM_001777	
CCDC80	151887	broad.mit.edu	37	3	112357963	112357963	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:112357963C>T	ENST00000206423.3	-	2	1743	c.790G>A	c.(790-792)Ggc>Agc	p.G264S	CCDC80_ENST00000439685.2_Missense_Mutation_p.G264S|CCDC80_ENST00000475181.1_5'Flank	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	264					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.G264S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CGGATGGGGCCTTGGTCGATG	0.577																																					p.G264S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G790A	3						.						151.0	132.0	139.0					3																	112357963		2203	4300	6503	113840653	SO:0001583	missense	151887	exon2			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.790G>A	3.37:g.112357963C>T	ENSP00000206423:p.Gly264Ser		113840653	NM_199511	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015540	0.35511	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	T;T	0.40476	1.03;1.03	5.27	3.49	0.39957	.	0.480331	0.24321	N	0.039549	T	0.14485	0.0350	N	0.02011	-0.69	0.80722	D	1	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.16722	0.007;0.016;0.011	T	0.06409	-1.0828	10	0.09590	T	0.72	-12.5257	6.6351	0.22879	0.0:0.5954:0.0:0.4046	.	275;264;264	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	S	264	ENSP00000206423:G264S;ENSP00000411814:G264S	ENSP00000206423:G264S	G	-	1	0	CCDC80	113840653	1.000000	0.71417	0.992000	0.48379	0.812000	0.45895	2.695000	0.47043	0.615000	0.30124	0.555000	0.69702	GGC		0.577	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511	
CCDC80	151887	broad.mit.edu	37	3	112358362	112358362	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:112358362G>A	ENST00000206423.3	-	2	1344	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	CCDC80_ENST00000439685.2_Missense_Mutation_p.R131C|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	131					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.R131C(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GAAGGGAAACGCAACATTCTT	0.582																																					p.R131C												.	.	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)	c.C391T	3						.						95.0	89.0	91.0					3																	112358362		2203	4300	6503	113841052	SO:0001583	missense	151887	exon2			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.391C>T	3.37:g.112358362G>A	ENSP00000206423:p.Arg131Cys		113841052	NM_199511	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718385	0.89205	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	T;T	0.65549	-0.16;-0.16	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.73241	0.3562	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.74469	-0.3655	10	0.72032	D	0.01	-14.4307	20.2227	0.98327	0.0:0.0:1.0:0.0	.	142;131;131	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	C	131	ENSP00000206423:R131C;ENSP00000411814:R131C	ENSP00000206423:R131C	R	-	1	0	CCDC80	113841052	1.000000	0.71417	0.901000	0.35422	0.892000	0.51952	9.207000	0.95064	2.778000	0.95560	0.650000	0.86243	CGT		0.582	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511	
SIDT1	54847	broad.mit.edu	37	3	113323794	113323794	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:113323794G>A	ENST00000264852.4	+	14	2101	c.1375G>A	c.(1375-1377)Gtg>Atg	p.V459M	SIDT1_ENST00000393830.3_Missense_Mutation_p.V459M|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	459					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)	p.V459M(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CGCGCTGCCCGTGATCCAGCT	0.493																																					p.V459M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1375A	3						.						126.0	117.0	120.0					3																	113323794		2203	4300	6503	114806484	SO:0001583	missense	54847	exon14			AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1375G>A	3.37:g.113323794G>A	ENSP00000264852:p.Val459Met		114806484	NM_017699	Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925834	0.73213	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.42900	0.96;0.96	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000018	T	0.71837	0.3387	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.75269	-0.3377	10	0.72032	D	0.01	-17.0728	20.2441	0.98394	0.0:0.0:1.0:0.0	.	459;459	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	M	459	ENSP00000264852:V459M;ENSP00000377416:V459M	ENSP00000264852:V459M	V	+	1	0	SIDT1	114806484	1.000000	0.71417	0.999000	0.59377	0.037000	0.13140	9.697000	0.98697	2.774000	0.95407	0.655000	0.94253	GTG		0.493	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699	
ZBTB20	26137	broad.mit.edu	37	3	114070445	114070445	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:114070445G>A	ENST00000474710.1	-	4	658	c.480C>T	c.(478-480)agC>agT	p.S160S	ZBTB20_ENST00000462705.1_Silent_p.S87S|ZBTB20_ENST00000464560.1_Silent_p.S87S|ZBTB20_ENST00000471418.1_Silent_p.S87S|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000481632.1_Silent_p.S87S|ZBTB20_ENST00000357258.3_Silent_p.S87S|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000393785.2_Silent_p.S87S|ZBTB20-AS1_ENST00000475939.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	160	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.S87S(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTAGCACGCCGCTGTACATGA	0.567																																					p.S87S	NSCLC(69;748 1344 9802 11203 30933)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C261T	3						.						85.0	72.0	77.0					3																	114070445		2203	4300	6503	115553135	SO:0001819	synonymous_variant	26137	exon11			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.480C>T	3.37:g.114070445G>A			115553135	NM_001164343	Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	CCDS54626.1																																																																																				0.567	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642	
ILDR1	286676	broad.mit.edu	37	3	121725968	121725968	+	Silent	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:121725968G>T	ENST00000344209.5	-	2	225	c.99C>A	c.(97-99)cgC>cgA	p.R33R	ILDR1_ENST00000273691.3_Silent_p.R33R|ILDR1_ENST00000462014.1_Silent_p.R45R|ILDR1_ENST00000393631.1_Silent_p.R33R|ILDR1_ENST00000460554.1_5'UTR	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	33	Ig-like V-type.				positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)	p.R33R(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GGGTGACATAGCGTTCTGTGT	0.522																																					p.R33R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C99A	3						.						201.0	151.0	168.0					3																	121725968		2203	4300	6503	123208658	SO:0001819	synonymous_variant	286676	exon2			BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.99C>A	3.37:g.121725968G>T			123208658	NM_175924	Q6ZP61|Q7Z578	Silent	SNP	ENST00000344209.5	37	CCDS56271.1																																																																																				0.522	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924	
CASR	846	broad.mit.edu	37	3	122002574	122002574	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:122002574C>T	ENST00000490131.1	+	7	2145	c.1773C>T	c.(1771-1773)tcC>tcT	p.S591S	CASR_ENST00000296154.5_Silent_p.S591S|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Silent_p.S601S	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	591					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.S591S(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACTTCTGGTCCAATGAGAACC	0.507																																					p.S591S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1773T	3						.						124.0	106.0	112.0					3																	122002574		2203	4300	6503	123485264	SO:0001819	synonymous_variant	846	exon7			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1773C>T	3.37:g.122002574C>T			123485264	NM_000388	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	CCDS3010.1																																																																																				0.507	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388	
ADCY5	111	broad.mit.edu	37	3	123010115	123010115	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:123010115G>A	ENST00000462833.1	-	18	4384	c.3172C>T	c.(3172-3174)Cgc>Tgc	p.R1058C	ADCY5_ENST00000309879.5_Missense_Mutation_p.R708C|ADCY5_ENST00000491190.1_Missense_Mutation_p.R716C	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1058					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.R1058C(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCATCATTGCGCCGCTCGCGG	0.597																																					p.R1058C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3172T	3						.						91.0	76.0	81.0					3																	123010115		2203	4300	6503	124492805	SO:0001583	missense	111	exon18			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3172C>T	3.37:g.123010115G>A	ENSP00000419361:p.Arg1058Cys		124492805	NM_183357	B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003204	0.74932	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;D;D	0.82433	-1.2;-1.57;-1.61	4.53	4.53	0.55603	Adenylyl cyclase class-3/4/guanylyl cyclase (2);	0.000000	0.85682	D	0.000000	D	0.89825	0.6827	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.65010	0.856;0.931	D	0.90487	0.4464	10	0.59425	D	0.04	.	11.5455	0.50690	0.0:0.0:0.6924:0.3076	.	1058;716	O95622;B3KWA8	ADCY5_HUMAN;.	C	1058;716;708	ENSP00000419361:R1058C;ENSP00000418537:R716C;ENSP00000308685:R708C	ENSP00000308685:R708C	R	-	1	0	ADCY5	124492805	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.438000	0.59961	2.362000	0.80069	0.563000	0.77884	CGC		0.597	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048	
KALRN	8997	broad.mit.edu	37	3	124048822	124048822	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:124048822A>G	ENST00000240874.3	+	8	1550	c.1393A>G	c.(1393-1395)Acc>Gcc	p.T465A	KALRN_ENST00000360013.3_Missense_Mutation_p.T465A|KALRN_ENST00000460856.1_Missense_Mutation_p.T465A	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	465					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T465A(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGAGCAGGTGACCCAAGCCTA	0.572																																					p.T465A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1393G	3						.						146.0	122.0	130.0					3																	124048822		2203	4300	6503	125531512	SO:0001583	missense	8997	exon8			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1393A>G	3.37:g.124048822A>G	ENSP00000240874:p.Thr465Ala		125531512	NM_003947	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.05|13.05	2.120587|2.120587	0.37436|0.37436	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.41065|.	1.01;1.01;1.01|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.70954|.	0.3283|.	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	B;B;B|.	0.27351|.	0.046;0.176;0.077|.	B;B;B|.	0.26969|.	0.034;0.039;0.075|.	T|.	0.70403|.	-0.4881|.	10|.	0.08837|.	T|.	0.75|.	.|.	15.1541|15.1541	0.72726|0.72726	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	465;465;465|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	A|W	465|442	ENSP00000418611:T465A;ENSP00000240874:T465A;ENSP00000353109:T465A|.	ENSP00000240874:T465A|.	T|X	+|+	1|3	0|0	KALRN|KALRN	125531512|125531512	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.335000|7.335000	0.79234|0.79234	2.225000|2.225000	0.72522|0.72522	0.533000|0.533000	0.62120|0.62120	ACC|TGA		0.572	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	
PODXL2	50512	broad.mit.edu	37	3	127358286	127358286	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:127358286G>A	ENST00000342480.6	+	2	308	c.269G>A	c.(268-270)cGg>cAg	p.R90Q		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	90					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)	p.R90Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GAAGAGTCTCGGATTCTGCAG	0.582																																					p.R90Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G269A	3						.						55.0	62.0	60.0					3																	127358286		2203	4300	6503	128840976	SO:0001583	missense	50512	exon2			AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.269G>A	3.37:g.127358286G>A	ENSP00000345359:p.Arg90Gln		128840976	NM_015720	Q6UVY4|Q8WUV6	Missense_Mutation	SNP	ENST00000342480.6	37	CCDS3044.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077798	0.76528	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	T	0.37752	1.18	6.07	4.29	0.51040	.	0.330770	0.26140	N	0.026108	T	0.23094	0.0558	L	0.32530	0.975	0.24330	N	0.995003	P	0.48640	0.913	B	0.38954	0.286	T	0.20907	-1.0261	10	0.59425	D	0.04	-15.2782	4.8766	0.13658	0.2766:0.1534:0.5699:0.0	.	90	Q9NZ53	PDXL2_HUMAN	Q	90	ENSP00000345359:R90Q	ENSP00000304498:R90Q	R	+	2	0	PODXL2	128840976	1.000000	0.71417	0.985000	0.45067	0.974000	0.67602	1.125000	0.31332	0.905000	0.36596	0.585000	0.79938	CGG		0.582	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720	
PODXL2	50512	broad.mit.edu	37	3	127379500	127379500	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:127379500G>C	ENST00000342480.6	+	3	668	c.629G>C	c.(628-630)aGc>aCc	p.S210T		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	210					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)	p.S210T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						TCTCTCACCAGCAGCAGCCAG	0.592																																					p.S210T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G629C	3						.						88.0	99.0	95.0					3																	127379500		2203	4300	6503	128862190	SO:0001583	missense	50512	exon3			AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.629G>C	3.37:g.127379500G>C	ENSP00000345359:p.Ser210Thr		128862190	NM_015720	Q6UVY4|Q8WUV6	Missense_Mutation	SNP	ENST00000342480.6	37	CCDS3044.1	.	.	.	.	.	.	.	.	.	.	G	2.261	-0.369300	0.05069	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	T	0.22945	1.93	4.67	1.6	0.23607	.	0.833715	0.10885	N	0.623327	T	0.12646	0.0307	N	0.19112	0.55	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.34825	-0.9813	10	0.16420	T	0.52	-2.0614	3.1141	0.06369	0.0982:0.2722:0.4687:0.1609	.	210	Q9NZ53	PDXL2_HUMAN	T	210	ENSP00000345359:S210T	ENSP00000304498:S210T	S	+	2	0	PODXL2	128862190	0.874000	0.30092	0.446000	0.26920	0.548000	0.35241	2.102000	0.41796	0.493000	0.27837	0.491000	0.48974	AGC		0.592	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720	
RUVBL1	8607	broad.mit.edu	37	3	127820454	127820454	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:127820454C>T	ENST00000322623.5	-	5	650	c.551G>A	c.(550-552)cGa>cAa	p.R184Q	RUVBL1_ENST00000417360.1_Missense_Mutation_p.R184Q|RUVBL1_ENST00000464873.1_Missense_Mutation_p.R124Q	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	184					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)	p.R184Q(1)|p.R184L(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		AGCTTCTACTCGCTCTTTCTG	0.413																																					p.R184Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G551A	3						.						235.0	230.0	232.0					3																	127820454		2203	4300	6503	129303144	SO:0001583	missense	8607	exon5			AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.551G>A	3.37:g.127820454C>T	ENSP00000318297:p.Arg184Gln		129303144	NM_003707	B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Missense_Mutation	SNP	ENST00000322623.5	37	CCDS3047.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125948	0.77436	.	.	ENSG00000175792	ENST00000464873;ENST00000322623;ENST00000417360	T;T;T	0.64438	-0.08;-0.1;0.32	5.58	5.58	0.84498	TIP49, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.62073	0.2398	L	0.55481	1.735	0.80722	D	1	B;B;B	0.22276	0.055;0.067;0.012	B;B;B	0.19391	0.015;0.025;0.015	T	0.60141	-0.7321	10	0.66056	D	0.02	-7.6401	19.5682	0.95404	0.0:1.0:0.0:0.0	.	184;184;124	Q9Y265-2;Q9Y265;E7ETR0	.;RUVB1_HUMAN;.	Q	124;184;184	ENSP00000420738:R124Q;ENSP00000318297:R184Q;ENSP00000393755:R184Q	ENSP00000318297:R184Q	R	-	2	0	RUVBL1	129303144	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.939000	0.63526	2.628000	0.89032	0.591000	0.81541	CGA		0.413	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356728.2		
RHO	6010	broad.mit.edu	37	3	129251142	129251142	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:129251142G>A	ENST00000296271.3	+	3	673	c.579G>A	c.(577-579)acG>acA	p.T193T		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	193					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)	p.T193T(2)		breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	ACTACTACACGCTCAAGCCGG	0.547																																					p.T193T	Esophageal Squamous(118;214 1623 30842 43234 46940)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G579A	3						.						275.0	217.0	236.0					3																	129251142		2203	4300	6503	130733832	SO:0001819	synonymous_variant	6010	exon3			AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"""GPCR / Class A : Opsin receptors"""	10012	protein-coding gene	gene with protein product	"""opsin 2, rod pigment"""	180380	"""retinitis pigmentosa 4, autosomal dominant"""	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.579G>A	3.37:g.129251142G>A			130733832	NM_000539	Q16414|Q2M249	Silent	SNP	ENST00000296271.3	37	CCDS3063.1																																																																																				0.547	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356101.1	NM_000539	
COL6A6	131873	broad.mit.edu	37	3	130285704	130285704	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:130285704G>A	ENST00000358511.6	+	4	1472	c.1441G>A	c.(1441-1443)Gct>Act	p.A481T	COL6A6_ENST00000453409.2_Missense_Mutation_p.A481T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	481	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.A481T(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGTTCAGTATGCTGACAGCTG	0.478																																					p.A481T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1441A	3						.						130.0	132.0	132.0					3																	130285704		1925	4114	6039	131768394	SO:0001583	missense	131873	exon4			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1441G>A	3.37:g.130285704G>A	ENSP00000351310:p.Ala481Thr		131768394	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977560	0.74360	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.79454	-1.27;-1.27	5.18	4.22	0.49857	von Willebrand factor, type A (3);	0.104736	0.42682	D	0.000672	T	0.69815	0.3153	N	0.12961	0.28	0.34668	D	0.723419	P	0.46859	0.885	P	0.51324	0.666	T	0.78378	-0.2227	10	0.59425	D	0.04	.	10.3849	0.44134	0.0:0.0:0.5737:0.4263	.	481	A6NMZ7	CO6A6_HUMAN	T	481	ENSP00000351310:A481T;ENSP00000399236:A481T	ENSP00000351310:A481T	A	+	1	0	COL6A6	131768394	0.447000	0.25673	0.979000	0.43373	0.959000	0.62525	2.128000	0.42045	2.412000	0.81896	0.561000	0.74099	GCT		0.478	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
SOX14	8403	broad.mit.edu	37	3	137483813	137483813	+	Missense_Mutation	SNP	C	C	T	rs143465510		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:137483813C>T	ENST00000306087.1	+	1	235	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	63					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R63W(1)		large_intestine(2)|lung(12)	14						TGAAGCCAAGCGGCTACGCGC	0.562																																					p.R63W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C187T	3						.						136.0	135.0	135.0					3																	137483813		2203	4300	6503	138966503	SO:0001583	missense	8403	exon1			AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.187C>T	3.37:g.137483813C>T	ENSP00000305343:p.Arg63Trp		138966503	NM_004189	B2RAC0|Q3KPH7	Missense_Mutation	SNP	ENST00000306087.1	37	CCDS3094.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874735	0.51695	.	.	ENSG00000168875	ENST00000306087	D	0.98120	-4.73	4.98	-1.76	0.08006	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98732	0.9574	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99078	1.0836	10	0.87932	D	0	.	16.5174	0.84304	0.6557:0.3443:0.0:0.0	.	63	O95416	SOX14_HUMAN	W	63	ENSP00000305343:R63W	ENSP00000305343:R63W	R	+	1	2	SOX14	138966503	0.765000	0.28485	0.977000	0.42913	0.956000	0.61745	-0.054000	0.11826	-0.102000	0.12197	-0.428000	0.05917	CGG		0.562	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189	
XPC	7508	broad.mit.edu	37	3	14199886	14199886	+	Silent	SNP	C	C	T	rs150344169	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:14199886C>T	ENST00000285021.7	-	9	1711	c.1497G>A	c.(1495-1497)gcG>gcA	p.A499A	XPC_ENST00000449060.2_Silent_p.A462A	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	499	Interaction with RAD23B.		A -> V (in dbSNP:rs2228000). {ECO:0000269|PubMed:12177305, ECO:0000269|PubMed:8168482, ECO:0000269|Ref.4}.		DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)	p.A499A(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGAGGATGCCGCTGGCAAGC	0.542			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				C|||	9	0.00179712	0.0068	0.0	5008	,	,		20770	0.0		0.0	False		,,,				2504	0.0				p.R463Q		yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""xeroderma pigmentosum, complementation group C"""		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1388A	3						.	C	,	16,3120		0,16,1552	73.0	66.0	68.0		1386,1497	-4.2	0.0	3	dbSNP_134	68	0,7164		0,0,3582	no	coding-synonymous,coding-synonymous	XPC	NM_001145769.1,NM_004628.4	,	0,16,5134	TT,TC,CC		0.0,0.5102,0.1553	,	462/904,499/941	14199886	16,10284	1568	3582	5150	14174888	SO:0001819	synonymous_variant	7508	exon9	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.1497G>A	3.37:g.14199886C>T			14174888	NM_001145769	B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Silent	SNP	ENST00000285021.7	37	CCDS46763.1																																																																																				0.542	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628	
LSM3	27258	broad.mit.edu	37	3	14223156	14223156	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:14223156C>T	ENST00000306024.3	+	2	621	c.118C>T	c.(118-120)Cga>Tga	p.R40*	XPC_ENST00000285021.7_5'Flank	NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN	LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)	40					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R40*(2)		central_nervous_system(1)|large_intestine(2)|ovary(1)	4						CCGAGAGCTTCGAGGCAGATT	0.428																																					p.R40X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C118T	3						.						92.0	97.0	96.0					3																	14223156		2203	4300	6503	14198160	SO:0001587	stop_gained	27258	exon2			AF182289	CCDS2619.1	3p25.1	2012-08-15			ENSG00000170860	ENSG00000170860			17874	protein-coding gene	gene with protein product		607283				10369684	Standard	NM_014463		Approved	YLR438C, SMX4, USS2	uc003byn.3	P62310	OTTHUMG00000129838	ENST00000306024.3:c.118C>T	3.37:g.14223156C>T	ENSP00000302160:p.Arg40*		14198160	NM_014463	Q6IAH0|Q9Y4Z1	Nonsense_Mutation	SNP	ENST00000306024.3	37	CCDS2619.1	.	.	.	.	.	.	.	.	.	.	C	42	9.444847	0.99172	.	.	ENSG00000170860	ENST00000306024	.	.	.	5.5	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9528	14.0025	0.64442	0.2744:0.7256:0.0:0.0	.	.	.	.	X	40	.	ENSP00000302160:R40X	R	+	1	2	LSM3	14198160	0.980000	0.34600	0.997000	0.53966	0.981000	0.71138	2.571000	0.45990	1.285000	0.44548	0.655000	0.94253	CGA		0.428	LSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252078.3	NM_014463	
GRIP2	80852	broad.mit.edu	37	3	14558584	14558584	+	RNA	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:14558584G>A	ENST00000273083.3	-	0	1358							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.H433Y(1)		endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GAGCTCTTGTGTTCCCTTCTT	0.587																																					p.N528N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1584T	3						.						65.0	73.0	70.0					3																	14558584		2092	4214	6306	14533588			80852	exon12			AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14558584G>A			14533588	NM_001080423	Q8TEH9|Q9H7H3	Missense_Mutation	SNP	ENST00000273083.3	37																																																																																					0.587	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423	
ESYT3	83850	broad.mit.edu	37	3	138191502	138191502	+	Missense_Mutation	SNP	G	G	A	rs372599591		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:138191502G>A	ENST00000389567.4	+	18	2224	c.2038G>A	c.(2038-2040)Ggg>Agg	p.G680R		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	680					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.G680R(1)		breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TGAGCCCATCGGGGAGAAGAA	0.597																																					p.G680R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2038A	3						.	G	ARG/GLY	2,4234		0,2,2116	101.0	119.0	113.0		2038	3.2	0.0	3		113	0,8464		0,0,4232	no	missense	ESYT3	NM_031913.3	125	0,2,6348	AA,AG,GG		0.0,0.0472,0.0157	probably-damaging	680/887	138191502	2,12698	2118	4232	6350	139674192	SO:0001583	missense	83850	exon18			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2038G>A	3.37:g.138191502G>A	ENSP00000374218:p.Gly680Arg		139674192	NM_031913	A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661734	0.47572	4.72E-4	0.0	ENSG00000158220	ENST00000389567	T	0.39997	1.05	4.97	3.17	0.36434	.	0.598897	0.14328	N	0.326544	T	0.27594	0.0678	L	0.44542	1.39	0.09310	N	0.999997	P	0.51240	0.943	B	0.38327	0.271	T	0.08330	-1.0727	10	0.15499	T	0.54	-16.8101	6.5793	0.22585	0.2877:0.0:0.7123:0.0	.	680	A0FGR9	ESYT3_HUMAN	R	680	ENSP00000374218:G680R	ENSP00000374218:G680R	G	+	1	0	ESYT3	139674192	0.993000	0.37304	0.005000	0.12908	0.972000	0.66771	2.412000	0.44609	0.685000	0.31468	0.462000	0.41574	GGG		0.597	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913	
AADACL2	344752	broad.mit.edu	37	3	151463407	151463407	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:151463407C>T	ENST00000356517.3	+	4	651	c.542C>T	c.(541-543)aCc>aTc	p.T181I		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	181						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.T159I(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GTGGATCCCACCCGAATCTGC	0.423																																					p.T181I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C542T	3						.						72.0	81.0	78.0					3																	151463407		2203	4299	6502	152946097	SO:0001583	missense	344752	exon4			BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.542C>T	3.37:g.151463407C>T	ENSP00000348911:p.Thr181Ile		152946097	NM_207365	Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	C	7.633	0.679226	0.14907	.	.	ENSG00000197953	ENST00000356517	T	0.59224	0.28	4.71	-1.11	0.09840	Alpha/beta hydrolase fold-3 (1);	0.447742	0.25270	N	0.031884	T	0.59376	0.2189	M	0.82923	2.615	0.09310	N	1	P	0.49090	0.919	P	0.49597	0.616	T	0.53258	-0.8464	10	0.42905	T	0.14	-3.1312	3.9416	0.09329	0.401:0.3082:0.2184:0.0724	.	181	Q6P093	ADCL2_HUMAN	I	181	ENSP00000348911:T181I	ENSP00000348911:T181I	T	+	2	0	AADACL2	152946097	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	0.000000	0.12993	-0.296000	0.08947	-0.182000	0.12963	ACC		0.423	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365	
AADACL2	344752	broad.mit.edu	37	3	151475000	151475000	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:151475000G>T	ENST00000356517.3	+	5	933	c.824G>T	c.(823-825)aGa>aTa	p.R275I	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	275						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.R253I(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTGGAGTCAAGACATCTGTTT	0.393																																					p.R275I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G824T	3						.						120.0	126.0	124.0					3																	151475000		2203	4298	6501	152957690	SO:0001583	missense	344752	exon5			BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.824G>T	3.37:g.151475000G>T	ENSP00000348911:p.Arg275Ile		152957690	NM_207365	Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148581	0.37923	.	.	ENSG00000197953	ENST00000356517	T	0.04603	3.59	4.9	0.94	0.19513	.	0.449495	0.25958	N	0.027205	T	0.05456	0.0144	L	0.50919	1.6	0.09310	N	0.999993	B	0.32467	0.372	B	0.39771	0.309	T	0.31696	-0.9934	10	0.36615	T	0.2	-0.0859	2.3208	0.04211	0.2195:0.1302:0.516:0.1344	.	275	Q6P093	ADCL2_HUMAN	I	275	ENSP00000348911:R275I	ENSP00000348911:R275I	R	+	2	0	AADACL2	152957690	0.008000	0.16893	0.013000	0.15412	0.992000	0.81027	1.652000	0.37313	-0.007000	0.14345	0.591000	0.81541	AGA		0.393	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365	
COLQ	8292	broad.mit.edu	37	3	15497437	15497437	+	Silent	SNP	G	G	A	rs149852377	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:15497437G>A	ENST00000383788.5	-	15	1289	c.1164C>T	c.(1162-1164)gaC>gaT	p.D388D	COLQ_ENST00000383787.2_Silent_p.D379D|COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000435459.2_Silent_p.D378D|COLQ_ENST00000383781.4_Silent_p.D378D|COLQ_ENST00000383786.5_Silent_p.D354D|COLQ_ENST00000603808.1_Silent_p.D388D	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	388					acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.D388D(1)		endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CGCTGTTACCGTCGTCACACT	0.632													g|||	3	0.000599042	0.0008	0.0029	5008	,	,		20236	0.0		0.0	False		,,,				2504	0.0				p.D354D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1062T	3						.	A	,,	0,4406		0,0,2203	100.0	74.0	83.0		1164,1134,1062	-5.2	0.1	3	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	COLQ	NM_005677.3,NM_080538.2,NM_080539.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	388/456,378/446,354/422	15497437	1,13005	2203	4300	6503	15472441	SO:0001819	synonymous_variant	8292	exon14			AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.1164C>T	3.37:g.15497437G>A			15472441	NM_080539	B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Silent	SNP	ENST00000383788.5	37	CCDS33709.1																																																																																				0.632	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343575.1	NM_005677	
P2RY1	5028	broad.mit.edu	37	3	152554162	152554162	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:152554162C>T	ENST00000305097.3	+	1	1427	c.591C>T	c.(589-591)aaC>aaT	p.N197N		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	197					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.N197N(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TCCGCAAAAACAAAACCATCA	0.522																																					p.N197N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C591T	3						.						170.0	152.0	158.0					3																	152554162		2203	4300	6503	154036852	SO:0001819	synonymous_variant	5028	exon1			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.591C>T	3.37:g.152554162C>T			154036852	NM_002563		Silent	SNP	ENST00000305097.3	37	CCDS3169.1																																																																																				0.522	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563	
GPR149	344758	broad.mit.edu	37	3	154056048	154056048	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:154056048C>T	ENST00000389740.2	-	4	1735	c.1636G>A	c.(1636-1638)Gcc>Acc	p.A546T		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	546					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A546T(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ATGGCAAGGGCATAACCGGAA	0.433																																					p.A546T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1636A	3						.						91.0	91.0	91.0					3																	154056048		1883	4104	5987	155538742	SO:0001583	missense	344758	exon4			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1636G>A	3.37:g.154056048C>T	ENSP00000374390:p.Ala546Thr		155538742	NM_001038705		Missense_Mutation	SNP	ENST00000389740.2	37	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256604	0.59321	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.77	3.99	0.46301	.	0.322692	0.32952	N	0.005442	T	0.52661	0.1748	L	0.53249	1.67	0.33811	D	0.62786	B	0.14012	0.009	B	0.15052	0.012	T	0.61357	-0.7079	9	0.87932	D	0	-3.8441	12.1401	0.53993	0.0:0.8622:0.0:0.1378	.	546	Q86SP6	GP149_HUMAN	T	546	.	ENSP00000374390:A546T	A	-	1	0	GPR149	155538742	1.000000	0.71417	0.340000	0.25575	0.894000	0.52154	3.655000	0.54460	0.796000	0.33947	0.655000	0.94253	GCC		0.433	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580	
RSRC1	51319	broad.mit.edu	37	3	157839900	157839900	+	Missense_Mutation	SNP	C	C	T	rs557840086		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:157839900C>T	ENST00000295930.3	+	2	169	c.7C>T	c.(7-9)Cgt>Tgt	p.R3C	RSRC1_ENST00000464171.1_Missense_Mutation_p.R3C|RSRC1_ENST00000312179.6_Missense_Mutation_p.R3C|RSRC1_ENST00000475278.2_Missense_Mutation_p.R3C|RSRC1_ENST00000480820.1_Missense_Mutation_p.R3C	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	3	Arg/Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.R3C(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			AGAAATGGGACGTCGGTCATC	0.333													C|||	1	0.000199681	0.0	0.0	5008	,	,		15387	0.0		0.0	False		,,,				2504	0.001				p.R3C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7T	3						.						54.0	60.0	58.0					3																	157839900		2203	4300	6503	159322594	SO:0001583	missense	51319	exon2			AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.7C>T	3.37:g.157839900C>T	ENSP00000295930:p.Arg3Cys		159322594	NM_016625	A8K2R9|Q96QK2|Q9NZE5	Missense_Mutation	SNP	ENST00000295930.3	37	CCDS3181.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844037	0.51164	.	.	ENSG00000174891	ENST00000480820;ENST00000494002;ENST00000295930;ENST00000471994;ENST00000464171;ENST00000312179;ENST00000475278;ENST00000476899	.	.	.	5.66	5.66	0.87406	.	0.104988	0.64402	N	0.000003	T	0.79644	0.4481	M	0.71036	2.16	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.988;0.994;0.994	T	0.80915	-0.1169	9	0.87932	D	0	.	19.3485	0.94374	0.0:1.0:0.0:0.0	.	3;3;3	B4DTW0;Q96IZ7-2;Q96IZ7	.;.;RSRC1_HUMAN	C	3	.	ENSP00000295930:R3C	R	+	1	0	RSRC1	159322594	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	5.253000	0.65452	2.673000	0.90976	0.650000	0.86243	CGT		0.333	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625	
MLF1	4291	broad.mit.edu	37	3	158322930	158322930	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:158322930C>G	ENST00000355893.5	+	7	884	c.746C>G	c.(745-747)tCa>tGa	p.S249*	MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000484955.1_Nonsense_Mutation_p.S224*|MLF1_ENST00000359117.5_Nonsense_Mutation_p.S224*|MLF1_ENST00000392822.3_Nonsense_Mutation_p.S280*|MLF1_ENST00000482628.1_Nonsense_Mutation_p.S224*|MLF1_ENST00000471745.1_Nonsense_Mutation_p.S239*|MLF1_ENST00000478894.2_Nonsense_Mutation_p.S239*|MLF1_ENST00000469452.1_Nonsense_Mutation_p.S181*	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	249					cell cycle arrest (GO:0007050)|myeloid progenitor cell differentiation (GO:0002318)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)	p.S249*(1)|p.S280*(1)		large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			GGAAGGAGATCAAATGTTTTG	0.328			T	NPM1	AML																																p.S239X			Dom	yes		3	3q25.1	4291	myeloid leukemia factor 1		L	.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C716G	3						.						73.0	77.0	75.0					3																	158322930		2203	4300	6503	159805624	SO:0001587	stop_gained	4291	exon9			L49054	CCDS3182.1, CCDS46945.1, CCDS56286.1, CCDS56287.1, CCDS56288.1	3q25	2008-07-18			ENSG00000178053	ENSG00000178053			7125	protein-coding gene	gene with protein product	"""myeloid leukemia factor 1 variant 1"", ""myeloid leukemia factor 1 variant 2"", ""myeloid leukemia factor 1 variant 3"""	601402				8570204	Standard	NM_022443		Approved		uc003fcb.3	P58340	OTTHUMG00000158775	ENST00000355893.5:c.746C>G	3.37:g.158322930C>G	ENSP00000348157:p.Ser249*		159805624	NM_001195434	E9PEU9|Q2TLE3|Q2TLE5|Q8N8F8|Q96MH1	Nonsense_Mutation	SNP	ENST00000355893.5	37	CCDS3182.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621605	0.46736	.	.	ENSG00000178053	ENST00000491767;ENST00000355893;ENST00000484955;ENST00000359117;ENST00000471745;ENST00000469452;ENST00000482628;ENST00000478894;ENST00000392822	.	.	.	5.47	5.47	0.80525	.	0.416483	0.20681	N	0.087648	.	.	.	.	.	.	0.48341	D	0.999635	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-1.1496	11.8879	0.52613	0.174:0.826:0.0:0.0	.	.	.	.	X	175;249;224;224;239;181;224;239;280	.	ENSP00000348157:S249X	S	+	2	0	MLF1	159805624	0.092000	0.21681	0.503000	0.27626	0.015000	0.08874	1.055000	0.30467	2.569000	0.86673	0.585000	0.79938	TCA		0.328	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352164.3	NM_022443	
SMC4	10051	broad.mit.edu	37	3	160135515	160135515	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:160135515G>A	ENST00000357388.3	+	11	1893	c.1442G>A	c.(1441-1443)cGa>cAa	p.R481Q	SMC4_ENST00000360111.2_Missense_Mutation_p.R481Q|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.R481Q|SMC4_ENST00000462787.1_Missense_Mutation_p.R481Q|SMC4_ENST00000469762.1_Missense_Mutation_p.R456Q	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	481					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.R481Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TAACAGAGTCGAGAGAAAGAA	0.338																																					p.R481Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1442A	3						.						65.0	65.0	65.0					3																	160135515		2203	4300	6503	161618209	SO:0001583	missense	10051	exon11			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1442G>A	3.37:g.160135515G>A	ENSP00000349961:p.Arg481Gln		161618209	NM_001002800	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664438	0.47572	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	5.93	-4.65	0.03339	RecF/RecN/SMC (1);	0.450321	0.25654	N	0.029200	T	0.44561	0.1299	N	0.02539	-0.55	0.28158	N	0.929119	B;B;B;B	0.09022	0.001;0.0;0.002;0.001	B;B;B;B	0.10450	0.002;0.001;0.005;0.003	T	0.36040	-0.9764	10	0.28530	T	0.3	0.1699	7.5476	0.27777	0.6236:0.0:0.1686:0.2078	.	481;456;456;481	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	Q	481;481;456;481;481;75	ENSP00000349961:R481Q;ENSP00000353225:R481Q;ENSP00000417964:R456Q;ENSP00000420734:R481Q;ENSP00000341382:R481Q	ENSP00000341382:R481Q	R	+	2	0	SMC4	161618209	0.998000	0.40836	0.805000	0.32314	0.990000	0.78478	0.548000	0.23314	-0.753000	0.04721	-0.136000	0.14681	CGA		0.338	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1		
KPNA4	3840	broad.mit.edu	37	3	160233272	160233272	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:160233272G>A	ENST00000334256.4	-	12	1305	c.1000C>T	c.(1000-1002)Ctc>Ttc	p.L334F	SCARNA7_ENST00000458797.1_RNA	NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	334	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)	p.L334F(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TGTGTCAGGAGTGCTGGGAAG	0.348																																					p.L334F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1000T	3						.						96.0	84.0	88.0					3																	160233272		2203	4300	6503	161715966	SO:0001583	missense	3840	exon12			AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.1000C>T	3.37:g.160233272G>A	ENSP00000334373:p.Leu334Phe		161715966	NM_002268	A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	ENST00000334256.4	37	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402359	0.83230	.	.	ENSG00000186432	ENST00000334256;ENST00000483437	D;D	0.83673	-1.75;-1.75	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.93048	0.7787	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.94172	0.7424	10	0.87932	D	0	-2.9467	13.1258	0.59354	0.0733:0.0:0.9267:0.0	.	334	O00629	IMA4_HUMAN	F	334;39	ENSP00000334373:L334F;ENSP00000417172:L39F	ENSP00000334373:L334F	L	-	1	0	KPNA4	161715966	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.873000	0.87193	2.773000	0.95371	0.655000	0.94253	CTC		0.348	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268	
RFTN1	23180	broad.mit.edu	37	3	16358512	16358512	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:16358512C>T	ENST00000334133.4	-	10	1832	c.1560G>A	c.(1558-1560)ctG>ctA	p.L520L	OXNAD1_ENST00000605932.1_Intron|OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000435829.2_Intron|RP11-415F23.2_ENST00000607464.1_RNA|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000432519.1_Silent_p.L484L|RFTN1_ENST00000483671.1_5'UTR	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	520					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)	p.L520L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CACCAGGGGACAGCTGTTCTC	0.617																																					p.L520L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1560A	3						.						115.0	103.0	107.0					3																	16358512		2203	4300	6503	16333516	SO:0001819	synonymous_variant	23180	exon10			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.1560G>A	3.37:g.16358512C>T			16333516	NM_015150	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Silent	SNP	ENST00000334133.4	37	CCDS33712.1																																																																																				0.617	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150	
OTOL1	131149	broad.mit.edu	37	3	161214715	161214715	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:161214715G>A	ENST00000327928.4	+	1	120	c.120G>A	c.(118-120)atG>atA	p.M40I		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	40						collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.M40I(1)		central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AAAGAGAGATGCCAAAGGGTC	0.423																																					p.M40I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G120A	3						.						71.0	69.0	70.0					3																	161214715		1862	4096	5958	162697409	SO:0001583	missense	131149	exon1				CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.120G>A	3.37:g.161214715G>A	ENSP00000330808:p.Met40Ile		162697409	NM_001080440		Missense_Mutation	SNP	ENST00000327928.4	37	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	G	0.487	-0.877023	0.02550	.	.	ENSG00000182447	ENST00000327928	D	0.89746	-2.56	5.66	-2.57	0.06248	.	0.834446	0.11395	N	0.568429	T	0.71298	0.3323	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.56312	-0.8000	10	0.22706	T	0.39	.	0.3161	0.00295	0.2338:0.266:0.1878:0.3125	.	40	A6NHN0	OTOL1_HUMAN	I	40	ENSP00000330808:M40I	ENSP00000330808:M40I	M	+	3	0	OTOL1	162697409	0.012000	0.17670	0.000000	0.03702	0.045000	0.14185	0.051000	0.14141	-0.436000	0.07254	-0.188000	0.12872	ATG		0.423	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440	
ZBBX	79740	broad.mit.edu	37	3	167039927	167039927	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:167039927A>T	ENST00000392766.2	-	12	1301	c.961T>A	c.(961-963)Tta>Ata	p.L321I	ZBBX_ENST00000307529.5_Missense_Mutation_p.L321I|ZBBX_ENST00000392767.2_Missense_Mutation_p.L321I|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Missense_Mutation_p.L321I|ZBBX_ENST00000392764.1_Missense_Mutation_p.L292I	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	321						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.L321I(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTAAGCCATAATTTTTCCATA	0.294																																					p.L321I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T961A	3						.						62.0	58.0	59.0					3																	167039927		1785	4035	5820	168522621	SO:0001583	missense	79740	exon12			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.961T>A	3.37:g.167039927A>T	ENSP00000376519:p.Leu321Ile		168522621	NM_024687	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	A	16.61	3.172378	0.57584	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.39229	1.29;1.29;1.27;1.27;1.09	5.76	3.31	0.37934	.	0.154750	0.30134	N	0.010322	T	0.48241	0.1489	M	0.66939	2.045	0.36135	D	0.846373	D;D	0.56521	0.964;0.976	P;P	0.53518	0.728;0.634	T	0.56123	-0.8031	10	0.66056	D	0.02	-4.9488	5.0561	0.14533	0.754:0.0:0.086:0.16	.	321;321	A8MT70-2;A8MT70	.;ZBBX_HUMAN	I	321;321;321;321;292	ENSP00000376519:L321I;ENSP00000376520:L321I;ENSP00000390232:L321I;ENSP00000305065:L321I;ENSP00000376517:L292I	ENSP00000305065:L321I	L	-	1	2	ZBBX	168522621	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	1.733000	0.38156	0.415000	0.25817	0.477000	0.44152	TTA		0.294	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687	
ACTRT3	84517	broad.mit.edu	37	3	169485433	169485433	+	Silent	SNP	A	A	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:169485433A>T	ENST00000330368.2	-	2	1280	c.906T>A	c.(904-906)tcT>tcA	p.S302S	TERC_ENST00000602385.1_lincRNA|RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	302						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)		p.S302S(1)									AACCAGGGAAAGAGGTTGATC	0.443																																					p.S302S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T906A	3						.						117.0	132.0	127.0					3																	169485433		2203	4300	6503	170968127	SO:0001819	synonymous_variant	84517	exon2			AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.906T>A	3.37:g.169485433A>T			170968127	NM_032487	Q96IS0|Q96NJ0	Silent	SNP	ENST00000330368.2	37	CCDS3206.1																																																																																				0.443	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1	NM_032487	
LRRC31	79782	broad.mit.edu	37	3	169574279	169574279	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:169574279G>T	ENST00000316428.5	-	5	725	c.668C>A	c.(667-669)cCt>cAt	p.P223H	LRRC31_ENST00000264676.5_Missense_Mutation_p.P167H|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Missense_Mutation_p.P223H	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	223								p.P223H(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TTGCAGCATAGGTAGCAGTTG	0.428																																					p.P223H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C668A	3						.						82.0	72.0	75.0					3																	169574279		1887	4101	5988	171056973	SO:0001583	missense	79782	exon5			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.668C>A	3.37:g.169574279G>T	ENSP00000325978:p.Pro223His		171056973	NM_024727	B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843323	0.32606	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	T;T;T	0.52983	0.64;0.64;0.64	4.83	1.98	0.26296	.	0.426018	0.25625	N	0.029394	T	0.51432	0.1674	L	0.58669	1.825	0.09310	N	1	D;D	0.69078	0.997;0.997	P;P	0.62813	0.907;0.901	T	0.38866	-0.9641	10	0.44086	T	0.13	-0.3525	1.2358	0.01952	0.2451:0.1254:0.439:0.1905	.	167;223	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	H	223;167;223	ENSP00000325978:P223H;ENSP00000264676:P167H;ENSP00000429145:P223H	ENSP00000264676:P167H	P	-	2	0	LRRC31	171056973	0.009000	0.17119	0.013000	0.15412	0.002000	0.02628	0.329000	0.19698	1.020000	0.39573	0.650000	0.86243	CCT		0.428	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727	
GHSR	2693	broad.mit.edu	37	3	172165374	172165374	+	Intron	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:172165374G>A	ENST00000241256.2	-	1	839				GHSR_ENST00000427970.1_Missense_Mutation_p.A277V	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor						actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.A277V(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GATAGGACCCGCGAGAGAAAG	0.587																																					p.A277V	Esophageal Squamous(93;641 1401 20883 29581 34638)											.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C830T	3						.						80.0	90.0	87.0					3																	172165374		2203	4300	6503	173648068	SO:0001627	intron_variant	2693	exon1			AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.796+33C>T	3.37:g.172165374G>A			173648068	NM_004122	Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	37	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	G	1.673	-0.508581	0.04231	.	.	ENSG00000121853	ENST00000427970	T	0.60920	0.15	5.32	3.13	0.36017	.	.	.	.	.	T	0.27967	0.0689	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28650	-1.0037	8	0.02654	T	1	.	6.1511	0.20313	0.3094:0.0:0.6906:0.0	.	277	Q92847-2	.	V	277	ENSP00000395344:A277V	ENSP00000395344:A277V	A	-	2	0	GHSR	173648068	0.000000	0.05858	0.001000	0.08648	0.057000	0.15508	-0.736000	0.04882	0.354000	0.24105	0.455000	0.32223	GCG		0.587	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122	
TBL1XR1	79718	broad.mit.edu	37	3	176763959	176763959	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:176763959C>T	ENST00000430069.1	-	10	1142	c.883G>A	c.(883-885)Gca>Aca	p.A295T	TBL1XR1-AS1_ENST00000454723.2_RNA|TBL1XR1_ENST00000457928.2_Missense_Mutation_p.A295T			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	295					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.A295T(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			CCAGTATGTGCGTCCCAAATA	0.323																																					p.A295T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G883A	3						.						24.0	23.0	23.0					3																	176763959		1816	4056	5872	178246653	SO:0001583	missense	79718	exon10			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.883G>A	3.37:g.176763959C>T	ENSP00000405574:p.Ala295Thr		178246653	NM_024665	D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	C	32	5.154121	0.94645	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	T;T	0.80994	-1.44;-1.44	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81973	0.4936	L	0.41356	1.27	0.80722	D	1	D	0.60160	0.987	P	0.52514	0.701	T	0.79364	-0.1834	10	0.33141	T	0.24	-6.122	19.3291	0.94278	0.0:1.0:0.0:0.0	.	295	Q9BZK7	TBL1R_HUMAN	T	295;295;157	ENSP00000405574:A295T;ENSP00000413251:A295T	ENSP00000405574:A295T	A	-	1	0	TBL1XR1	178246653	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.429000	0.80309	2.814000	0.96858	0.655000	0.94253	GCA		0.323	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665	
MCCC1	56922	broad.mit.edu	37	3	182755030	182755030	+	Missense_Mutation	SNP	C	C	T	rs200031275		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:182755030C>T	ENST00000265594.4	-	13	1716	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	MCCC1_ENST00000489909.1_5'UTR|MCCC1_ENST00000539926.1_Missense_Mutation_p.D389N|MCCC1_ENST00000492597.1_Missense_Mutation_p.D415N	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	524					biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.D524N(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	GTGAAAGTGTCGGTCATGGCT	0.463													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20912	0.0		0.0	False		,,,				2504	0.0				p.D524N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1570A	3						.						111.0	94.0	100.0					3																	182755030		2203	4300	6503	184237724	SO:0001583	missense	56922	exon13			AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1570G>A	3.37:g.182755030C>T	ENSP00000265594:p.Asp524Asn		184237724	NM_020166	Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	CCDS3241.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	2.098	-0.406701	0.04832	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176	D;D;D;D	0.95412	-3.7;-3.65;-3.52;-3.44	5.93	3.04	0.35103	.	0.454825	0.29246	N	0.012701	D	0.89622	0.6768	L	0.34521	1.04	0.09310	N	1	B;B;B	0.20988	0.03;0.05;0.009	B;B;B	0.09377	0.002;0.003;0.004	T	0.76160	-0.3061	10	0.16420	T	0.52	.	8.8921	0.35441	0.0:0.6992:0.0:0.3008	.	477;415;524	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	N	524;415;374;389;477	ENSP00000265594:D524N;ENSP00000419898:D415N;ENSP00000441253:D389N;ENSP00000420433:D477N	ENSP00000265594:D524N	D	-	1	0	MCCC1	184237724	0.048000	0.20356	0.003000	0.11579	0.057000	0.15508	0.822000	0.27352	0.777000	0.33496	0.561000	0.74099	GAC		0.463	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166	
ECE2	9718	broad.mit.edu	37	3	184008628	184008628	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:184008628C>T	ENST00000402825.3	+	16	2168	c.2168C>T	c.(2167-2169)aCg>aTg	p.T723M	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.T605M|ECE2_ENST00000359140.4_Missense_Mutation_p.T576M|ECE2_ENST00000357474.5_Missense_Mutation_p.T651M	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	723	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.T576M(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CATGAGTTGACGCATGCCTTT	0.582																																					p.T723M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2168T	3						.						112.0	106.0	108.0					3																	184008628		2203	4300	6503	185491322	SO:0001583	missense	9718	exon16			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2168C>T	3.37:g.184008628C>T	ENSP00000384223:p.Thr723Met		185491322	NM_014693	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673337	0.67928	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	5.38	4.5	0.54988	Peptidase M13, neprilysin, C-terminal (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91700	0.7376	M	0.89287	3.02	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0;1.0;1.0	D	0.92686	0.6162	10	0.87932	D	0	-8.0386	12.466	0.55759	0.0:0.9189:0.0:0.0811	.	325;576;594;605;651;576;723	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	M	723;576;605;651;597	ENSP00000384223:T723M;ENSP00000352052:T576M;ENSP00000385846:T605M;ENSP00000350066:T651M;ENSP00000398444:T597M	ENSP00000350066:T651M	T	+	2	0	ECE2	185491322	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	5.776000	0.68924	1.249000	0.43950	0.561000	0.74099	ACG		0.582	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693	
ADIPOQ	9370	broad.mit.edu	37	3	186572213	186572213	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:186572213G>A	ENST00000412955.2	+	3	596	c.455G>A	c.(454-456)tGc>tAc	p.C152Y	ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Missense_Mutation_p.C152Y|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.C152Y			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	152	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				adiponectin-activated signaling pathway (GO:0033211)|brown fat cell differentiation (GO:0050873)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to insulin stimulus (GO:0032869)|circadian rhythm (GO:0007623)|detection of oxidative stress (GO:0070994)|fatty acid beta-oxidation (GO:0006635)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|low-density lipoprotein particle clearance (GO:0034383)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of hormone secretion (GO:0046888)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular protein transport (GO:0090317)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metanephric mesenchymal cell migration (GO:2000590)|negative regulation of phagocytosis (GO:0050765)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of receptor binding (GO:1900121)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of synaptic transmission (GO:0050805)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|positive regulation of blood pressure (GO:0045777)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of metanephric glomerular visceral epithelial cell development (GO:2000478)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myeloid cell apoptotic process (GO:0033034)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal albumin absorption (GO:2000534)|positive regulation of signal transduction (GO:0009967)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|regulation of glucose metabolic process (GO:0010906)|response to activity (GO:0014823)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to linoleic acid (GO:0070543)|response to nutrient (GO:0007584)|response to sucrose (GO:0009744)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|sialic acid binding (GO:0033691)	p.C152Y(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		AAATTCCACTGCAACATTCCT	0.453																																					p.C152Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G455A	3						.						195.0	172.0	180.0					3																	186572213		2203	4300	6503	188054907	SO:0001583	missense	9370	exon3			D45371	CCDS3284.1	3q27	2013-02-26	2005-01-24	2005-01-27	ENSG00000181092	ENSG00000181092		"""Endogenous ligands"""	13633	protein-coding gene	gene with protein product	"""adipose most abundant gene transcript 1"", ""adiponectin precursor"""	605441	"""adipocyte, C1Q and collagen domain containing"""	ACDC		7592907, 8631877	Standard	NM_001177800		Approved	ACRP30, AdipoQ, apM1, GBP28, adiponectin	uc003fra.3	Q15848	OTTHUMG00000156521	ENST00000412955.2:c.455G>A	3.37:g.186572213G>A	ENSP00000405611:p.Cys152Tyr		188054907	NM_004797	Q58EX9	Missense_Mutation	SNP	ENST00000412955.2	37	CCDS3284.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372850	0.82573	.	.	ENSG00000181092	ENST00000412955;ENST00000320741;ENST00000444204	T;T;T	0.79749	-1.3;-1.3;-1.3	5.25	5.25	0.73442	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.92782	0.7705	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94607	0.7801	10	0.87932	D	0	.	16.6983	0.85342	0.0:0.0:1.0:0.0	.	152	Q15848	ADIPO_HUMAN	Y	152	ENSP00000405611:C152Y;ENSP00000320709:C152Y;ENSP00000389814:C152Y	ENSP00000320709:C152Y	C	+	2	0	ADIPOQ	188054907	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.912000	0.87465	2.631000	0.89168	0.561000	0.74099	TGC		0.453	ADIPOQ-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344490.2	NM_004797	
RNF168	165918	broad.mit.edu	37	3	196229864	196229864	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:196229864A>G	ENST00000318037.3	-	1	775	c.181T>C	c.(181-183)Tgg>Cgg	p.W61R		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	61					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.W61R(1)		NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TACCGAGTCCACGACGATACC	0.537																																					p.W61R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T181C	3						.						125.0	103.0	111.0					3																	196229864		2203	4300	6503	197714261	SO:0001583	missense	165918	exon1			AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.181T>C	3.37:g.196229864A>G	ENSP00000320898:p.Trp61Arg		197714261	NM_152617	Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.102903	0.76983	.	.	ENSG00000163961	ENST00000318037	D	0.84660	-1.88	6.0	6.0	0.97389	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.56097	D	0.000021	D	0.91981	0.7460	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91677	0.5355	10	0.45353	T	0.12	-14.3361	16.56	0.84537	1.0:0.0:0.0:0.0	.	61	Q8IYW5	RN168_HUMAN	R	61	ENSP00000320898:W61R	ENSP00000320898:W61R	W	-	1	0	RNF168	197714261	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	7.250000	0.78287	2.313000	0.78055	0.454000	0.30748	TGG		0.537	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617	
SETD5	55209	broad.mit.edu	37	3	9517543	9517543	+	Frame_Shift_Del	DEL	C	C	-	rs536881158		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:9517543delC	ENST00000406341.1	+	22	4287	c.4097delC	c.(4096-4098)acafs	p.T1366fs	SETD5_ENST00000407969.1_Frame_Shift_Del_p.T1385fs|SETD5_ENST00000302463.6_Frame_Shift_Del_p.T1268fs|SETD5_ENST00000402466.1_Frame_Shift_Del_p.T1268fs|SETD5_ENST00000402198.1_Frame_Shift_Del_p.T1366fs			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1366	Ser-rich.							p.T1268fs*4(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CAGTCCAGCACAGGAACTCTG	0.547																																					p.T1366fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.4097delC	3						.						77.0	77.0	77.0					3																	9517543		2131	4235	6366	9492543	SO:0001589	frameshift_variant	55209	exon23			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.4097delC	3.37:g.9517543delC	ENSP00000383939:p.Thr1366fs		9492543	NM_001080517	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Frame_Shift_Del	DEL	ENST00000406341.1	37	CCDS46741.1																																																																																				0.547	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614	
LHFPL4	375323	broad.mit.edu	37	3	9547736	9547736	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:9547736G>A	ENST00000287585.6	-	3	843	c.558C>T	c.(556-558)aaC>aaT	p.N186N		NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	199						integral component of membrane (GO:0016021)		p.N186N(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GGATGAGGGCGTTGAGGATGC	0.612																																					p.N186N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C558T	3						.						162.0	125.0	137.0					3																	9547736		2203	4300	6503	9522736	SO:0001819	synonymous_variant	375323	exon3			AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959			29568	protein-coding gene	gene with protein product		610240				15905332	Standard	NM_198560		Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.558C>T	3.37:g.9547736G>A			9522736	NM_198560	A1L383|A4D0Q5	Silent	SNP	ENST00000287585.6	37	CCDS33691.1																																																																																				0.612	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338298.1	NM_198560	
CRELD1	78987	broad.mit.edu	37	3	9985631	9985631	+	Intron	SNP	G	G	A	rs140647459	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:9985631G>A	ENST00000383811.3	+	10	1647				CRELD1_ENST00000397170.3_Intron|CRELD1_ENST00000452070.1_Intron|CRELD1_ENST00000489674.1_Intron|CRELD1_ENST00000326434.5_Missense_Mutation_p.R365H	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1						cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R365H(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						acaacccgacgctggaagttg	0.468																																					p.R365H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1094A	3						.	G	HIS/ARG,,	1,4405	2.1+/-5.4	0,1,2202	104.0	101.0	102.0		1094,,	-3.0	0.0	3	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron,intron	CRELD1	NM_001031717.3,NM_001077415.2,NM_015513.4	29,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	365/423,,	9985631	2,13004	2203	4300	6503	9960631	SO:0001627	intron_variant	78987	exon11			AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.1049-418G>A	3.37:g.9985631G>A			9960631	NM_001031717	A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	37	CCDS2593.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433064	0.25813	2.27E-4	1.16E-4	ENSG00000163703	ENST00000326434	T	0.63417	-0.04	3.28	-3.0	0.05480	.	1.590450	0.03696	N	0.247852	T	0.36936	0.0985	.	.	.	0.09310	N	1	P	0.46020	0.871	B	0.33042	0.157	T	0.35051	-0.9804	8	.	.	.	.	2.0267	0.03520	0.1134:0.1601:0.2405:0.486	.	365	Q96HD1-2	.	H	365	ENSP00000321856:R365H	.	R	+	2	0	CRELD1	9960631	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.014000	0.12656	-0.411000	0.07530	0.591000	0.81541	CGC		0.468	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513	
TOP2B	7155	broad.mit.edu	37	3	25668727	25668727	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:25668727C>T	ENST00000264331.4	-	16	1966	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	TOP2B_ENST00000435706.2_Missense_Mutation_p.R651H	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	656					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)	p.R651H(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	AAACAAGATGCGATGCCTTTC	0.353																																					p.R651H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1952A	3						.						169.0	169.0	169.0					3																	25668727		1896	4110	6006	25643731	SO:0001583	missense	7155	exon16			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1967G>A	3.37:g.25668727C>T	ENSP00000264331:p.Arg656His		25643731	NM_001068	Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37		.	.	.	.	.	.	.	.	.	.	C	35	5.420360	0.96111	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.54479	0.57;0.57	5.47	5.47	0.80525	.	0.047426	0.85682	D	0.000000	T	0.79667	0.4485	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.83665	0.0163	10	0.72032	D	0.01	-11.4448	19.6613	0.95875	0.0:1.0:0.0:0.0	.	651	Q02880-2	.	H	651;656;651	ENSP00000396704:R651H;ENSP00000264331:R656H	ENSP00000264331:R656H	R	-	2	0	TOP2B	25643731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.702000	0.84576	2.711000	0.92665	0.650000	0.86243	CGC		0.353	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			
SLC4A7	9497	broad.mit.edu	37	3	27436082	27436082	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:27436082C>T	ENST00000295736.5	-	20	3087	c.3017G>A	c.(3016-3018)cGt>cAt	p.R1006H	SLC4A7_ENST00000446700.1_Missense_Mutation_p.R998H|SLC4A7_ENST00000437179.1_Missense_Mutation_p.R887H|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R1002H|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R882H|SLC4A7_ENST00000435667.2_Missense_Mutation_p.R891H|SLC4A7_ENST00000454389.1_Missense_Mutation_p.R1015H|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000455077.1_Missense_Mutation_p.R887H|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R1002H|SLC4A7_ENST00000388777.4_Missense_Mutation_p.R556H	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1006					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.R1006H(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CCGCTGTTCACGAATTCCCAA	0.398																																					p.R1006H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3017A	3						.						77.0	75.0	76.0					3																	27436082		2203	4300	6503	27411086	SO:0001583	missense	9497	exon20			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3017G>A	3.37:g.27436082C>T	ENSP00000295736:p.Arg1006His		27411086	NM_003615	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	C	36	5.632261	0.96682	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	D;D;D;D;D;D;D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.77	5.77	0.91146	Bicarbonate transporter, C-terminal (1);	0.054724	0.64402	D	0.000001	D	0.91597	0.7345	M	0.87456	2.885	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.998;0.989;0.998;1.0;0.998;0.992;0.981;0.998;0.989	D	0.92249	0.5807	10	0.87932	D	0	.	19.9946	0.97381	0.0:1.0:0.0:0.0	.	1002;887;998;1002;1015;556;882;1006;887	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	H	557;1006;882;1015;1002;887;998;887;1002;891;556;902	ENSP00000411031:R557H;ENSP00000295736:R1006H;ENSP00000416368:R882H;ENSP00000390394:R1015H;ENSP00000414797:R1002H;ENSP00000394252:R887H;ENSP00000406605:R998H;ENSP00000407382:R887H;ENSP00000406804:R1002H;ENSP00000395336:R891H;ENSP00000373429:R556H;ENSP00000388703:R902H	ENSP00000295736:R1006H	R	-	2	0	SLC4A7	27411086	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.728000	0.93425	0.591000	0.81541	CGT		0.398	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615	
UBP1	7342	broad.mit.edu	37	3	33450240	33450240	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:33450240T>C	ENST00000283629.3	-	8	1398	c.869A>G	c.(868-870)aAg>aGg	p.K290R	UBP1_ENST00000283628.5_Missense_Mutation_p.K290R|UBP1_ENST00000486388.1_5'Flank|UBP1_ENST00000447368.2_Intron	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	290					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.K290R(1)		breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						CTTGCTGGACTTTTTCTGCTC	0.428																																					p.K290R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A869G	3						.						126.0	121.0	123.0					3																	33450240		2203	4300	6503	33425244	SO:0001583	missense	7342	exon9			AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.869A>G	3.37:g.33450240T>C	ENSP00000283629:p.Lys290Arg		33425244	NM_001128161	Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.663038	0.29515	.	.	ENSG00000153560	ENST00000283629;ENST00000283628	T;T	0.18174	2.23;2.23	6.07	4.73	0.59995	.	0.047780	0.85682	D	0.000000	T	0.10508	0.0257	N	0.17474	0.49	0.44728	D	0.997728	B	0.15141	0.012	B	0.12156	0.007	T	0.17048	-1.0382	10	0.23302	T	0.38	-18.8256	11.4385	0.50083	0.0:0.0785:0.0:0.9215	.	290	Q9NZI7	UBIP1_HUMAN	R	290	ENSP00000283629:K290R;ENSP00000283628:K290R	ENSP00000283628:K290R	K	-	2	0	UBP1	33425244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.463000	0.66712	2.330000	0.79161	0.477000	0.44152	AAG		0.428	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517	
STAC	6769	broad.mit.edu	37	3	36422209	36422209	+	Missense_Mutation	SNP	C	C	T	rs139848906	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:36422209C>T	ENST00000273183.3	+	1	374	c.74C>T	c.(73-75)cCg>cTg	p.P25L	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Missense_Mutation_p.P25L	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	25					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)	p.P25L(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GCCGAGCAACCGCCCTCTCCT	0.672																																					p.P25L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C74T	3						.	C	LEU/PRO	2,4392		0,2,2195	25.0	20.0	22.0		74	5.0	1.0	3	dbSNP_134	22	0,8580		0,0,4290	yes	missense	STAC	NM_003149.1	98	0,2,6485	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	25/403	36422209	2,12972	2197	4290	6487	36397213	SO:0001583	missense	6769	exon1			D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.74C>T	3.37:g.36422209C>T	ENSP00000273183:p.Pro25Leu		36397213	NM_003149	B2R8S8	Missense_Mutation	SNP	ENST00000273183.3	37	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444821	0.63178	4.55E-4	0.0	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000434649	T;T;T	0.76839	-1.05;0.78;0.57	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000001	D	0.84857	0.5565	L	0.50333	1.59	0.53005	D	0.999969	D;D	0.89917	1.0;0.992	D;P	0.85130	0.997;0.578	D	0.85603	0.1253	10	0.62326	D	0.03	.	15.9697	0.80004	0.0:1.0:0.0:0.0	.	25;25	E9PEA7;Q99469	.;STAC_HUMAN	L	25	ENSP00000273183:P25L;ENSP00000393713:P25L;ENSP00000398403:P25L	ENSP00000273183:P25L	P	+	2	0	STAC	36397213	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.280000	0.58959	2.672000	0.90937	0.650000	0.86243	CCG		0.672	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149	
VILL	50853	broad.mit.edu	37	3	38043296	38043296	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:38043296G>A	ENST00000283713.6	+	13	1690	c.1424G>A	c.(1423-1425)gGc>gAc	p.G475D	VILL_ENST00000465644.1_Missense_Mutation_p.G193D|VILL_ENST00000383759.2_Missense_Mutation_p.G475D			O15195	VILL_HUMAN	villin-like	475					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)	p.G475D(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GTGACCATGGGCAGCGAGCCC	0.597																																					p.G475D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1424A	3						.						147.0	126.0	133.0					3																	38043296		2203	4300	6503	38018300	SO:0001583	missense	50853	exon12				CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1424G>A	3.37:g.38043296G>A	ENSP00000283713:p.Gly475Asp		38018300	NM_015873	A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048341	0.55110	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.63913	-0.07;-0.07;-0.07	4.88	3.99	0.46301	Gelsolin domain (1);	0.048453	0.85682	D	0.000000	T	0.81711	0.4880	M	0.88241	2.94	0.51482	D	0.99992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.85575	0.1236	10	0.66056	D	0.02	-34.7862	15.0716	0.72042	0.0:0.1432:0.8568:0.0	.	461;475	O15195-2;O15195	.;VILL_HUMAN	D	475;475;461;193	ENSP00000283713:G475D;ENSP00000373266:G475D;ENSP00000422096:G193D	ENSP00000283713:G475D	G	+	2	0	VILL	38018300	1.000000	0.71417	0.995000	0.50966	0.109000	0.19521	9.762000	0.98944	1.182000	0.42928	-0.519000	0.04390	GGC		0.597	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873	
SCN5A	6331	broad.mit.edu	37	3	38647507	38647507	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:38647507C>T	ENST00000333535.4	-	10	1422	c.1273G>A	c.(1273-1275)Gct>Act	p.A425T	SCN5A_ENST00000451551.2_Missense_Mutation_p.A425T|SCN5A_ENST00000413689.1_Missense_Mutation_p.A425T|SCN5A_ENST00000423572.2_Missense_Mutation_p.A425T|SCN5A_ENST00000450102.2_Missense_Mutation_p.A425T|SCN5A_ENST00000414099.2_Missense_Mutation_p.A425T|SCN5A_ENST00000425664.1_Missense_Mutation_p.A425T|SCN5A_ENST00000455624.2_Missense_Mutation_p.A425T|SCN5A_ENST00000443581.1_Missense_Mutation_p.A425T|SCN5A_ENST00000449557.2_Missense_Mutation_p.A425T			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	425					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.A425T(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCGGTCTCAGCGATGGTGGCT	0.557																																					p.A425T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1273A	3						.						84.0	90.0	88.0					3																	38647507		2078	4191	6269	38622511	SO:0001583	missense	6331	exon10			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1273G>A	3.37:g.38647507C>T	ENSP00000328968:p.Ala425Thr		38622511	NM_001099405	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.859167	0.91433	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96396	-3.94;-3.95;-3.94;-3.94;-3.95;-3.94;-3.94;-4.0;-3.94;-3.95	5.54	5.54	0.83059	.	0.051956	0.85682	D	0.000000	D	0.97870	0.9300	M	0.67700	2.07	0.47037	D	0.999296	D;D;D;D;D;D;D	0.89917	0.985;1.0;0.998;0.985;0.985;1.0;0.991	B;D;P;B;B;D;P	0.91635	0.41;0.99;0.807;0.41;0.41;0.999;0.615	D	0.98274	1.0505	10	0.87932	D	0	.	19.6787	0.95950	0.0:1.0:0.0:0.0	.	425;425;425;425;425;425;425	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	T	425	ENSP00000398962:A425T;ENSP00000398266:A425T;ENSP00000410257:A425T;ENSP00000388797:A425T;ENSP00000397915:A425T;ENSP00000416634:A425T;ENSP00000328968:A425T;ENSP00000399524:A425T;ENSP00000403355:A425T;ENSP00000413996:A425T	ENSP00000328968:A425T	A	-	1	0	SCN5A	38622511	0.981000	0.34729	0.813000	0.32504	0.966000	0.64601	4.744000	0.62118	2.884000	0.98904	0.655000	0.94253	GCT		0.557	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
SCN11A	11280	broad.mit.edu	37	3	38991804	38991804	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:38991804C>T	ENST00000302328.3	-	1	248	c.50G>A	c.(49-51)cGc>cAc	p.R17H	SCN11A_ENST00000444237.2_Missense_Mutation_p.R17H|SCN11A_ENST00000450244.1_Missense_Mutation_p.R17H|SCN11A_ENST00000456224.3_Missense_Mutation_p.R17H	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	17					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R17H(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGTGAAGGGGCGGAAATTCCG	0.502																																					p.R17H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G50A	3						.						98.0	90.0	92.0					3																	38991804		2203	4300	6503	38966808	SO:0001583	missense	11280	exon1			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.50G>A	3.37:g.38991804C>T	ENSP00000307599:p.Arg17His		38966808	NM_014139	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914968	0.52546	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96856	-4.15;-4.15;-4.1;-4.01	5.08	2.93	0.34026	.	0.190229	0.46758	D	0.000268	D	0.95242	0.8457	M	0.85462	2.755	0.37410	D	0.913208	B	0.24768	0.111	B	0.17722	0.019	D	0.94886	0.8043	10	0.66056	D	0.02	.	9.9336	0.41537	0.0:0.801:0.0:0.199	.	17	Q9UI33	SCNBA_HUMAN	H	17	ENSP00000307599:R17H;ENSP00000400945:R17H;ENSP00000416757:R17H;ENSP00000408028:R17H	ENSP00000307599:R17H	R	-	2	0	SCN11A	38966808	0.878000	0.30173	1.000000	0.80357	0.982000	0.71751	1.305000	0.33493	1.141000	0.42275	0.655000	0.94253	CGC		0.502	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	
ANO10	55129	broad.mit.edu	37	3	43618556	43618556	+	Missense_Mutation	SNP	C	C	T	rs375470443		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:43618556C>T	ENST00000292246.3	-	6	960	c.790G>A	c.(790-792)Ggc>Agc	p.G264S	ANO10_ENST00000414522.2_Missense_Mutation_p.G264S|ANO10_ENST00000451430.2_Missense_Mutation_p.G153S|ANO10_ENST00000396091.3_Missense_Mutation_p.G198S|ANO10_ENST00000350459.4_Intron	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	264					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.G264S(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TTGGCACAGCCACGCTTCCAC	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18015	0.0		0.0	False		,,,				2504	0.0				p.G264S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G790A	3						.	C	SER/GLY,SER/GLY,SER/GLY,,SER/GLY	2,4404	4.2+/-10.8	0,2,2201	85.0	75.0	78.0		790,592,457,,790	3.9	1.0	3		78	0,8600		0,0,4300	no	missense,missense,missense,intron,missense	ANO10	NM_001204831.1,NM_001204832.1,NM_001204833.1,NM_001204834.1,NM_018075.3	56,56,56,,56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign,,benign	264/628,198/595,153/550,,264/661	43618556	2,13004	2203	4300	6503	43593560	SO:0001583	missense	55129	exon6			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.790G>A	3.37:g.43618556C>T	ENSP00000292246:p.Gly264Ser		43593560	NM_018075	A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	ENST00000292246.3	37	CCDS2710.2	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933659	0.34096	4.54E-4	0.0	ENSG00000160746	ENST00000292246;ENST00000396091;ENST00000414522;ENST00000451430;ENST00000428472	T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04	5.65	3.87	0.44632	.	0.445087	0.28072	N	0.016715	T	0.40595	0.1123	N	0.19112	0.55	0.27224	N	0.959575	B;B;B;B	0.11235	0.004;0.0;0.001;0.002	B;B;B;B	0.15870	0.012;0.004;0.008;0.014	T	0.19128	-1.0315	10	0.31617	T	0.26	.	3.8218	0.08839	0.2803:0.4795:0.0:0.2402	.	153;264;198;264	Q9NW15-4;C9JHS1;Q9NW15-3;Q9NW15	.;.;.;ANO10_HUMAN	S	264;198;264;153;153	ENSP00000292246:G264S;ENSP00000379398:G198S;ENSP00000396990:G264S;ENSP00000394119:G153S;ENSP00000416266:G153S	ENSP00000292246:G264S	G	-	1	0	ANO10	43593560	0.262000	0.24073	0.986000	0.45419	0.999000	0.98932	1.233000	0.32648	0.756000	0.33013	0.655000	0.94253	GGC		0.498	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075	
ZNF445	353274	broad.mit.edu	37	3	44496789	44496789	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:44496789T>C	ENST00000396077.2	-	3	600	c.253A>G	c.(253-255)Agg>Ggg	p.R85G	ZNF445_ENST00000425708.2_Missense_Mutation_p.R85G	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	85	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R85G(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ACGTCAGGCCTCAGCCACCAG	0.602																																					p.R85G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A253G	3						.						69.0	78.0	75.0					3																	44496789		2203	4300	6503	44471793	SO:0001583	missense	353274	exon3			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.253A>G	3.37:g.44496789T>C	ENSP00000379387:p.Arg85Gly		44471793	NM_181489	Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	T	18.35	3.605570	0.66445	.	.	ENSG00000185219	ENST00000425708;ENST00000396077;ENST00000340674;ENST00000430301	T;T	0.06371	3.31;3.31	4.45	0.312	0.15837	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.45606	D	0.000356	T	0.29882	0.0747	H	0.94222	3.51	0.34292	D	0.683404	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.49093	-0.8975	10	0.87932	D	0	.	9.9085	0.41390	0.0:0.0:0.5251:0.4749	.	85;85	B7ZKX2;P59923	.;ZN445_HUMAN	G	85;85;82;84	ENSP00000413073:R85G;ENSP00000379387:R85G	ENSP00000342436:R82G	R	-	1	2	ZNF445	44471793	0.157000	0.22836	0.999000	0.59377	0.997000	0.91878	-0.124000	0.10595	-0.017000	0.14103	0.460000	0.39030	AGG		0.602	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489	
ZNF501	115560	broad.mit.edu	37	3	44776595	44776595	+	Missense_Mutation	SNP	C	C	T	rs202220207	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:44776595C>T	ENST00000396048.2	+	3	1119	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	KIAA1143_ENST00000484437.1_5'Flank	NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	228					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.R228C(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		AAAAACTTTCCGCAAACAAGC	0.408													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20560	0.0		0.001	False		,,,				2504	0.0				p.R228C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C682T	3						.	C	CYS/ARG	0,4200		0,0,2100	69.0	72.0	71.0		682	-0.1	1.0	3		71	5,8501		0,5,4248	no	missense	ZNF501	NM_145044.2	180	0,5,6348	TT,TC,CC		0.0588,0.0,0.0394	probably-damaging	228/272	44776595	5,12701	2100	4253	6353	44751599	SO:0001583	missense	115560	exon3			BC013762	CCDS2720.2	3p21.32	2013-01-08			ENSG00000186446	ENSG00000186446		"""Zinc fingers, C2H2-type"""	23717	protein-coding gene	gene with protein product			"""zinc finger protein 52"""	ZNF52		1505991	Standard	NM_145044		Approved	MGC21738	uc003cnu.2	Q96CX3	OTTHUMG00000133048	ENST00000396048.2:c.682C>T	3.37:g.44776595C>T	ENSP00000379363:p.Arg228Cys		44751599	NM_145044	B4DLY7|Q96NU9	Missense_Mutation	SNP	ENST00000396048.2	37	CCDS2720.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.07	2.426051	0.43020	0.0	5.88E-4	ENSG00000186446	ENST00000396048;ENST00000332489	T	0.08282	3.11	2.79	-0.128	0.13506	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07954	0.0199	L	0.46567	1.45	0.21355	N	0.999714	B	0.09022	0.002	B	0.04013	0.001	T	0.31336	-0.9947	9	0.51188	T	0.08	.	6.9639	0.24613	0.0:0.5327:0.0:0.4673	.	228	Q96CX3	ZN501_HUMAN	C	228;172	ENSP00000379363:R228C	ENSP00000330388:R172C	R	+	1	0	ZNF501	44751599	0.000000	0.05858	0.995000	0.50966	0.994000	0.84299	-0.163000	0.09997	-0.198000	0.10333	0.563000	0.77884	CGC		0.408	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256654.4	NM_145044	
SLC6A20	54716	broad.mit.edu	37	3	45823591	45823591	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:45823591C>T	ENST00000358525.4	-	2	361	c.246G>A	c.(244-246)ccG>ccA	p.P82P	SLC6A20_ENST00000353278.4_Silent_p.P82P|SLC6A20_ENST00000456124.2_Silent_p.P82P	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	82					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)	p.P82P(2)		breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CACTGAGGTACGGGCTGATGG	0.647																																					p.P82P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G246A	3						.						54.0	41.0	45.0					3																	45823591		2203	4300	6503	45798595	SO:0001819	synonymous_variant	54716	exon2			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.246G>A	3.37:g.45823591C>T			45798595	NM_022405	A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	ENST00000358525.4	37	CCDS43077.1																																																																																				0.647	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208	
CCR5	1234	broad.mit.edu	37	3	46415067	46415067	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:46415067G>A	ENST00000292303.4	+	2	820	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	CCR5_ENST00000343801.4_Missense_Mutation_p.R225Q|CCR5_ENST00000445772.1_Missense_Mutation_p.R225Q|RP11-24F11.2_ENST00000451485.1_RNA	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	225					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.R225Q(1)		central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	CTTCGGTGTCGAAATGAGAAG	0.463																																					p.R225Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G674A	3						.																																			46390071	SO:0001583	missense	1234	exon3				CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1606	protein-coding gene	gene with protein product		601373	"""chemokine (C-C motif) receptor 5"""	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.674G>A	3.37:g.46415067G>A	ENSP00000292303:p.Arg225Gln		46390071	NM_001100168	O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Missense_Mutation	SNP	ENST00000292303.4	37	CCDS2739.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953917	0.73902	.	.	ENSG00000160791	ENST00000343801;ENST00000400886;ENST00000292303;ENST00000445772	T;T;T	0.37915	1.17;1.17;1.17	5.69	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.338132	0.20398	U	0.093109	T	0.46521	0.1397	M	0.73430	2.235	0.19775	N	0.999957	P	0.46784	0.884	P	0.45195	0.473	T	0.45833	-0.9234	10	0.49607	T	0.09	.	16.0589	0.80826	0.0:0.0:0.8647:0.1353	.	225	P51681	CCR5_HUMAN	Q	225;205;225;225	ENSP00000343985:R225Q;ENSP00000292303:R225Q;ENSP00000404881:R225Q	ENSP00000292303:R225Q	R	+	2	0	CCR5	46390071	0.001000	0.12720	0.640000	0.29408	0.977000	0.68977	0.962000	0.29280	1.388000	0.46506	0.561000	0.74099	CGA		0.463	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2	NM_000579	
LTF	4057	broad.mit.edu	37	3	46491493	46491493	+	Missense_Mutation	SNP	G	G	A	rs200379115		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:46491493G>A	ENST00000231751.4	-	8	1203	c.908C>T	c.(907-909)cCg>cTg	p.P303L	LTF_ENST00000417439.1_Missense_Mutation_p.P303L|LTF_ENST00000426532.2_Missense_Mutation_p.P259L	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	303	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)	p.P303L(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		CTGGAATTTCGGTGACTTGTC	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		20157	0.001		0.0	False		,,,				2504	0.0				p.P259L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C776T	3						.						71.0	72.0	71.0					3																	46491493		2203	4296	6499	46466497	SO:0001583	missense	4057	exon8				CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.908C>T	3.37:g.46491493G>A	ENSP00000231751:p.Pro303Leu		46466497	NM_001199149	A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	CCDS33747.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.268	1.044912	0.19748	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	5.13	-1.07	0.09968	.	1.998340	0.02156	N	0.058429	T	0.07638	0.0192	N	0.17474	0.49	0.09310	N	1	B;P;B	0.47253	0.018;0.892;0.018	B;B;B	0.33750	0.008;0.169;0.008	T	0.36089	-0.9762	10	0.37606	T	0.19	-1.9252	7.8248	0.29309	0.0:0.2526:0.2735:0.4739	.	303;290;303	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	L	303;259;303;290	ENSP00000231751:P303L;ENSP00000405719:P259L;ENSP00000405546:P303L;ENSP00000397427:P290L	ENSP00000231751:P303L	P	-	2	0	LTF	46466497	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.215000	0.17562	0.001000	0.14605	0.650000	0.86243	CCG		0.418	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343	
NBEAL2	23218	broad.mit.edu	37	3	47040312	47040312	+	Silent	SNP	C	C	T	rs143491739		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:47040312C>T	ENST00000450053.3	+	23	3506	c.3327C>T	c.(3325-3327)gaC>gaT	p.D1109D	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.D1109D	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1109					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.D670D(1)|p.D1109D(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAGCAGATGACGTGCAGGTCA	0.662											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		18342	0.0		0.001	False		,,,				2504	0.0				p.D1109D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3327T	3						.						38.0	40.0	39.0					3																	47040312		2083	4191	6274	47015316	SO:0001819	synonymous_variant	23218	exon23			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3327C>T	3.37:g.47040312C>T		943	47015316	NM_015175	O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	CCDS46817.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.015	-1.567965	0.00895	.	.	ENSG00000160796	ENST00000416683	.	.	.	5.05	-0.012	0.13990	.	.	.	.	.	T	0.24275	0.0588	.	.	.	0.22982	N	0.998474	.	.	.	.	.	.	T	0.26573	-1.0099	4	.	.	.	.	5.0126	0.14321	0.0:0.3823:0.1641:0.4536	.	.	.	.	M	581	.	.	T	+	2	0	NBEAL2	47015316	0.065000	0.20965	0.001000	0.08648	0.022000	0.10575	0.078000	0.14761	0.077000	0.16863	-0.232000	0.12228	ACG		0.662	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064	
DHX30	22907	broad.mit.edu	37	3	47891428	47891428	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:47891428G>A	ENST00000445061.1	+	22	3810	c.3403G>A	c.(3403-3405)Gtg>Atg	p.V1135M	MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000348968.4_Missense_Mutation_p.V1107M|DHX30_ENST00000457607.1_Missense_Mutation_p.V1163M|DHX30_ENST00000446256.2_Missense_Mutation_p.V1096M	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1135						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.V1135M(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTCGCGTACCGTGCGGCTGCT	0.677											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V1135M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3403A	3						.						29.0	30.0	30.0					3																	47891428		2203	4300	6503	47866432	SO:0001583	missense	22907	exon22			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.3403G>A	3.37:g.47891428G>A	ENSP00000405620:p.Val1135Met	950	47866432	NM_138615	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	8.708	0.911409	0.17833	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03242	4.01;4.0;4.01;4.0	5.0	5.0	0.66597	.	0.301574	0.32952	N	0.005453	T	0.01976	0.0062	N	0.14661	0.345	0.26701	N	0.971159	P;B	0.42757	0.789;0.389	B;B	0.30716	0.074;0.119	T	0.48258	-0.9051	10	0.46703	T	0.11	.	7.3077	0.26457	0.1889:0.0:0.8111:0.0	.	1135;1096	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	M	1096;1135;1107;1163	ENSP00000392601:V1096M;ENSP00000405620:V1135M;ENSP00000343442:V1107M;ENSP00000394682:V1163M	ENSP00000343442:V1107M	V	+	1	0	DHX30	47866432	1.000000	0.71417	0.934000	0.37439	0.582000	0.36321	3.518000	0.53451	2.303000	0.77524	0.462000	0.41574	GTG		0.677	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615	
PLXNB1	5364	broad.mit.edu	37	3	48465456	48465456	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:48465456G>T	ENST00000358536.4	-	3	834	c.565C>A	c.(565-567)Ctg>Atg	p.L189M	PLXNB1_ENST00000456774.1_Missense_Mutation_p.L189M|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L189M|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L189M	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	189	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.L189M(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCGGCCACAGGGCCCGGGTT	0.662																																					p.L189M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C565A	3						.						10.0	13.0	12.0					3																	48465456		2198	4289	6487	48440460	SO:0001583	missense	5364	exon3			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.565C>A	3.37:g.48465456G>T	ENSP00000351338:p.Leu189Met		48440460	NM_002673	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	9.538	1.112707	0.20795	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.07688	3.17;3.17;3.17;3.17	4.26	-0.0149	0.13978	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	5.433130	0.01797	N	0.032690	T	0.36054	0.0953	M	0.90425	3.115	0.25391	N	0.988521	D;B	0.89917	1.0;0.363	D;B	0.87578	0.998;0.19	T	0.08700	-1.0709	10	0.72032	D	0.01	.	7.8251	0.29311	0.5362:0.0:0.4638:0.0	.	189;189	O43157;O43157-2	PLXB1_HUMAN;.	M	189	ENSP00000296440:L189M;ENSP00000351242:L189M;ENSP00000351338:L189M;ENSP00000414199:L189M	ENSP00000296440:L189M	L	-	1	2	PLXNB1	48440460	1.000000	0.71417	0.046000	0.18839	0.056000	0.15407	0.924000	0.28777	0.187000	0.20147	0.591000	0.81541	CTG		0.662	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673	
DAG1	1605	broad.mit.edu	37	3	49569501	49569501	+	Silent	SNP	G	G	A	rs201897321		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:49569501G>A	ENST00000539901.1	+	3	2115	c.1557G>A	c.(1555-1557)ccG>ccA	p.P519P	DAG1_ENST00000515359.2_Silent_p.P519P|DAG1_ENST00000538711.1_Silent_p.P519P|DAG1_ENST00000541308.1_Silent_p.P519P|DAG1_ENST00000308775.2_Silent_p.P519P|DAG1_ENST00000545947.1_Silent_p.P519P	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	519					basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)	p.P519P(1)		NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGAAGATCCCGTCAGACACTT	0.572													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19189	0.0		0.0	False		,,,				2504	0.0				p.P519P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1557A	3						.						76.0	65.0	68.0					3																	49569501		2203	4300	6503	49544505	SO:0001819	synonymous_variant	1605	exon3			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.1557G>A	3.37:g.49569501G>A			49544505	NM_004393	A8K6M7|Q969J9	Silent	SNP	ENST00000539901.1	37	CCDS2799.1																																																																																				0.572	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1		
RBM6	10180	broad.mit.edu	37	3	50005234	50005234	+	Missense_Mutation	SNP	C	C	T	rs139195645		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:50005234C>T	ENST00000266022.4	+	3	635	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_5'UTR	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	126					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R126W(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TGGGGATTTTCGGGATAGAGA	0.468																																					p.R126W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C376T	3						.	C	,TRP/ARG	0,4406		0,0,2203	111.0	121.0	118.0		,376	5.8	1.0	3	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	RBM6	NM_001167582.1,NM_005777.2	,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging	,126/1124	50005234	1,13005	2203	4300	6503	49980238	SO:0001583	missense	10180	exon3			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.376C>T	3.37:g.50005234C>T	ENSP00000266022:p.Arg126Trp		49980238	NM_005777	O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846690	0.51164	0.0	1.16E-4	ENSG00000004534	ENST00000266022;ENST00000416583	T	0.35048	1.33	5.77	5.77	0.91146	.	0.174995	0.40554	N	0.001074	T	0.53981	0.1830	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.65573	0.936	T	0.43410	-0.9393	9	.	.	.	-10.6159	18.1625	0.89714	0.0:1.0:0.0:0.0	.	126	P78332	RBM6_HUMAN	W	126	ENSP00000266022:R126W	.	R	+	1	2	RBM6	49980238	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.717000	0.37991	2.737000	0.93849	0.561000	0.74099	CGG		0.468	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777	
ZMYND10	51364	broad.mit.edu	37	3	50380623	50380623	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:50380623C>T	ENST00000231749.3	-	6	1797	c.525G>A	c.(523-525)caG>caA	p.Q175Q	RASSF1_ENST00000357043.2_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|RASSF1_ENST00000488024.1_5'Flank|ZMYND10_ENST00000360165.3_Silent_p.Q175Q|RASSF1_ENST00000359365.4_5'Flank|ZMYND10_ENST00000490675.1_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	175					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)	p.Q175Q(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TCAGCTCTGCCTGCTTCTGCA	0.592										TSP Lung(30;0.18)																											p.Q175Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G525A	3						.						151.0	129.0	136.0					3																	50380623		2203	4300	6503	50355627	SO:0001819	synonymous_variant	51364	exon6			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.525G>A	3.37:g.50380623C>T			50355627	NM_015896	A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Silent	SNP	ENST00000231749.3	37	CCDS2825.1																																																																																				0.592	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	NM_015896	
DOCK3	1795	broad.mit.edu	37	3	51127717	51127717	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:51127717C>T	ENST00000266037.9	+	9	671	c.648C>T	c.(646-648)caC>caT	p.H216H		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	216					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.H216H(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGCCACATCACTTCTTCCTCA	0.418																																					p.L203F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C607T	3						.						67.0	66.0	67.0					3																	51127717		1948	4145	6093	51102757	SO:0001819	synonymous_variant	1795	exon9			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.648C>T	3.37:g.51127717C>T			51102757	NM_004947	O15017	Silent	SNP	ENST00000266037.9	37	CCDS46835.1																																																																																				0.418	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
RAD54L2	23132	broad.mit.edu	37	3	51696446	51696446	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:51696446C>T	ENST00000409535.2	+	22	3539	c.3414C>T	c.(3412-3414)tcC>tcT	p.S1138S	RAD54L2_ENST00000296477.3_Silent_p.S832S	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1138						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)	p.S1138S(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CCCCAGGTTCCCAGGGACCTT	0.537																																					p.S1138S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3414T	3						.						52.0	55.0	54.0					3																	51696446		2203	4300	6503	51671486	SO:0001819	synonymous_variant	23132	exon22			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.3414C>T	3.37:g.51696446C>T			51671486	NM_015106	Q8TB57|Q9BV54	Silent	SNP	ENST00000409535.2	37	CCDS33765.2	.	.	.	.	.	.	.	.	.	.	C	4.267	0.048626	0.08243	.	.	ENSG00000164080	ENST00000432863	.	.	.	5.48	2.53	0.30540	.	.	.	.	.	T	0.44953	0.1318	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26780	-1.0093	4	.	.	.	-14.9198	2.2408	0.04019	0.1546:0.5191:0.1502:0.1761	.	.	.	.	S	967	.	.	P	+	1	0	RAD54L2	51671486	0.987000	0.35691	1.000000	0.80357	0.994000	0.84299	0.119000	0.15626	0.196000	0.20367	0.563000	0.77884	CCA		0.537	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106	
ALAS1	211	broad.mit.edu	37	3	52237926	52237926	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:52237926G>A	ENST00000394965.2	+	5	835	c.475G>A	c.(475-477)Gat>Aat	p.D159N	ALAS1_ENST00000310271.2_Missense_Mutation_p.D159N|ALAS1_ENST00000469224.1_Missense_Mutation_p.D159N|ALAS1_ENST00000484952.1_Missense_Mutation_p.D159N	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	159					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)	p.D159N(1)		endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	TGTGAAAACCGATGGAGGGGA	0.448																																					p.D159N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G475A	3						.						117.0	114.0	115.0					3																	52237926		2203	4300	6503	52212966	SO:0001583	missense	211	exon5			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.475G>A	3.37:g.52237926G>A	ENSP00000378416:p.Asp159Asn		52212966	NM_000688		Missense_Mutation	SNP	ENST00000394965.2	37	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798930	0.31777	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952	D;D;D;D	0.97620	-4.46;-4.46;-4.46;-4.46	5.8	1.92	0.25849	.	0.794144	0.12198	N	0.490547	D	0.92260	0.7545	L	0.38175	1.15	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.82018	-0.0665	10	0.21540	T	0.41	-0.3699	3.7121	0.08424	0.1418:0.1326:0.5881:0.1375	.	176;159	B4DVA0;P13196	.;HEM1_HUMAN	N	159	ENSP00000417719:D159N;ENSP00000378416:D159N;ENSP00000309259:D159N;ENSP00000418779:D159N	ENSP00000309259:D159N	D	+	1	0	ALAS1	52212966	0.031000	0.19500	0.000000	0.03702	0.014000	0.08584	0.651000	0.24873	0.337000	0.23665	0.655000	0.94253	GAT		0.448	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1		
STAB1	23166	broad.mit.edu	37	3	52555387	52555387	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:52555387C>T	ENST00000321725.6	+	56	5995	c.5919C>T	c.(5917-5919)ggC>ggT	p.G1973G		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1973	Laminin EGF-like 2. {ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.G1973G(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTTGCCCTGGCGGCCCCAGCA	0.637																																					p.G1973G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5919T	3						.						100.0	98.0	99.0					3																	52555387		2203	4300	6503	52530427	SO:0001819	synonymous_variant	23166	exon56			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5919C>T	3.37:g.52555387C>T			52530427	NM_015136	A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	CCDS33768.1																																																																																				0.637	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	
CACNA1D	776	broad.mit.edu	37	3	53694272	53694272	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:53694272C>T	ENST00000350061.5	+	5	1247	c.736C>T	c.(736-738)Cga>Tga	p.R246*	CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.R246*|CACNA1D_ENST00000288139.4_Nonsense_Mutation_p.R246*	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	246					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.R246*(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCGAGTGTTGCGACCACTTCG	0.473																																					p.R246X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C736T	3						.						67.0	62.0	63.0					3																	53694272		2203	4300	6503	53669312	SO:0001587	stop_gained	776	exon5			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.736C>T	3.37:g.53694272C>T	ENSP00000288133:p.Arg246*		53669312	NM_001128839	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Nonsense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	37	6.440473	0.97568	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	.	.	.	5.19	3.18	0.36537	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9054	0.63831	0.3786:0.6214:0.0:0.0	.	.	.	.	X	246	.	ENSP00000288139:R246X	R	+	1	2	CACNA1D	53669312	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.118000	0.50414	1.343000	0.45638	0.655000	0.94253	CGA		0.473	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	
CACNA1D	776	broad.mit.edu	37	3	53820895	53820895	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:53820895G>T	ENST00000350061.5	+	40	5350	c.4839G>T	c.(4837-4839)caG>caT	p.Q1613H	CACNA1D_ENST00000540742.1_Missense_Mutation_p.Q505H|CACNA1D_ENST00000422281.2_Missense_Mutation_p.Q1598H|CACNA1D_ENST00000288139.4_Missense_Mutation_p.Q1633H	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1613					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.Q1633H(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCTGATACAGGACTACTTTA	0.468																																					p.Q1598H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4794T	3						.						101.0	96.0	97.0					3																	53820895		2203	4300	6503	53795935	SO:0001583	missense	776	exon39			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.4839G>T	3.37:g.53820895G>T	ENSP00000288133:p.Gln1613His		53795935	NM_001128839	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324256	0.81580	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53	5.92	5.92	0.95590	Voltage-dependent calcium channel, alpha-1 subunit, IQ domain (1);	0.000000	0.85682	D	0.000000	D	0.85609	0.5736	M	0.77103	2.36	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.858;1.0;1.0;1.0	D;B;D;D;D	0.97110	1.0;0.43;1.0;0.997;1.0	D	0.86052	0.1526	10	0.87932	D	0	.	20.3151	0.98650	0.0:0.0:1.0:0.0	.	1598;505;1306;1613;1633	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	H	1613;1633;1598;1306;505	ENSP00000288133:Q1613H;ENSP00000288139:Q1633H;ENSP00000409174:Q1598H;ENSP00000418014:Q1306H;ENSP00000438229:Q505H	ENSP00000288139:Q1633H	Q	+	3	2	CACNA1D	53795935	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.809000	0.96659	0.467000	0.42956	CAG		0.468	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	
CACNA1D	776	broad.mit.edu	37	3	53845152	53845152	+	Missense_Mutation	SNP	G	G	A	rs373783390		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:53845152G>A	ENST00000350061.5	+	48	6716	c.6205G>A	c.(6205-6207)Gaa>Aaa	p.E2069K	CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E2045K|CACNA1D_ENST00000288139.4_Missense_Mutation_p.E2089K	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2069					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.E2089K(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTGATATCCGAAGGCTTGGG	0.507																																					p.E2045K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6133A	3						.	G	LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	90.0	89.0	89.0		6265,6133,6205	5.4	1.0	3		89	0,8600		0,0,4300	no	missense,missense,missense	CACNA1D	NM_000720.2,NM_001128839.1,NM_001128840.1	56,56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	2089/2182,2045/2138,2069/2162	53845152	1,13005	2203	4300	6503	53820192	SO:0001583	missense	776	exon46			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.6205G>A	3.37:g.53845152G>A	ENSP00000288133:p.Glu2069Lys		53820192	NM_001128839	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682608	0.88542	2.27E-4	0.0	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	5.39	5.39	0.77823	.	0.148440	0.42964	D	0.000635	T	0.76198	0.3954	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.76494	0.996;0.981;0.981;0.999	P;P;P;P	0.58266	0.616;0.506;0.562;0.836	T	0.79960	-0.1583	10	0.87932	D	0	.	19.5276	0.95213	0.0:0.0:1.0:0.0	.	2045;1762;2069;2089	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	K	2069;2089;2045;1762	ENSP00000288133:E2069K;ENSP00000288139:E2089K;ENSP00000409174:E2045K;ENSP00000418014:E1762K	ENSP00000288139:E2089K	E	+	1	0	CACNA1D	53820192	1.000000	0.71417	0.952000	0.39060	0.407000	0.30961	9.790000	0.99075	2.710000	0.92621	0.655000	0.94253	GAA		0.507	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	
FLNB	2317	broad.mit.edu	37	3	58155458	58155458	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:58155458C>T	ENST00000295956.4	+	45	7724	c.7559C>T	c.(7558-7560)gCa>gTa	p.A2520V	FLNB_ENST00000358537.3_Missense_Mutation_p.A2496V|FLNB_ENST00000429972.2_Missense_Mutation_p.A2509V|FLNB_ENST00000490882.1_Missense_Mutation_p.A2551V|FLNB_ENST00000348383.5_Missense_Mutation_p.A2479V|FLNB_ENST00000419752.2_Missense_Mutation_p.A2340V|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000493452.1_Missense_Mutation_p.A2327V|FLNB_ENST00000357272.4_3'UTR	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2520	Interaction with FLNA 2.|Interaction with INPPL1.|Self-association site, tail. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.A2520V(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCTAAGGGGGCAGGGCTCTCA	0.592																																					p.A2551V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7652T	3						.						71.0	65.0	67.0					3																	58155458		2203	4300	6503	58130498	SO:0001583	missense	2317	exon46			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.7559C>T	3.37:g.58155458C>T	ENSP00000295956:p.Ala2520Val		58130498	NM_001164317	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.155922	0.38021	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	4.98	4.98	0.66077	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.051103	0.85682	D	0.000000	D	0.87811	0.6271	L	0.48362	1.52	0.52501	D	0.999953	P;B;D;B;D;D	0.54207	0.913;0.233;0.965;0.08;0.965;0.965	P;B;P;B;P;P	0.59171	0.637;0.267;0.853;0.059;0.853;0.853	D	0.83870	0.0273	10	0.16420	T	0.52	.	18.4351	0.90643	0.0:1.0:0.0:0.0	.	2496;2551;2327;2340;2509;2520	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	V	2520;2551;2496;2509;2479;2327;2340	ENSP00000295956:A2520V;ENSP00000420213:A2551V;ENSP00000351339:A2496V;ENSP00000415599:A2509V;ENSP00000232447:A2479V;ENSP00000418510:A2327V;ENSP00000414532:A2340V	ENSP00000295956:A2520V	A	+	2	0	FLNB	58130498	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.565000	0.60836	2.594000	0.87642	0.643000	0.83706	GCA		0.592	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	
ACOX2	8309	broad.mit.edu	37	3	58519857	58519857	+	Missense_Mutation	SNP	G	G	T	rs142555166	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:58519857G>T	ENST00000302819.5	-	4	630	c.339C>A	c.(337-339)gaC>gaA	p.D113E	ACOX2_ENST00000459701.2_Missense_Mutation_p.D113E	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	113					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.D113E(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TTAAGGCCACGTCTCCAGAAA	0.532																																					p.D113E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C339A	3						.						92.0	91.0	91.0					3																	58519857		2203	4300	6503	58494897	SO:0001583	missense	8309	exon4			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.339C>A	3.37:g.58519857G>T	ENSP00000307697:p.Asp113Glu		58494897	NM_003500	A6NF16|B2R8U5	Missense_Mutation	SNP	ENST00000302819.5	37	CCDS33775.1	.	.	.	.	.	.	.	.	.	.	G	8.189	0.795589	0.16327	.	.	ENSG00000168306	ENST00000459701;ENST00000302819;ENST00000474098	T;T;T	0.63255	-0.03;-0.03;-0.03	5.29	-10.6	0.00265	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.898839	0.09682	N	0.769620	T	0.25044	0.0608	N	0.10733	0.035	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.14062	-1.0486	10	0.07482	T	0.82	-3.2396	2.6668	0.05054	0.4606:0.2155:0.1796:0.1443	.	113	Q99424	ACOX2_HUMAN	E	113	ENSP00000418562:D113E;ENSP00000307697:D113E;ENSP00000419927:D113E	ENSP00000307697:D113E	D	-	3	2	ACOX2	58494897	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-3.265000	0.00534	-3.164000	0.00227	-1.287000	0.01368	GAC		0.532	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1		
PTPRG	5793	broad.mit.edu	37	3	62253431	62253431	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:62253431G>T	ENST00000474889.1	+	19	3188	c.2811G>T	c.(2809-2811)agG>agT	p.R937S	PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.R908S|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	937	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R937S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATTTCTGGAGGATGATTTGGG	0.393																																					p.R937S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2811T	3						.						160.0	152.0	155.0					3																	62253431		2203	4300	6503	62228471	SO:0001583	missense	5793	exon19			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2811G>T	3.37:g.62253431G>T	ENSP00000418112:p.Arg937Ser		62228471	NM_002841	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088195	0.76642	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	D;D	0.84944	-1.92;-1.92	5.85	2.09	0.27110	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	D	0.91878	0.7429	M	0.88979	2.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.91334	0.5092	10	0.87932	D	0	.	9.0885	0.36596	0.3974:0.0:0.6026:0.0	.	183;908;937	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	S	937;908	ENSP00000418112:R937S;ENSP00000295874:R908S	ENSP00000295874:R908S	R	+	3	2	PTPRG	62228471	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.926000	0.40084	0.828000	0.34709	-0.137000	0.14449	AGG		0.393	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841	
FOXP1	27086	broad.mit.edu	37	3	71247474	71247474	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:71247474G>A	ENST00000318789.4	-	6	584	c.59C>T	c.(58-60)tCg>tTg	p.S20L	FOXP1_ENST00000318779.3_Missense_Mutation_p.S20L|FOXP1_ENST00000484350.1_Missense_Mutation_p.S20L|FOXP1_ENST00000468577.1_Missense_Mutation_p.S20L|FOXP1_ENST00000493089.1_Missense_Mutation_p.S20L|FOXP1_ENST00000475937.1_Missense_Mutation_p.S20L|FOXP1_ENST00000498215.1_Missense_Mutation_p.S20L	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	20					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S20L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GCTGCCGCCCGACCCATTCTG	0.582			T	PAX5	ALL																																p.S20L			Dom	yes		3	3p14.1	27086	forkhead box P1		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C59T	3						.						108.0	115.0	113.0					3																	71247474		2203	4300	6503	71330164	SO:0001583	missense	27086	exon6			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.59C>T	3.37:g.71247474G>A	ENSP00000318902:p.Ser20Leu		71330164	NM_032682	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	G	32	5.148475	0.94603	.	.	ENSG00000114861	ENST00000318789;ENST00000475937;ENST00000339693;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577;ENST00000318779	D;D;D;D;D;D;T	0.88354	-2.34;-2.34;-2.35;-2.34;-2.37;-2.15;0.84	5.77	5.77	0.91146	.	0.243172	0.34777	N	0.003699	D	0.90758	0.7099	N	0.22421	0.69	0.42401	D	0.992562	D;B;B;B;B	0.89917	1.0;0.021;0.016;0.027;0.009	D;B;B;B;B	0.67900	0.954;0.016;0.016;0.007;0.007	D	0.91034	0.4866	10	0.52906	T	0.07	.	20.3473	0.98799	0.0:0.0:1.0:0.0	.	20;20;20;20;20	Q9BSG9;A3KMG1;G5E9V8;Q8NAN6;Q9H334	.;.;.;.;FOXP1_HUMAN	L	20	ENSP00000318902:S20L;ENSP00000419393:S20L;ENSP00000418524:S20L;ENSP00000418102:S20L;ENSP00000417857:S20L;ENSP00000418883:S20L;ENSP00000318721:S20L	ENSP00000318721:S20L	S	-	2	0	FOXP1	71330164	1.000000	0.71417	0.976000	0.42696	0.984000	0.73092	4.841000	0.62824	2.884000	0.98904	0.655000	0.94253	TCG		0.582	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682	
CHMP2B	25978	broad.mit.edu	37	3	87295033	87295033	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:87295033C>T	ENST00000263780.4	+	3	534	c.296C>T	c.(295-297)gCt>gTt	p.A99V	CHMP2B_ENST00000494980.1_Intron|CHMP2B_ENST00000471660.1_Missense_Mutation_p.A58V|CHMP2B_ENST00000472024.1_3'UTR	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	99					cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)	p.A99V(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		ATGAAGATGGCTGGAGCAATG	0.318																																					p.A99V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C296T	3						.						79.0	84.0	83.0					3																	87295033		2203	4300	6503	87377723	SO:0001583	missense	25978	exon3			BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937		"""Charged multivesicular body proteins"""	24537	protein-coding gene	gene with protein product	"""VPS2 homolog B (S. cerevisiae)"""	609512	"""chromatin modifying protein 2B"""			11559748	Standard	NM_014043		Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000263780.4:c.296C>T	3.37:g.87295033C>T	ENSP00000263780:p.Ala99Val		87377723	NM_014043	B4DJG8|Q53HC7|Q9Y4U6	Missense_Mutation	SNP	ENST00000263780.4	37	CCDS2918.1	.	.	.	.	.	.	.	.	.	.	C	33	5.222960	0.95139	.	.	ENSG00000083937	ENST00000471660;ENST00000263780	T;T	0.71341	-0.56;-0.56	5.02	5.02	0.67125	.	0.102602	0.64402	D	0.000003	D	0.83087	0.5178	M	0.66378	2.025	0.80722	D	1	P;D	0.76494	0.875;0.999	P;D	0.87578	0.73;0.998	D	0.83633	0.0146	10	0.48119	T	0.1	-40.2443	18.3121	0.90204	0.0:1.0:0.0:0.0	.	58;99	B4DJG8;Q9UQN3	.;CHM2B_HUMAN	V	58;99	ENSP00000419998:A58V;ENSP00000263780:A99V	ENSP00000263780:A99V	A	+	2	0	CHMP2B	87377723	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.484000	0.81180	2.297000	0.77311	0.655000	0.94253	GCT		0.318	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352779.2	NM_014043	
CRYBG3	131544	broad.mit.edu	37	3	97596057	97596057	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:97596057C>A	ENST00000182096.4	+	1	239	c.175C>A	c.(175-177)Ctt>Att	p.L59I		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2007							carbohydrate binding (GO:0030246)	p.L59I(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						CGAAGAGCCCCTTCAAGAGGA	0.408																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	3						.						60.0	58.0	59.0					3																	97596057		1846	4112	5958	99078747	SO:0001583	missense	131544	.					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.175C>A	3.37:g.97596057C>A	ENSP00000182096:p.Leu59Ile		99078747	.	B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37		.	.	.	.	.	.	.	.	.	.	C	22.0	4.224263	0.79576	.	.	ENSG00000080200	ENST00000182096	D	0.81739	-1.53	5.6	5.6	0.85130	.	6.114210	0.00166	N	0.000001	D	0.88822	0.6541	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.74346	-0.3695	10	0.87932	D	0	.	17.8162	0.88635	0.0:1.0:0.0:0.0	.	59	Q68DQ2	CRBG3_HUMAN	I	59	ENSP00000182096:L59I	ENSP00000182096:L59I	L	+	1	0	CRYBG3	99078747	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.136000	0.50554	2.662000	0.90505	0.650000	0.86243	CTT		0.408	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605	
CLDND1	56650	broad.mit.edu	37	3	98235919	98235919	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:98235919G>A	ENST00000503004.1	-	4	1397	c.518C>T	c.(517-519)aCg>aTg	p.T173M	CLDND1_ENST00000394180.2_Missense_Mutation_p.T173M|CLDND1_ENST00000507874.1_Missense_Mutation_p.T173M|CLDND1_ENST00000437922.1_Missense_Mutation_p.T196M|CLDND1_ENST00000511081.1_Missense_Mutation_p.T78M|CLDND1_ENST00000394181.2_Missense_Mutation_p.T173M|CLDND1_ENST00000341181.6_Missense_Mutation_p.T173M|CLDND1_ENST00000508503.1_Intron|CLDND1_ENST00000394185.2_Missense_Mutation_p.T173M|CLDND1_ENST00000513287.1_Missense_Mutation_p.T173M|CLDND1_ENST00000502288.1_Missense_Mutation_p.T78M|CLDND1_ENST00000510545.1_Missense_Mutation_p.T173M			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	173						apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.T173M(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						GAGAATGCCCGTGGCAATGGT	0.423																																					p.T173M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C518T	3						.						145.0	140.0	142.0					3																	98235919		2203	4300	6503	99718609	SO:0001583	missense	56650	exon5			AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 4"""	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35		ENST00000503004.1:c.518C>T	3.37:g.98235919G>A	ENSP00000421226:p.Thr173Met		99718609	NM_019895	B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	Missense_Mutation	SNP	ENST00000503004.1	37	CCDS2930.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209499	0.58343	.	.	ENSG00000080822	ENST00000502288;ENST00000507874;ENST00000341181;ENST00000437922;ENST00000394180;ENST00000506885;ENST00000503004;ENST00000394185;ENST00000394181;ENST00000513873;ENST00000510545;ENST00000511081;ENST00000513287;ENST00000511667;ENST00000513452;ENST00000502299;ENST00000512147;ENST00000508902;ENST00000510541;ENST00000514537;ENST00000515620;ENST00000507944	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.71	4.83	0.62350	.	0.277360	0.39210	N	0.001434	T	0.65048	0.2654	M	0.68952	2.095	0.39819	D	0.972815	B;B;B;P	0.34780	0.3;0.049;0.443;0.468	B;B;B;B	0.22601	0.04;0.018;0.04;0.035	T	0.69815	-0.5043	10	0.72032	D	0.01	-11.1741	12.5945	0.56461	0.0806:0.0:0.9194:0.0	.	173;78;173;173	D6RCR8;F2Z2D9;Q9NY35;Q9NY35-2	.;.;CLDN1_HUMAN;.	M	78;173;173;196;173;126;173;173;173;29;173;78;173;151;173;173;58;173;58;173;173;173	ENSP00000422428:T173M;ENSP00000340247:T173M;ENSP00000388457:T196M;ENSP00000377734:T173M;ENSP00000422116:T126M;ENSP00000421226:T173M;ENSP00000377739:T173M;ENSP00000377735:T173M;ENSP00000426164:T29M;ENSP00000423590:T173M;ENSP00000424669:T78M;ENSP00000426869:T173M;ENSP00000423732:T151M;ENSP00000425539:T173M;ENSP00000420913:T173M;ENSP00000427119:T58M;ENSP00000421413:T173M;ENSP00000424484:T58M;ENSP00000423151:T173M;ENSP00000423093:T173M;ENSP00000425204:T173M	ENSP00000340247:T173M	T	-	2	0	CLDND1	99718609	1.000000	0.71417	0.875000	0.34327	0.990000	0.78478	4.602000	0.61098	1.413000	0.46997	0.655000	0.94253	ACG		0.423	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359071.1	NM_019895	
KALRN	8997	broad.mit.edu	37	3	124141677	124141677	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:124141677delA	ENST00000240874.3	+	15	2712	c.2555delA	c.(2554-2556)gaafs	p.E852fs	KALRN_ENST00000360013.3_Frame_Shift_Del_p.E852fs|KALRN_ENST00000460856.1_Frame_Shift_Del_p.E852fs	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	852					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D854fs*33(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTGATCTGTGAAAAAGACATT	0.393																																					p.E852fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.2555delA	3						.						65.0	65.0	65.0					3																	124141677		2203	4300	6503	125624367	SO:0001589	frameshift_variant	8997	exon15			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2555delA	3.37:g.124141677delA	ENSP00000240874:p.Glu852fs		125624367	NM_003947	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Frame_Shift_Del	DEL	ENST00000240874.3	37	CCDS3027.1																																																																																				0.393	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	
PLXNA1	5361	broad.mit.edu	37	3	126735391	126735391	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:126735391delC	ENST00000393409.2	+	15	3046	c.3046delC	c.(3046-3048)cccfs	p.P1017fs	PLXNA1_ENST00000251772.4_Frame_Shift_Del_p.P994fs	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1017	IPT/TIG 2.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.Q996fs*22(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GTGCCTGACACCCCCCGGGCA	0.627																																					p.P1016fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3046delC	3						.						80.0	86.0	84.0					3																	126735391		2203	4300	6503	128218081	SO:0001589	frameshift_variant	5361	exon15			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3046delC	3.37:g.126735391delC	ENSP00000377061:p.Pro1017fs		128218081	NM_032242		Frame_Shift_Del	DEL	ENST00000393409.2	37	CCDS33847.2																																																																																				0.627	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242	
SENP5	205564	broad.mit.edu	37	3	196626861	196626861	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr3:196626861C>T	ENST00000323460.5	+	4	1935	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	SENP5_ENST00000445299.2_Silent_p.I562I|SENP5_ENST00000419026.1_Silent_p.I52I	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	562					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.I562I(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		ACTTCCGTATCTTCTATAATA	0.373																																					p.I562I	Ovarian(47;891 1095 11174 13858 51271)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1686T	3						.						79.0	79.0	79.0					3																	196626861		2203	4300	6503	198111258	SO:0001819	synonymous_variant	205564	exon4			BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1686C>T	3.37:g.196626861C>T			198111258	NM_152699	B4DY82|Q96SA5	Silent	SNP	ENST00000323460.5	37	CCDS3322.1																																																																																				0.373	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699	
ADH5	128	broad.mit.edu	37	4	99996087	99996087	+	Silent	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:99996087T>C	ENST00000296412.8	-	7	989	c.939A>G	c.(937-939)acA>acG	p.T313T	ADH5_ENST00000512991.1_5'Flank	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide									p.T313T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		TGCCTTTCCATGTGCGACCTG	0.493																																					p.T313T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A939G	4						.						205.0	209.0	208.0					4																	99996087		2112	4240	6352	100215110	SO:0001819	synonymous_variant	128	exon7			M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"""Alcohol dehydrogenases"""	253	protein-coding gene	gene with protein product		103710	"""formaldehyde dehydrogenase"""	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.939A>G	4.37:g.99996087T>C			100215110	NM_000671		Silent	SNP	ENST00000296412.8	37	CCDS47111.1																																																																																				0.493	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364224.1	NM_000671	
SLC9B2	133308	broad.mit.edu	37	4	103964459	103964459	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:103964459G>A	ENST00000394785.3	-	9	1771	c.1140C>T	c.(1138-1140)agC>agT	p.S380S	SLC9B2_ENST00000503230.1_Silent_p.S323S|SLC9B2_ENST00000339611.4_Silent_p.S380S|SLC9B2_ENST00000503103.1_Silent_p.S323S|SLC9B2_ENST00000362026.3_Silent_p.S380S	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	380					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)	p.S380S(2)									TCACCTTTTCGCTGGTCCATC	0.418																																					p.S380S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1140T	4						.						100.0	85.0	90.0					4																	103964459		2203	4300	6503	104183908	SO:0001819	synonymous_variant	133308	exon9			AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.1140C>T	4.37:g.103964459G>A			104183908	NM_178833	B5ME52|Q6ZMD8|Q96D95	Silent	SNP	ENST00000394785.3	37	CCDS3662.1																																																																																				0.418	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833	
ELOVL6	79071	broad.mit.edu	37	4	111026731	111026731	+	Missense_Mutation	SNP	C	C	T	rs375332200		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:111026731C>T	ENST00000394607.3	-	3	306	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	ELOVL6_ENST00000506461.1_5'UTR|ELOVL6_ENST00000302274.3_Missense_Mutation_p.R48Q			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	48					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)	p.R48Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		CATTAGGTGCCGACCACCGAA	0.383																																					p.R48Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G143A	4						.	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	68.0	68.0	68.0		143,143	5.5	1.0	4		68	0,8600		0,0,4300	no	missense,missense	ELOVL6	NM_001130721.1,NM_024090.2	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	48/266,48/266	111026731	1,13005	2203	4300	6503	111246180	SO:0001583	missense	79071	exon3			AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"""ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"""			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.143G>A	4.37:g.111026731C>T	ENSP00000378105:p.Arg48Gln		111246180	NM_001130721	Q4W5L0|Q8NCD1	Missense_Mutation	SNP	ENST00000394607.3	37	CCDS3690.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413318	0.25465	2.27E-4	0.0	ENSG00000170522	ENST00000394607;ENST00000302274;ENST00000506625;ENST00000503885	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.51	5.51	0.81932	.	0.302313	0.36665	N	0.002479	T	0.09905	0.0243	N	0.02708	-0.52	0.58432	D	0.999997	B	0.15719	0.014	B	0.17722	0.019	T	0.15752	-1.0426	10	0.02654	T	1	-7.8173	19.8068	0.96534	0.0:1.0:0.0:0.0	.	48	Q9H5J4	ELOV6_HUMAN	Q	48	ENSP00000378105:R48Q;ENSP00000304736:R48Q;ENSP00000425488:R48Q;ENSP00000426086:R48Q	ENSP00000304736:R48Q	R	-	2	0	ELOVL6	111246180	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.715000	0.68430	2.764000	0.94973	0.655000	0.94253	CGG		0.383	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	NM_024090	
ANK2	287	broad.mit.edu	37	4	114275560	114275560	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:114275560C>T	ENST00000357077.4	+	38	5839	c.5786C>T	c.(5785-5787)tCg>tTg	p.S1929L	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S1896L|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1929	Repeat-rich region.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.S1929L(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCGCCAGTATCGCCTGGGAGA	0.522																																					p.S1929L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5786T	4						.						54.0	53.0	54.0					4																	114275560		2203	4300	6503	114495009	SO:0001583	missense	287	exon38			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5786C>T	4.37:g.114275560C>T	ENSP00000349588:p.Ser1929Leu		114495009	NM_001148	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065732	0.55539	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.69561	-0.4;-0.41	5.65	5.65	0.86999	.	0.000000	0.37761	N	0.001942	T	0.78559	0.4302	M	0.63843	1.955	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.76634	-0.2887	9	.	.	.	.	13.5718	0.61851	0.1556:0.8444:0.0:0.0	.	1896;1929	Q01484;Q01484-4	ANK2_HUMAN;.	L	1929;1896	ENSP00000349588:S1929L;ENSP00000264366:S1896L	.	S	+	2	0	ANK2	114495009	0.573000	0.26676	0.379000	0.26080	0.850000	0.48378	3.425000	0.52771	2.941000	0.99782	0.655000	0.94253	TCG		0.522	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
SEC24D	9871	broad.mit.edu	37	4	119660425	119660425	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:119660425C>T	ENST00000280551.6	-	18	2494	c.2256G>A	c.(2254-2256)acG>acA	p.T752T	SEC24D_ENST00000429811.2_Silent_p.T308T|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000419654.2_Silent_p.T308T|SEC24D_ENST00000379735.5_Silent_p.T753T|SEC24D_ENST00000511481.1_Silent_p.T383T			O94855	SC24D_HUMAN	SEC24 family member D	752					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.T752T(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CACTGATTGTCGTGTAAAGCA	0.398																																					p.T752T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2256A	4						.						184.0	164.0	171.0					4																	119660425		2203	4300	6503	119879873	SO:0001819	synonymous_variant	9871	exon18			AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.2256G>A	4.37:g.119660425C>T			119879873	NM_014822	Q8IYI7	Silent	SNP	ENST00000280551.6	37	CCDS3710.1																																																																																				0.398	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4		
ADAD1	132612	broad.mit.edu	37	4	123317445	123317445	+	Missense_Mutation	SNP	G	G	A	rs533027008		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:123317445G>A	ENST00000296513.2	+	7	822	c.637G>A	c.(637-639)Gtt>Att	p.V213I	ADAD1_ENST00000388724.2_Missense_Mutation_p.V213I|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Missense_Mutation_p.V195I	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	213					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.V213I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTCACAGATCGTTAAAGAAAG	0.308													G|||	1	0.000199681	0.0	0.0	5008	,	,		14972	0.0		0.0	False		,,,				2504	0.001				p.V213I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G637A	4						.						58.0	64.0	62.0					4																	123317445		2201	4289	6490	123536895	SO:0001583	missense	132612	exon7			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.637G>A	4.37:g.123317445G>A	ENSP00000296513:p.Val213Ile		123536895	NM_139243	A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175894	0.38413	.	.	ENSG00000164113	ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T	0.36520	1.25;1.25;1.26	6.05	5.1	0.69264	Adenosine deaminase/editase (1);	0.173472	0.50627	D	0.000108	T	0.17534	0.0421	N	0.05124	-0.11	0.42271	D	0.992059	B;B	0.21452	0.027;0.056	B;B	0.19946	0.027;0.005	T	0.07271	-1.0781	10	0.37606	T	0.19	-25.2401	8.272	0.31849	0.1912:0.0:0.8088:0.0	.	213;213	Q96M93-2;Q96M93	.;ADAD1_HUMAN	I	213;213;213;195	ENSP00000296513:V213I;ENSP00000373376:V213I;ENSP00000373377:V195I	ENSP00000296513:V213I	V	+	1	0	ADAD1	123536895	0.994000	0.37717	1.000000	0.80357	0.950000	0.60333	1.993000	0.40747	2.880000	0.98712	0.655000	0.94253	GTT		0.308	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243	
ANKRD50	57182	broad.mit.edu	37	4	125593026	125593026	+	Missense_Mutation	SNP	G	G	A	rs376403231		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:125593026G>A	ENST00000504087.1	-	4	2443	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	ANKRD50_ENST00000515641.1_Missense_Mutation_p.A290V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	469								p.A469V(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AGCTAACTCCGCTGTCTCTAA	0.393																																					p.A290V												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C869T	4						.	G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	110.0	110.0	110.0		869,1406	5.4	1.0	4		110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ANKRD50	NM_001167882.1,NM_020337.2	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	290/1251,469/1430	125593026	1,13005	2203	4300	6503	125812476	SO:0001583	missense	57182	exon3			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1406C>T	4.37:g.125593026G>A	ENSP00000425658:p.Ala469Val		125812476	NM_001167882	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	7.954	0.745498	0.15710	0.0	1.16E-4	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.66460	-0.21;-0.17	5.39	5.39	0.77823	.	0.124772	0.53938	D	0.000042	T	0.50939	0.1645	N	0.14661	0.345	0.32364	N	0.556755	B	0.12013	0.005	B	0.12156	0.007	T	0.47407	-0.9120	10	0.14252	T	0.57	.	19.3359	0.94319	0.0:0.0:1.0:0.0	.	469	Q9ULJ7	ANR50_HUMAN	V	469;290	ENSP00000425658:A469V;ENSP00000425355:A290V	ENSP00000425658:A469V	A	-	2	0	ANKRD50	125812476	1.000000	0.71417	0.986000	0.45419	0.841000	0.47740	4.721000	0.61951	2.809000	0.96659	0.555000	0.69702	GCG		0.393	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337	
FAT4	79633	broad.mit.edu	37	4	126238149	126238149	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:126238149G>T	ENST00000394329.3	+	1	596	c.583G>T	c.(583-585)Ggc>Tgc	p.G195C		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	195	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G195C(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAACCCGAGCGGCGAGGGAGC	0.647											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G195C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G583T	4						.						43.0	50.0	48.0					4																	126238149		2078	4203	6281	126457599	SO:0001583	missense	79633	exon1			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.583G>T	4.37:g.126238149G>T	ENSP00000377862:p.Gly195Cys	1548	126457599	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571885	0.65765	.	.	ENSG00000196159	ENST00000394329	T	0.78707	-1.2	5.41	5.41	0.78517	Cadherin (4);Cadherin-like (1);	0.000000	0.35067	U	0.003472	D	0.92564	0.7638	H	0.98980	4.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94616	0.7809	10	0.87932	D	0	.	12.5448	0.56193	0.0758:0.0:0.9242:0.0	.	195	Q6V0I7	FAT4_HUMAN	C	195	ENSP00000377862:G195C	ENSP00000377862:G195C	G	+	1	0	FAT4	126457599	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.662000	0.98603	2.523000	0.85059	0.655000	0.94253	GGC		0.647	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126239891	126239891	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:126239891C>T	ENST00000394329.3	+	1	2338	c.2325C>T	c.(2323-2325)aaC>aaT	p.N775N		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	775	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N775N(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATCTCCCAACCAGGCAATAG	0.443																																					p.N775N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2325T	4						.						128.0	117.0	120.0					4																	126239891		1948	4144	6092	126459341	SO:0001819	synonymous_variant	79633	exon1			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2325C>T	4.37:g.126239891C>T			126459341	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.443	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
NKX3-2	579	broad.mit.edu	37	4	13543759	13543759	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:13543759C>T	ENST00000382438.5	-	2	1495	c.860G>A	c.(859-861)cGc>cAc	p.R287H		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	287					determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.R287H(1)		breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CTGGTCGTCGCGCACCAGCAC	0.647																																					p.R287H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G860A	4						.						34.0	31.0	32.0					4																	13543759		2202	4300	6502	13152857	SO:0001583	missense	579	exon2			AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"""Homeoboxes / ANTP class : NKL subclass"""	951	protein-coding gene	gene with protein product		602183	"""bagpipe homeobox homolog 1 (Drosophila)"""	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.860G>A	4.37:g.13543759C>T	ENSP00000371875:p.Arg287His		13152857	NM_001189	Q2M2I7	Missense_Mutation	SNP	ENST00000382438.5	37	CCDS3410.1	.	.	.	.	.	.	.	.	.	.	C	35	5.578926	0.96565	.	.	ENSG00000109705	ENST00000382438	D	0.91996	-2.95	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.95214	0.8448	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.93945	0.7227	10	0.30854	T	0.27	.	18.1717	0.89747	0.0:1.0:0.0:0.0	.	287	P78367	NKX32_HUMAN	H	287	ENSP00000371875:R287H	ENSP00000371875:R287H	R	-	2	0	NKX3-2	13152857	0.997000	0.39634	1.000000	0.80357	0.990000	0.78478	7.282000	0.78630	2.408000	0.81797	0.561000	0.74099	CGC		0.647	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207317.3		
FAT4	79633	broad.mit.edu	37	4	126412535	126412535	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:126412535T>C	ENST00000394329.3	+	17	14571	c.14558T>C	c.(14557-14559)aTg>aCg	p.M4853T	FAT4_ENST00000335110.5_Missense_Mutation_p.M3094T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4853					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.M4853T(1)|p.M4796T(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						TGCTCAGAAATGGAATATGAC	0.428																																					p.M4853T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T14558C	4						.						69.0	69.0	69.0					4																	126412535		2203	4300	6503	126631985	SO:0001583	missense	79633	exon17			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.14558T>C	4.37:g.126412535T>C	ENSP00000377862:p.Met4853Thr		126631985	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	13.05	2.122493	0.37436	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.76839	-0.84;-1.05	5.19	5.19	0.71726	.	0.000000	0.41396	U	0.000885	T	0.81898	0.4920	L	0.57536	1.79	0.54753	D	0.999987	D;D;D	0.56968	0.978;0.963;0.978	P;P;P	0.53861	0.736;0.549;0.736	D	0.84164	0.0430	10	0.72032	D	0.01	.	14.2603	0.66080	0.0:0.0:0.0:1.0	.	3094;4853;4852	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	T	4853;3094	ENSP00000377862:M4853T;ENSP00000335169:M3094T	ENSP00000335169:M3094T	M	+	2	0	FAT4	126631985	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.550000	0.82173	1.965000	0.57142	0.402000	0.26972	ATG		0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
PCDH10	57575	broad.mit.edu	37	4	134072099	134072099	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:134072099C>T	ENST00000264360.5	+	1	1630	c.804C>T	c.(802-804)ctC>ctT	p.L268L	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	268	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L268L(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)		CAGGCACTCTCGTGATCCAGC	0.607																																					p.L268L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C804T	4						.						87.0	86.0	86.0					4																	134072099		2203	4300	6503	134291549	SO:0001819	synonymous_variant	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.804C>T	4.37:g.134072099C>T			134291549	NM_032961	Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	CCDS34063.1																																																																																				0.607	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
SMAD1	4086	broad.mit.edu	37	4	146468035	146468035	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:146468035G>A	ENST00000515385.1	+	5	1498	c.956G>A	c.(955-957)cGg>cAg	p.R319Q	SMAD1_ENST00000394092.2_Missense_Mutation_p.R319Q|SMAD1_ENST00000302085.4_Missense_Mutation_p.R319Q			Q15797	SMAD1_HUMAN	SMAD family member 1	319	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)	p.R319Q(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					AATGTTAACCGGAATTCCACT	0.458																																					p.R319Q	Pancreas(182;1287 2092 10326 35158 50562)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G956A	4						.						115.0	114.0	115.0					4																	146468035		2203	4300	6503	146687485	SO:0001583	missense	4086	exon5			U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.956G>A	4.37:g.146468035G>A	ENSP00000426568:p.Arg319Gln		146687485	NM_001003688	A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Missense_Mutation	SNP	ENST00000515385.1	37	CCDS3765.1	.	.	.	.	.	.	.	.	.	.	G	36	5.733755	0.96865	.	.	ENSG00000170365	ENST00000302085;ENST00000394092;ENST00000515385	D;D;D	0.98296	-4.85;-4.85;-4.85	5.96	5.96	0.96718	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98963	0.9647	H	0.95402	3.665	0.80722	D	1	D	0.60160	0.987	P	0.49922	0.626	D	0.99797	1.1034	10	0.87932	D	0	.	20.394	0.98981	0.0:0.0:1.0:0.0	.	319	Q15797	SMAD1_HUMAN	Q	319	ENSP00000305769:R319Q;ENSP00000377652:R319Q;ENSP00000426568:R319Q	ENSP00000305769:R319Q	R	+	2	0	SMAD1	146687485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.830000	0.97506	0.585000	0.79938	CGG		0.458	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1	NM_005900	
POU4F2	5458	broad.mit.edu	37	4	147561481	147561481	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:147561481G>A	ENST00000281321.3	+	2	999	c.751G>A	c.(751-753)Gtg>Atg	p.V251M	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	251	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.V251M(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CATGAGCGACGTGGACGCCGA	0.692																																					p.V251M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G751A	4						.						17.0	19.0	18.0					4																	147561481		2197	4298	6495	147780931	SO:0001583	missense	5458	exon2			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.751G>A	4.37:g.147561481G>A	ENSP00000281321:p.Val251Met		147780931	NM_004575	B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606609	0.46527	.	.	ENSG00000151615	ENST00000281321	T	0.69175	-0.38	5.42	5.42	0.78866	POU-specific (2);	0.273464	0.36932	N	0.002331	T	0.50582	0.1624	N	0.08118	0	0.80722	D	1	P	0.47350	0.894	B	0.41917	0.37	T	0.55108	-0.8192	10	0.33141	T	0.24	.	18.841	0.92184	0.0:0.0:1.0:0.0	.	251	Q12837	PO4F2_HUMAN	M	251	ENSP00000281321:V251M	ENSP00000281321:V251M	V	+	1	0	POU4F2	147780931	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.635000	0.67841	2.561000	0.86390	0.462000	0.41574	GTG		0.692	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575	
FBXW7	55294	broad.mit.edu	37	4	153244184	153244184	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:153244184C>T	ENST00000281708.4	-	12	3202	c.1973G>A	c.(1972-1974)cGa>cAa	p.R658Q	FBXW7_ENST00000393956.3_Missense_Mutation_p.R482Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R578Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R658Q|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000296555.5_Missense_Mutation_p.R540Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R658Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	658					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.R658Q(2)|p.R419Q(1)|p.R578Q(1)|p.?(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)				GACTAGGTTTCGAATAAATTC	0.473			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																p.R578Q			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	FBXW7,endometrium,NS,Substitution - Nonsense,-1 	.	5	Substitution - Missense(4)|Unknown(1)	large_intestine(4)|haematopoietic_and_lymphoid_tissue(1)	c.G1733A	4						.						166.0	164.0	165.0					4																	153244184		2203	4300	6503	153463634	SO:0001583	missense	55294	exon11			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.1973G>A	4.37:g.153244184C>T	ENSP00000281708:p.Arg658Gln		153463634	NM_018315	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479047	0.63849	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.45155	0.1328	M	0.74546	2.27	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.986;0.993;0.996;0.996	T	0.16188	-1.0411	10	0.40728	T	0.16	-10.7715	19.7667	0.96346	0.0:1.0:0.0:0.0	.	482;658;540;578	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Q	658;540;578;482	ENSP00000281708:R658Q;ENSP00000296555:R540Q;ENSP00000263981:R578Q;ENSP00000377528:R482Q	ENSP00000263981:R578Q	R	-	2	0	FBXW7	153463634	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.762000	0.85270	2.681000	0.91329	0.655000	0.94253	CGA		0.473	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
KIAA0922	23240	broad.mit.edu	37	4	154517447	154517447	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:154517447A>G	ENST00000409663.3	+	20	2082	c.2030A>G	c.(2029-2031)cAc>cGc	p.H677R	KIAA0922_ENST00000440693.1_Missense_Mutation_p.H594R|KIAA0922_ENST00000409959.3_Missense_Mutation_p.H678R	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	677						integral component of membrane (GO:0016021)		p.H530R(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GGCATCCTCCACTTACATCTG	0.423																																					p.H677R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2030G	4						.						208.0	182.0	191.0					4																	154517447		2203	4300	6503	154736897	SO:0001583	missense	23240	exon20			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2030A>G	4.37:g.154517447A>G	ENSP00000386574:p.His677Arg		154736897	NM_015196	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	A	4.970	0.180251	0.09443	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.16324	2.64;2.35;2.64;2.36	5.56	4.34	0.51931	.	0.239410	0.46145	D	0.000306	T	0.10208	0.0250	N	0.21194	0.64	0.31200	N	0.699894	B;B;B	0.21452	0.056;0.008;0.002	B;B;B	0.16722	0.016;0.01;0.003	T	0.20739	-1.0266	10	0.08837	T	0.75	-12.9742	10.8607	0.46825	0.8585:0.0:0.0:0.1415	.	594;678;677	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	R	677;594;678;455	ENSP00000386574:H677R;ENSP00000409663:H594R;ENSP00000386787:H678R;ENSP00000240487:H455R	ENSP00000240487:H455R	H	+	2	0	KIAA0922	154736897	0.951000	0.32395	0.975000	0.42487	0.576000	0.36127	2.195000	0.42677	0.896000	0.36366	0.482000	0.46254	CAC		0.423	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	
DCHS2	54798	broad.mit.edu	37	4	155155875	155155875	+	Missense_Mutation	SNP	C	C	T	rs376262021		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:155155875C>T	ENST00000357232.4	-	25	8563	c.8564G>A	c.(8563-8565)cGc>cAc	p.R2855H		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2855					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R2855H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GATGGGAGAGCGTGGGTGTTT	0.547																																					p.R2855H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8564A	4						.	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	133.0	130.0	131.0		8564	3.9	1.0	4		131	0,8600		0,0,4300	no	missense	DCHS2	NM_017639.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	2855/2917	155155875	1,13005	2203	4300	6503	155375325	SO:0001583	missense	54798	exon25			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8564G>A	4.37:g.155155875C>T	ENSP00000349768:p.Arg2855His		155375325	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009695	0.35415	2.27E-4	0.0	ENSG00000197410	ENST00000357232	T	0.64438	-0.1	5.93	3.9	0.45041	.	0.312733	0.31301	N	0.007893	T	0.40595	0.1123	N	0.12569	0.235	0.80722	D	1	B	0.22211	0.066	B	0.09377	0.004	T	0.16041	-1.0416	10	0.44086	T	0.13	.	8.9857	0.35992	0.0:0.7322:0.0:0.2678	.	2855	Q6V1P9	PCD23_HUMAN	H	2855	ENSP00000349768:R2855H	ENSP00000349768:R2855H	R	-	2	0	DCHS2	155375325	0.006000	0.16342	0.968000	0.41197	0.747000	0.42532	0.531000	0.23052	0.570000	0.29347	0.655000	0.94253	CGC		0.547	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
DCHS2	54798	broad.mit.edu	37	4	155254578	155254578	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:155254578G>A	ENST00000357232.4	-	9	1284	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	DCHS2_ENST00000339452.1_Missense_Mutation_p.R928W|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	429	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R429W(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTGCCCAGCCGCGGGTGAATG	0.587																																					p.R928W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2782T	4						.						33.0	38.0	36.0					4																	155254578		2203	4300	6503	155474028	SO:0001583	missense	54798	exon5			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1285C>T	4.37:g.155254578G>A	ENSP00000349768:p.Arg429Trp		155474028	NM_001142552	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682699	0.47991	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.53206	0.63;0.63	5.78	1.79	0.24919	Cadherin (4);Cadherin-like (1);	0.612879	0.14880	N	0.293045	T	0.33614	0.0869	L	0.43701	1.375	0.47547	D	0.999457	B;B	0.09022	0.0;0.002	B;B	0.06405	0.0;0.002	T	0.34601	-0.9822	10	0.54805	T	0.06	.	2.6559	0.05012	0.4376:0.0:0.3406:0.2217	.	928;429	E9PC11;Q6V1P9	.;PCD23_HUMAN	W	429;928;928	ENSP00000349768:R429W;ENSP00000345062:R928W	ENSP00000345062:R928W	R	-	1	2	DCHS2	155474028	0.988000	0.35896	0.846000	0.33378	0.965000	0.64279	2.242000	0.43106	1.011000	0.39340	-0.414000	0.06135	CGG		0.587	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
TDO2	6999	broad.mit.edu	37	4	156826238	156826238	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:156826238C>T	ENST00000536354.2	+	3	225	c.161C>T	c.(160-162)gCa>gTa	p.A54V		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase									p.A54V(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		GTTTTGAATGCACAAGAACTG	0.294																																					p.A54V	Colon(57;928 1036 2595 6946 26094)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C161T	4						.						60.0	59.0	59.0					4																	156826238		2202	4295	6497	157045688	SO:0001583	missense	6999	exon3				CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.161C>T	4.37:g.156826238C>T	ENSP00000444788:p.Ala54Val		157045688	NM_005651		Missense_Mutation	SNP	ENST00000536354.2	37	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.877049	0.91664	.	.	ENSG00000151790	ENST00000536354	.	.	.	5.83	5.83	0.93111	.	0.148242	0.64402	D	0.000013	T	0.81842	0.4908	M	0.90145	3.09	0.80722	D	1	P	0.42649	0.786	P	0.49799	0.622	D	0.84157	0.0426	9	0.62326	D	0.03	-22.618	20.1356	0.98028	0.0:1.0:0.0:0.0	.	54	P48775	T23O_HUMAN	V	54	.	ENSP00000281525:A54V	A	+	2	0	TDO2	157045688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.713000	0.68415	2.755000	0.94549	0.650000	0.86243	GCA		0.294	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651	
TKTL2	84076	broad.mit.edu	37	4	164393673	164393673	+	Missense_Mutation	SNP	C	C	T	rs115895686		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:164393673C>T	ENST00000280605.3	-	1	1374	c.1214G>A	c.(1213-1215)cGa>cAa	p.R405Q		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	405						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.R405Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGCTCCCATTCGGAGCTGATC	0.493																																					p.R405Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1214A	4						.	C	GLN/ARG	0,4406		0,0,2203	42.0	44.0	43.0		1214	1.6	0.6	4	dbSNP_132	43	1,8599	1.2+/-3.3	0,1,4299	no	missense	TKTL2	NM_032136.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	405/627	164393673	1,13005	2203	4300	6503	164613123	SO:0001583	missense	84076	exon1			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1214G>A	4.37:g.164393673C>T	ENSP00000280605:p.Arg405Gln		164613123	NM_032136	A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.811901	0.70797	0.0	1.16E-4	ENSG00000151005	ENST00000280605	T	0.50277	0.75	4.44	1.62	0.23740	Transketolase-like, pyrimidine-binding domain (2);	0.138899	0.48286	N	0.000194	T	0.65923	0.2738	M	0.93638	3.44	0.54753	D	0.999988	D	0.67145	0.996	P	0.55785	0.784	T	0.68739	-0.5329	10	0.66056	D	0.02	-1.4937	7.9702	0.30124	0.0:0.6055:0.3057:0.0888	.	405	Q9H0I9	TKTL2_HUMAN	Q	405	ENSP00000280605:R405Q	ENSP00000280605:R405Q	R	-	2	0	TKTL2	164613123	0.998000	0.40836	0.593000	0.28771	0.997000	0.91878	3.708000	0.54845	0.332000	0.23536	0.655000	0.94253	CGA		0.493	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136	
LETM1	3954	broad.mit.edu	37	4	1843106	1843106	+	Missense_Mutation	SNP	C	C	T	rs369353049		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:1843106C>T	ENST00000302787.2	-	3	858	c.562G>A	c.(562-564)Ggc>Agc	p.G188S		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	188	LETM1.				cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.G188S(1)		breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			AGGCTGTGGCCGTTGAGGATG	0.602																																					p.G188S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G562A	4						.						37.0	33.0	35.0					4																	1843106		2203	4300	6503	1812904	SO:0001583	missense	3954	exon3			AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.562G>A	4.37:g.1843106C>T	ENSP00000305653:p.Gly188Ser		1812904	NM_012318	B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004020	0.93287	.	.	ENSG00000168924	ENST00000302787;ENST00000417150	T	0.50277	0.75	4.62	4.62	0.57501	LETM1-like (1);	0.000000	0.85682	D	0.000000	T	0.73016	0.3533	M	0.92367	3.3	0.80722	D	1	D;D	0.76494	0.999;0.997	P;P	0.59221	0.854;0.705	T	0.81996	-0.0676	10	0.87932	D	0	-39.6982	17.6561	0.88178	0.0:1.0:0.0:0.0	.	188;188	O95202-3;O95202	.;LETM1_HUMAN	S	188;148	ENSP00000305653:G188S	ENSP00000305653:G188S	G	-	1	0	LETM1	1812904	1.000000	0.71417	0.998000	0.56505	0.738000	0.42128	7.512000	0.81728	2.412000	0.81896	0.467000	0.42956	GGC		0.602	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1		
GLRA3	8001	broad.mit.edu	37	4	175749941	175749941	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:175749941G>A	ENST00000274093.3	-	1	524	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W	GLRA3_ENST00000340217.5_Missense_Mutation_p.R8W	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	8					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.R8W(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	ACTAATGTCCGAAAGTGTCTC	0.438																																					p.R8W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C22T	4						.						123.0	112.0	116.0					4																	175749941		2203	4300	6503	175986516	SO:0001583	missense	8001	exon1			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.22C>T	4.37:g.175749941G>A	ENSP00000274093:p.Arg8Trp		175986516	NM_001042543	D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983055	0.53827	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	T;T	0.69685	-0.3;-0.42	5.23	4.38	0.52667	.	0.129880	0.34725	N	0.003734	T	0.62998	0.2474	N	0.08118	0	0.31351	N	0.682492	D;D	0.67145	0.996;0.994	D;D	0.69307	0.963;0.919	T	0.68394	-0.5420	10	0.62326	D	0.03	.	10.8911	0.46996	0.0:0.0:0.8125:0.1875	.	8;8	O75311-2;O75311	.;GLRA3_HUMAN	W	8	ENSP00000274093:R8W;ENSP00000345284:R8W	ENSP00000274093:R8W	R	-	1	2	GLRA3	175986516	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.174000	0.50847	1.385000	0.46445	0.655000	0.94253	CGG		0.438	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1		
TENM3	55714	broad.mit.edu	37	4	183713901	183713901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:183713901C>T	ENST00000511685.1	+	26	6199	c.6076C>T	c.(6076-6078)Cga>Tga	p.R2026*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.R2026*			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2026					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R2026*(1)									CAACAGCTTTCGAGTGACCAG	0.428																																					p.R2026X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6076T	4						.						164.0	162.0	162.0					4																	183713901		2010	4188	6198	183950895	SO:0001587	stop_gained	55714	exon25			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6076C>T	4.37:g.183713901C>T	ENSP00000424226:p.Arg2026*		183950895	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Nonsense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	45	11.955258	0.99621	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	.	.	.	5.13	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0924	0.59172	0.2209:0.7791:0.0:0.0	.	.	.	.	X	2026	.	ENSP00000385276:R2026X	R	+	1	2	ODZ3	183950895	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.343000	0.44001	2.655000	0.90218	0.655000	0.94253	CGA		0.428	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
ACSL1	2180	broad.mit.edu	37	4	185709846	185709846	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:185709846C>T	ENST00000515030.1	-	3	560	c.235G>A	c.(235-237)Gac>Aac	p.D79N	ACSL1_ENST00000437665.3_5'UTR|ACSL1_ENST00000513317.1_Missense_Mutation_p.D79N|ACSL1_ENST00000504342.1_Missense_Mutation_p.D79N|ACSL1_ENST00000281455.2_Missense_Mutation_p.D79N|ACSL1_ENST00000507295.1_Missense_Mutation_p.D79N|ACSL1_ENST00000504900.1_Missense_Mutation_p.D79N|ACSL1_ENST00000454703.2_5'UTR			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	79					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.D79N(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AAGGGCTCGTCGCTGTCAAGT	0.463																																					p.D79N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G235A	4						.						123.0	108.0	113.0					4																	185709846		2203	4300	6503	185946840	SO:0001583	missense	2180	exon3			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.235G>A	4.37:g.185709846C>T	ENSP00000422607:p.Asp79Asn		185946840	NM_001995	B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.734257	0.48939	.	.	ENSG00000151726	ENST00000515030;ENST00000281455;ENST00000507295;ENST00000504342;ENST00000513317;ENST00000504900	T;T;T;T;T;T	0.21543	2.08;2.08;2.0;2.08;2.01;2.22	5.57	5.57	0.84162	.	0.043830	0.85682	D	0.000000	T	0.33000	0.0848	L	0.39633	1.23	0.80722	D	1	B;B;D;B	0.61697	0.003;0.007;0.99;0.003	B;B;P;B	0.56343	0.004;0.006;0.796;0.006	T	0.00496	-1.1705	10	0.25106	T	0.35	-24.1844	19.513	0.95151	0.0:1.0:0.0:0.0	.	79;79;79;79	E7EPM6;B7Z452;D6RER0;P33121	.;.;.;ACSL1_HUMAN	N	79	ENSP00000422607:D79N;ENSP00000281455:D79N;ENSP00000426244:D79N;ENSP00000425006:D79N;ENSP00000426150:D79N;ENSP00000424935:D79N	ENSP00000281455:D79N	D	-	1	0	ACSL1	185946840	0.929000	0.31497	0.101000	0.21167	0.378000	0.30076	2.906000	0.48735	2.785000	0.95823	0.591000	0.81541	GAC		0.463	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995	
LRP2BP	55805	broad.mit.edu	37	4	186296770	186296770	+	Silent	SNP	G	G	A	rs148329514	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:186296770G>A	ENST00000328559.7	-	3	1138	c.327C>T	c.(325-327)gaC>gaT	p.D109D	LRP2BP_ENST00000510776.1_Silent_p.D83D|LRP2BP_ENST00000362004.3_Silent_p.D111D|LRP2BP_ENST00000505916.1_Silent_p.D109D|RP11-714G18.1_ENST00000514884.1_RNA	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	109						cytoplasm (GO:0005737)		p.D109D(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		AACTTACAGCGTCTAGAGTGG	0.348													G|||	2	0.000399361	0.0008	0.0	5008	,	,		10274	0.001		0.0	False		,,,				2504	0.0				p.D109D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C327T	4						.	G		2,4404	4.2+/-10.8	0,2,2201	160.0	129.0	139.0		327	-10.2	0.0	4	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRP2BP	NM_018409.3		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		109/348	186296770	3,13003	2203	4300	6503	186533764	SO:0001819	synonymous_variant	55805	exon3			AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.327C>T	4.37:g.186296770G>A			186533764	NM_018409	A6NJR7|A7E219|B3KX83|Q9NSN6	Silent	SNP	ENST00000328559.7	37	CCDS3840.1																																																																																				0.348	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2	NM_018409	
PCGF3	10336	broad.mit.edu	37	4	727506	727506	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:727506G>A	ENST00000362003.5	+	4	432	c.37G>A	c.(37-39)Gcc>Acc	p.A13T	PCGF3_ENST00000482726.1_3'UTR|PCGF3_ENST00000521023.2_5'UTR|PCGF3_ENST00000505655.2_Missense_Mutation_p.A13T|PCGF3_ENST00000400151.2_Missense_Mutation_p.A13T|PCGF3_ENST00000470161.2_Missense_Mutation_p.A13T	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	13					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)	p.A13T(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						GGACATCAACGCCCACATCAC	0.562																																					p.A13T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G37A	4						.						80.0	90.0	86.0					4																	727506		2170	4250	6420	717506	SO:0001583	missense	10336	exon4			AK093869	CCDS3339.2	4p16.3	2013-01-09	2005-01-17	2005-01-19	ENSG00000185619	ENSG00000185619		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	10066	protein-coding gene	gene with protein product			"""ring finger protein 3"""	RNF3			Standard	XM_005272250		Approved	FLJ36550, DONG1, RNF3A, MGC40413	uc003gbe.3	Q3KNV8	OTTHUMG00000119000	ENST00000362003.5:c.37G>A	4.37:g.727506G>A	ENSP00000354724:p.Ala13Thr		717506	NM_006315	D3DVN1|O15262	Missense_Mutation	SNP	ENST00000362003.5	37	CCDS3339.2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437215	0.83885	.	.	ENSG00000185619	ENST00000419774;ENST00000362003;ENST00000427463;ENST00000470161;ENST00000400151;ENST00000433814;ENST00000505655	T;T;T;T;T;T;T	0.67345	0.84;0.93;-0.26;0.93;0.87;0.92;0.93	5.22	5.22	0.72569	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.50017	0.1591	N	0.25485	0.75	0.80722	D	1	P	0.42375	0.778	B	0.28709	0.093	T	0.59931	-0.7361	10	0.59425	D	0.04	-31.8936	16.6341	0.85042	0.0:0.0:1.0:0.0	.	13	Q3KNV8	PCGF3_HUMAN	T	13	ENSP00000416279:A13T;ENSP00000354724:A13T;ENSP00000401431:A13T;ENSP00000420489:A13T;ENSP00000383015:A13T;ENSP00000398493:A13T;ENSP00000423393:A13T	ENSP00000354724:A13T	A	+	1	0	PCGF3	717506	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.975000	0.76128	2.598000	0.87819	0.655000	0.94253	GCC		0.562	PCGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239197.2	NM_006315	
PCGF3	10336	broad.mit.edu	37	4	728799	728799	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:728799delC	ENST00000362003.5	+	5	584	c.189delC	c.(187-189)cacfs	p.H63fs	PCGF3_ENST00000521023.2_Frame_Shift_Del_p.H29fs|PCGF3_ENST00000505655.2_Frame_Shift_Del_p.H63fs|PCGF3_ENST00000470161.2_Frame_Shift_Del_p.H63fs	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	63					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)	p.L65fs*26(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						ACCAGAGCCACCCCCTGCAGT	0.607																																					p.H63fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.189delC	4						.						46.0	54.0	51.0					4																	728799		2013	4174	6187	718799	SO:0001589	frameshift_variant	10336	exon5			AK093869	CCDS3339.2	4p16.3	2013-01-09	2005-01-17	2005-01-19	ENSG00000185619	ENSG00000185619		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	10066	protein-coding gene	gene with protein product			"""ring finger protein 3"""	RNF3			Standard	XM_005272250		Approved	FLJ36550, DONG1, RNF3A, MGC40413	uc003gbe.3	Q3KNV8	OTTHUMG00000119000	ENST00000362003.5:c.189delC	4.37:g.728799delC	ENSP00000354724:p.His63fs		718799	NM_006315	D3DVN1|O15262	Frame_Shift_Del	DEL	ENST00000362003.5	37	CCDS3339.2																																																																																				0.607	PCGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239197.2	NM_006315	
WHSC1	7468	broad.mit.edu	37	4	1940200	1940200	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:1940200C>T	ENST00000382895.3	+	10	2128	c.1697C>T	c.(1696-1698)aCg>aTg	p.T566M	WHSC1_ENST00000514045.1_Missense_Mutation_p.T566M|WHSC1_ENST00000382891.5_Missense_Mutation_p.T566M|WHSC1_ENST00000503128.1_Missense_Mutation_p.T566M|WHSC1_ENST00000398261.1_Missense_Mutation_p.T566M|WHSC1_ENST00000420906.2_Missense_Mutation_p.T566M|WHSC1_ENST00000508803.1_Missense_Mutation_p.T566M|WHSC1_ENST00000382892.2_Missense_Mutation_p.T566M	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	566					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.T566M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		ACTGACAAAACGGCCAGAACA	0.378			T	IGH@	MM																																p.T566M			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1697T	4						.						65.0	58.0	61.0					4																	1940200		2203	4300	6503	1909998	SO:0001583	missense	7468	exon9			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1697C>T	4.37:g.1940200C>T	ENSP00000372351:p.Thr566Met		1909998	NM_133331	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017308	0.35606	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000398261	D;T;D;D;T;D;T;T	0.95171	-3.63;1.14;-3.63;-3.63;1.14;-3.63;1.13;1.13	5.37	3.39	0.38822	.	0.420327	0.20385	N	0.093369	D	0.89643	0.6774	L	0.34521	1.04	0.80722	D	1	B;B;B	0.23591	0.088;0.024;0.088	B;B;B	0.24269	0.052;0.004;0.052	D	0.84349	0.0531	10	0.56958	D	0.05	.	8.7343	0.34519	0.0:0.7998:0.0:0.2002	.	566;566;566	O96028-3;O96028;O96028-5	.;NSD2_HUMAN;.	M	566	ENSP00000423972:T566M;ENSP00000421681:T566M;ENSP00000372347:T566M;ENSP00000372348:T566M;ENSP00000399251:T566M;ENSP00000372351:T566M;ENSP00000425761:T566M;ENSP00000381311:T566M	ENSP00000308780:T566M	T	+	2	0	WHSC1	1909998	0.444000	0.25649	0.480000	0.27341	0.996000	0.88848	0.971000	0.29396	0.574000	0.29417	0.650000	0.86243	ACG		0.378	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330	
TNIP2	79155	broad.mit.edu	37	4	2749534	2749534	+	Missense_Mutation	SNP	C	C	T	rs545493843		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:2749534C>T	ENST00000315423.7	-	2	501	c.415G>A	c.(415-417)Gcc>Acc	p.A139T	TNIP2_ENST00000505186.1_5'Flank|TNIP2_ENST00000503235.1_Missense_Mutation_p.A139T|TNIP2_ENST00000510267.1_Missense_Mutation_p.A32T	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2									p.A139T(2)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACGTCACTGGCGGCCCGGGCG	0.657													c|||	1	0.000199681	0.0	0.0	5008	,	,		15662	0.0		0.0	False		,,,				2504	0.001				p.A139T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G415A	4						.						96.0	94.0	95.0					4																	2749534		2203	4300	6503	2719332	SO:0001583	missense	79155	exon2			BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.415G>A	4.37:g.2749534C>T	ENSP00000321203:p.Ala139Thr		2719332	NM_024309		Missense_Mutation	SNP	ENST00000315423.7	37	CCDS3362.1	.	.	.	.	.	.	.	.	.	.	c	6.971	0.549043	0.13312	.	.	ENSG00000168884	ENST00000510267;ENST00000315423;ENST00000503235	T;T;T	0.28454	1.61;1.71;1.75	3.81	2.43	0.29744	.	0.196706	0.42548	D	0.000683	T	0.11239	0.0274	N	0.17345	0.48	0.30654	N	0.755072	P;B	0.36354	0.549;0.2	B;B	0.29176	0.099;0.019	T	0.13388	-1.0511	10	0.07990	T	0.79	-10.2482	4.1522	0.10244	0.0:0.5588:0.0:0.4412	.	139;139	D6RGJ2;Q8NFZ5	.;TNIP2_HUMAN	T	32;139;139	ENSP00000427613:A32T;ENSP00000321203:A139T;ENSP00000426314:A139T	ENSP00000321203:A139T	A	-	1	0	TNIP2	2719332	1.000000	0.71417	0.143000	0.22291	0.719000	0.41307	2.535000	0.45685	0.962000	0.38057	0.550000	0.68814	GCC		0.657	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309	
DOK7	285489	broad.mit.edu	37	4	3475289	3475289	+	Missense_Mutation	SNP	C	C	A	rs575986565	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:3475289C>A	ENST00000340083.5	+	3	322	c.257C>A	c.(256-258)gCc>gAc	p.A86D	DOK7_ENST00000507039.1_Missense_Mutation_p.A86D|DOK7_ENST00000389653.2_Missense_Mutation_p.A86D	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	86	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)	p.A86D(1)		kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTGTCCCAGGCCATCATGCTG	0.692																																					p.A86D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C257A	4						.						26.0	31.0	29.0					4																	3475289		2084	4203	6287	3445087	SO:0001583	missense	285489	exon3			AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"""chromosome 4 open reading frame 25"""	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.257C>A	4.37:g.3475289C>A	ENSP00000344432:p.Ala86Asp		3445087	NM_001164673	A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Missense_Mutation	SNP	ENST00000340083.5	37	CCDS3370.2	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143069	0.57044	.	.	ENSG00000175920	ENST00000389653;ENST00000507039;ENST00000340083	T;T;T	0.81163	-1.46;-1.46;-1.46	3.7	3.7	0.42460	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.374835	0.27227	N	0.020337	T	0.64338	0.2589	L	0.29908	0.895	0.28281	N	0.923998	P	0.37594	0.601	B	0.31946	0.138	T	0.63967	-0.6517	10	0.72032	D	0.01	-2.4131	5.1153	0.14831	0.0:0.7546:0.0:0.2454	.	86	Q18PE1	DOK7_HUMAN	D	86	ENSP00000374304:A86D;ENSP00000423614:A86D;ENSP00000344432:A86D	ENSP00000344432:A86D	A	+	2	0	DOK7	3445087	0.987000	0.35691	0.984000	0.44739	0.658000	0.38924	2.514000	0.45503	1.911000	0.55334	0.491000	0.48974	GCC		0.692	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660	
TBC1D14	57533	broad.mit.edu	37	4	6925431	6925431	+	Silent	SNP	C	C	T	rs572204539		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:6925431C>T	ENST00000409757.4	+	2	439	c.315C>T	c.(313-315)tgC>tgT	p.C105C	TBC1D14_ENST00000448507.1_Silent_p.C105C	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	105					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)	p.C90C(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						AGAGCGCCTGCGCGCTGCCAT	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		18048	0.0		0.0	False		,,,				2504	0.001				p.C105C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C315T	4						.						70.0	76.0	74.0					4																	6925431		2203	4300	6503	6976332	SO:0001819	synonymous_variant	57533	exon2			AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.315C>T	4.37:g.6925431C>T			6976332	NM_001113361	B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Silent	SNP	ENST00000409757.4	37	CCDS3394.2																																																																																				0.652	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773	
SORCS2	57537	broad.mit.edu	37	4	7677887	7677887	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:7677887C>T	ENST00000507866.2	+	9	1381	c.1272C>T	c.(1270-1272)taC>taT	p.Y424Y	SORCS2_ENST00000329016.9_Silent_p.Y252Y	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	424					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.Y274Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GCGTGCGCTACGCGCTGGTGC	0.647																																					p.Y424Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1272T	4						.						23.0	28.0	27.0					4																	7677887		2162	4233	6395	7728787	SO:0001819	synonymous_variant	57537	exon9			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1272C>T	4.37:g.7677887C>T			7728787	NM_020777	Q9P2L7	Silent	SNP	ENST00000507866.2	37	CCDS47008.1																																																																																				0.647	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777	
FAM200B	285550	broad.mit.edu	37	4	15689531	15689531	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:15689531delA	ENST00000422728.2	+	2	1769	c.931delA	c.(931-933)aaafs	p.K312fs	FAM200B_ENST00000504137.1_Intron	NM_001145191.1	NP_001138663.1	P0CF97	F200B_HUMAN	family with sequence similarity 200, member B	312							nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)	2						cagagtaattaaaaaattact	0.353																																					p.K311fs												.	.	0			c.931delA	4						.						43.0	40.0	41.0					4																	15689531		692	1589	2281	15298629	SO:0001589	frameshift_variant	285550	exon2			BC048993	CCDS47028.1	4p15.32	2014-04-02			ENSG00000237765	ENSG00000237765			27740	protein-coding gene	gene with protein product	"""chromosome 4 open reading frame 53"""						Standard	NM_001145191		Approved	C4orf53	uc003gof.4	P0CF97	OTTHUMG00000160279	ENST00000422728.2:c.931delA	4.37:g.15689531delA	ENSP00000393017:p.Lys312fs		15298629	NM_001145191		Frame_Shift_Del	DEL	ENST00000422728.2	37	CCDS47028.1																																																																																				0.353	FAM200B-005	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360100.1	NM_001145191	
GPR125	166647	broad.mit.edu	37	4	22389651	22389651	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:22389651C>T	ENST00000334304.5	-	19	3912	c.3643G>A	c.(3643-3645)Gaa>Aaa	p.E1215K	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1215					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.E1215K(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GAGTGTCCTTCGTTATTGCCC	0.532																																					p.E1215K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3643A	4						.						93.0	86.0	89.0					4																	22389651		2203	4300	6503	21998749	SO:0001583	missense	166647	exon19			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3643G>A	4.37:g.22389651C>T	ENSP00000334952:p.Glu1215Lys		21998749	NM_145290	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798435	0.31777	.	.	ENSG00000152990	ENST00000334304	T	0.53857	0.6	5.9	4.19	0.49359	.	0.197470	0.52532	N	0.000071	T	0.48572	0.1507	L	0.59436	1.845	0.80722	D	1	B;B	0.34264	0.446;0.003	B;B	0.32465	0.146;0.001	T	0.48019	-0.9071	10	0.52906	T	0.07	0.1256	12.6801	0.56916	0.0:0.8667:0.0:0.1333	.	1072;1215	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	K	1215	ENSP00000334952:E1215K	ENSP00000334952:E1215K	E	-	1	0	GPR125	21998749	0.896000	0.30565	0.019000	0.16419	0.203000	0.24098	2.290000	0.43531	0.838000	0.34948	0.650000	0.86243	GAA		0.532	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3		
PPARGC1A	10891	broad.mit.edu	37	4	23816079	23816079	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:23816079T>C	ENST00000264867.2	-	8	1146	c.1027A>G	c.(1027-1029)Aac>Gac	p.N343D	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	343					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.N343D(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTGGTGGAGTTATTGCCTTGT	0.522																																					p.N343D	Esophageal Squamous(29;694 744 13796 34866 44181)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1027G	4						.						141.0	143.0	143.0					4																	23816079		2203	4300	6503	23425177	SO:0001583	missense	10891	exon8			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1027A>G	4.37:g.23816079T>C	ENSP00000264867:p.Asn343Asp		23425177	NM_013261	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	T	10.95	1.495457	0.26774	.	.	ENSG00000109819	ENST00000264867	T	0.22336	1.96	6.06	4.87	0.63330	.	0.429830	0.31358	N	0.007782	T	0.15696	0.0378	L	0.59436	1.845	0.80722	D	1	P	0.48764	0.915	B	0.32677	0.15	T	0.06552	-1.0820	10	0.30854	T	0.27	-4.6216	8.1493	0.31130	0.1223:0.0:0.1855:0.6922	.	343	Q9UBK2	PRGC1_HUMAN	D	343	ENSP00000264867:N343D	ENSP00000264867:N343D	N	-	1	0	PPARGC1A	23425177	1.000000	0.71417	0.884000	0.34674	0.963000	0.63663	2.753000	0.47524	1.025000	0.39708	0.528000	0.53228	AAC		0.522	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261	
LGI2	55203	broad.mit.edu	37	4	25005398	25005398	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:25005398C>A	ENST00000382114.4	-	8	1498	c.1313G>T	c.(1312-1314)cGc>cTc	p.R438L		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	438						extracellular region (GO:0005576)		p.R438H(1)|p.R438L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CCCGATGAAGCGGGTAAGGGA	0.542																																					p.R438L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1313T	4						.						176.0	188.0	184.0					4																	25005398		2203	4300	6503	24614496	SO:0001583	missense	55203	exon8			AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1313G>T	4.37:g.25005398C>A	ENSP00000371548:p.Arg438Leu		24614496	NM_018176	Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898525	0.91962	.	.	ENSG00000153012	ENST00000382114;ENST00000282970	T	0.81163	-1.46	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.89181	0.6642	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.89715	0.3915	10	0.87932	D	0	-24.2404	19.5927	0.95522	0.0:1.0:0.0:0.0	.	438	Q8N0V4	LGI2_HUMAN	L	438;86	ENSP00000371548:R438L	ENSP00000282970:R86L	R	-	2	0	LGI2	24614496	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.618000	0.88619	0.557000	0.71058	CGC		0.542	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1		
TMEM33	55161	broad.mit.edu	37	4	41940649	41940649	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:41940649G>T	ENST00000504986.1	+	2	441	c.76G>T	c.(76-78)Gca>Tca	p.A26S	TMEM33_ENST00000513702.1_Missense_Mutation_p.A26S|TMEM33_ENST00000325094.5_Missense_Mutation_p.A26S	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	26						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)		p.A26S(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						ACTGGACACGGCAATGTGGCT	0.373																																					p.A26S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G76T	4						.						257.0	240.0	246.0					4																	41940649		2203	4300	6503	41635406	SO:0001583	missense	55161	exon2			BC000948	CCDS3464.1	4p14	2008-02-05			ENSG00000109133	ENSG00000109133			25541	protein-coding gene	gene with protein product						12477932	Standard	NM_018126		Approved	FLJ10525	uc003gwi.2	P57088	OTTHUMG00000099381	ENST00000504986.1:c.76G>T	4.37:g.41940649G>T	ENSP00000422473:p.Ala26Ser		41635406	NM_018126	B3KSS8|Q9H953	Missense_Mutation	SNP	ENST00000504986.1	37	CCDS3464.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417032	0.83449	.	.	ENSG00000109133	ENST00000504986;ENST00000508448;ENST00000513702;ENST00000325094	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.78020	0.4218	L	0.59436	1.845	0.80722	D	1	D	0.63046	0.992	D	0.74348	0.983	T	0.77539	-0.2550	9	0.66056	D	0.02	-9.7163	20.3396	0.98756	0.0:0.0:1.0:0.0	.	26	P57088	TMM33_HUMAN	S	26	.	ENSP00000264452:A26S	A	+	1	0	TMEM33	41635406	1.000000	0.71417	0.962000	0.40283	0.991000	0.79684	9.869000	0.99810	2.812000	0.96745	0.555000	0.69702	GCA		0.373	TMEM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216834.2	NM_018126	
DCAF4L1	285429	broad.mit.edu	37	4	41984874	41984874	+	Silent	SNP	G	G	A	rs201306900		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:41984874G>A	ENST00000333141.5	+	1	1162	c.1065G>A	c.(1063-1065)ccG>ccA	p.P355P		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	355								p.P355P(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TCCCTTCCCCGTACTCTGCCT	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		18112	0.0		0.001	False		,,,				2504	0.0				p.P355P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1065A	4						.						85.0	72.0	77.0					4																	41984874		2203	4300	6503	41679631	SO:0001819	synonymous_variant	285429	exon1			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.1065G>A	4.37:g.41984874G>A			41679631	NM_001029955	B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Silent	SNP	ENST00000333141.5	37	CCDS33978.1																																																																																				0.642	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955	
KDR	3791	broad.mit.edu	37	4	55964878	55964878	+	Missense_Mutation	SNP	G	G	A	rs1139774		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:55964878G>A	ENST00000263923.4	-	16	2654	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	787				R -> G (in Ref. 7; AAA59459/CAA43837). {ECO:0000305}.	angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R787W(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTAACGGTCCGTAGGATGATG	0.433			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																											p.R787W			Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2359T	4						.	G	TRP/ARG	0,4406		0,0,2203	112.0	112.0	112.0		2359	5.1	0.9	4	dbSNP_86	112	1,8599	1.2+/-3.3	0,1,4299	no	missense	KDR	NM_002253.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	787/1357	55964878	1,13005	2203	4300	6503	55659635	SO:0001583	missense	3791	exon16			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2359C>T	4.37:g.55964878G>A	ENSP00000263923:p.Arg787Trp		55659635	NM_002253	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704812	0.68615	0.0	1.16E-4	ENSG00000128052	ENST00000263923	T	0.79749	-1.3	5.97	5.1	0.69264	.	0.070349	0.64402	D	0.000007	D	0.88926	0.6570	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89956	0.4083	10	0.66056	D	0.02	.	15.8497	0.78921	0.0:0.0:0.8509:0.1491	.	787	P35968	VGFR2_HUMAN	W	787	ENSP00000263923:R787W	ENSP00000263923:R787W	R	-	1	2	KDR	55659635	1.000000	0.71417	0.948000	0.38648	0.951000	0.60555	5.525000	0.67110	1.465000	0.48006	0.655000	0.94253	CGG		0.433	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		
KIAA1211	57482	broad.mit.edu	37	4	57181218	57181218	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:57181218G>A	ENST00000504228.1	+	6	1655	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H	KIAA1211_ENST00000541073.1_Missense_Mutation_p.R510H|KIAA1211_ENST00000264229.6_Missense_Mutation_p.R517H			Q6ZU35	K1211_HUMAN	KIAA1211	517	Glu-rich.							p.R517H(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAACAAGGCCGCAAGGTGGAG	0.637																																					p.R517H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1550A	4						.						13.0	18.0	17.0					4																	57181218		2079	4197	6276	56875975	SO:0001583	missense	57482	exon8			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1550G>A	4.37:g.57181218G>A	ENSP00000423366:p.Arg517His		56875975	NM_020722	Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930454	0.73327	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02050	4.48;4.48;4.48	4.86	3.8	0.43715	.	.	.	.	.	T	0.11452	0.0279	M	0.70275	2.135	0.09310	N	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.992;0.992	T	0.01982	-1.1235	9	0.87932	D	0	-9.3853	13.9911	0.64367	0.0875:0.0:0.9125:0.0	.	510;510;517	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	H	517;517;510;427	ENSP00000264229:R517H;ENSP00000423366:R517H;ENSP00000444006:R510H	ENSP00000264229:R517H	R	+	2	0	KIAA1211	56875975	0.512000	0.26186	0.003000	0.11579	0.006000	0.05464	3.327000	0.52045	2.229000	0.72834	0.561000	0.74099	CGC		0.637	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722	
UGT2B7	7364	broad.mit.edu	37	4	69964387	69964387	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:69964387C>A	ENST00000508661.1	+	2	878	c.851C>A	c.(850-852)cCt>cAt	p.P284H	UGT2B7_ENST00000305231.7_Missense_Mutation_p.P284H|UGT2B7_ENST00000509763.1_3'UTR			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	284					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.P284H(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CACTGCAAACCTGCCAAACCC	0.383																																					p.P284H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C851A	4						.						164.0	171.0	168.0					4																	69964387		2203	4300	6503	69998976	SO:0001583	missense	7364	exon2			BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.851C>A	4.37:g.69964387C>A	ENSP00000427659:p.Pro284His		69998976	NM_001074	B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37		.	.	.	.	.	.	.	.	.	.	C	13.59	2.282902	0.40394	.	.	ENSG00000171234	ENST00000502942;ENST00000305231;ENST00000508661	T;T;T	0.61392	0.11;0.11;0.11	2.68	0.799	0.18667	.	0.000000	0.64402	U	0.000001	T	0.72120	0.3421	M	0.90650	3.135	0.28953	N	0.890296	D;P	0.53151	0.958;0.904	P;P	0.60012	0.867;0.792	T	0.66752	-0.5844	9	.	.	.	.	6.3343	0.21287	0.2067:0.5921:0.2012:0.0	.	284;284	E9PBP8;P16662	.;UD2B7_HUMAN	H	35;284;284	ENSP00000426206:P35H;ENSP00000304811:P284H;ENSP00000427659:P284H	.	P	+	2	0	UGT2B7	69998976	1.000000	0.71417	0.780000	0.31762	0.872000	0.50106	3.210000	0.51129	0.023000	0.15187	0.585000	0.79938	CCT		0.383	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074	
UGT2A1	10941	broad.mit.edu	37	4	70513073	70513073	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:70513073delT	ENST00000503640.1	-	1	345	c.290delA	c.(289-291)aatfs	p.N97fs	UGT2A1_ENST00000286604.4_Frame_Shift_Del_p.N97fs|UGT2A1_ENST00000512704.1_Frame_Shift_Del_p.N97fs|UGT2A1_ENST00000514019.1_Frame_Shift_Del_p.N97fs	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	97					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.N97fs*18(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGATGGTCTATTTTCCAGCCA	0.418																																					p.N97fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.290delA	4						.						85.0	80.0	82.0					4																	70513073		2203	4300	6503	70547662	SO:0001589	frameshift_variant	10941	exon1			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.290delA	4.37:g.70513073delT	ENSP00000424478:p.Asn97fs		70547662	NM_006798	B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Frame_Shift_Del	DEL	ENST00000503640.1	37	CCDS3529.1																																																																																				0.418	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798	
USO1	8615	broad.mit.edu	37	4	76650040	76650040	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:76650040G>A	ENST00000538159.1	+	1	37	c.37G>A	c.(37-39)Gcc>Acc	p.A13T	USO1_ENST00000514213.2_Missense_Mutation_p.A13T			O60763	USO1_HUMAN	USO1 vesicle transport factor	13	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.A13T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGGTCAGAGTGCCGGACCCCA	0.637																																					p.A13T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G37A	4						.						31.0	39.0	37.0					4																	76650040		1976	4161	6137	76869064	SO:0001583	missense	8615	exon1			AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.37G>A	4.37:g.76650040G>A	ENSP00000440586:p.Ala13Thr		76869064	NM_003715	B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37		.	.	.	.	.	.	.	.	.	.	G	14.90	2.674319	0.47781	.	.	ENSG00000138768	ENST00000538159;ENST00000514213	.	.	.	4.24	3.39	0.38822	.	0.169093	0.52532	D	0.000078	T	0.42921	0.1224	L	0.28192	0.835	0.41401	D	0.987679	.	.	.	.	.	.	T	0.29579	-1.0007	7	0.37606	T	0.19	.	7.2757	0.26283	0.1179:0.0:0.8821:0.0	.	.	.	.	T	13	.	ENSP00000444850:A13T	A	+	1	0	USO1	76869064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.335000	0.43929	2.373000	0.80994	0.491000	0.48974	GCC		0.637	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715	
SHROOM3	57619	broad.mit.edu	37	4	77661720	77661720	+	Silent	SNP	G	G	A	rs557281248		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:77661720G>A	ENST00000296043.6	+	5	3347	c.2394G>A	c.(2392-2394)ccG>ccA	p.P798P		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	798					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)		p.P797P(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCCAGAGACCGAGTGTGGGCG	0.572													g|||	1	0.000199681	0.0	0.0	5008	,	,		15911	0.0		0.0	False		,,,				2504	0.001				p.P798P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2394A	4						.						50.0	59.0	56.0					4																	77661720		2203	4300	6503	77880744	SO:0001819	synonymous_variant	57619	exon5			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2394G>A	4.37:g.77661720G>A			77880744	NM_020859	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	CCDS3579.2																																																																																				0.572	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859	
FRAS1	80144	broad.mit.edu	37	4	79334176	79334176	+	Silent	SNP	C	C	T	rs367736746		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:79334176C>T	ENST00000325942.6	+	32	4802	c.4362C>T	c.(4360-4362)atC>atT	p.I1454I	FRAS1_ENST00000264895.6_Silent_p.I1454I	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1454					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.I1454I(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGTTCAACATCGCGATCTTAC	0.512													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17523	0.0		0.0	False		,,,				2504	0.0				p.I1454I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4362T	4						.	C	,	0,3960		0,0,1980	121.0	123.0	122.0		4362,4362	-2.1	1.0	4		122	2,8324		0,2,4161	no	coding-synonymous,coding-synonymous	FRAS1	NM_001166133.1,NM_025074.6	,	0,2,6141	TT,TC,CC		0.024,0.0,0.0163	,	1454/1977,1454/4013	79334176	2,12284	1980	4163	6143	79553200	SO:0001819	synonymous_variant	80144	exon32			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4362C>T	4.37:g.79334176C>T			79553200	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	CCDS54772.1																																																																																				0.512	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
FRAS1	80144	broad.mit.edu	37	4	79368027	79368027	+	Silent	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:79368027T>C	ENST00000264895.6	+	43	6443	c.6003T>C	c.(6001-6003)ccT>ccC	p.P2001P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2001					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.P2001P(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAAAAAAGCCTGACCACGGTA	0.428																																					p.P2001P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T6003C	4						.						44.0	45.0	45.0					4																	79368027		1909	4112	6021	79587051	SO:0001819	synonymous_variant	80144	exon43			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.6003T>C	4.37:g.79368027T>C			79587051	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	T	1.236	-0.622618	0.03636	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.57	1.88	0.25563	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5165	0.11937	0.1357:0.2872:0.0:0.5772	.	.	.	.	R	230	.	.	X	+	1	0	FRAS1	79587051	0.020000	0.18652	0.982000	0.44146	0.051000	0.14879	-0.136000	0.10405	0.415000	0.25817	-0.297000	0.09499	TGA		0.428	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
WDFY3	23001	broad.mit.edu	37	4	85748006	85748006	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:85748006delA	ENST00000295888.4	-	10	1492	c.1085delT	c.(1084-1086)ttafs	p.L363fs	WDFY3_ENST00000322366.6_Frame_Shift_Del_p.L363fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	363					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.L362fs*17(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCCAGGCAATAAAAAGGGTGC	0.413																																					p.L362fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1085delT	4						.						101.0	93.0	95.0					4																	85748006		2203	4300	6503	85967030	SO:0001589	frameshift_variant	23001	exon10			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1085delT	4.37:g.85748006delA	ENSP00000295888:p.Leu363fs		85967030	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Del	DEL	ENST00000295888.4	37	CCDS3609.1																																																																																				0.413	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
UNC5C	8633	broad.mit.edu	37	4	96140320	96140320	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:96140320T>C	ENST00000453304.1	-	9	1793	c.1445A>G	c.(1444-1446)tAc>tGc	p.Y482C	UNC5C_ENST00000506749.1_Missense_Mutation_p.Y501C	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	482					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.Y482C(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGAGGTGTTGTACACTTTGAT	0.507																																					p.Y482C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1445G	4						.						287.0	266.0	273.0					4																	96140320		2203	4300	6503	96359343	SO:0001583	missense	8633	exon9			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1445A>G	4.37:g.96140320T>C	ENSP00000406022:p.Tyr482Cys		96359343	NM_003728	Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	T	15.68	2.905142	0.52333	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.57907	0.71;0.38;0.37	5.45	2.8	0.32819	.	0.119867	0.64402	D	0.000017	T	0.65995	0.2745	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.73380	0.894;0.98;0.98	T	0.64918	-0.6294	10	0.45353	T	0.12	.	10.2911	0.43596	0.2628:0.0:0.0:0.7372	.	482;501;482	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	C	482;441;501;501	ENSP00000406022:Y482C;ENSP00000426924:Y501C;ENSP00000426153:Y501C	ENSP00000328673:Y441C	Y	-	2	0	UNC5C	96359343	1.000000	0.71417	0.999000	0.59377	0.810000	0.45777	4.170000	0.58229	0.862000	0.35528	0.533000	0.62120	TAC		0.507	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728	
FAT1	2195	broad.mit.edu	37	4	187540603	187540603	+	Silent	SNP	G	G	A	rs200950081		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr4:187540603G>A	ENST00000441802.2	-	10	7346	c.7137C>T	c.(7135-7137)gaC>gaT	p.D2379D		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2379	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D2379D(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGTCGGTAACGTCCACCGTGA	0.507										HNSCC(5;0.00058)			G|||	1	0.000199681	0.0	0.0	5008	,	,		20996	0.0		0.0	False		,,,				2504	0.001				p.D2379D	Colon(197;1040 2055 4143 4984 49344)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7137T	4						.	G		0,4224		0,0,2112	68.0	70.0	69.0		7137	-0.6	1.0	4		69	2,8456		0,2,4227	no	coding-synonymous	FAT1	NM_005245.3		0,2,6339	AA,AG,GG		0.0236,0.0,0.0158		2379/4589	187540603	2,12680	2112	4229	6341	187777597	SO:0001819	synonymous_variant	2195	exon10			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7137C>T	4.37:g.187540603G>A			187777597	NM_005245		Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																				0.507	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
FAM173B	134145	broad.mit.edu	37	5	10239183	10239183	+	Missense_Mutation	SNP	C	C	T	rs559270054		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:10239183C>T	ENST00000511437.1	-	2	314	c.302G>A	c.(301-303)cGc>cAc	p.R101H	FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.R101H	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	101						integral component of membrane (GO:0016021)		p.R101L(1)|p.R101H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						ACTCACAATGCGTCCGTCCCC	0.398																																					p.R101H												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G302A	5						.						112.0	109.0	110.0					5																	10239183		1981	4143	6124	10292183	SO:0001583	missense	134145	exon2				CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.302G>A	5.37:g.10239183C>T	ENSP00000422338:p.Arg101His		10292183	NM_199133	B4DT41|B4DXK2|E9PBZ4	Missense_Mutation	SNP	ENST00000511437.1	37	CCDS43301.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586693	0.66105	.	.	ENSG00000150756	ENST00000511437;ENST00000510047	T;T	0.37752	1.18;1.18	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.70745	0.3259	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.79831	-0.1637	10	0.87932	D	0	-24.1078	17.7316	0.88379	0.0:1.0:0.0:0.0	.	101;101	E9PBZ4;Q6P4H8	.;F173B_HUMAN	H	101	ENSP00000422338:R101H;ENSP00000420876:R101H	ENSP00000424210:R101H	R	-	2	0	FAM173B	10292183	1.000000	0.71417	0.098000	0.21074	0.140000	0.21249	6.966000	0.76073	2.430000	0.82344	0.655000	0.94253	CGC		0.398	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133	
YTHDC2	64848	broad.mit.edu	37	5	112891792	112891792	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:112891792T>C	ENST00000161863.4	+	17	2390	c.2177T>C	c.(2176-2178)gTa>gCa	p.V726A	YTHDC2_ENST00000515883.1_Missense_Mutation_p.V726A	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	726	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)	p.V726A(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTAAAAATGGTATGGATTTCC	0.289																																					p.V726A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2177C	5						.						65.0	68.0	67.0					5																	112891792		2202	4291	6493	112919691	SO:0001583	missense	64848	exon17			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2177T>C	5.37:g.112891792T>C	ENSP00000161863:p.Val726Ala		112919691	NM_022828	B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.357169	0.41801	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.71579	0.89;-0.58	4.89	4.89	0.63831	Helicase, C-terminal (3);	0.318389	0.27936	N	0.017248	T	0.54111	0.1838	N	0.17723	0.515	0.40258	D	0.978145	B	0.24963	0.115	B	0.24701	0.055	T	0.51537	-0.8693	10	0.10636	T	0.68	.	14.5433	0.68011	0.0:0.0:0.0:1.0	.	726	Q9H6S0	YTDC2_HUMAN	A	726;726;636	ENSP00000161863:V726A;ENSP00000423101:V726A	ENSP00000161863:V726A	V	+	2	0	YTHDC2	112919691	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.878000	0.69682	1.840000	0.53500	0.524000	0.50904	GTA		0.289	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828	
SEMA6A	57556	broad.mit.edu	37	5	115811251	115811251	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:115811251C>T	ENST00000343348.6	-	16	2485	c.1698G>A	c.(1696-1698)ggG>ggA	p.G566G	SEMA6A_ENST00000510263.1_Silent_p.G566G|SEMA6A_ENST00000257414.8_Silent_p.G566G|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000507558.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000282394.6_Silent_p.G98G	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	566					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.G566G(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGACAGTCCCCCAGACCAT	0.408																																					p.G566G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1698A	5						.						71.0	65.0	67.0					5																	115811251		1927	4131	6058	115839150	SO:0001819	synonymous_variant	57556	exon16			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1698G>A	5.37:g.115811251C>T			115839150	NM_020796	Q9P2H9	Silent	SNP	ENST00000343348.6	37	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	C	9.925	1.213365	0.22289	.	.	ENSG00000092421	ENST00000515129	T	0.09255	3.0	6.17	-2.57	0.06248	.	0.048538	0.85682	D	0.000000	T	0.12220	0.0297	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15178	-1.0446	7	0.72032	D	0.01	.	2.3076	0.04178	0.1529:0.4162:0.1849:0.246	.	.	.	.	E	136	ENSP00000422275:G136E	ENSP00000422275:G136E	G	-	2	0	SEMA6A	115839150	0.975000	0.34042	0.989000	0.46669	0.995000	0.86356	0.127000	0.15790	-0.243000	0.09653	-0.140000	0.14226	GGG		0.408	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796	
ZNF474	133923	broad.mit.edu	37	5	121487990	121487990	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:121487990G>A	ENST00000296600.4	+	2	688	c.305G>A	c.(304-306)cGa>cAa	p.R102Q	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA|CTC-441N14.1_ENST00000505209.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	102							metal ion binding (GO:0046872)	p.R102Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		ATCTGTGGCCGAGAATTTGGG	0.502																																					p.R102Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G305A	5						.						75.0	78.0	77.0					5																	121487990		2203	4300	6503	121515889	SO:0001583	missense	133923	exon2			AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"""Zinc fingers, C2H2-type"""	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.305G>A	5.37:g.121487990G>A	ENSP00000296600:p.Arg102Gln		121515889	NM_207317	A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	37	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653345	0.67472	.	.	ENSG00000164185	ENST00000296600	D	0.84370	-1.84	5.58	3.77	0.43336	.	0.202328	0.34156	N	0.004215	D	0.86707	0.5997	L	0.39326	1.205	0.34280	D	0.682089	D	0.76494	0.999	D	0.65140	0.932	D	0.89052	0.3456	10	0.54805	T	0.06	-21.1914	11.2206	0.48853	0.1708:0.0:0.8292:0.0	.	102	Q6S9Z5	ZN474_HUMAN	Q	102	ENSP00000296600:R102Q	ENSP00000296600:R102Q	R	+	2	0	ZNF474	121515889	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	3.110000	0.50352	2.624000	0.88883	0.655000	0.94253	CGA		0.502	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317	
SLC6A18	348932	broad.mit.edu	37	5	1244882	1244882	+	Splice_Site	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:1244882C>T	ENST00000324642.3	+	11	1779	c.1656C>T	c.(1654-1656)taC>taT	p.Y552Y		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	552					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)	p.Y552Y(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACCCCAAATACGTAGGTCCTT	0.612																																					p.Y552Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1656T	5						.						67.0	66.0	66.0					5																	1244882		2203	4300	6503	1297882	SO:0001630	splice_region_variant	348932	exon11			AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1656+1C>T	5.37:g.1244882C>T			1297882	NM_182632		Silent	SNP	ENST00000324642.3	37	CCDS3860.1																																																																																				0.612	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632	Silent
CSNK1G3	1456	broad.mit.edu	37	5	122881406	122881406	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:122881406C>T	ENST00000361991.2	+	1	79	c.49C>T	c.(49-51)Cga>Tga	p.R17*	CSNK1G3_ENST00000395412.1_Nonsense_Mutation_p.R17*|CSNK1G3_ENST00000360683.2_Nonsense_Mutation_p.R17*|CSNK1G3_ENST00000395411.1_Nonsense_Mutation_p.R17*|CSNK1G3_ENST00000345990.4_Nonsense_Mutation_p.R17*|CSNK1G3_ENST00000510842.2_Nonsense_Mutation_p.R17*|CSNK1G3_ENST00000521364.1_Nonsense_Mutation_p.R17*|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000512718.3_Intron			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	17					cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R17*(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TAGAATGGCACGACCTAGTGG	0.403																																					p.R17X	Pancreas(187;2868 2964 4353 6297)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C49T	5						.						131.0	111.0	118.0					5																	122881406		2203	4300	6503	122909305	SO:0001587	stop_gained	1456	exon2			AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.49C>T	5.37:g.122881406C>T	ENSP00000354942:p.Arg17*		122909305	NM_001044723	A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Nonsense_Mutation	SNP	ENST00000361991.2	37	CCDS4135.1	.	.	.	.	.	.	.	.	.	.	C	37	6.409971	0.97546	.	.	ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000345990;ENST00000521364;ENST00000510842;ENST00000361991;ENST00000360683	.	.	.	5.2	4.33	0.51752	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	14.1044	0.65078	0.2727:0.7273:0.0:0.0	.	.	.	.	X	17	.	ENSP00000334735:R17X	R	+	1	2	CSNK1G3	122909305	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	1.963000	0.40452	1.498000	0.48600	0.655000	0.94253	CGA		0.403	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384	
CATSPER3	347732	broad.mit.edu	37	5	134345111	134345111	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:134345111G>A	ENST00000282611.6	+	6	953	c.867G>A	c.(865-867)atG>atA	p.M289I		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	289					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.M289I(1)		NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCAGGAGATGCTCATGGGAG	0.557																																					p.M289I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G867A	5						.						119.0	110.0	113.0					5																	134345111		2203	4300	6503	134373010	SO:0001583	missense	347732	exon6			AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"""Voltage-gated ion channels / Cation channels, sperm associated"""	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.867G>A	5.37:g.134345111G>A	ENSP00000282611:p.Met289Ile		134373010	NM_178019	Q86XS6	Missense_Mutation	SNP	ENST00000282611.6	37	CCDS4181.1	.	.	.	.	.	.	.	.	.	.	G	0.363	-0.938101	0.02340	.	.	ENSG00000152705	ENST00000282611	D	0.96856	-4.15	4.67	-9.33	0.00639	.	0.779066	0.11320	N	0.576182	D	0.87354	0.6156	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71334	-0.4624	10	0.15952	T	0.53	0.0241	17.2566	0.87059	0.0942:0.5015:0.4043:0.0	.	289	Q86XQ3	CTSR3_HUMAN	I	289	ENSP00000282611:M289I	ENSP00000282611:M289I	M	+	3	0	CATSPER3	134373010	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-5.709000	0.00103	-6.607000	0.00003	-1.202000	0.01658	ATG		0.557	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019	
MYOT	9499	broad.mit.edu	37	5	137206565	137206565	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:137206565G>T	ENST00000239926.4	+	2	599	c.225G>T	c.(223-225)caG>caT	p.Q75H	MYOT_ENST00000515645.1_Splice_Site|MYOT_ENST00000421631.2_Intron|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	75					muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)	p.Q75H(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTCCCAAGCAGCATGCTGGCT	0.527																																					p.Q75H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G225T	5						.						102.0	92.0	95.0					5																	137206565		2203	4300	6503	137234464	SO:0001583	missense	9499	exon2			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.225G>T	5.37:g.137206565G>T	ENSP00000239926:p.Gln75His		137234464	NM_006790	A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	G	9.537	1.112399	0.20795	.	.	ENSG00000120729	ENST00000239926	T	0.68765	-0.35	5.76	4.89	0.63831	.	0.249150	0.29178	N	0.012901	T	0.58764	0.2145	N	0.19112	0.55	0.80722	D	1	D	0.57899	0.981	P	0.51999	0.687	T	0.61802	-0.6988	10	0.59425	D	0.04	.	7.8456	0.29424	0.0816:0.0:0.7186:0.1999	.	75	Q9UBF9	MYOTI_HUMAN	H	75	ENSP00000239926:Q75H	ENSP00000239926:Q75H	Q	+	3	2	MYOT	137234464	1.000000	0.71417	0.995000	0.50966	0.218000	0.24690	2.564000	0.45931	1.431000	0.47355	0.460000	0.39030	CAG		0.527	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790	
CDC23	8697	broad.mit.edu	37	5	137527973	137527973	+	Missense_Mutation	SNP	C	C	T	rs369097703		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:137527973C>T	ENST00000394886.2	-	11	1301	c.1271G>A	c.(1270-1272)cGg>cAg	p.R424Q		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	424					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.R418Q(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTGGTGGGCCCGTCTATAATA	0.443																																					p.R424Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1271A	5						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	70.0	71.0	71.0		1271	5.9	1.0	5		71	0,8600		0,0,4300	no	missense	CDC23	NM_004661.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	424/598	137527973	1,13005	2203	4300	6503	137555872	SO:0001583	missense	8697	exon11			AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1271G>A	5.37:g.137527973C>T	ENSP00000378350:p.Arg424Gln		137555872	NM_004661	A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273814	0.40194	2.27E-4	0.0	ENSG00000094880	ENST00000394886	T	0.59224	0.28	5.94	5.94	0.96194	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.054825	0.64402	D	0.000001	T	0.42675	0.1213	N	0.11364	0.135	0.80722	D	1	B	0.28760	0.221	B	0.28784	0.094	T	0.26538	-1.0100	10	0.25751	T	0.34	-14.7431	20.3736	0.98901	0.0:1.0:0.0:0.0	.	424	Q9UJX2	CDC23_HUMAN	Q	424	ENSP00000378350:R424Q	ENSP00000378350:R424Q	R	-	2	0	CDC23	137555872	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.919000	0.63383	2.820000	0.97059	0.650000	0.86243	CGG		0.443	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2		
CDC23	8697	broad.mit.edu	37	5	137534337	137534337	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:137534337C>T	ENST00000394886.2	-	7	819	c.789G>A	c.(787-789)tcG>tcA	p.S263S		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	263					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.S257S(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAACAATATACGAGCTCTTAG	0.403																																					p.S263S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G789A	5						.						138.0	148.0	145.0					5																	137534337		2203	4300	6503	137562236	SO:0001819	synonymous_variant	8697	exon7			AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.789G>A	5.37:g.137534337C>T			137562236	NM_004661	A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Silent	SNP	ENST00000394886.2	37	CCDS4200.2																																																																																				0.403	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2		
REEP2	51308	broad.mit.edu	37	5	137780186	137780186	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:137780186C>T	ENST00000254901.5	+	4	387	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	REEP2_ENST00000378339.2_Missense_Mutation_p.R89C|REEP2_ENST00000506158.1_Missense_Mutation_p.R51C	NM_016606.2	NP_057690.2	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	89					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein transport into membrane raft (GO:0032596)|regulation of intracellular transport (GO:0032386)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.R89C(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGTGCTCTACCGCAAGTTCGT	0.592																																					p.R89C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C265T	5						.						166.0	128.0	141.0					5																	137780186		2203	4300	6503	137808085	SO:0001583	missense	51308	exon4			AK056193	CCDS4205.1, CCDS64259.1	5q31	2014-03-12	2006-02-07	2006-02-07	ENSG00000132563	ENSG00000132563		"""Receptor accessory proteins"""	17975	protein-coding gene	gene with protein product		609347	"""chromosome 5 open reading frame 19"""	C5orf19		16271481, 15550249, 24388663	Standard	NM_016606		Approved	SGC32445, SPG72	uc003lda.4	Q9BRK0	OTTHUMG00000129205	ENST00000254901.5:c.265C>T	5.37:g.137780186C>T	ENSP00000254901:p.Arg89Cys		137808085	NM_016606	Q53EM8|Q9NYF2	Missense_Mutation	SNP	ENST00000254901.5	37	CCDS4205.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.441653	0.83993	.	.	ENSG00000132563	ENST00000378339;ENST00000254901;ENST00000506158	D;D;D	0.92858	-3.12;-3.12;-3.12	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.96661	0.8910	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96827	0.9608	10	0.87932	D	0	-21.4333	10.9809	0.47494	0.2904:0.7096:0.0:0.0	.	89;89	A8K3D2;Q9BRK0	.;REEP2_HUMAN	C	89;89;51	ENSP00000367590:R89C;ENSP00000254901:R89C;ENSP00000422530:R51C	ENSP00000254901:R89C	R	+	1	0	REEP2	137808085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.479000	0.60236	2.674000	0.91012	0.655000	0.94253	CGC		0.592	REEP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251284.1	NM_016606	
MZB1	51237	broad.mit.edu	37	5	138724213	138724213	+	Missense_Mutation	SNP	C	C	T	rs374843946		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:138724213C>T	ENST00000302125.8	-	2	296	c.239G>A	c.(238-240)cGg>cAg	p.R80Q	MZB1_ENST00000412103.2_Intron	NM_016459.3	NP_057543.2	Q8WU39	MZB1_HUMAN	marginal zone B and B1 cell-specific protein	80					apoptotic process (GO:0006915)|integrin activation (GO:0033622)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin biosynthetic process (GO:0002642)|regulation of B cell proliferation (GO:0030888)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)											GCTCAGCTCCCGCCGCCCCCC	0.607																																					p.R80Q												.	.	0			c.G239A	5						.	C	GLN/ARG	1,3895		0,1,1947	35.0	41.0	39.0		239	-8.0	0.0	5		39	0,8260		0,0,4130	no	missense	MZB1	NM_016459.3	43	0,1,6077	TT,TC,CC		0.0,0.0257,0.0082	benign	80/190	138724213	1,12155	1948	4130	6078	138752112	SO:0001583	missense	51237	exon2			AF151024	CCDS47273.1	5q31.2	2012-09-27	2012-09-19		ENSG00000170476	ENSG00000170476			30125	protein-coding gene	gene with protein product	"""plasma cell-induced ER protein 1"", ""proapoptotic caspase adaptor protein"", ""mesenteric oestrogen-dependent adipose gene- 7"""	609447				22573353, 12573802, 11350957, 21093319, 21688198	Standard	NM_016459		Approved	PACAP, MGC29506, HSPC190, pERp1, MEDA-7	uc003lei.3	Q8WU39	OTTHUMG00000163390	ENST00000302125.8:c.239G>A	5.37:g.138724213C>T	ENSP00000303920:p.Arg80Gln		138752112	NM_016459	D2IYS0|Q7Z6N2|Q96RL5|Q9P0T3	Missense_Mutation	SNP	ENST00000302125.8	37	CCDS47273.1	.	.	.	.	.	.	.	.	.	.	C	3.254	-0.152633	0.06585	2.57E-4	0.0	ENSG00000170476	ENST00000302125	T	0.36157	1.27	4.69	-7.99	0.01131	.	.	.	.	.	T	0.11665	0.0284	N	0.03608	-0.345	0.18873	N	0.999989	B;B	0.13145	0.007;0.007	B;B	0.06405	0.002;0.002	T	0.32161	-0.9917	9	0.14656	T	0.56	-0.0126	7.5891	0.28010	0.2289:0.6235:0.0:0.1475	.	80;80	D2IYS0;Q8WU39	.;PERP1_HUMAN	Q	80	ENSP00000303920:R80Q	ENSP00000303920:R80Q	R	-	2	0	RP11-1280I22.1	138752112	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.813000	0.04491	-1.626000	0.01552	-0.448000	0.05591	CGG		0.607	MZB1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373055.1	NM_016459	
PCDHA9	9752	broad.mit.edu	37	5	140228174	140228174	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:140228174C>A	ENST00000532602.1	+	1	1127	c.94C>A	c.(94-96)Cac>Aac	p.H32N	PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.H32N|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	32	Cadherin 1. {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.H32N(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCCAGCTCCACTACTCCGT	0.622																																					p.H32N	Melanoma(55;1800 1972 14909)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C94A	5						.						60.0	62.0	61.0					5																	140228174		2197	4270	6467	140208358	SO:0001583	missense	9752	exon1			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.94C>A	5.37:g.140228174C>A	ENSP00000436042:p.His32Asn		140208358	NM_014005	O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.891874	0.52014	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.26660	1.72;1.72	3.73	3.73	0.42828	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.46386	0.1390	M	0.72118	2.19	0.21579	N	0.999632	P;B	0.41524	0.753;0.131	P;B	0.53490	0.727;0.174	T	0.37619	-0.9698	9	0.87932	D	0	.	16.0776	0.80979	0.0:1.0:0.0:0.0	.	32;32	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	N	32	ENSP00000436042:H32N;ENSP00000367362:H32N	ENSP00000367362:H32N	H	+	1	0	PCDHA9	140208358	0.000000	0.05858	0.892000	0.35008	0.336000	0.28762	0.901000	0.28445	2.051000	0.60960	0.591000	0.81541	CAC		0.622	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
PCDHB1	29930	broad.mit.edu	37	5	140433078	140433078	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:140433078C>A	ENST00000306549.3	+	1	2100	c.2023C>A	c.(2023-2025)Cag>Aag	p.Q675K		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	675					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q675K(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCAGTTCCAGGATCCAAC	0.448																																					p.Q675K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2023A	5						.						153.0	150.0	151.0					5																	140433078		2203	4300	6503	140413262	SO:0001583	missense	29930	exon1			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.2023C>A	5.37:g.140433078C>A	ENSP00000307234:p.Gln675Lys		140413262	NM_013340	Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371551	0.24771	.	.	ENSG00000171815	ENST00000306549	T	0.47869	0.83	6.08	3.16	0.36331	.	0.327071	0.21112	N	0.079961	T	0.31638	0.0803	N	0.22421	0.69	0.27452	N	0.953413	B	0.17038	0.02	B	0.14023	0.01	T	0.20840	-1.0263	10	0.48119	T	0.1	.	8.9633	0.35860	0.264:0.6656:0.0:0.0704	.	675	Q9Y5F3	PCDB1_HUMAN	K	675	ENSP00000307234:Q675K	ENSP00000307234:Q675K	Q	+	1	0	PCDHB1	140413262	0.000000	0.05858	0.726000	0.30738	0.920000	0.55202	0.252000	0.18278	0.873000	0.35799	0.655000	0.94253	CAG		0.448	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340	
PCDHB13	56123	broad.mit.edu	37	5	140594495	140594495	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:140594495C>T	ENST00000341948.4	+	1	987	c.800C>T	c.(799-801)gCc>gTc	p.A267V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	267	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A267V(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGGTCTCTGCCACGGATGTA	0.468																																					p.A267V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C800T	5						.						159.0	158.0	158.0					5																	140594495		2203	4300	6503	140574679	SO:0001583	missense	56123	exon1			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.800C>T	5.37:g.140594495C>T	ENSP00000345491:p.Ala267Val		140574679	NM_018933	A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	c	35	5.563022	0.96527	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.59364	0.27	3.51	3.51	0.40186	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.81744	0.4887	H	0.94503	3.545	0.50632	D	0.999889	D	0.89917	1.0	D	0.91635	0.999	D	0.87874	0.2673	9	0.87932	D	0	.	15.0392	0.71774	0.0:1.0:0.0:0.0	.	267	Q9Y5F0	PCDBD_HUMAN	V	267	ENSP00000345491:A267V	ENSP00000345491:A267V	A	+	2	0	PCDHB13	140574679	1.000000	0.71417	0.031000	0.17742	0.785000	0.44390	4.920000	0.63390	1.675000	0.50919	0.306000	0.20318	GCC		0.468	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933	
PCDHB14	56122	broad.mit.edu	37	5	140604667	140604667	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:140604667C>T	ENST00000239449.4	+	1	1590	c.1590C>T	c.(1588-1590)cgC>cgT	p.R530R	PCDHB14_ENST00000515856.2_Silent_p.R377R	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	530	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R530R(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGAGTTTCGCGTGGGCGCCA	0.662																																					p.R530R	Ovarian(141;50 1831 27899 33809 37648)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1590T	5						.						68.0	74.0	72.0					5																	140604667		2203	4300	6503	140584851	SO:0001819	synonymous_variant	56122	exon1			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1590C>T	5.37:g.140604667C>T			140584851	NM_018934	B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	CCDS4256.1																																																																																				0.662	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934	
PCDHGA1	56114	broad.mit.edu	37	5	140712483	140712483	+	Silent	SNP	C	C	T	rs553517087		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:140712483C>T	ENST00000517417.1	+	1	2232	c.2232C>T	c.(2230-2232)gaC>gaT	p.D744D	PCDHGA1_ENST00000378105.3_Silent_p.D744D	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	744					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D744D(3)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGTGGACGGGGTTCGGG	0.637																																					p.D744D												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C2232T	5						.						71.0	75.0	74.0					5																	140712483		2203	4300	6503	140692667	SO:0001819	synonymous_variant	56114	exon1			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2232C>T	5.37:g.140712483C>T			140692667	NM_031993	Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	CCDS54922.1																																																																																				0.637	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
PCDHGA2	56113	broad.mit.edu	37	5	140719021	140719021	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:140719021C>T	ENST00000394576.2	+	1	483	c.483C>T	c.(481-483)gaC>gaT	p.D161D	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	161	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D161D(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGATGCAGACGTAGGTGAGA	0.512																																					p.D161D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C483T	5						.						87.0	84.0	85.0					5																	140719021		2203	4300	6503	140699205	SO:0001819	synonymous_variant	56113	exon1			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.483C>T	5.37:g.140719021C>T			140699205	NM_032009	Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	CCDS47289.1																																																																																				0.512	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915	
PCDHGA4	56111	broad.mit.edu	37	5	140734801	140734801	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:140734801C>T	ENST00000571252.1	+	1	34	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	12					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	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)			AGACCACACCCGGCTGCTCCA	0.622																																					p.R12W												.	.	0			c.C34T	5						.						28.0	34.0	32.0					5																	140734801		1944	4155	6099	140714985	SO:0001583	missense	56111	exon1			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.34C>T	5.37:g.140734801C>T	ENSP00000458570:p.Arg12Trp		140714985	NM_018917	Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	CCDS58979.1																																																																																				0.622	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917	
PCDHGA10	56106	broad.mit.edu	37	5	140794893	140794893	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:140794893G>A	ENST00000398610.2	+	1	2151	c.2151G>A	c.(2149-2151)gcG>gcA	p.A717A	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	717					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A717A(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGCTGGCGCACAGGCTGC	0.642																																					p.A717A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2151A	5						.						68.0	77.0	74.0					5																	140794893		2203	4298	6501	140775077	SO:0001819	synonymous_variant	56106	exon1				CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.2151G>A	5.37:g.140794893G>A			140775077	NM_032090	Q9Y5E0	Silent	SNP	ENST00000398610.2	37	CCDS47292.1																																																																																				0.642	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913	
POU4F3	5459	broad.mit.edu	37	5	145719440	145719440	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:145719440C>T	ENST00000230732.4	+	2	539	c.450C>T	c.(448-450)ggC>ggT	p.G150G	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	150					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G150G(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCACCTGGGCGCCATGGGCC	0.672																																					p.G150G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C450T	5						.						50.0	51.0	51.0					5																	145719440		2203	4298	6501	145699633	SO:0001819	synonymous_variant	5459	exon2			U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.450C>T	5.37:g.145719440C>T			145699633	NM_002700	O60557|Q2M3F8	Silent	SNP	ENST00000230732.4	37	CCDS4281.1																																																																																				0.672	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700	
CSNK1A1	1452	broad.mit.edu	37	5	148886677	148886677	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:148886677G>A	ENST00000377843.2	-	8	1249	c.770C>T	c.(769-771)gCg>gTg	p.A257V	CSNK1A1_ENST00000515435.1_Missense_Mutation_p.A196V|CSNK1A1_ENST00000606299.1_Missense_Mutation_p.A17V|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.A168V|CSNK1A1_ENST00000606719.1_Missense_Mutation_p.A54V|CSNK1A1_ENST00000261798.5_Missense_Mutation_p.A257V|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.A285V	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A257V(1)|p.A285V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TAAGTACATCGCAAATTCTGC	0.358																																					p.A257V	Colon(5;64 69 1309 10383)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C770T	5						.						47.0	49.0	48.0					5																	148886677		2201	4300	6501	148866870	SO:0001583	missense	1452	exon8			AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"""clock regulator kinase"""	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.770C>T	5.37:g.148886677G>A	ENSP00000367074:p.Ala257Val		148866870	NM_001892	D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Missense_Mutation	SNP	ENST00000377843.2	37	CCDS47303.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.365908|4.365908	0.82463|0.82463	.|.	.|.	ENSG00000113712|ENSG00000113712	ENST00000261798;ENST00000377843;ENST00000504676;ENST00000515435;ENST00000322237;ENST00000515768|ENST00000503350	T;T;T;T;T|.	0.06449|.	3.3;3.3;3.3;3.3;3.3|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|.	0.61185|.	0.2327|.	L|L	0.31926|0.31926	0.97|0.97	0.80722|0.80722	D|D	1|1	B;B;B;P;P;B|.	0.49447|.	0.094;0.193;0.179;0.924;0.815;0.313|.	B;B;B;B;B;B|.	0.37943|.	0.053;0.086;0.027;0.224;0.261;0.039|.	T|.	0.53136|.	-0.8481|.	10|.	0.40728|.	T|.	0.16|.	.|.	20.1535|20.1535	0.98095|0.98095	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	196;196;257;257;285;168|.	B4DER9;E7ETM0;Q71TU5;P48729;P48729-2;D6REM4|.	.;.;.;KC1A_HUMAN;.;.|.	V|X	257;257;168;196;257;285|88	ENSP00000261798:A257V;ENSP00000367074:A257V;ENSP00000426747:A168V;ENSP00000427031:A196V;ENSP00000421689:A285V|.	ENSP00000261798:A257V|.	A|R	-|-	2|1	0|2	CSNK1A1|CSNK1A1	148866870|148866870	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.625000|7.625000	0.83145|0.83145	2.764000|2.764000	0.94973|0.94973	0.650000|0.650000	0.86243|0.86243	GCG|CGA		0.358	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001892	
SLC6A7	6534	broad.mit.edu	37	5	149583576	149583576	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:149583576T>C	ENST00000230671.2	+	10	1678	c.1307T>C	c.(1306-1308)cTg>cCg	p.L436P	SLC6A7_ENST00000524041.1_Missense_Mutation_p.L436P	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	436					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)	p.L436P(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GCCATGTACCTGATGGGGCTG	0.592																																					p.L436P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1307C	5						.						84.0	58.0	67.0					5																	149583576		2203	4300	6503	149563769	SO:0001583	missense	6534	exon10			S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.1307T>C	5.37:g.149583576T>C	ENSP00000230671:p.Leu436Pro		149563769	NM_014228	Q0VG81|Q52LU6	Missense_Mutation	SNP	ENST00000230671.2	37	CCDS4305.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.508023	0.85282	.	.	ENSG00000011083	ENST00000230671;ENST00000524041	T;T	0.79141	-1.24;-1.24	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.92211	0.7530	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94861	0.8022	10	0.87932	D	0	.	15.0306	0.71705	0.0:0.0:0.0:1.0	.	436	Q99884	SC6A7_HUMAN	P	436	ENSP00000230671:L436P;ENSP00000428200:L436P	ENSP00000230671:L436P	L	+	2	0	SLC6A7	149563769	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.859000	0.86982	1.939000	0.56221	0.533000	0.62120	CTG		0.592	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228	
TNIP1	10318	broad.mit.edu	37	5	150436467	150436467	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:150436467G>A	ENST00000389378.2	-	6	1075	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	TNIP1_ENST00000521591.1_Missense_Mutation_p.R163C|TNIP1_ENST00000524280.1_Missense_Mutation_p.R163C|TNIP1_ENST00000523338.1_Missense_Mutation_p.R163C|TNIP1_ENST00000520931.1_Missense_Mutation_p.R110C|TNIP1_ENST00000315050.7_Missense_Mutation_p.R163C|TNIP1_ENST00000522226.1_Missense_Mutation_p.R163C|TNIP1_ENST00000518977.1_Missense_Mutation_p.R163C|TNIP1_ENST00000523200.1_Missense_Mutation_p.R163C	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	163	Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)	p.R163C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCTCCAGGCGCTGCAGGTGC	0.672																																					p.R163C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C487T	5						.						31.0	33.0	32.0					5																	150436467		2203	4299	6502	150416660	SO:0001583	missense	10318	exon6			AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.487C>T	5.37:g.150436467G>A	ENSP00000374029:p.Arg163Cys		150416660	NM_006058	A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365133	0.82463	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840;ENST00000522100	T;T;T;T;T;T;T;T;T;T	0.21191	2.23;2.27;2.27;2.27;2.27;2.27;2.27;2.3;2.3;2.02	5.03	5.03	0.67393	.	0.055923	0.64402	D	0.000001	T	0.49029	0.1533	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.81914	0.982;0.992;0.984;0.992;0.992;0.995;0.995	T	0.52396	-0.8581	10	0.72032	D	0.01	-18.5903	18.7117	0.91659	0.0:0.0:1.0:0.0	.	163;117;117;163;163;163;163	B7Z8K2;A4F1X9;A4F1X7;E7EPY1;E7ET96;A4F1W9;Q15025	.;.;.;.;.;.;TNIP1_HUMAN	C	110;163;163;163;120;120;125;163;163;163;163;163;120;110	ENSP00000429891:R110C;ENSP00000374029:R163C;ENSP00000317891:R163C;ENSP00000428243:R163C;ENSP00000428187:R163C;ENSP00000430760:R163C;ENSP00000430971:R163C;ENSP00000429912:R163C;ENSP00000431105:R163C;ENSP00000428487:R110C	ENSP00000317891:R163C	R	-	1	0	TNIP1	150416660	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.464000	0.53057	2.489000	0.83994	0.655000	0.94253	CGC		0.672	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058	
SLC36A3	285641	broad.mit.edu	37	5	150663634	150663634	+	Silent	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:150663634G>T	ENST00000335230.3	-	8	1356	c.945C>A	c.(943-945)gcC>gcA	p.A315A	SLC36A3_ENST00000377713.3_Silent_p.A356A	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	315						integral component of membrane (GO:0016021)		p.A315A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTGATGCTGGCCTGGGTGT	0.493																																					p.A315A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C945A	5						.						182.0	155.0	164.0					5																	150663634		2203	4300	6503	150643827	SO:0001819	synonymous_variant	285641	exon8			AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.945C>A	5.37:g.150663634G>T			150643827	NM_181774	Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Silent	SNP	ENST00000335230.3	37	CCDS4314.1																																																																																				0.493	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774	
FAT2	2196	broad.mit.edu	37	5	150933923	150933923	+	Splice_Site	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:150933923C>T	ENST00000261800.5	-	4	3957	c.3945G>A	c.(3943-3945)acG>acA	p.T1315T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1315	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T1315T(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCTGCTCACCGTTAGGATGT	0.542																																					p.T1315T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3945A	5						.						65.0	60.0	62.0					5																	150933923		2203	4300	6503	150914116	SO:0001630	splice_region_variant	2196	exon4			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3945+1G>A	5.37:g.150933923C>T			150914116	NM_001447	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1																																																																																				0.542	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	Silent
GALNT10	55568	broad.mit.edu	37	5	153674442	153674442	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:153674442G>A	ENST00000297107.6	+	2	363	c.226G>A	c.(226-228)Gac>Aac	p.D76N	GALNT10_ENST00000377661.2_Missense_Mutation_p.D76N|GALNT10_ENST00000425427.2_Missense_Mutation_p.D76N	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	76					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.D76N(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGACTGGCATGACAAGGAGGC	0.493																																					p.D76N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G226A	5						.						102.0	93.0	96.0					5																	153674442		2203	4300	6503	153654635	SO:0001583	missense	55568	exon2			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.226G>A	5.37:g.153674442G>A	ENSP00000297107:p.Asp76Asn		153654635	NM_198321	B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428432	0.43122	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.57107	0.64;0.42;0.5	5.65	2.89	0.33648	.	0.462530	0.24461	N	0.038327	T	0.34250	0.0891	N	0.21282	0.65	0.80722	D	1	B;B	0.17852	0.0;0.024	B;B	0.16289	0.002;0.015	T	0.06320	-1.0833	10	0.26408	T	0.33	.	8.5322	0.33342	0.3329:0.0:0.6671:0.0	.	76;76	Q86SR1;Q86SR1-3	GLT10_HUMAN;.	N	76	ENSP00000415210:D76N;ENSP00000297107:D76N;ENSP00000366889:D76N	ENSP00000297107:D76N	D	+	1	0	GALNT10	153654635	0.999000	0.42202	0.718000	0.30602	0.902000	0.53008	2.980000	0.49321	0.407000	0.25591	-0.137000	0.14449	GAC		0.493	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321	
RNF145	153830	broad.mit.edu	37	5	158588366	158588366	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:158588366G>A	ENST00000424310.2	-	10	1893	c.1534C>T	c.(1534-1536)Cgc>Tgc	p.R512C	RNF145_ENST00000519865.1_Missense_Mutation_p.R512C|RNF145_ENST00000518802.1_Missense_Mutation_p.R542C|RNF145_ENST00000521606.2_Missense_Mutation_p.R529C|RNF145_ENST00000520638.1_Missense_Mutation_p.R526C|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000274542.2_Missense_Mutation_p.R540C	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	512						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.R540C(1)		endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCATCCCTGCGGAGAAGAAAG	0.453																																					p.R526C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1576T	5						.						47.0	47.0	47.0					5																	158588366		2203	4300	6503	158520944	SO:0001583	missense	153830	exon10			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.1534C>T	5.37:g.158588366G>A	ENSP00000409064:p.Arg512Cys		158520944	NM_001199382	B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466059	0.84425	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	D;D;D;D;D;D;D	0.82619	-1.63;-1.61;-1.61;-1.62;-1.62;-1.62;-1.62	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.92619	0.7655	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.994;0.999;0.994;0.999	D	0.92358	0.5895	10	0.66056	D	0.02	-16.4831	20.6439	0.99570	0.0:0.0:1.0:0.0	.	529;526;542;512;540	B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;RN145_HUMAN;.	C	540;512;512;528;529;542;512;526	ENSP00000274542:R540C;ENSP00000430397:R512C;ENSP00000409064:R512C;ENSP00000430753:R528C;ENSP00000445115:R529C;ENSP00000430955:R542C;ENSP00000429071:R526C	ENSP00000274542:R540C	R	-	1	0	RNF145	158520944	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.266000	0.72540	2.890000	0.99128	0.650000	0.86243	CGC		0.453	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726	
RNF145	153830	broad.mit.edu	37	5	158590070	158590070	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:158590070A>G	ENST00000424310.2	-	9	1498	c.1139T>C	c.(1138-1140)tTc>tCc	p.F380S	RNF145_ENST00000519865.1_Missense_Mutation_p.F380S|RNF145_ENST00000518802.1_Missense_Mutation_p.F410S|RNF145_ENST00000521606.2_Missense_Mutation_p.F397S|RNF145_ENST00000520638.1_Missense_Mutation_p.F394S|RNF145_ENST00000518284.1_5'Flank|RNF145_ENST00000274542.2_Missense_Mutation_p.F408S	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	380						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.F408S(1)		endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACAGCACGGAAGTGTTTCCA	0.393																																					p.F394S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1181C	5						.						55.0	54.0	55.0					5																	158590070		2203	4299	6502	158522648	SO:0001583	missense	153830	exon9			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.1139T>C	5.37:g.158590070A>G	ENSP00000409064:p.Phe380Ser		158522648	NM_001199382	B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.106802	0.77096	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.79749	-1.3;-1.28;-1.28;-1.29;-1.29;-1.3;-1.29	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.80864	0.4705	N	0.22421	0.69	0.80722	D	1	D;D;D;D;D	0.63880	0.993;0.993;0.993;0.983;0.991	P;P;P;P;P	0.60012	0.867;0.867;0.867;0.831;0.791	T	0.80701	-0.1265	10	0.35671	T	0.21	-22.0563	15.4427	0.75200	1.0:0.0:0.0:0.0	.	397;394;410;380;408	B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;RN145_HUMAN;.	S	408;380;380;396;397;410;380;394	ENSP00000274542:F408S;ENSP00000430397:F380S;ENSP00000409064:F380S;ENSP00000430753:F396S;ENSP00000445115:F397S;ENSP00000430955:F410S;ENSP00000429071:F394S	ENSP00000274542:F408S	F	-	2	0	RNF145	158522648	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	9.339000	0.96797	2.068000	0.61886	0.482000	0.46254	TTC		0.393	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726	
RNF145	153830	broad.mit.edu	37	5	158601112	158601112	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:158601112C>T	ENST00000424310.2	-	6	1035	c.676G>A	c.(676-678)Gta>Ata	p.V226I	RNF145_ENST00000519865.1_Missense_Mutation_p.V226I|RNF145_ENST00000518802.1_Missense_Mutation_p.V256I|RNF145_ENST00000521606.2_Missense_Mutation_p.V243I|RNF145_ENST00000520638.1_Missense_Mutation_p.V240I|RNF145_ENST00000274542.2_Missense_Mutation_p.V254I	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	226						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.V254I(1)		endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAGGGACTACCAGTTGATTC	0.433																																					p.V240I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G718A	5						.						80.0	72.0	75.0					5																	158601112		2203	4300	6503	158533690	SO:0001583	missense	153830	exon6			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.676G>A	5.37:g.158601112C>T	ENSP00000409064:p.Val226Ile		158533690	NM_001199382	B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859445	0.71834	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.76968	-1.06;-1.05;-1.05;-1.05;-1.05;-1.06;-1.05	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.68659	0.3025	N	0.08118	0	0.80722	D	1	P;P;P;P;P;P	0.48911	0.897;0.897;0.897;0.897;0.917;0.874	P;P;P;P;P;B	0.48524	0.498;0.498;0.498;0.498;0.58;0.365	T	0.69939	-0.5009	10	0.28530	T	0.3	-12.9464	19.1722	0.93583	0.0:1.0:0.0:0.0	.	242;243;240;256;226;254	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;.;RN145_HUMAN;.	I	254;226;226;242;243;256;226;240	ENSP00000274542:V254I;ENSP00000430397:V226I;ENSP00000409064:V226I;ENSP00000430753:V242I;ENSP00000445115:V243I;ENSP00000430955:V256I;ENSP00000429071:V240I	ENSP00000274542:V254I	V	-	1	0	RNF145	158533690	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.604000	0.88044	0.557000	0.71058	GTA		0.433	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726	
UBLCP1	134510	broad.mit.edu	37	5	158710265	158710265	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:158710265G>T	ENST00000296786.6	+	10	1173	c.847G>T	c.(847-849)Gaa>Taa	p.E283*		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	283	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.|Phosphatase.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)	p.E283*(1)		endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAAAGACAAAGAACTTTTAAA	0.308																																					p.E283X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G847T	5						.						96.0	98.0	98.0					5																	158710265		2203	4292	6495	158642843	SO:0001587	stop_gained	134510	exon10			AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	28110	protein-coding gene	gene with protein product	"""CTD phosphatase-like with ubiquitin domain 1"""	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.847G>T	5.37:g.158710265G>T	ENSP00000296786:p.Glu283*		158642843	NM_145049	D3DQJ7|Q96DK5	Nonsense_Mutation	SNP	ENST00000296786.6	37	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	G	39	7.840742	0.98519	.	.	ENSG00000164332	ENST00000296786	.	.	.	5.65	4.78	0.61160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.1186	14.7521	0.69533	0.0:0.0:0.8554:0.1446	.	.	.	.	X	283	.	ENSP00000296786:E283X	E	+	1	0	UBLCP1	158642843	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.420000	0.97426	1.514000	0.48869	0.655000	0.94253	GAA		0.308	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049	
C1QTNF2	114898	broad.mit.edu	37	5	159781983	159781983	+	Silent	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:159781983G>T	ENST00000393975.3	-	2	174	c.171C>A	c.(169-171)ccC>ccA	p.P57P		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	12	Collagen-like.				activation of MAPK activity (GO:0000187)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)		p.P57P(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCAGCACAGGGGAGGGCAC	0.662																																					p.P57P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C171A	5						.						38.0	37.0	37.0					5																	159781983		2201	4300	6501	159714561	SO:0001819	synonymous_variant	114898	exon2			AF329836	CCDS4351.2	5q33.3	2008-05-15			ENSG00000145861	ENSG00000145861			14325	protein-coding gene	gene with protein product							Standard	XM_005265815		Approved	CTRP2	uc003lyd.3	Q9BXJ5	OTTHUMG00000130323	ENST00000393975.3:c.171C>A	5.37:g.159781983G>T			159714561	NM_031908		Silent	SNP	ENST00000393975.3	37	CCDS4351.2																																																																																				0.662	C1QTNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252672.2		
GABRG2	2566	broad.mit.edu	37	5	161495076	161495076	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:161495076C>T	ENST00000361925.4	+	1	291	c.71C>T	c.(70-72)aCg>aTg	p.T24M	GABRG2_ENST00000356592.3_Missense_Mutation_p.T24M|GABRG2_ENST00000414552.2_Missense_Mutation_p.T24M|GABRG2_ENST00000393933.4_5'UTR			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	24					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T24M(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAGAAAATGACGGTGTGGATT	0.498																																					p.T24M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C71T	5						.						94.0	87.0	89.0					5																	161495076		2203	4300	6503	161427654	SO:0001583	missense	2566	exon1				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.71C>T	5.37:g.161495076C>T	ENSP00000354651:p.Thr24Met		161427654	NM_198904	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522394	0.27211	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925	T;T;T	0.80393	-1.37;-0.82;-1.37	5.08	4.08	0.47627	.	0.576034	0.19615	N	0.110029	T	0.58075	0.2097	N	0.08118	0	0.80722	D	1	B;B;B	0.15141	0.012;0.001;0.0	B;B;B	0.12837	0.008;0.001;0.001	T	0.55042	-0.8202	10	0.30078	T	0.28	.	4.5462	0.12081	0.0:0.7292:0.0:0.2708	.	24;24;24	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	M	24	ENSP00000349000:T24M;ENSP00000410732:T24M;ENSP00000354651:T24M	ENSP00000349000:T24M	T	+	2	0	GABRG2	161427654	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.286000	0.43496	2.365000	0.80145	0.491000	0.48974	ACG		0.498	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
WWC1	23286	broad.mit.edu	37	5	167855047	167855047	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:167855047C>T	ENST00000265293.4	+	12	2322	c.1820C>T	c.(1819-1821)aCg>aTg	p.T607M	WWC1_ENST00000521089.1_Missense_Mutation_p.T607M	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	607					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)	p.T607M(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCTGTGAATACGGCCCAGGGG	0.552																																					p.T607M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1820T	5						.						85.0	78.0	81.0					5																	167855047		2203	4300	6503	167787625	SO:0001583	missense	23286	exon12			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1820C>T	5.37:g.167855047C>T	ENSP00000265293:p.Thr607Met		167787625	NM_001161661	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708203	0.30322	.	.	ENSG00000113645	ENST00000265293;ENST00000521089	T;T	0.19394	2.15;2.15	5.18	-1.24	0.09435	.	1.588400	0.03082	N	0.158592	T	0.14442	0.0349	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.20052	0.01;0.027;0.041;0.008	B;B;B;B	0.14578	0.006;0.005;0.011;0.003	T	0.26292	-1.0107	10	0.33940	T	0.23	.	6.8409	0.23963	0.1133:0.4656:0.0:0.4211	.	607;513;513;607	Q8IX03-2;F5H498;B3KX05;Q8IX03	.;.;.;KIBRA_HUMAN	M	607	ENSP00000265293:T607M;ENSP00000427772:T607M	ENSP00000265293:T607M	T	+	2	0	WWC1	167787625	.	.	0.000000	0.03702	0.472000	0.32918	.	.	-0.129000	0.11620	-0.136000	0.14681	ACG		0.552	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238	
DOCK2	1794	broad.mit.edu	37	5	169469027	169469027	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:169469027A>C	ENST00000256935.8	+	38	3847	c.3767A>C	c.(3766-3768)gAg>gCg	p.E1256A	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.E748A|DOCK2_ENST00000540750.1_Missense_Mutation_p.E317A	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1256	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.E1256A(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTCGGATGAGCAGTGTGCA	0.567																																					p.E1256A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3767C	5						.						67.0	56.0	60.0					5																	169469027		2203	4300	6503	169401605	SO:0001583	missense	1794	exon38			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3767A>C	5.37:g.169469027A>C	ENSP00000256935:p.Glu1256Ala		169401605	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.353015	0.61293	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.09255	3.63;3.27;3.0	5.18	5.18	0.71444	.	0.057294	0.64402	D	0.000002	T	0.14056	0.0340	M	0.62723	1.935	0.50467	D	0.999874	P;B	0.35780	0.52;0.105	B;B	0.34452	0.183;0.036	T	0.03807	-1.1002	10	0.30854	T	0.27	.	15.3263	0.74164	1.0:0.0:0.0:0.0	.	748;1256	E7ERW7;Q92608	.;DOCK2_HUMAN	A	1256;748;317	ENSP00000256935:E1256A;ENSP00000429283:E748A;ENSP00000438827:E317A	ENSP00000256935:E1256A	E	+	2	0	DOCK2	169401605	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	9.287000	0.95975	2.084000	0.62774	0.459000	0.35465	GAG		0.567	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
MSX2	4488	broad.mit.edu	37	5	174156219	174156219	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:174156219G>A	ENST00000239243.6	+	2	564	c.437G>A	c.(436-438)cGc>cAc	p.R146H	MSX2_ENST00000507785.1_3'UTR	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	146					activation of meiosis (GO:0090427)|anagen (GO:0042640)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone trabecula formation (GO:0060346)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte development (GO:0002063)|cranial suture morphogenesis (GO:0060363)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|enamel mineralization (GO:0070166)|endochondral bone growth (GO:0003416)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|frontal suture morphogenesis (GO:0060364)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of catagen (GO:0051795)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of osteoblast differentiation (GO:0045669)|signal transduction involved in regulation of gene expression (GO:0023019)|wound healing, spreading of epidermal cells (GO:0035313)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.R146H(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CGGAAGCCGCGCACGCCCTTT	0.542																																					p.R146H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G437A	5						.						60.0	53.0	55.0					5																	174156219		2203	4300	6503	174088825	SO:0001583	missense	4488	exon2			D26145	CCDS4392.1	5q35.2	2011-06-20	2006-11-21		ENSG00000120149	ENSG00000120149		"""Homeoboxes / ANTP class : NKL subclass"""	7392	protein-coding gene	gene with protein product	"""craniosynostosis, type 2"""	123101	"""msh (Drosophila) homeo box homolog 2"", ""parietal foramina 1"", ""msh homeobox homolog 2 (Drosophila)"""	PFM1		8668339, 8786091	Standard	XM_006714868		Approved	CRS2, FPP, HOX8, MSH, PFM	uc003mcy.3	P35548	OTTHUMG00000130556	ENST00000239243.6:c.437G>A	5.37:g.174156219G>A	ENSP00000239243:p.Arg146His		174088825	NM_002449	D3DQN1|Q53XM4|Q9UD60	Missense_Mutation	SNP	ENST00000239243.6	37	CCDS4392.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814781	0.70912	.	.	ENSG00000120149	ENST00000239243	D	0.99167	-5.51	5.72	5.72	0.89469	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99661	0.9874	H	0.99379	4.54	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.97388	0.9987	10	0.87932	D	0	-13.9786	16.1421	0.81534	0.0:0.0:0.866:0.134	.	146	P35548	MSX2_HUMAN	H	146	ENSP00000239243:R146H	ENSP00000239243:R146H	R	+	2	0	MSX2	174088825	1.000000	0.71417	0.719000	0.30619	0.221000	0.24807	7.958000	0.87877	2.702000	0.92279	0.591000	0.81541	CGC		0.542	MSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252981.3		
CDHR2	54825	broad.mit.edu	37	5	176008367	176008367	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:176008367C>T	ENST00000510636.1	+	17	2116	c.1842C>T	c.(1840-1842)ggC>ggT	p.G614G	CDHR2_ENST00000506348.1_Silent_p.G614G|CDHR2_ENST00000261944.5_Silent_p.G614G	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	614	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G614G(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ATGAGCCGGGCACCAACAACA	0.642																																					p.G614G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1842T	5						.						70.0	59.0	63.0					5																	176008367		2203	4300	6503	175940973	SO:0001819	synonymous_variant	54825	exon17			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1842C>T	5.37:g.176008367C>T			175940973	NM_001171976	A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	CCDS34297.1																																																																																				0.642	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675	
HK3	3101	broad.mit.edu	37	5	176308393	176308393	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:176308393G>A	ENST00000292432.5	-	18	2628	c.2537C>T	c.(2536-2538)gCc>gTc	p.A846V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	846	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)	p.A846V(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCACCACGGCAGCTACACC	0.652																																					p.A846V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2537T	5						.						62.0	68.0	66.0					5																	176308393		2203	4300	6503	176240999	SO:0001583	missense	3101	exon18				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2537C>T	5.37:g.176308393G>A	ENSP00000292432:p.Ala846Val		176240999	NM_002115	Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902346	0.72754	.	.	ENSG00000160883	ENST00000292432	D	0.99143	-5.48	4.83	4.83	0.62350	Hexokinase, C-terminal (1);	0.000000	0.52532	D	0.000078	D	0.99539	0.9835	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98008	1.0364	10	0.87932	D	0	.	18.0683	0.89398	0.0:0.0:1.0:0.0	.	846	P52790	HXK3_HUMAN	V	846	ENSP00000292432:A846V	ENSP00000292432:A846V	A	-	2	0	HK3	176240999	1.000000	0.71417	0.946000	0.38457	0.329000	0.28539	7.717000	0.84732	2.667000	0.90743	0.561000	0.74099	GCC		0.652	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1		
F12	2161	broad.mit.edu	37	5	176833048	176833048	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:176833048C>T	ENST00000253496.3	-	3	178	c.130G>A	c.(130-132)Ggg>Agg	p.G44R	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	44	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.G44R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	CAGGGCTCCCCGGTGACAGTG	0.592									Hereditary Angioedema																												p.G44R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G130A	5						.						83.0	83.0	83.0					5																	176833048		2203	4300	6503	176765654	SO:0001583	missense	2161	exon3	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.130G>A	5.37:g.176833048C>T	ENSP00000253496:p.Gly44Arg		176765654	NM_000505	P78339	Missense_Mutation	SNP	ENST00000253496.3	37	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595369	0.86953	.	.	ENSG00000131187	ENST00000253496	D	0.87029	-2.2	5.31	5.31	0.75309	Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);	0.000000	0.48286	D	0.000181	D	0.94683	0.8285	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95167	0.8286	10	0.54805	T	0.06	.	15.8992	0.79359	0.0:1.0:0.0:0.0	.	44	P00748	FA12_HUMAN	R	44	ENSP00000253496:G44R	ENSP00000253496:G44R	G	-	1	0	F12	176765654	0.975000	0.34042	0.981000	0.43875	0.988000	0.76386	3.055000	0.49916	2.500000	0.84329	0.591000	0.81541	GGG		0.592	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1		
RMND5B	64777	broad.mit.edu	37	5	177571044	177571044	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:177571044C>T	ENST00000515098.1	+	8	980	c.629C>T	c.(628-630)gCg>gTg	p.A210V	RMND5B_ENST00000542098.1_Missense_Mutation_p.A197V|RMND5B_ENST00000313386.4_Missense_Mutation_p.A210V			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	210	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.							p.A210V(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGGCCCCGCGAAGCAGCTG	0.662																																					p.A210V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C629T	5						.						49.0	52.0	51.0					5																	177571044		2203	4300	6503	177503650	SO:0001583	missense	64777	exon7			BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog B"""					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.629C>T	5.37:g.177571044C>T	ENSP00000420875:p.Ala210Val		177503650	NM_022762	Q1HE27|Q6UVY7|Q9H6F6	Missense_Mutation	SNP	ENST00000515098.1	37	CCDS4431.1	.	.	.	.	.	.	.	.	.	.	C	6.063	0.379924	0.11466	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098	.	.	.	4.3	3.14	0.36123	Ran binding protein-like, CRA domain (1);CTLH, C-terminal LisH motif (2);	0.415042	0.26369	N	0.024767	T	0.19127	0.0459	N	0.19112	0.55	0.19575	N	0.999965	B;B;B	0.24368	0.102;0.083;0.002	B;B;B	0.20767	0.031;0.018;0.007	T	0.13522	-1.0506	9	0.27785	T	0.31	-12.9174	5.0609	0.14557	0.6257:0.1919:0.0:0.1824	.	197;197;210	B3KSG5;F5H6G4;Q96G75	.;.;RMD5B_HUMAN	V	210;210;197	.	ENSP00000320623:A210V	A	+	2	0	RMND5B	177503650	1.000000	0.71417	0.974000	0.42286	0.263000	0.26337	1.368000	0.34216	0.687000	0.31509	-0.875000	0.02981	GCG		0.662	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762	
ADCY2	108	broad.mit.edu	37	5	7784558	7784558	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:7784558G>T	ENST00000338316.4	+	19	2554	c.2465G>T	c.(2464-2466)aGa>aTa	p.R822I	ADCY2_ENST00000537121.1_Missense_Mutation_p.R642I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	822					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.R822I(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GTTCTGGGTAGACAGGTAAGA	0.378																																					p.R822I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2465T	5						.						139.0	134.0	135.0					5																	7784558		2203	4300	6503	7837558	SO:0001583	missense	108	exon19			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2465G>T	5.37:g.7784558G>T	ENSP00000342952:p.Arg822Ile		7837558	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431726	0.83776	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;D	0.84516	-1.4;-1.86	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.90273	0.6958	M	0.92367	3.3	0.80722	D	1	B;P	0.44816	0.447;0.844	B;B	0.41764	0.178;0.366	D	0.92464	0.5980	10	0.87932	D	0	.	19.7784	0.96405	0.0:0.0:1.0:0.0	.	642;822	B7Z2C1;Q08462	.;ADCY2_HUMAN	I	822;655;642	ENSP00000342952:R822I;ENSP00000444803:R642I	ENSP00000342952:R822I	R	+	2	0	ADCY2	7837558	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	7.384000	0.79751	2.658000	0.90341	0.591000	0.81541	AGA		0.378	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
SEMA5A	9037	broad.mit.edu	37	5	9190440	9190440	+	Silent	SNP	G	G	A	rs200493185		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:9190440G>A	ENST00000382496.5	-	11	1877	c.1212C>T	c.(1210-1212)caC>caT	p.H404H		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	404	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.H404H(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CGACTGCCACGTGGGAAAAGC	0.552																																					p.H404H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1212T	5						.						109.0	88.0	95.0					5																	9190440		2203	4300	6503	9243440	SO:0001819	synonymous_variant	9037	exon11			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1212C>T	5.37:g.9190440G>A			9243440	NM_003966	D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	CCDS3875.1																																																																																				0.552	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2		
RAI14	26064	broad.mit.edu	37	5	34823169	34823169	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:34823169G>T	ENST00000265109.3	+	15	1509	c.1222G>T	c.(1222-1224)Gac>Tac	p.D408Y	RAI14_ENST00000512629.1_Missense_Mutation_p.D379Y|RAI14_ENST00000503673.1_Missense_Mutation_p.D408Y|RAI14_ENST00000428746.2_Missense_Mutation_p.D408Y|RAI14_ENST00000397449.1_Missense_Mutation_p.D401Y|RAI14_ENST00000506376.1_Missense_Mutation_p.D400Y|RAI14_ENST00000515799.1_Missense_Mutation_p.D411Y	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	408						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.D408Y(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTCTCCCCCAGACTCCAAATC	0.458																																					p.D379Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1135T	5						.						85.0	87.0	86.0					5																	34823169		2203	4300	6503	34858926	SO:0001583	missense	26064	exon14			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1222G>T	5.37:g.34823169G>T	ENSP00000265109:p.Asp408Tyr		34858926	NM_001145522	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150881	0.37923	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.37411	1.24;1.2;1.24;1.24;1.24;1.28;1.27	4.91	3.11	0.35812	.	.	.	.	.	T	0.33527	0.0866	N	0.19112	0.55	0.20196	N	0.999929	P;P;P;P	0.47253	0.892;0.681;0.786;0.681	P;B;B;B	0.50537	0.643;0.254;0.439;0.254	T	0.12915	-1.0529	9	0.59425	D	0.04	-6.5681	11.0064	0.47637	0.0715:0.13:0.7985:0.0	.	400;379;411;408	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	Y	408;379;408;408;411;400;401	ENSP00000265109:D408Y;ENSP00000422377:D379Y;ENSP00000388725:D408Y;ENSP00000422942:D408Y;ENSP00000427123:D411Y;ENSP00000423854:D400Y;ENSP00000380591:D401Y	ENSP00000265109:D408Y	D	+	1	0	RAI14	34858926	1.000000	0.71417	0.102000	0.21198	0.950000	0.60333	5.169000	0.64984	0.742000	0.32697	0.555000	0.69702	GAC		0.458	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	
RAI14	26064	broad.mit.edu	37	5	34824014	34824014	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:34824014C>T	ENST00000265109.3	+	15	2354	c.2067C>T	c.(2065-2067)aaC>aaT	p.N689N	RAI14_ENST00000512629.1_Silent_p.N660N|RAI14_ENST00000503673.1_Silent_p.N689N|RAI14_ENST00000428746.2_Silent_p.N689N|RAI14_ENST00000397449.1_Silent_p.N682N|RAI14_ENST00000506376.1_Silent_p.N681N|RAI14_ENST00000515799.1_Silent_p.N692N	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	689						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.N689N(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AATTGACAAACGTGTCCAGGG	0.438																																					p.N660N												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C1980T	5						.						87.0	85.0	86.0					5																	34824014		2203	4300	6503	34859771	SO:0001819	synonymous_variant	26064	exon14			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2067C>T	5.37:g.34824014C>T			34859771	NM_001145522	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	CCDS34142.1																																																																																				0.438	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	
EGFLAM	133584	broad.mit.edu	37	5	38370555	38370555	+	Silent	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:38370555C>A	ENST00000354891.3	+	6	1049	c.703C>A	c.(703-705)Cgg>Agg	p.R235R	EGFLAM_ENST00000322350.5_Silent_p.R235R	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	235	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.R235R(1)|p.R235W(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGACATCATCCGGACCCTCTG	0.577																																					p.R235R	Colon(62;485 1295 3347 17454)											.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|pancreas(1)	c.C703A	5						.						35.0	35.0	35.0					5																	38370555		2203	4300	6503	38406312	SO:0001819	synonymous_variant	133584	exon6			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.703C>A	5.37:g.38370555C>A			38406312	NM_152403	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	CCDS56363.1																																																																																				0.577	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403	
MROH2B	133558	broad.mit.edu	37	5	41049516	41049516	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:41049516G>T	ENST00000399564.4	-	14	1817	c.1367C>A	c.(1366-1368)aCt>aAt	p.T456N	MROH2B_ENST00000506092.2_Missense_Mutation_p.T11N	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	456								p.T456N(2)									TACCACAAAAGTCAGGATCCT	0.458																																					p.T456N												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.C1367A	5						.						63.0	59.0	60.0					5																	41049516		1898	4125	6023	41085273	SO:0001583	missense	133558	exon14				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1367C>A	5.37:g.41049516G>T	ENSP00000382476:p.Thr456Asn		41085273	NM_173489	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174440	0.38413	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.66995	3.19;-0.24	5.7	4.83	0.62350	Armadillo-type fold (1);	0.000000	0.46758	D	0.000276	T	0.72542	0.3473	L	0.54323	1.7	0.33885	D	0.636657	D	0.76494	0.999	D	0.69479	0.964	T	0.73033	-0.4110	10	0.18710	T	0.47	.	9.6167	0.39696	0.0921:0.0:0.9079:0.0	.	456	Q7Z745	HTRB2_HUMAN	N	11;160;456	ENSP00000441504:T11N;ENSP00000382476:T456N	ENSP00000296803:T160N	T	-	2	0	HEATR7B2	41085273	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	1.269000	0.33074	2.705000	0.92388	0.650000	0.86243	ACT		0.458	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
PAIP1	10605	broad.mit.edu	37	5	43543182	43543182	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:43543182G>T	ENST00000306846.3	-	4	890	c.658C>A	c.(658-660)Cgc>Agc	p.R220S	PAIP1_ENST00000338972.4_Missense_Mutation_p.R108S|PAIP1_ENST00000436644.2_Missense_Mutation_p.R141S|PAIP1_ENST00000514514.1_Missense_Mutation_p.R141S	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	220	MIF4G.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.R220S(1)|p.R220C(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TTACACAGGCGAGCTCCCATA	0.363																																					p.R108S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C322A	5						.						74.0	77.0	76.0					5																	43543182		2203	4300	6503	43578939	SO:0001583	missense	10605	exon4			AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.658C>A	5.37:g.43543182G>T	ENSP00000302768:p.Arg220Ser		43578939	NM_183323	A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039564	0.75732	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514;ENST00000511321;ENST00000508537;ENST00000504075	T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79	5.34	5.34	0.76211	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	M	0.78637	2.42	0.49915	D	0.999839	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.55995	-0.8052	10	0.72032	D	0.01	-6.2871	14.5863	0.68328	0.0:0.0:0.7863:0.2137	.	141;220;141	D6REB4;Q9H074;Q9H074-2	.;PAIP1_HUMAN;.	S	220;141;108;141;108;108;4	ENSP00000302768:R220S;ENSP00000387729:R141S;ENSP00000339622:R108S;ENSP00000425084:R141S;ENSP00000425675:R108S;ENSP00000425736:R108S	ENSP00000302768:R220S	R	-	1	0	PAIP1	43578939	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.280000	0.51677	2.494000	0.84150	0.585000	0.79938	CGC		0.363	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451	
HCN1	348980	broad.mit.edu	37	5	45262221	45262221	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:45262221C>T	ENST00000303230.4	-	8	2532	c.2475G>A	c.(2473-2475)acG>acA	p.T825T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	825					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.T825T(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CCTGAAGGCCCGTTCCGGGGA	0.672																																					p.T825T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2475A	5						.						29.0	32.0	31.0					5																	45262221		2203	4299	6502	45297978	SO:0001819	synonymous_variant	348980	exon8			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2475G>A	5.37:g.45262221C>T			45297978	NM_021072		Silent	SNP	ENST00000303230.4	37	CCDS3952.1																																																																																				0.672	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
HCN1	348980	broad.mit.edu	37	5	45262693	45262693	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:45262693T>C	ENST00000303230.4	-	8	2060	c.2003A>G	c.(2002-2004)tAc>tGc	p.Y668C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	668					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.Y668C(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGTCGCTGTGTACACCGGTGG	0.577																																					p.Y668C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2003G	5						.						145.0	142.0	143.0					5																	45262693		2203	4300	6503	45298450	SO:0001583	missense	348980	exon8			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2003A>G	5.37:g.45262693T>C	ENSP00000307342:p.Tyr668Cys		45298450	NM_021072		Missense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.671577	0.47781	.	.	ENSG00000164588	ENST00000303230	D	0.97575	-4.44	5.39	5.39	0.77823	.	0.000000	0.56097	D	0.000031	D	0.97269	0.9107	L	0.50333	1.59	0.49389	D	0.99978	D	0.76494	0.999	P	0.61328	0.887	D	0.97076	0.9781	10	0.40728	T	0.16	.	15.4226	0.75025	0.0:0.0:0.0:1.0	.	668	O60741	HCN1_HUMAN	C	668	ENSP00000307342:Y668C	ENSP00000307342:Y668C	Y	-	2	0	HCN1	45298450	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	3.098000	0.50259	2.046000	0.60703	0.460000	0.39030	TAC		0.577	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
HCN1	348980	broad.mit.edu	37	5	45396653	45396653	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:45396653C>A	ENST00000303230.4	-	4	1228	c.1171G>T	c.(1171-1173)Ggc>Tgc	p.G391C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	391					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.G391C(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTGGCATGGCCGACAAACATG	0.498																																					p.G391C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1171T	5						.						78.0	68.0	72.0					5																	45396653		2203	4300	6503	45432410	SO:0001583	missense	348980	exon4			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1171G>T	5.37:g.45396653C>A	ENSP00000307342:p.Gly391Cys		45432410	NM_021072		Missense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417017	0.83449	.	.	ENSG00000164588	ENST00000303230	D	0.99070	-5.39	5.42	4.53	0.55603	Ion transport (1);	0.085714	0.49305	D	0.000159	D	0.99450	0.9805	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98333	1.0534	10	0.87932	D	0	.	16.0987	0.81152	0.0:0.866:0.134:0.0	.	391	O60741	HCN1_HUMAN	C	391	ENSP00000307342:G391C	ENSP00000307342:G391C	G	-	1	0	HCN1	45432410	1.000000	0.71417	0.894000	0.35097	0.983000	0.72400	7.651000	0.83577	1.481000	0.48307	0.650000	0.86243	GGC		0.498	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
ISL1	3670	broad.mit.edu	37	5	50685508	50685508	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:50685508C>T	ENST00000230658.7	+	4	1092	c.507C>T	c.(505-507)gcC>gcT	p.A169A	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Silent_p.A169A	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	169					atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)	p.A169A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GGCAGCCAGCCCTGCGGCCCC	0.726																																					p.A169A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C507T	5						.						23.0	29.0	27.0					5																	50685508		2200	4298	6498	50721265	SO:0001819	synonymous_variant	3670	exon4			BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.507C>T	5.37:g.50685508C>T			50721265	NM_002202	P20663|P47894	Silent	SNP	ENST00000230658.7	37	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.550393	0.27739	.	.	ENSG00000016082	ENST00000505475	.	.	.	6.02	3.91	0.45181	.	.	.	.	.	T	0.65471	0.2694	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68465	-0.5401	5	0.87932	D	0	.	9.3899	0.38367	0.0:0.7424:0.0:0.2576	.	.	.	.	S	116	.	ENSP00000421737:P116S	P	+	1	0	ISL1	50721265	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.943000	0.29030	1.520000	0.48965	0.650000	0.86243	CCT		0.726	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202	
MAP3K1	4214	broad.mit.edu	37	5	56160643	56160643	+	Missense_Mutation	SNP	G	G	A	rs375262853		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:56160643G>A	ENST00000399503.3	+	4	917	c.917G>A	c.(916-918)cGc>cAc	p.R306H	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	306					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.R143H(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GAAACAAACCGCCGTGTTAAC	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		13872	0.001		0.0	False		,,,				2504	0.0				p.R306H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G917A	5						.						89.0	91.0	90.0					5																	56160643		1900	4105	6005	56196400	SO:0001583	missense	4214	exon4			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.917G>A	5.37:g.56160643G>A	ENSP00000382423:p.Arg306His		56196400	NM_005921		Missense_Mutation	SNP	ENST00000399503.3	37	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556833	0.86231	.	.	ENSG00000095015	ENST00000399503	T	0.69806	-0.43	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.77585	0.4152	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.78476	-0.2189	10	0.87932	D	0	.	20.0401	0.97581	0.0:0.0:1.0:0.0	.	306	Q13233	M3K1_HUMAN	H	306	ENSP00000382423:R306H	ENSP00000382423:R306H	R	+	2	0	MAP3K1	56196400	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	8.498000	0.90492	2.805000	0.96524	0.655000	0.94253	CGC		0.488	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066	
MIER3	166968	broad.mit.edu	37	5	56234723	56234723	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:56234723A>G	ENST00000381199.3	-	4	312	c.302T>C	c.(301-303)aTg>aCg	p.M101T	MIER3_ENST00000381226.3_Missense_Mutation_p.M106T|MIER3_ENST00000409421.1_Missense_Mutation_p.M38T|MIER3_ENST00000381213.3_Missense_Mutation_p.M101T|AC016644.1_ENST00000438553.1_RNA			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.M101T(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		GTCTAGTGTCATGTCTGGTAG	0.363																																					p.M101T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T302C	5						.						168.0	159.0	162.0					5																	56234723		2203	4300	6503	56270480	SO:0001583	missense	166968	exon4			BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.302T>C	5.37:g.56234723A>G	ENSP00000370596:p.Met101Thr		56270480	NM_152622	B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	ENST00000381199.3	37		.	.	.	.	.	.	.	.	.	.	A	18.32	3.598453	0.66332	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421;ENST00000336942	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.74	4.56	0.56223	.	0.034266	0.85682	D	0.000000	T	0.48150	0.1484	M	0.72894	2.215	0.58432	D	0.999999	D;D;B	0.63046	0.967;0.992;0.42	D;D;B	0.71656	0.916;0.974;0.198	T	0.51092	-0.8749	10	0.07030	T	0.85	-9.9882	13.0612	0.59008	0.8657:0.1343:0.0:0.0	.	101;106;101	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	T	106;101;101;38;74	ENSP00000370624:M106T;ENSP00000370611:M101T;ENSP00000370596:M101T;ENSP00000386584:M38T;ENSP00000337027:M74T	ENSP00000337027:M74T	M	-	2	0	MIER3	56270480	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.152000	0.94680	0.981000	0.38548	0.460000	0.39030	ATG		0.363	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622	
GPBP1	65056	broad.mit.edu	37	5	56527098	56527098	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:56527098G>A	ENST00000506184.2	+	5	1466	c.361G>A	c.(361-363)Ggg>Agg	p.G121R	GPBP1_ENST00000511209.1_Missense_Mutation_p.G128R|GPBP1_ENST00000264779.6_Missense_Mutation_p.G128R|GPBP1_ENST00000424459.3_Missense_Mutation_p.G121R|GPBP1_ENST00000454432.2_Missense_Mutation_p.G121R|GPBP1_ENST00000514387.2_5'UTR|GPBP1_ENST00000538707.1_Missense_Mutation_p.G128R			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	121					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G121R(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		CAATGAAACCGGGAGGAAAGA	0.388																																					p.G121R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G361A	5						.						94.0	91.0	92.0					5																	56527098		2203	4300	6503	56562855	SO:0001583	missense	65056	exon5				CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.361G>A	5.37:g.56527098G>A	ENSP00000421202:p.Gly121Arg		56562855	NM_022913	A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	ENST00000506184.2	37	CCDS34162.1	.	.	.	.	.	.	.	.	.	.	G	6.762	0.509475	0.12883	.	.	ENSG00000062194	ENST00000424459;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	5.76	5.76	0.90799	.	0.245199	0.41396	D	0.000900	T	0.33147	0.0853	L	0.44542	1.39	0.29783	N	0.833859	B;B;B;B	0.23316	0.083;0.066;0.027;0.038	B;B;B;B	0.18871	0.023;0.007;0.005;0.007	T	0.17899	-1.0354	10	0.19590	T	0.45	-9.2588	11.4354	0.50064	0.0:0.231:0.6442:0.1248	.	121;128;128;121	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	R	121;121;121;128;128;128	ENSP00000401596:G121R;ENSP00000421202:G121R;ENSP00000403522:G121R;ENSP00000422337:G128R;ENSP00000264779:G128R;ENSP00000440090:G128R	ENSP00000264779:G128R	G	+	1	0	GPBP1	56562855	0.999000	0.42202	0.960000	0.40013	0.870000	0.49936	3.210000	0.51129	2.721000	0.93114	0.591000	0.81541	GGG		0.388	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913	
RAB3C	115827	broad.mit.edu	37	5	57913527	57913527	+	Missense_Mutation	SNP	G	G	A	rs11550682		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:57913527G>A	ENST00000282878.4	+	2	251	c.82G>A	c.(82-84)Gac>Aac	p.D28N		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	28					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.D28N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		TCAGAACTTTGACTACATGTT	0.408																																					p.D28N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G82A	5						.						92.0	86.0	88.0					5																	57913527		2203	4300	6503	57949284	SO:0001583	missense	115827	exon2			AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"""RAB, member RAS oncogene"""	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.82G>A	5.37:g.57913527G>A	ENSP00000282878:p.Asp28Asn		57949284	NM_138453		Missense_Mutation	SNP	ENST00000282878.4	37	CCDS3976.1	.	.	.	.	.	.	.	.	.	.	G	35	5.485073	0.96323	.	.	ENSG00000152932	ENST00000282878	T	0.80304	-1.36	5.7	5.7	0.88788	.	0.190066	0.39341	N	0.001388	D	0.88273	0.6392	L	0.61218	1.895	0.80722	D	1	D	0.67145	0.996	D	0.64042	0.921	D	0.88698	0.3213	10	0.87932	D	0	-29.0131	19.8247	0.96612	0.0:0.0:1.0:0.0	.	28	Q96E17	RAB3C_HUMAN	N	28	ENSP00000282878:D28N	ENSP00000282878:D28N	D	+	1	0	RAB3C	57949284	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.869000	0.99810	2.696000	0.92011	0.655000	0.94253	GAC		0.408	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214156.2	NM_138453	
ZNF366	167465	broad.mit.edu	37	5	71739971	71739971	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:71739971C>T	ENST00000318442.5	-	5	2337	c.1847G>A	c.(1846-1848)tGc>tAc	p.C616Y	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	616	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.C616Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CTCCTCGTGGCAGTGGCTGCC	0.652																																					p.C616Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1847A	5						.						75.0	88.0	83.0					5																	71739971		2203	4299	6502	71775727	SO:0001583	missense	167465	exon5			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1847G>A	5.37:g.71739971C>T	ENSP00000313158:p.Cys616Tyr		71775727	NM_152625	Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885769	0.33255	.	.	ENSG00000178175	ENST00000318442	T	0.08896	3.04	5.87	4.04	0.47022	.	0.303070	0.34067	N	0.004287	T	0.07007	0.0178	L	0.34521	1.04	0.38015	D	0.93465	B	0.09022	0.002	B	0.06405	0.002	T	0.15954	-1.0419	10	0.72032	D	0.01	-14.032	7.2196	0.25979	0.1283:0.682:0.1237:0.0661	.	616	Q8N895	ZN366_HUMAN	Y	616	ENSP00000313158:C616Y	ENSP00000313158:C616Y	C	-	2	0	ZNF366	71775727	0.998000	0.40836	0.996000	0.52242	0.521000	0.34408	2.096000	0.41738	0.876000	0.35872	0.655000	0.94253	TGC		0.652	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3		
TNPO1	3842	broad.mit.edu	37	5	72196846	72196846	+	Silent	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:72196846A>G	ENST00000337273.5	+	22	2886	c.2460A>G	c.(2458-2460)tcA>tcG	p.S820S	TNPO1_ENST00000506351.2_Silent_p.S812S|TNPO1_ENST00000454282.1_Silent_p.S770S|TNPO1_ENST00000523768.1_Silent_p.S770S	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	820					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)	p.S812S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AAAAGGATTCAGCATTCCGTG	0.343																																					p.S812S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2436G	5						.						90.0	87.0	88.0					5																	72196846		2203	4300	6503	72232602	SO:0001819	synonymous_variant	3842	exon22			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2460A>G	5.37:g.72196846A>G			72232602	NM_153188	B4DVC6|Q92957|Q92975	Silent	SNP	ENST00000337273.5	37	CCDS43329.1																																																																																				0.343	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270	
FCHO2	115548	broad.mit.edu	37	5	72370577	72370577	+	Missense_Mutation	SNP	C	C	T	rs368140227	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:72370577C>T	ENST00000430046.2	+	20	1704	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	FCHO2_ENST00000512348.1_Missense_Mutation_p.R497W|FCHO2_ENST00000341845.6_Missense_Mutation_p.R530W	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	530	Mediates interaction with DAB2, EPS15, EPS15R and ITSN1.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.R530W(3)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		AGGTGTGTCACGGGGTCCCAG	0.403													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18479	0.0		0.0	False		,,,				2504	0.0				p.R497W												.	.	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)	c.C1489T	5						.	C	TRP/ARG,TRP/ARG	1,3747		0,1,1873	81.0	78.0	79.0		1489,1588	4.8	1.0	5		79	0,8208		0,0,4104	no	missense,missense	FCHO2	NM_001146032.1,NM_138782.2	101,101	0,1,5977	TT,TC,CC		0.0,0.0267,0.0084	probably-damaging,probably-damaging	497/778,530/811	72370577	1,11955	1874	4104	5978	72406333	SO:0001583	missense	115548	exon19			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.1588C>T	5.37:g.72370577C>T	ENSP00000393776:p.Arg530Trp		72406333	NM_001146032	A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	De_novo_Start_OutOfFrame	SNP	ENST00000430046.2	37	CCDS47230.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273686	0.80580	2.67E-4	0.0	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.44083	0.93;0.94;3.36	5.73	4.85	0.62838	.	0.123853	0.56097	D	0.000028	T	0.66317	0.2777	M	0.77313	2.365	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.982	T	0.72030	-0.4413	10	0.87932	D	0	-8.8324	16.0653	0.80867	0.1352:0.8648:0.0:0.0	.	497;530	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	W	530;530;497	ENSP00000393776:R530W;ENSP00000344034:R530W;ENSP00000427296:R497W	ENSP00000344034:R530W	R	+	1	2	FCHO2	72406333	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.729000	0.54999	1.401000	0.46761	0.555000	0.69702	CGG		0.403	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142	
CMYA5	202333	broad.mit.edu	37	5	79034791	79034791	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:79034791C>T	ENST00000446378.2	+	2	10234	c.10203C>T	c.(10201-10203)atC>atT	p.I3401I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3401					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.I3401I(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACCTAAAATCCTGGTCCCAC	0.453																																					p.I3401I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C10203T	5						.						78.0	76.0	77.0					5																	79034791		1925	4117	6042	79070547	SO:0001819	synonymous_variant	202333	exon2			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.10203C>T	5.37:g.79034791C>T			79070547	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	CCDS47238.1																																																																																				0.453	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
ACOT12	134526	broad.mit.edu	37	5	80631702	80631702	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:80631702C>A	ENST00000307624.3	-	12	1175	c.1147G>T	c.(1147-1149)Gaa>Taa	p.E383*	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	383	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.E383*(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TCATGCTCTTCCAGAGTATAT	0.333																																					p.E383X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1147T	5						.						47.0	53.0	51.0					5																	80631702		2203	4300	6503	80667458	SO:0001587	stop_gained	134526	exon12			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.1147G>T	5.37:g.80631702C>A	ENSP00000303246:p.Glu383*		80667458	NM_130767	B3KVK9|Q5FWE9	Nonsense_Mutation	SNP	ENST00000307624.3	37	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	C	39	7.524467	0.98339	.	.	ENSG00000172497	ENST00000307624	.	.	.	5.46	5.46	0.80206	.	0.055228	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.879	17.154	0.86785	0.0:1.0:0.0:0.0	.	.	.	.	X	383	.	ENSP00000303246:E383X	E	-	1	0	ACOT12	80667458	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	4.219000	0.58561	2.724000	0.93272	0.561000	0.74099	GAA		0.333	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767	
GPR98	84059	broad.mit.edu	37	5	90459618	90459618	+	Silent	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:90459618T>C	ENST00000405460.2	+	90	18918	c.18822T>C	c.(18820-18822)agT>agC	p.S6274S	GPR98_ENST00000425867.2_Silent_p.S1935S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6274					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S6274S(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAGTGTCAGTGATAATGAAT	0.473																																					p.S6274S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T18822C	5						.						38.0	42.0	41.0					5																	90459618		1902	4130	6032	90495374	SO:0001819	synonymous_variant	84059	exon90			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.18822T>C	5.37:g.90459618T>C			90495374	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1																																																																																				0.473	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
CAST	831	broad.mit.edu	37	5	96090399	96090399	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:96090399delA	ENST00000341926.3	+	20	1577	c.1415delA	c.(1414-1416)gaafs	p.E472fs	CAST_ENST00000508608.1_Frame_Shift_Del_p.E518fs|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000510756.1_Frame_Shift_Del_p.E533fs|CAST_ENST00000509903.1_Frame_Shift_Del_p.E437fs|CAST_ENST00000309190.5_Frame_Shift_Del_p.E450fs|CAST_ENST00000395812.2_Frame_Shift_Del_p.E514fs|CAST_ENST00000511049.1_Frame_Shift_Del_p.E458fs|CAST_ENST00000359176.4_Frame_Shift_Del_p.E536fs|CAST_ENST00000395813.1_Frame_Shift_Del_p.E555fs|CAST_ENST00000338252.3_Frame_Shift_Del_p.E459fs|CAST_ENST00000508830.1_Frame_Shift_Del_p.E555fs|CAST_ENST00000508579.1_Frame_Shift_Del_p.E187fs|CAST_ENST00000325674.7_Frame_Shift_Del_p.E520fs|CAST_ENST00000515663.1_Frame_Shift_Del_p.E195fs|CAST_ENST00000511782.1_Frame_Shift_Del_p.E458fs|CAST_ENST00000504465.1_Frame_Shift_Del_p.E400fs			P20810	ICAL_HUMAN	calpastatin	472					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)	p.E452fs*10(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		AAGCTTGGTGAAAAAGAAGAA	0.328																																					p.E450fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1349delA	5						.						106.0	118.0	114.0					5																	96090399		2203	4300	6503	96116155	SO:0001589	frameshift_variant	831	exon19			AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.1415delA	5.37:g.96090399delA	ENSP00000339914:p.Glu472fs		96116155	NM_173060	B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Frame_Shift_Del	DEL	ENST00000341926.3	37																																																																																					0.328	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062	
GRM6	2916	broad.mit.edu	37	5	178410024	178410024	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr5:178410024C>T	ENST00000517717.1	-	10	2361	c.2323G>A	c.(2323-2325)Gtg>Atg	p.V775M	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.V775M			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	775					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.V775M(2)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GTCTCGGGCACGCCACGGGCC	0.597																																					p.V775M												.	.	2	Substitution - Missense(2)	urinary_tract(1)|large_intestine(1)	c.G2323A	5						.						131.0	107.0	115.0					5																	178410024		2203	4300	6503	178342630	SO:0001583	missense	2916	exon9			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2323G>A	5.37:g.178410024C>T	ENSP00000430767:p.Val775Met		178342630	NM_000843		Missense_Mutation	SNP	ENST00000517717.1	37	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379871	0.61845	.	.	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.89485	-2.52;-2.52	5.18	5.18	0.71444	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.94823	0.8328	M	0.84683	2.71	0.54753	D	0.999987	D;D	0.76494	0.999;0.998	D;D	0.77557	0.99;0.967	D	0.95314	0.8414	9	0.72032	D	0.01	.	16.5534	0.84478	0.0:1.0:0.0:0.0	.	775;69	O15303;Q5HYM4	GRM6_HUMAN;.	M	775	ENSP00000231188:V775M;ENSP00000430767:V775M	ENSP00000231188:V775M	V	-	1	0	GRM6	178342630	1.000000	0.71417	0.767000	0.31495	0.036000	0.12997	7.658000	0.83755	2.591000	0.87537	0.313000	0.20887	GTG		0.597	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2		
PRRC2A	7916	broad.mit.edu	37	6	31602932	31602933	+	Frame_Shift_Ins	INS	-	-	C	rs2857705		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:31602932_31602933insC	ENST00000376033.2	+	22	5418_5419	c.5184_5185insC	c.(5185-5187)cccfs	p.P1729fs	PRRC2A_ENST00000376007.4_Frame_Shift_Ins_p.P1729fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1729	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G1731fs*35(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGCAGCCTCTGCCCCCTGGCCC	0.604																																					p.L1728fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.5184_5185insC	6						.																																			31710912	SO:0001589	frameshift_variant	7916	exon22			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.5189dupC	6.37:g.31602937_31602937dupC	ENSP00000365201:p.Pro1729fs		31710911	NM_004638	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Frame_Shift_Ins	INS	ENST00000376033.2	37	CCDS4708.1																																																																																				0.604	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686	
TFAP2A	7020	broad.mit.edu	37	6	10415202	10415202	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:10415202G>A	ENST00000482890.1	-	2	369	c.17C>T	c.(16-18)aCg>aTg	p.T6M	TFAP2A_ENST00000319516.4_Intron|TFAP2A-AS1_ENST00000443546.1_RNA|TFAP2A-AS1_ENST00000420777.1_RNA|TFAP2A_ENST00000379613.3_Missense_Mutation_p.T8M|TFAP2A_ENST00000379604.2_Missense_Mutation_p.T6M|TFAP2A_ENST00000379608.3_5'Flank			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	6					anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.T6M(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GATATTATCCGTCAATTTCCA	0.577											OREG0017182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T6M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C17T	6						.						153.0	123.0	133.0					6																	10415202		2203	4300	6503	10523188	SO:0001583	missense	7020	exon1			X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.17C>T	6.37:g.10415202G>A	ENSP00000418541:p.Thr6Met	664	10523188	NM_003220	Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	ENST00000482890.1	37	CCDS4510.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504034	0.64410	.	.	ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000482890;ENST00000466073;ENST00000498450	T;T;T;T;D	0.97256	-1.22;-1.22;-1.22;-1.22;-4.31	4.45	4.45	0.53987	.	0.289642	0.37261	N	0.002179	D	0.97105	0.9054	L	0.40543	1.245	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.985;0.993;0.985	D	0.98229	1.0482	10	0.72032	D	0.01	1.7514	17.3242	0.87243	0.0:0.0:1.0:0.0	.	6;8;6	C1K3N0;Q96SH0;P05549	.;.;AP2A_HUMAN	M	8;6;6;6;8	ENSP00000368933:T8M;ENSP00000368924:T6M;ENSP00000418541:T6M;ENSP00000417495:T6M;ENSP00000419961:T8M	ENSP00000368924:T6M	T	-	2	0	TFAP2A	10523188	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.366000	0.79548	2.286000	0.76751	0.449000	0.29647	ACG		0.577	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220	
ASCC3	10973	broad.mit.edu	37	6	100957310	100957310	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:100957310C>A	ENST00000369162.2	-	42	6905	c.6561G>T	c.(6559-6561)caG>caT	p.Q2187H		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	2187					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.Q2187H(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGGTGTTGACCTGTGCAGAAA	0.433																																					p.Q2187H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6561T	6						.						203.0	196.0	198.0					6																	100957310		2203	4300	6503	101064031	SO:0001583	missense	10973	exon42			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.6561G>T	6.37:g.100957310C>A	ENSP00000358159:p.Gln2187His		101064031	NM_006828	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	9.034	0.987968	0.18966	.	.	ENSG00000112249	ENST00000369162	T	0.57107	0.42	5.94	3.14	0.36123	.	0.361409	0.28736	N	0.014317	T	0.29423	0.0733	L	0.52364	1.645	0.80722	D	1	P	0.42123	0.771	B	0.41946	0.371	T	0.08889	-1.0700	10	0.52906	T	0.07	.	6.0313	0.19681	0.0:0.5262:0.2644:0.2095	.	2187	Q8N3C0	HELC1_HUMAN	H	2187	ENSP00000358159:Q2187H	ENSP00000358159:Q2187H	Q	-	3	2	ASCC3	101064031	1.000000	0.71417	0.004000	0.12327	0.001000	0.01503	1.255000	0.32909	0.369000	0.24510	-0.182000	0.12963	CAG		0.433	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	
BEND3	57673	broad.mit.edu	37	6	107390069	107390069	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:107390069G>A	ENST00000369042.1	-	4	2516	c.2326C>T	c.(2326-2328)Cgg>Tgg	p.R776W	BEND3_ENST00000429433.2_Missense_Mutation_p.R776W			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	776	BEN 4. {ECO:0000255|PROSITE- ProRule:PRU00784}.							p.R776W(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGCCGCAGCCGCGTGGGGTCC	0.607																																					p.R776W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2326T	6						.						52.0	51.0	51.0					6																	107390069		2202	4300	6502	107496762	SO:0001583	missense	57673	exon5			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.2326C>T	6.37:g.107390069G>A	ENSP00000358038:p.Arg776Trp		107496762	NM_001080450	A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286557	0.40494	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	T;T	0.45668	0.89;0.89	5.32	3.46	0.39613	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.49012	0.1532	L	0.56769	1.78	0.51767	D	0.999937	D	0.89917	1.0	D	0.91635	0.999	T	0.54964	-0.8214	10	0.87932	D	0	-23.0874	13.2798	0.60208	0.0:0.0:0.4048:0.5952	.	776	Q5T5X7	BEND3_HUMAN	W	776	ENSP00000358038:R776W;ENSP00000411268:R776W	ENSP00000358038:R776W	R	-	1	2	BEND3	107496762	1.000000	0.71417	0.661000	0.29709	0.695000	0.40330	4.856000	0.62932	0.559000	0.29153	0.455000	0.32223	CGG		0.607	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913	
ARMC2	84071	broad.mit.edu	37	6	109220943	109220943	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:109220943C>T	ENST00000392644.4	+	7	963	c.795C>T	c.(793-795)gaC>gaT	p.D265D	ARMC2_ENST00000368972.3_Silent_p.D100D	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	265								p.D258D(2)		endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TAGAAGTAGACGAAGTCTTTT	0.358																																					p.D265D												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C795T	6						.						55.0	58.0	57.0					6																	109220943		2203	4300	6503	109327636	SO:0001819	synonymous_variant	84071	exon7			BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.795C>T	6.37:g.109220943C>T			109327636	NM_032131	A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Silent	SNP	ENST00000392644.4	37	CCDS5069.2																																																																																				0.358	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131	
MICAL1	64780	broad.mit.edu	37	6	109771544	109771544	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:109771544C>T	ENST00000358807.3	-	8	1461	c.1150G>A	c.(1150-1152)Gcc>Acc	p.A384T	MICAL1_ENST00000368952.4_Missense_Mutation_p.A403T|MICAL1_ENST00000483856.1_5'Flank|MICAL1_ENST00000358577.3_Intron	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	384	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.A384T(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AGCAGGCGGGCGCCATGCTTC	0.612																																					p.A384T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1150A	6						.						47.0	53.0	51.0					6																	109771544		2203	4300	6503	109878237	SO:0001583	missense	64780	exon8			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.1150G>A	6.37:g.109771544C>T	ENSP00000351664:p.Ala384Thr		109878237	NM_022765	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	8.962	0.970815	0.18659	.	.	ENSG00000135596	ENST00000358807;ENST00000368952	T;T	0.21734	1.99;1.99	4.5	2.72	0.32119	Calponin homology domain (1);	0.365194	0.29080	N	0.013204	T	0.04363	0.0120	L	0.29908	0.895	0.21841	N	0.999513	B;B	0.12013	0.005;0.005	B;B	0.04013	0.001;0.001	T	0.35101	-0.9802	10	0.38643	T	0.18	.	4.8931	0.13737	0.0:0.6316:0.1754:0.193	.	403;384	B7Z3R5;Q8TDZ2	.;MICA1_HUMAN	T	384;403	ENSP00000351664:A384T;ENSP00000357948:A403T	ENSP00000351664:A384T	A	-	1	0	MICAL1	109878237	0.032000	0.19561	0.672000	0.29872	0.700000	0.40528	0.362000	0.20284	0.643000	0.30638	-0.251000	0.11542	GCC		0.612	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765	
ROS1	6098	broad.mit.edu	37	6	117681532	117681532	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:117681532C>T	ENST00000368508.3	-	22	3616	c.3418G>A	c.(3418-3420)Gct>Act	p.A1140T	ROS1_ENST00000368507.3_Missense_Mutation_p.A1135T|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1140	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A1140T(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACAACGTCAGCATATGGTCCT	0.398			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.A1140T			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3418A	6						.						83.0	78.0	80.0					6																	117681532		2203	4300	6503	117788225	SO:0001583	missense	6098	exon22			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3418G>A	6.37:g.117681532C>T	ENSP00000357494:p.Ala1140Thr		117788225	NM_002944	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800874	0.31869	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.52057	0.68;0.68	5.14	3.96	0.45880	.	0.099941	0.44902	D	0.000408	T	0.10852	0.0265	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05784	-1.0864	10	0.30078	T	0.28	.	11.7263	0.51712	0.8493:0.1507:0.0:0.0	.	1140	P08922	ROS1_HUMAN	T	1140;1135	ENSP00000357494:A1140T;ENSP00000357493:A1135T	ENSP00000357493:A1135T	A	-	1	0	ROS1	117788225	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	4.240000	0.58701	0.896000	0.36366	-0.266000	0.10368	GCT		0.398	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
KIAA1244	57221	broad.mit.edu	37	6	138655984	138655984	+	Missense_Mutation	SNP	C	C	T	rs182084247		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:138655984C>T	ENST00000251691.4	+	33	6167	c.6001C>T	c.(6001-6003)Cgg>Tgg	p.R2001W		NM_020340.4	NP_065073.3			KIAA1244									p.R1930W(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GGATCCCAGCCGGAAGAAGGA	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		14298	0.001		0.0	False		,,,				2504	0.0				p.R2001W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6001T	6						.						38.0	35.0	36.0					6																	138655984		2202	4300	6502	138697677	SO:0001583	missense	57221	exon33			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.6001C>T	6.37:g.138655984C>T	ENSP00000251691:p.Arg2001Trp		138697677	NM_020340		Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.21	2.468891	0.43839	.	.	ENSG00000112379	ENST00000251691	T	0.22743	1.94	5.6	1.09	0.20402	.	0.382816	0.26435	N	0.024382	T	0.14570	0.0352	L	0.29908	0.895	0.35769	D	0.82074	D	0.71674	0.998	P	0.53490	0.727	T	0.04635	-1.0937	10	0.72032	D	0.01	-27.6066	15.5595	0.76229	0.7816:0.2184:0.0:0.0	.	2001	Q5TH69	BIG3_HUMAN	W	2001	ENSP00000251691:R2001W	ENSP00000251691:R2001W	R	+	1	2	KIAA1244	138697677	1.000000	0.71417	0.034000	0.17996	0.891000	0.51852	2.240000	0.43088	0.234000	0.21139	0.543000	0.68304	CGG		0.572	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340	
GPR126	57211	broad.mit.edu	37	6	142703103	142703103	+	Missense_Mutation	SNP	C	C	T	rs184591267		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:142703103C>T	ENST00000230173.6	+	5	1561	c.1085C>T	c.(1084-1086)cCg>cTg	p.P362L	GPR126_ENST00000545477.1_3'UTR|GPR126_ENST00000367608.2_Missense_Mutation_p.P362L|GPR126_ENST00000296932.8_Missense_Mutation_p.P362L|GPR126_ENST00000367609.3_Missense_Mutation_p.P362L	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	362					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P362L(1)|p.P361L(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TACCTGATCCCGCTCCCAGCA	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		17653	0.001		0.0	False		,,,				2504	0.0				p.P362L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1085T	6						.						43.0	44.0	43.0					6																	142703103		1891	4118	6009	142744796	SO:0001583	missense	57211	exon5			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.1085C>T	6.37:g.142703103C>T	ENSP00000230173:p.Pro362Leu		142744796	NM_001032394	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	CCDS47490.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.32	3.360751	0.61403	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.84	4.96	0.65561	.	0.090974	0.48767	D	0.000176	T	0.43211	0.1237	L	0.53249	1.67	0.40964	D	0.984645	P;D;P;P	0.54397	0.939;0.966;0.939;0.898	B;P;B;B	0.46253	0.331;0.509;0.331;0.178	T	0.52298	-0.8594	10	0.87932	D	0	.	14.9195	0.70826	0.1427:0.8573:0.0:0.0	.	362;362;362;362	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	L	362	ENSP00000230173:P362L;ENSP00000356580:P362L;ENSP00000296932:P362L;ENSP00000356581:P362L	ENSP00000230173:P362L	P	+	2	0	GPR126	142744796	0.959000	0.32827	0.838000	0.33150	0.467000	0.32768	2.365000	0.44196	1.447000	0.47661	0.650000	0.86243	CCG		0.448	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2		
PLAGL1	5325	broad.mit.edu	37	6	144262631	144262631	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:144262631G>T	ENST00000360537.2	-	5	3235	c.1322C>A	c.(1321-1323)cCc>cAc	p.P441H	PLAGL1_ENST00000444202.1_Missense_Mutation_p.P441H|PLAGL1_ENST00000416623.1_Missense_Mutation_p.P441H|PLAGL1_ENST00000367572.1_Missense_Mutation_p.P389H|PLAGL1_ENST00000354765.2_Missense_Mutation_p.P441H|PLAGL1_ENST00000437412.1_Missense_Mutation_p.P389H|PLAGL1_ENST00000392307.1_Missense_Mutation_p.P389H|PLAGL1_ENST00000367571.1_Missense_Mutation_p.P441H|PLAGL1_ENST00000392309.1_Missense_Mutation_p.P441H|PLAGL1_ENST00000429150.1_Missense_Mutation_p.P441H			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	441					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P441H(1)		endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		ATGAGGGATGGGGGGCAGGGG	0.532																																					p.P389H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1166A	6						.						25.0	29.0	28.0					6																	144262631		2199	4294	6493	144304324	SO:0001583	missense	5325	exon6			U81992	CCDS5202.1, CCDS5203.1	6q24-q25	2013-01-08			ENSG00000118495	ENSG00000118495		"""Zinc fingers, C2H2-type"""	9046	protein-coding gene	gene with protein product		603044				9722527, 9671765	Standard	NM_006718		Approved	ZAC, LOT1	uc003qkf.3	Q9UM63	OTTHUMG00000015738	ENST00000360537.2:c.1322C>A	6.37:g.144262631G>T	ENSP00000353734:p.Pro441His		144304324	NM_001080955	B2RBA4|B2RCM8|E1P595|E1P597|O76019|Q7Z3V8|Q92981|Q96JR9|Q9UIZ0	Missense_Mutation	SNP	ENST00000360537.2	37	CCDS5202.1	.	.	.	.	.	.	.	.	.	.	G	1.040	-0.678992	0.03378	.	.	ENSG00000118495	ENST00000360537;ENST00000354765;ENST00000444202;ENST00000429150;ENST00000392309;ENST00000416623;ENST00000437412;ENST00000392307;ENST00000451709;ENST00000367572;ENST00000367571	T;T;T;T;T;T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02;3.02;4.04;4.04;4.04;3.02	5.64	3.66	0.41972	.	0.194156	0.35838	N	0.002945	T	0.01387	0.0045	N	0.03608	-0.345	0.28938	N	0.891172	B	0.06786	0.001	B	0.06405	0.002	T	0.45731	-0.9241	10	0.37606	T	0.19	-25.9322	12.8642	0.57930	0.0:0.0:0.6181:0.3819	.	441	Q9UM63	PLAL1_HUMAN	H	441;441;441;441;441;441;389;389;230;389;441	ENSP00000353734:P441H;ENSP00000346810:P441H;ENSP00000400929:P441H;ENSP00000398409:P441H;ENSP00000376125:P441H;ENSP00000400060:P441H;ENSP00000392418:P389H;ENSP00000376124:P389H;ENSP00000356544:P389H;ENSP00000356543:P441H	ENSP00000346810:P441H	P	-	2	0	PLAGL1	144304324	0.914000	0.31030	0.258000	0.24420	0.040000	0.13550	2.669000	0.46825	1.371000	0.46172	-0.181000	0.13052	CCC		0.532	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042541.1		
GRM1	2911	broad.mit.edu	37	6	146673439	146673439	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:146673439A>G	ENST00000282753.1	+	4	1475	c.1240A>G	c.(1240-1242)Atc>Gtc	p.I414V	GRM1_ENST00000355289.4_Missense_Mutation_p.I414V|GRM1_ENST00000361719.2_Missense_Mutation_p.I414V|GRM1_ENST00000492807.2_Missense_Mutation_p.I414V|GRM1_ENST00000392299.2_Missense_Mutation_p.I414V|GRM1_ENST00000507907.1_Missense_Mutation_p.I414V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	414					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.I414V(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGGGTTTGTCATCAATGCCAT	0.488																																					p.I414V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1240G	6						.						149.0	134.0	139.0					6																	146673439		2203	4300	6503	146715132	SO:0001583	missense	2911	exon5			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1240A>G	6.37:g.146673439A>G	ENSP00000282753:p.Ile414Val		146715132	NM_001114329	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.093605	0.36952	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.73	5.73	0.89815	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.82926	0.5143	L	0.41632	1.29	0.80722	D	1	P;D;P	0.65815	0.815;0.995;0.815	P;D;B	0.78314	0.55;0.991;0.421	T	0.80616	-0.1303	10	0.20519	T	0.43	.	16.0225	0.80509	1.0:0.0:0.0:0.0	.	414;414;414	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	V	414	ENSP00000354896:I414V;ENSP00000376119:I414V;ENSP00000424095:I414V;ENSP00000282753:I414V;ENSP00000347437:I414V;ENSP00000425599:I414V	ENSP00000282753:I414V	I	+	1	0	GRM1	146715132	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.576000	0.82467	2.198000	0.70561	0.533000	0.62120	ATC		0.488	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
AKAP12	9590	broad.mit.edu	37	6	151673069	151673069	+	Silent	SNP	C	C	T	rs573717108		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:151673069C>T	ENST00000253332.1	+	3	3732	c.3543C>T	c.(3541-3543)gaC>gaT	p.D1181D	AKAP12_ENST00000354675.6_Silent_p.D1083D|AKAP12_ENST00000402676.2_Silent_p.D1181D|AKAP12_ENST00000359755.5_Silent_p.D1076D			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1181					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.D1181D(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CCGACTTTGACGCACCAGGCA	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19234	0.0		0.0	False		,,,				2504	0.0				p.D1181D	Melanoma(141;1616 1805 10049 24534 51979)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3543T	6						.						110.0	107.0	108.0					6																	151673069		2203	4300	6503	151714762	SO:0001819	synonymous_variant	9590	exon4			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3543C>T	6.37:g.151673069C>T			151714762	NM_005100	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	CCDS5229.1																																																																																				0.552	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1		
ESR1	2099	broad.mit.edu	37	6	152420067	152420067	+	Missense_Mutation	SNP	C	C	T	rs141662120		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:152420067C>T	ENST00000206249.3	+	8	2116	c.1754C>T	c.(1753-1755)aCg>aTg	p.T585M	ESR1_ENST00000406599.1_Missense_Mutation_p.T324M|ESR1_ENST00000456483.2_Missense_Mutation_p.T473M|ESR1_ENST00000338799.5_Missense_Mutation_p.T585M|ESR1_ENST00000427531.2_Intron|ESR1_ENST00000443427.1_Missense_Mutation_p.T585M|ESR1_ENST00000440973.1_Missense_Mutation_p.T585M	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	585	Interaction with AKAP13.|Self-association.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T585M(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	TATTACATCACGGGGGAGGCA	0.572																																					p.T585M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1754T	6						.	C	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	60.0	55.0	57.0		1754,1754,1754,1754	4.7	0.1	6	dbSNP_134	57	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	ESR1	NM_000125.3,NM_001122740.1,NM_001122741.1,NM_001122742.1	81,81,81,81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	585/596,585/596,585/596,585/596	152420067	2,13004	2203	4300	6503	152461760	SO:0001583	missense	2099	exon9			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1754C>T	6.37:g.152420067C>T	ENSP00000206249:p.Thr585Met		152461760	NM_001122740	Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554944	0.27739	0.0	2.33E-4	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000406599;ENST00000347491;ENST00000431590	D;D;D;D;D;T	0.92495	-3.05;-3.05;-2.55;-3.05;-3.05;-0.48	5.56	4.69	0.59074	Estrogen-type nuclear receptor, C-terminal (1);	0.195985	0.37577	N	0.002033	D	0.91660	0.7364	L	0.51422	1.61	0.09310	N	0.999999	D;D;D;D;D;D	0.76494	0.999;0.983;0.993;0.976;0.97;0.976	D;P;P;P;B;P	0.76575	0.988;0.745;0.817;0.756;0.398;0.533	D	0.86438	0.1765	10	0.66056	D	0.02	.	10.8779	0.46921	0.1218:0.4585:0.4197:0.0	.	260;324;512;584;585;585	E7EVR3;Q9H2M1;B4E3R5;A8KAF4;G4XH65;P03372	.;.;.;.;.;ESR1_HUMAN	M	585;585;473;260;585;585;324;172;513	ENSP00000405330:T585M;ENSP00000342630:T585M;ENSP00000415934:T473M;ENSP00000387500:T585M;ENSP00000206249:T585M;ENSP00000384064:T324M	ENSP00000206249:T585M	T	+	2	0	ESR1	152461760	0.000000	0.05858	0.098000	0.21074	0.058000	0.15608	0.319000	0.19522	1.320000	0.45209	0.650000	0.86243	ACG		0.572	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1		
SYNJ2	8871	broad.mit.edu	37	6	158490643	158490643	+	Silent	SNP	G	G	A	rs148150317		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:158490643G>A	ENST00000355585.4	+	14	1953	c.1878G>A	c.(1876-1878)tcG>tcA	p.S626S	SYNJ2_ENST00000367121.3_Silent_p.S626S|SYNJ2_ENST00000367122.2_Silent_p.S626S	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	626					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.S626S(2)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TGTTGACTTCGGCACAGCTGG	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19754	0.0		0.0	False		,,,				2504	0.0				p.S626S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1878A	6						.	G	,	6,4400	11.4+/-27.6	0,6,2197	169.0	148.0	155.0		1167,1878	-1.5	1.0	6	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SYNJ2	NM_001178088.1,NM_003898.3	,	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	,	389/1260,626/1497	158490643	6,13000	2203	4300	6503	158410631	SO:0001819	synonymous_variant	8871	exon14			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1878G>A	6.37:g.158490643G>A			158410631	NM_003898	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	CCDS5254.1																																																																																				0.453	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2		
EZR	7430	broad.mit.edu	37	6	159190904	159190904	+	Missense_Mutation	SNP	C	C	T	rs571220845		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:159190904C>T	ENST00000367075.3	-	11	1331	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	EZR_ENST00000392177.4_Missense_Mutation_p.R356H|EZR_ENST00000337147.7_Missense_Mutation_p.R388H	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	388	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)	p.R388H(1)	EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		AGCCTCTAGGCGCTCGGCCTC	0.612			T	ROS1	NSCLC								C|||	1	0.000199681	0.0	0.0	5008	,	,		17295	0.0		0.0	False		,,,				2504	0.001				p.R388H			Dom	yes		6	6q25.3	7430	ezrin		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1163A	6						.						89.0	91.0	90.0					6																	159190904		2203	4300	6503	159110892	SO:0001583	missense	7430	exon11			AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1163G>A	6.37:g.159190904C>T	ENSP00000356042:p.Arg388His		159110892	NM_001111077	E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	ENST00000367075.3	37	CCDS5258.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828997	0.32329	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	D;D;D	0.83250	-1.7;-1.7;-1.7	5.55	4.68	0.58851	Ezrin/radixin/moesin, C-terminal (1);	0.161613	0.52532	D	0.000074	T	0.76905	0.4053	M	0.75264	2.295	0.54753	D	0.999989	B;B	0.24920	0.114;0.053	B;B	0.27608	0.081;0.051	T	0.76329	-0.2999	10	0.44086	T	0.13	.	16.4292	0.83835	0.0:0.8684:0.1316:0.0	.	356;388	E7EQR4;P15311	.;EZRI_HUMAN	H	388;388;356	ENSP00000338934:R388H;ENSP00000356042:R388H;ENSP00000376016:R356H	ENSP00000338934:R388H	R	-	2	0	EZR	159110892	1.000000	0.71417	0.989000	0.46669	0.037000	0.13140	4.832000	0.62759	1.342000	0.45619	-0.305000	0.09177	CGC		0.612	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379	
MAP3K4	4216	broad.mit.edu	37	6	161519386	161519386	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:161519386G>A	ENST00000392142.4	+	17	3749	c.3601G>A	c.(3601-3603)Gct>Act	p.A1201T	MAP3K4_ENST00000366920.2_Missense_Mutation_p.A1197T|MAP3K4_ENST00000348824.7_Intron|MAP3K4_ENST00000366919.2_Intron	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1201	Poly-Ala.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.A1201T(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		tgctgctgttgctgcCAGTCG	0.607																																					p.A1201T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3601A	6						.						107.0	102.0	104.0					6																	161519386		2203	4300	6503	161439376	SO:0001583	missense	4216	exon17			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3601G>A	6.37:g.161519386G>A	ENSP00000375986:p.Ala1201Thr		161439376	NM_005922	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.984938	0.00443	.	.	ENSG00000085511	ENST00000392142;ENST00000366920	T;T	0.71103	-0.54;-0.52	4.54	0.613	0.17597	.	0.790980	0.11539	N	0.553886	T	0.17023	0.0409	N	0.04508	-0.205	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.37572	-0.9700	10	0.05351	T	0.99	-3.6173	9.1061	0.36698	0.3829:0.0:0.6171:0.0	.	1197;1201	F5H538;Q9Y6R4	.;M3K4_HUMAN	T	1201;1197	ENSP00000375986:A1201T;ENSP00000355887:A1197T	ENSP00000355887:A1197T	A	+	1	0	MAP3K4	161439376	0.004000	0.15560	0.001000	0.08648	0.029000	0.11900	0.540000	0.23191	-0.244000	0.09639	0.650000	0.86243	GCT		0.607	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
MLLT4	4301	broad.mit.edu	37	6	168352153	168352153	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:168352153G>A	ENST00000447894.2	+	29	4098	c.4098G>A	c.(4096-4098)ccG>ccA	p.P1366P	MLLT4_ENST00000392108.3_Silent_p.P1366P|MLLT4_ENST00000351017.4_Silent_p.P1373P|MLLT4_ENST00000400822.3_Silent_p.P1365P|MLLT4_ENST00000366806.2_Silent_p.P1366P|MLLT4_ENST00000344191.4_Silent_p.P1366P|MLLT4_ENST00000392112.1_Silent_p.P1349P			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1366	Pro-rich.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.P1350P(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ACCTGCCTCCGCCACCCCCGC	0.622			T	MLL	AL																																p.P1366P			Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4098A	6						.						54.0	69.0	64.0					6																	168352153		2202	4300	6502	168095002	SO:0001819	synonymous_variant	4301	exon29			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4098G>A	6.37:g.168352153G>A			168095002	NM_001040000	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37																																																																																					0.622	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	
DTNBP1	84062	broad.mit.edu	37	6	15524787	15524789	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	CTC	CTC	CTC	-	CTC	CTC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:15524787_15524789delCTC	ENST00000344537.5	-	9	951_953	c.779_781delGAG	c.(778-783)ggagaa>gaa	p.G260del	DTNBP1_ENST00000355917.3_In_Frame_Del_p.G261del|DTNBP1_ENST00000338950.5_In_Frame_Del_p.G260del|DTNBP1_ENST00000462989.2_In_Frame_Del_p.G104del	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	260	Dysbindin.				actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)		p.G260delG(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GTGTTCTCTTCTCCTCCAGAGTT	0.547									Hermansky-Pudlak syndrome																												p.260_261del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.779_781del	6						.		,	12,4252		6,0,2126					,	5.7	0.1			145	9,8243		4,1,4121	no	coding,coding	DTNBP1	NM_183040.2,NM_032122.4	,	10,1,6247	A1A1,A1R,RR		0.1091,0.2814,0.1678	,	,		21,12495				15632768	SO:0001651	inframe_deletion	84062	exon9	Familial Cancer Database	HPS, HPS1-8	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"""Biogenesis of lysosomal organelles complex-1 subunits"""	17328	protein-coding gene	gene with protein product	"""dysbindin-1"", ""biogenesis of lysosomal organelles complex-1, subunit 8"""	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.779_781delGAG	6.37:g.15524790_15524792delCTC	ENSP00000341680:p.Gly260del		15632766	NM_032122	A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	In_Frame_Del	DEL	ENST00000344537.5	37	CCDS4534.1																																																																																				0.547	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000039933.2	NM_032122	
ATXN1	6310	broad.mit.edu	37	6	16306873	16306874	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	TT	TT	TT	-	TT	TT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:16306873_16306874delTT	ENST00000244769.4	-	9	3070_3071	c.2134_2135delAA	c.(2134-2136)aagfs	p.K712fs	ATXN1_ENST00000436367.1_Frame_Shift_Del_p.K712fs	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	712	Interaction with USP7.|RNA-binding.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.K712fs*28(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCCGTCGGCCTTTGAGTGCTTC	0.584																																					p.712_712del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2134_2135del	6						.																																			16414853	SO:0001589	frameshift_variant	6310	exon9			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.2134_2135delAA	6.37:g.16306873_16306874delTT	ENSP00000244769:p.Lys712fs		16414852	NM_000332	Q17S02|Q9UJG2|Q9Y4J1	Frame_Shift_Del	DEL	ENST00000244769.4	37	CCDS34342.1																																																																																				0.584	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332	
SLC17A3	10786	broad.mit.edu	37	6	25862634	25862634	+	Missense_Mutation	SNP	C	C	T	rs142438811	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:25862634C>T	ENST00000360657.3	-	3	415	c.130G>A	c.(130-132)Gtc>Atc	p.V44I	SLC17A3_ENST00000361703.6_Missense_Mutation_p.V44I|SLC17A3_ENST00000397060.4_Missense_Mutation_p.V44I			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	44					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)	p.V44I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						AAATGTAAGACGAGGGCTATT	0.378																																					p.V44I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G130A	6						.	C	ILE/VAL,ILE/VAL	5,4401	9.9+/-24.2	0,5,2198	193.0	162.0	172.0		130,130	-6.5	0.0	6	dbSNP_134	172	0,8600		0,0,4300	yes	missense,missense	SLC17A3	NM_001098486.1,NM_006632.3	29,29	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign,benign	44/499,44/421	25862634	5,13001	2203	4300	6503	25970613	SO:0001583	missense	10786	exon3			U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.130G>A	6.37:g.25862634C>T	ENSP00000353873:p.Val44Ile		25970613	NM_001098486	B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	C	0.418	-0.909756	0.02434	0.001135	0.0	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.59772	0.33;0.24;0.24	3.63	-6.54	0.01860	.	1.775960	0.03381	N	0.200344	T	0.09949	0.0244	N	0.02129	-0.67	0.09310	N	1	B;B;B;B	0.11235	0.0;0.004;0.001;0.0	B;B;B;B	0.11329	0.0;0.006;0.006;0.0	T	0.17258	-1.0375	10	0.49607	T	0.09	.	5.6586	0.17656	0.0:0.3959:0.3024:0.3018	.	44;25;44;44	B7Z531;B7Z3L7;B7Z511;O00476	.;.;.;NPT4_HUMAN	I	44	ENSP00000380250:V44I;ENSP00000353873:V44I;ENSP00000355307:V44I	ENSP00000353873:V44I	V	-	1	0	SLC17A3	25970613	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.181000	0.01257	-1.215000	0.02610	-0.440000	0.05779	GTC		0.378	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2		
ZBED9	114821	broad.mit.edu	37	6	28543602	28543602	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:28543602delC	ENST00000452236.2	-	3	1497	c.880delG	c.(880-882)gaafs	p.E294fs	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.E294fs*49(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTATCTGTTTCCCCATTTACA	0.408																																					p.E294fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.880delG	6						.						246.0	222.0	230.0					6																	28543602		2203	4300	6503	28651581	SO:0001589	frameshift_variant	114821	exon3																														ENST00000452236.2:c.880delG	6.37:g.28543602delC	ENSP00000395259:p.Glu294fs		28651581	NM_052923		Frame_Shift_Del	DEL	ENST00000452236.2	37	CCDS34355.1																																																																																				0.408	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3		
FKBPL	63943	broad.mit.edu	37	6	32096845	32096845	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:32096845C>T	ENST00000375156.3	-	2	983	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000375203.3_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	238					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R238Q(1)									CAGGAGCAGCCGAAGAGCCCG	0.587																																					p.R238Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G713A	6						.						56.0	60.0	59.0					6																	32096845		2203	4300	6503	32204823	SO:0001583	missense	63943	exon2			AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.713G>A	6.37:g.32096845C>T	ENSP00000364298:p.Arg238Gln		32204823	NM_022110	A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	ENST00000375156.3	37	CCDS4738.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772221	0.69992	.	.	ENSG00000204315	ENST00000375156	T	0.58358	0.34	5.24	4.38	0.52667	Tetratricopeptide-like helical (1);	0.188102	0.35436	N	0.003204	T	0.40119	0.1104	N	0.13299	0.325	0.32694	N	0.513727	D	0.89917	1.0	D	0.75484	0.986	T	0.45160	-0.9280	10	0.36615	T	0.2	-15.7451	11.6665	0.51376	0.0:0.9149:0.0:0.0851	.	238	Q9UIM3	FKBPL_HUMAN	Q	238	ENSP00000364298:R238Q	ENSP00000364298:R238Q	R	-	2	0	FKBPL	32204823	0.344000	0.24827	1.000000	0.80357	0.908000	0.53690	2.467000	0.45093	1.446000	0.47643	-0.258000	0.10820	CGG		0.587	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2		
PNPLA1	285848	broad.mit.edu	37	6	36274105	36274105	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:36274105C>A	ENST00000394571.2	+	7	1421	c.1421C>A	c.(1420-1422)gCc>gAc	p.A474D	PNPLA1_ENST00000388715.3_Missense_Mutation_p.A379D|PNPLA1_ENST00000312917.5_Missense_Mutation_p.A388D	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	474					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)	p.A379D(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CCAAAAAGCGCCGTGCCTCTG	0.468																																					p.A474D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1421A	6						.						164.0	155.0	158.0					6																	36274105		2203	4300	6503	36382083	SO:0001583	missense	285848	exon7				CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.1421C>A	6.37:g.36274105C>A	ENSP00000378072:p.Ala474Asp		36382083	NM_001145717	A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090912	0.36855	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.34667	1.58;1.58;1.35;1.36	4.43	4.43	0.53597	.	2.903160	0.01700	N	0.027129	T	0.14442	0.0349	N	0.14661	0.345	0.09310	N	1	B;B	0.26400	0.148;0.144	B;B	0.29942	0.051;0.109	T	0.22695	-1.0209	10	0.49607	T	0.09	1.1043	12.4275	0.55556	0.0:1.0:0.0:0.0	.	474;388	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	D	379;388;475;474	ENSP00000373367:A379D;ENSP00000321116:A388D;ENSP00000391868:A475D;ENSP00000378072:A474D	ENSP00000321116:A388D	A	+	2	0	PNPLA1	36382083	0.001000	0.12720	0.003000	0.11579	0.004000	0.04260	1.152000	0.31663	2.300000	0.77407	0.561000	0.74099	GCC		0.468	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676	
GLTSCR1L	23506	broad.mit.edu	37	6	42824931	42824931	+	Silent	SNP	C	C	T	rs544052252	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:42824931C>T	ENST00000314073.5	+	10	2387	c.2211C>T	c.(2209-2211)caC>caT	p.H737H	GLTSCR1L_ENST00000394168.1_Silent_p.H737H			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	737								p.H737H(1)									TCTCCTACCACGTGTGCCAGG	0.537													C|||	2	0.000399361	0.0	0.0	5008	,	,		16682	0.0		0.0	False		,,,				2504	0.002				p.H737H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2211T	6						.						168.0	144.0	152.0					6																	42824931		2203	4300	6503	42932909	SO:0001819	synonymous_variant	23506	exon9			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2211C>T	6.37:g.42824931C>T			42932909	NM_015349	A1L3W2|Q5TFZ3|Q92514	Silent	SNP	ENST00000314073.5	37	CCDS34451.1																																																																																				0.537	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349	
CUL9	23113	broad.mit.edu	37	6	43193501	43193501	+	IGR	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:43193501C>T	ENST00000252050.4	+	0	7780				DNPH1_ENST00000393987.2_3'UTR|RP3-330M21.5_ENST00000500590.1_RNA|DNPH1_ENST00000230431.6_Silent_p.Q165Q	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9						microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.Q165Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGGCAGCCACCTGCCCTGGAG	0.547																																					p.Q165Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G495A	6						.						91.0	79.0	83.0					6																	43193501		2203	4300	6503	43301479	SO:0001628	intergenic_variant	10591	exon4			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723		6.37:g.43193501C>T			43301479	NM_006443	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	CCDS4890.1																																																																																				0.547	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	
SLC22A7	10864	broad.mit.edu	37	6	43267761	43267761	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:43267761C>T	ENST00000372585.5	+	5	879	c.784C>T	c.(784-786)Cta>Tta	p.L262L	SLC22A7_ENST00000372574.3_Silent_p.L260L|SLC22A7_ENST00000372589.3_Silent_p.L260L|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	262					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.L262L(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	ATGGCTTCTGCTAGCTGTCAC	0.607																																					p.L260L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C778T	6						.						198.0	150.0	166.0					6																	43267761		2203	4300	6503	43375739	SO:0001819	synonymous_variant	10864	exon4			AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.784C>T	6.37:g.43267761C>T			43375739	NM_006672	B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Silent	SNP	ENST00000372585.5	37	CCDS4893.2																																																																																				0.607	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1		
SLC22A7	10864	broad.mit.edu	37	6	43268949	43268949	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:43268949G>A	ENST00000372585.5	+	6	999	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	SLC22A7_ENST00000372574.3_Missense_Mutation_p.A300T|SLC22A7_ENST00000372589.3_Missense_Mutation_p.A300T|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	302					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.A302T(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GCTCCACTGTGCCAGGCTCAA	0.582																																					p.A300T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G898A	6						.						175.0	157.0	163.0					6																	43268949		2203	4300	6503	43376927	SO:0001583	missense	10864	exon5			AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.904G>A	6.37:g.43268949G>A	ENSP00000361666:p.Ala302Thr		43376927	NM_006672	B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592338	0.86953	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574	T;T;T	0.59364	0.27;0.27;0.27	4.95	4.07	0.47477	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.056821	0.64402	D	0.000001	T	0.78220	0.4249	H	0.97465	4.01	0.80722	D	1	P;P;D	0.54772	0.912;0.892;0.968	D;P;D	0.64776	0.929;0.883;0.927	D	0.84915	0.0850	10	0.87932	D	0	.	11.9882	0.53159	0.0:0.0:0.8262:0.1738	.	302;300;300	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	T	300;302;300	ENSP00000361670:A300T;ENSP00000361666:A302T;ENSP00000361655:A300T	ENSP00000361655:A300T	A	+	1	0	SLC22A7	43376927	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	6.574000	0.74014	1.074000	0.40909	0.456000	0.33151	GCC		0.582	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1		
SLC22A7	10864	broad.mit.edu	37	6	43269358	43269358	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:43269358G>A	ENST00000372585.5	+	7	1084	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	SLC22A7_ENST00000372574.3_Missense_Mutation_p.R328Q|SLC22A7_ENST00000372589.3_Missense_Mutation_p.R328Q|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	330					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.R330Q(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CGGGTGGTCCGAAGACCTTCA	0.582																																					p.R328Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G983A	6						.						85.0	65.0	71.0					6																	43269358		2203	4300	6503	43377336	SO:0001583	missense	10864	exon6			AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.989G>A	6.37:g.43269358G>A	ENSP00000361666:p.Arg330Gln		43377336	NM_006672	B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911679	0.33721	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.56	-4.9	0.03094	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.570763	0.13339	N	0.395328	T	0.12092	0.0294	N	0.11698	0.16	0.09310	N	1	B;B;B	0.19200	0.034;0.027;0.027	B;B;B	0.18871	0.023;0.013;0.022	T	0.39603	-0.9606	10	0.07813	T	0.8	.	13.6234	0.62150	0.6991:0.0:0.3009:0.0	.	330;328;328	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	Q	328;330;328;23	ENSP00000361670:R328Q;ENSP00000361666:R330Q;ENSP00000361655:R328Q;ENSP00000393836:R23Q	ENSP00000361655:R328Q	R	+	2	0	SLC22A7	43377336	0.000000	0.05858	0.000000	0.03702	0.235000	0.25334	-1.752000	0.01819	-1.268000	0.02439	-0.379000	0.06801	CGA		0.582	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1		
DLK2	65989	broad.mit.edu	37	6	43418566	43418566	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:43418566C>T	ENST00000357338.3	-	6	1563	c.863G>A	c.(862-864)cGg>cAg	p.R288Q	DLK2_ENST00000414245.1_Missense_Mutation_p.R282Q|DLK2_ENST00000372488.3_Missense_Mutation_p.R288Q|DLK2_ENST00000372485.1_Missense_Mutation_p.R282Q	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	288					negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R288Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CACTGAGATCCGCAGCAGACC	0.667																																					p.R288Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G863A	6						.						61.0	67.0	65.0					6																	43418566		2203	4300	6503	43526544	SO:0001583	missense	65989	exon6			AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"""EGF-like-domain, multiple 9"""	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.863G>A	6.37:g.43418566C>T	ENSP00000349893:p.Arg288Gln		43526544	NM_023932	B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	CCDS4897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.990304|3.990304	0.74589|0.74589	.|.	.|.	ENSG00000171462|ENSG00000171462	ENST00000430324|ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245	.|D;D;D;D	.|0.89343	.|-2.5;-2.5;-2.5;-2.5	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|0.208574	.|0.39615	.|N	.|0.001308	T|T	0.71151|0.71151	0.3306|0.3306	N|N	0.24115|0.24115	0.695|0.695	0.27596|0.27596	N|N	0.94914|0.94914	.|D	.|0.53619	.|0.961	.|B	.|0.40285	.|0.325	T|T	0.68985|0.68985	-0.5265|-0.5265	5|10	.|0.41790	.|T	.|0.15	.|.	11.2586|11.2586	0.49069|0.49069	0.0:0.9061:0.0:0.0939|0.0:0.9061:0.0:0.0939	.|.	.|288	.|Q6UY11	.|DLK2_HUMAN	R|Q	194|282;288;288;282	.|ENSP00000361563:R282Q;ENSP00000361566:R288Q;ENSP00000349893:R288Q;ENSP00000398906:R282Q	.|ENSP00000349893:R288Q	G|R	-|-	1|2	0|0	DLK2|DLK2	43526544|43526544	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	2.401000|2.401000	0.44513|0.44513	2.454000|2.454000	0.82982|0.82982	0.462000|0.462000	0.41574|0.41574	GGA|CGG		0.667	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932	
TCTE1	202500	broad.mit.edu	37	6	44250139	44250139	+	Missense_Mutation	SNP	C	C	T	rs551285031	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:44250139C>T	ENST00000371505.4	-	4	1126	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	TCTE1_ENST00000371504.1_Intron|TCTE1_ENST00000371503.3_Intron|TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	335								p.R335H(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACACGCAGGCGGCTGTGGCT	0.607													C|||	2	0.000399361	0.0	0.0	5008	,	,		22542	0.0		0.0	False		,,,				2504	0.002				p.R335H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1004A	6						.						138.0	119.0	126.0					6																	44250139		2203	4300	6503	44358117	SO:0001583	missense	202500	exon4			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.1004G>A	6.37:g.44250139C>T	ENSP00000360560:p.Arg335His		44358117	NM_182539	B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.206424	0.39003	.	.	ENSG00000146221	ENST00000371505	T	0.53423	0.62	5.37	2.59	0.31030	.	0.374307	0.30374	N	0.009779	T	0.10852	0.0265	N	0.08118	0	0.58432	D	0.999999	B	0.20671	0.047	B	0.20384	0.029	T	0.05257	-1.0896	10	0.36615	T	0.2	-34.9042	6.6212	0.22804	0.0:0.5564:0.128:0.3156	.	335	Q5JU00	TCTE1_HUMAN	H	335	ENSP00000360560:R335H	ENSP00000360560:R335H	R	-	2	0	TCTE1	44358117	0.023000	0.18921	1.000000	0.80357	0.980000	0.70556	0.042000	0.13949	0.773000	0.33404	0.455000	0.32223	CGC		0.607	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539	
TCTE1	202500	broad.mit.edu	37	6	44253791	44253791	+	Silent	SNP	G	G	A	rs541645736		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:44253791G>A	ENST00000371505.4	-	3	878	c.756C>T	c.(754-756)tgC>tgT	p.C252C	TCTE1_ENST00000371504.1_Silent_p.C99C|TCTE1_ENST00000371503.3_Silent_p.C99C|TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	252								p.C252C(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AATTCATGCCGCAGTCCTTGA	0.577																																					p.C252C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C756T	6						.						133.0	119.0	124.0					6																	44253791		2203	4300	6503	44361769	SO:0001819	synonymous_variant	202500	exon3			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.756C>T	6.37:g.44253791G>A			44361769	NM_182539	B4DX59|Q8IYS6	Silent	SNP	ENST00000371505.4	37	CCDS4910.1																																																																																				0.577	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539	
PKHD1	5314	broad.mit.edu	37	6	51947261	51947261	+	Silent	SNP	G	G	T	rs372103359		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:51947261G>T	ENST00000371117.3	-	4	485	c.210C>A	c.(208-210)ccC>ccA	p.P70P	PKHD1_ENST00000340994.4_Silent_p.P70P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	70	IPT/TIG 1; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.P70P(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCCGCAGTGCGGGCACCACCA	0.502																																					p.P70P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C210A	6						.						160.0	165.0	163.0					6																	51947261		2203	4300	6503	52055220	SO:0001819	synonymous_variant	5314	exon4			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.210C>A	6.37:g.51947261G>T			52055220	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																				0.502	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
ICK	22858	broad.mit.edu	37	6	52876886	52876886	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:52876886C>T	ENST00000350082.5	-	10	1638	c.1292G>A	c.(1291-1293)aGc>aAc	p.S431N	ICK_ENST00000356971.3_Missense_Mutation_p.S431N	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	431					intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S431N(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					GTCAATCCTGCTGAGGGATGG	0.443																																					p.S431N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1292A	6						.						141.0	123.0	129.0					6																	52876886		2203	4300	6503	52984845	SO:0001583	missense	22858	exon11			AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.1292G>A	6.37:g.52876886C>T	ENSP00000263043:p.Ser431Asn		52984845	NM_016513	A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Missense_Mutation	SNP	ENST00000350082.5	37	CCDS4949.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.859464	0.51376	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.73789	-0.78;-0.78	5.66	2.85	0.33270	.	0.300381	0.37304	N	0.002147	T	0.49898	0.1584	L	0.39245	1.2	0.23249	N	0.99805	B	0.29716	0.255	B	0.34452	0.183	T	0.46119	-0.9214	10	0.51188	T	0.08	-6.2034	11.7567	0.51880	0.0648:0.3572:0.578:0.0	.	431	Q9UPZ9	ICK_HUMAN	N	431	ENSP00000263043:S431N;ENSP00000349458:S431N	ENSP00000263043:S431N	S	-	2	0	ICK	52984845	0.997000	0.39634	0.998000	0.56505	0.972000	0.66771	0.827000	0.27421	0.301000	0.22738	-0.311000	0.09066	AGC		0.443	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513	
FBXO9	26268	broad.mit.edu	37	6	52957244	52957244	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:52957244G>A	ENST00000244426.6	+	7	873	c.701G>A	c.(700-702)cGt>cAt	p.R234H	RN7SL244P_ENST00000493405.2_RNA|FBXO9_ENST00000370939.3_Missense_Mutation_p.R190H|FBXO9_ENST00000323557.7_Missense_Mutation_p.R224H	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	234	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.R234H(1)		kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					GAAATATGGCGTCTGGCCTGC	0.398																																					p.R234H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G701A	6						.						135.0	125.0	128.0					6																	52957244		1854	4091	5945	53065203	SO:0001583	missense	26268	exon7			AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"""F-boxes /  ""other"""""	13588	protein-coding gene	gene with protein product		609091	"""F-box only protein 9"""			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.701G>A	6.37:g.52957244G>A	ENSP00000244426:p.Arg234His		53065203	NM_012347	A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Missense_Mutation	SNP	ENST00000244426.6	37	CCDS55023.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265458	0.40095	.	.	ENSG00000112146	ENST00000370939;ENST00000323557;ENST00000244426	T;T;T	0.49432	0.78;0.78;0.78	5.41	5.41	0.78517	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.144833	0.64402	D	0.000005	T	0.29190	0.0726	L	0.49455	1.56	0.58432	D	0.99999	B;B;B	0.31893	0.077;0.231;0.345	B;B;B	0.29524	0.024;0.103;0.099	T	0.16988	-1.0384	10	0.48119	T	0.1	-21.8825	13.3141	0.60397	0.0824:0.0:0.9176:0.0	.	224;341;234	Q9UK97-2;Q59EH8;Q9UK97	.;.;FBX9_HUMAN	H	190;224;234	ENSP00000359977:R190H;ENSP00000326968:R224H;ENSP00000244426:R234H	ENSP00000244426:R234H	R	+	2	0	FBXO9	53065203	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.998000	0.57024	2.701000	0.92244	0.563000	0.77884	CGT		0.398	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040950.3		
ELOVL5	60481	broad.mit.edu	37	6	53141002	53141002	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:53141002C>T	ENST00000542638.1	-	4	746	c.299G>A	c.(298-300)cGc>cAc	p.R100H	ELOVL5_ENST00000486973.1_5'UTR|ELOVL5_ENST00000304434.6_Missense_Mutation_p.R100H|ELOVL5_ENST00000541407.1_Missense_Mutation_p.R127H|MIR5685_ENST00000579080.1_RNA|ELOVL5_ENST00000370918.4_Missense_Mutation_p.R90H			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	100					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)	p.R100H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TCCTGCGGTGCGTGTGCCCTG	0.348																																					p.R100H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G299A	6						.						98.0	87.0	90.0					6																	53141002		2203	4300	6503	53248961	SO:0001583	missense	60481	exon4			AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.299G>A	6.37:g.53141002C>T	ENSP00000440728:p.Arg100His		53248961	NM_021814	B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Missense_Mutation	SNP	ENST00000542638.1	37	CCDS4951.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.275513	0.23307	.	.	ENSG00000012660	ENST00000370918;ENST00000304434;ENST00000542638;ENST00000541407	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	6.03	3.29	0.37713	.	0.137873	0.64402	D	0.000003	T	0.02047	0.0064	N	0.00765	-1.205	0.42886	D	0.994184	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.23583	-1.0184	10	0.37606	T	0.19	-10.4007	6.2629	0.20910	0.0:0.6093:0.0:0.3907	.	127;100;100	F6SH78;B3KWH9;Q9NYP7	.;.;ELOV5_HUMAN	H	90;100;100;127	ENSP00000359956:R90H;ENSP00000306640:R100H;ENSP00000440728:R100H;ENSP00000438095:R127H	ENSP00000306640:R100H	R	-	2	0	ELOVL5	53248961	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	1.688000	0.37690	1.557000	0.49525	-0.140000	0.14226	CGC		0.348	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1	NM_021814	
TINAG	27283	broad.mit.edu	37	6	54254646	54254646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:54254646C>T	ENST00000259782.4	+	11	1450	c.1354C>T	c.(1354-1356)Cga>Tga	p.R452*		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	452					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R452*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CAGGATTCTTCGAGGAGTAAA	0.393																																					p.R452X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1354T	6						.						135.0	133.0	133.0					6																	54254646		2203	4300	6503	54362605	SO:0001587	stop_gained	27283	exon11			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1354C>T	6.37:g.54254646C>T	ENSP00000259782:p.Arg452*		54362605	NM_014464	Q5T467|Q9UJW1|Q9ULZ4	Nonsense_Mutation	SNP	ENST00000259782.4	37	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	C	40	8.021243	0.98613	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	.	.	.	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7362	0.77846	0.0:1.0:0.0:0.0	.	.	.	.	X	311;452;131	.	ENSP00000259782:R452X	R	+	1	2	TINAG	54362605	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.222000	0.58580	2.791000	0.96007	0.591000	0.81541	CGA		0.393	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464	
DST	667	broad.mit.edu	37	6	56484816	56484816	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:56484816G>A	ENST00000370765.6	-	23	4123	c.4016C>T	c.(4015-4017)cCg>cTg	p.P1339L	DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.P1339L(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGTGTGATCGGACACACTGG	0.403																																					p.P1339L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4016T	6						.						154.0	141.0	145.0					6																	56484816		2203	4300	6503	56592775	SO:0001583	missense	667	exon23			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.4016C>T	6.37:g.56484816G>A	ENSP00000359801:p.Pro1339Leu		56592775	NM_001723	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	G	8.262	0.811367	0.16537	.	.	ENSG00000151914	ENST00000370765	T	0.20881	2.04	4.46	0.581	0.17407	.	.	.	.	.	T	0.03827	0.0108	.	.	.	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.43310	-0.9399	7	0.23891	T	0.37	.	6.6777	0.23103	0.2226:0.1275:0.6499:0.0	.	1339	Q03001-3	.	L	1339	ENSP00000359801:P1339L	ENSP00000359801:P1339L	P	-	2	0	DST	56592775	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.351000	0.20096	0.163000	0.19507	-0.266000	0.10368	CCG		0.403	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723	
PHF3	23469	broad.mit.edu	37	6	64394047	64394047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:64394047C>T	ENST00000262043.3	+	4	764	c.424C>T	c.(424-426)Cga>Tga	p.R142*	PHF3_ENST00000509330.1_Nonsense_Mutation_p.R142*|PHF3_ENST00000393387.1_Nonsense_Mutation_p.R142*			Q92576	PHF3_HUMAN	PHD finger protein 3	142					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R142*(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGAAGTTTGCGACAGAGCAC	0.343																																					p.R142X	GBM(135;136 1820 29512 34071 46235)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C424T	6						.						99.0	109.0	105.0					6																	64394047		2203	4299	6502	64452006	SO:0001587	stop_gained	23469	exon3			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.424C>T	6.37:g.64394047C>T	ENSP00000262043:p.Arg142*		64452006	NM_015153	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Nonsense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938912	0.73557	.	.	ENSG00000118482	ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	.	.	.	5.92	5.92	0.95590	.	0.000000	0.32416	N	0.006126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5548	15.0797	0.72106	0.1417:0.8582:0.0:0.0	.	.	.	.	X	54;142;95;142;142;72	.	ENSP00000262043:R142X	R	+	1	2	PHF3	64452006	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.884000	0.56175	2.801000	0.96364	0.650000	0.86243	CGA		0.343	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		
BAI3	577	broad.mit.edu	37	6	69666661	69666661	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:69666661G>A	ENST00000370598.1	+	8	2306	c.1485G>A	c.(1483-1485)acG>acA	p.T495T		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	495	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T495T(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTGAAGGAACGGGCGAAGAAG	0.463																																					p.T495T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1485A	6						.						148.0	144.0	145.0					6																	69666661		2203	4300	6503	69723382	SO:0001819	synonymous_variant	577	exon8			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1485G>A	6.37:g.69666661G>A			69723382	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	CCDS4968.1																																																																																				0.463	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
RIMS1	22999	broad.mit.edu	37	6	72596775	72596775	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:72596775delC	ENST00000521978.1	+	1	49	c.49delC	c.(49-51)cccfs	p.P18fs	RIMS1_ENST00000491071.2_Frame_Shift_Del_p.P18fs|RIMS1_ENST00000520567.1_Frame_Shift_Del_p.P18fs|RIMS1_ENST00000264839.7_Frame_Shift_Del_p.P18fs|RIMS1_ENST00000348717.5_Frame_Shift_Del_p.P18fs|RIMS1_ENST00000518273.1_Frame_Shift_Del_p.P18fs|RIMS1_ENST00000517960.1_Frame_Shift_Del_p.P18fs|RIMS1_ENST00000522291.1_Frame_Shift_Del_p.P18fs	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	18					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.M19fs*7(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CACGGTGCCTCCCCCCATGCA	0.637																																					p.P17fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.49delC	6						.						28.0	34.0	32.0					6																	72596775		2033	4171	6204	72653496	SO:0001589	frameshift_variant	22999	exon1			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.49delC	6.37:g.72596775delC	ENSP00000428417:p.Pro18fs		72653496	NM_014989	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Frame_Shift_Del	DEL	ENST00000521978.1	37	CCDS47449.1																																																																																				0.637	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
RIMS1	22999	broad.mit.edu	37	6	72806727	72806727	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:72806727C>T	ENST00000521978.1	+	3	321	c.321C>T	c.(319-321)ggC>ggT	p.G107G	RIMS1_ENST00000491071.2_Silent_p.G107G|RIMS1_ENST00000520567.1_Silent_p.G107G|RIMS1_ENST00000264839.7_Silent_p.G107G|RIMS1_ENST00000348717.5_Silent_p.G107G|RIMS1_ENST00000518273.1_Silent_p.G107G|RIMS1_ENST00000517960.1_Silent_p.G107G|RIMS1_ENST00000522291.1_Silent_p.G107G	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	107	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.G107G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTTACCAGGGCGAGCACAAAG	0.458																																					p.G107G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C321T	6						.						86.0	83.0	84.0					6																	72806727		1973	4169	6142	72863448	SO:0001819	synonymous_variant	22999	exon3			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.321C>T	6.37:g.72806727C>T			72863448	NM_014989	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	CCDS47449.1																																																																																				0.458	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
DDX43	55510	broad.mit.edu	37	6	74104868	74104868	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:74104868C>T	ENST00000370336.4	+	1	398	c.240C>T	c.(238-240)ggC>ggT	p.G80G	DDX43_ENST00000539829.1_Silent_p.G80G|OOEP_ENST00000370363.1_5'Flank|snoU13_ENST00000459178.1_RNA	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	80	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.G80G(2)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						ACTTTGTTGGCGCGGTAATCG	0.647											OREG0003900	type=REGULATORY REGION|Gene=BC024931|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.G80G												.	.	2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	c.C240T	6						.						45.0	35.0	38.0					6																	74104868		2203	4299	6502	74161589	SO:0001819	synonymous_variant	55510	exon1				CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.240C>T	6.37:g.74104868C>T		1150	74161589	NM_018665	B4E0C8|Q6NXR1	Silent	SNP	ENST00000370336.4	37	CCDS4977.1																																																																																				0.647	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665	
IMPG1	3617	broad.mit.edu	37	6	76751630	76751630	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:76751630T>C	ENST00000369950.3	-	2	470	c.281A>G	c.(280-282)cAa>cGa	p.Q94R	IMPG1_ENST00000369963.3_Intron	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.Q94R(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ATAATAAGCTTGAAGACTGTC	0.403																																					p.Q94R	Pancreas(37;839 1141 2599 26037)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A281G	6						.						79.0	78.0	78.0					6																	76751630		2203	4300	6503	76808350	SO:0001583	missense	3617	exon2			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.281A>G	6.37:g.76751630T>C	ENSP00000358966:p.Gln94Arg		76808350	NM_001563		Missense_Mutation	SNP	ENST00000369950.3	37	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	T	9.414	1.081305	0.20309	.	.	ENSG00000112706	ENST00000369950	T	0.74842	-0.88	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000011	T	0.57607	0.2065	M	0.63428	1.95	0.80722	D	1	P	0.37824	0.609	B	0.33690	0.168	T	0.62732	-0.6792	9	.	.	.	.	11.6865	0.51490	0.132:0.0:0.0:0.868	.	94	Q17R60	IMPG1_HUMAN	R	94	ENSP00000358966:Q94R	.	Q	-	2	0	IMPG1	76808350	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.164000	0.42387	2.326000	0.78906	0.533000	0.62120	CAA		0.403	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563	
IBTK	25998	broad.mit.edu	37	6	82941534	82941534	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:82941534G>A	ENST00000306270.7	-	4	993	c.444C>T	c.(442-444)ggC>ggT	p.G148G	IBTK_ENST00000510291.1_Silent_p.G148G|IBTK_ENST00000503631.1_Silent_p.G148G	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	148					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.G148G(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TTGTATTATCGCCCCAAGTAT	0.313																																					p.G148G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C444T	6						.						90.0	86.0	87.0					6																	82941534		2203	4300	6503	82998253	SO:0001819	synonymous_variant	25998	exon4			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.444C>T	6.37:g.82941534G>A			82998253	NM_015525	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Silent	SNP	ENST00000306270.7	37	CCDS34490.1																																																																																				0.313	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525	
DOPEY1	23033	broad.mit.edu	37	6	83842028	83842028	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:83842028A>G	ENST00000349129.2	+	18	3010	c.2750A>G	c.(2749-2751)cAg>cGg	p.Q917R	DOPEY1_ENST00000237163.5_Missense_Mutation_p.Q898R|DOPEY1_ENST00000369739.3_Missense_Mutation_p.Q908R	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	917					protein transport (GO:0015031)			p.Q917R(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ATAAGTCAGCAGTTAACCCAT	0.408																																					p.Q917R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2750G	6						.						108.0	110.0	109.0					6																	83842028		2203	4300	6503	83898747	SO:0001583	missense	23033	exon18			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.2750A>G	6.37:g.83842028A>G	ENSP00000195654:p.Gln917Arg		83898747	NM_015018	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535562	0.85812	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.23552	1.9;1.9	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.35998	0.0951	L	0.57536	1.79	0.80722	D	1	D;D;D	0.61697	0.982;0.99;0.99	D;D;D	0.69824	0.962;0.966;0.966	T	0.04281	-1.0963	10	0.29301	T	0.29	.	16.1637	0.81739	1.0:0.0:0.0:0.0	.	808;908;917	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	R	917;898;898	ENSP00000195654:Q917R;ENSP00000237163:Q898R	ENSP00000237163:Q898R	Q	+	2	0	DOPEY1	83898747	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.962000	0.93254	2.216000	0.71823	0.533000	0.62120	CAG		0.408	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018	
DOPEY1	23033	broad.mit.edu	37	6	83847871	83847871	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:83847871C>T	ENST00000349129.2	+	21	4370	c.4110C>T	c.(4108-4110)ctC>ctT	p.L1370L	DOPEY1_ENST00000237163.5_Silent_p.L1351L|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Silent_p.L1361L	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1370					protein transport (GO:0015031)			p.L1370L(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AACATGTGCTCCTGTATCTCC	0.408																																					p.L1370L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4110T	6						.						126.0	131.0	129.0					6																	83847871		2203	4300	6503	83904590	SO:0001819	synonymous_variant	23033	exon21			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.4110C>T	6.37:g.83847871C>T			83904590	NM_015018	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Silent	SNP	ENST00000349129.2	37	CCDS4996.1																																																																																				0.408	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018	
ZNF292	23036	broad.mit.edu	37	6	87966380	87966380	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:87966380C>T	ENST00000369577.3	+	8	3076	c.3033C>T	c.(3031-3033)ctC>ctT	p.L1011L	ZNF292_ENST00000339907.4_Silent_p.L1006L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1011						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.K867fs*3(1)|p.L866L(1)|p.K1012fs*3(1)|p.L1011L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CAGAAACTCTCAAAATAGGTG	0.358																																					p.L1011L												.	.	4	Deletion - Frameshift(2)|Substitution - coding silent(2)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)	c.C3033T	6						.						65.0	63.0	63.0					6																	87966380		1837	4082	5919	88023099	SO:0001819	synonymous_variant	23036	exon8			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3033C>T	6.37:g.87966380C>T			88023099	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	CCDS47457.1																																																																																				0.358	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
ZNF292	23036	broad.mit.edu	37	6	87969426	87969426	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:87969426G>A	ENST00000369577.3	+	8	6122	c.6079G>A	c.(6079-6081)Gca>Aca	p.A2027T	ZNF292_ENST00000339907.4_Missense_Mutation_p.A2022T	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2027						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A2027T(1)|p.A1882T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGAATTGAGAGCAGAGACCCA	0.388																																					p.A2027T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6079A	6						.						21.0	19.0	20.0					6																	87969426		1829	4080	5909	88026145	SO:0001583	missense	23036	exon8			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6079G>A	6.37:g.87969426G>A	ENSP00000358590:p.Ala2027Thr		88026145	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	2.038	-0.420721	0.04734	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.06933	3.24;3.25	5.87	-0.976	0.10286	.	0.916467	0.09458	N	0.799492	T	0.02119	0.0066	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45381	-0.9265	10	0.42905	T	0.14	.	5.1817	0.15163	0.3729:0.0:0.4104:0.2167	.	2027	O60281	ZN292_HUMAN	T	2027;2022	ENSP00000358590:A2027T;ENSP00000342847:A2022T	ENSP00000342847:A2022T	A	+	1	0	ZNF292	88026145	0.000000	0.05858	0.297000	0.24988	0.163000	0.22366	-0.551000	0.06027	-0.107000	0.12088	-0.136000	0.14681	GCA		0.388	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
RNGTT	8732	broad.mit.edu	37	6	89323996	89323996	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:89323996G>A	ENST00000369485.4	-	15	1811	c.1625C>T	c.(1624-1626)gCc>gTc	p.A542V	RNGTT_ENST00000265607.6_Missense_Mutation_p.A519V|RNGTT_ENST00000538899.1_Missense_Mutation_p.A459V	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	542	GTase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)	p.A542V(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CTCACCCATGGCAGTGTTGTA	0.368																																					p.A542V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1625T	6						.						150.0	133.0	139.0					6																	89323996		2203	4300	6503	89380715	SO:0001583	missense	8732	exon15			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.1625C>T	6.37:g.89323996G>A	ENSP00000358497:p.Ala542Val		89380715	NM_003800	E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	ENST00000369485.4	37	CCDS5017.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827928	0.90955	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746	T;T;T	0.19806	2.17;2.13;2.12	5.31	5.31	0.75309	Nucleic acid-binding, OB-fold-like (1);mRNA capping enzyme, C-terminal (1);Nucleic acid-binding, OB-fold (1);	0.091921	0.85682	D	0.000000	T	0.27027	0.0662	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.995;0.997	T	0.01824	-1.1266	10	0.08837	T	0.75	-0.8669	19.4015	0.94632	0.0:0.0:1.0:0.0	.	459;519;542	B4DSJ8;O60942-2;O60942	.;.;MCE1_HUMAN	V	542;519;459;513	ENSP00000358497:A542V;ENSP00000265607:A519V;ENSP00000442609:A459V	ENSP00000265607:A519V	A	-	2	0	RNGTT	89380715	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.669000	0.90835	0.460000	0.39030	GCC		0.368	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1		
MDN1	23195	broad.mit.edu	37	6	90396700	90396700	+	Silent	SNP	G	G	A	rs548489467		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:90396700G>A	ENST00000369393.3	-	69	11608	c.11493C>T	c.(11491-11493)acC>acT	p.T3831T	MDN1_ENST00000428876.1_Silent_p.T3831T			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3831					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.T3831T(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGGATTTCTCGGTGTGGCGCT	0.433													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19491	0.0		0.0	False		,,,				2504	0.0				p.T3831T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C11493T	6						.						183.0	175.0	178.0					6																	90396700		2203	4300	6503	90453421	SO:0001819	synonymous_variant	23195	exon69			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11493C>T	6.37:g.90396700G>A			90453421	NM_014611	O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	CCDS5024.1																																																																																				0.433	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	broad.mit.edu	37	6	90482360	90482360	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:90482360G>T	ENST00000369393.3	-	14	2130	c.2015C>A	c.(2014-2016)cCt>cAt	p.P672H	MDN1_ENST00000428876.1_Missense_Mutation_p.P672H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	672					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.P672H(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAGCAACACAGGCTCCCCTTT	0.517																																					p.P672H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2015A	6						.						126.0	128.0	127.0					6																	90482360		2203	4300	6503	90539081	SO:0001583	missense	23195	exon14			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2015C>A	6.37:g.90482360G>T	ENSP00000358400:p.Pro672His		90539081	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480108	0.63849	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.39229	1.09;1.09;1.09	5.65	4.78	0.61160	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.059101	0.64402	D	0.000001	T	0.63616	0.2526	M	0.91612	3.225	0.58432	D	0.999997	D;D	0.76494	0.999;0.998	D;D	0.80764	0.985;0.994	T	0.72557	-0.4257	10	0.51188	T	0.08	.	14.3471	0.66675	0.0711:0.0:0.9289:0.0	.	599;672	Q5T795;Q9NU22	.;MDN1_HUMAN	H	672;672;599	ENSP00000358400:P672H;ENSP00000413970:P672H;ENSP00000409664:P599H	ENSP00000358400:P672H	P	-	2	0	MDN1	90539081	1.000000	0.71417	0.914000	0.36105	0.988000	0.76386	9.438000	0.97539	1.390000	0.46547	0.650000	0.86243	CCT		0.517	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	broad.mit.edu	37	6	90484370	90484370	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:90484370C>T	ENST00000369393.3	-	13	2019	c.1904G>A	c.(1903-1905)cGg>cAg	p.R635Q	MDN1_ENST00000428876.1_Missense_Mutation_p.R635Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	635					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.R635Q(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACTTTGTTTCCGTAGAAGCCG	0.443																																					p.R635Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1904A	6						.						154.0	140.0	144.0					6																	90484370		2203	4300	6503	90541091	SO:0001583	missense	23195	exon13			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1904G>A	6.37:g.90484370C>T	ENSP00000358400:p.Arg635Gln		90541091	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.492963	0.44352	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.19938	3.94;3.94;2.11	5.32	5.32	0.75619	.	0.126402	0.49305	D	0.000154	T	0.12220	0.0297	M	0.79475	2.455	0.40709	D	0.982552	B;P	0.43477	0.265;0.808	B;B	0.32980	0.032;0.156	T	0.05419	-1.0886	10	0.23302	T	0.38	.	13.3412	0.60545	0.0:0.9221:0.0:0.0779	.	562;635	Q5T795;Q9NU22	.;MDN1_HUMAN	Q	635;635;562	ENSP00000358400:R635Q;ENSP00000413970:R635Q;ENSP00000409664:R562Q	ENSP00000358400:R635Q	R	-	2	0	MDN1	90541091	1.000000	0.71417	0.992000	0.48379	0.612000	0.37316	4.261000	0.58841	2.493000	0.84123	0.655000	0.94253	CGG		0.443	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
CASP8AP2	9994	broad.mit.edu	37	6	90572378	90572378	+	RNA	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:90572378G>A	ENST00000551025.1	+	0	2387									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AAAGGTGAACGCATTAACTCT	0.388																																					p.R317H	Colon(187;1656 2025 17045 31481 39901)											.	.	0			c.G950A	6						.						106.0	109.0	108.0					6																	90572378		1853	4099	5952	90629099			9994	exon7			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90572378G>A			90629099	NM_001137667		Missense_Mutation	SNP	ENST00000551025.1	37																																																																																					0.388	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667	
NDUFAF4	29078	broad.mit.edu	37	6	97339122	97339122	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:97339122A>G	ENST00000316149.7	-	3	465	c.386T>C	c.(385-387)tTc>tCc	p.F129S	NDUFAF4_ENST00000489477.1_5'UTR	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4	129					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)		p.F129S(1)		large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						GGTTTCTGGGAAAAGCTTATG	0.333																																					p.F129S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T386C	6						.						66.0	68.0	67.0					6																	97339122		2202	4300	6502	97445843	SO:0001583	missense	29078	exon3			AF161474	CCDS5037.1	6q16.3	2012-10-12	2012-05-08	2009-03-18	ENSG00000123545	ENSG00000123545		"""Mitochondrial respiratory chain complex assembly factors"""	21034	protein-coding gene	gene with protein product		611776	"""chromosome 6 open reading frame 66"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4"""	C6orf66		11042152, 18179882	Standard	NM_014165		Approved	HSPC125, bA22L21.1, My013, HRPAP20	uc003pow.3	Q9P032	OTTHUMG00000015246	ENST00000316149.7:c.386T>C	6.37:g.97339122A>G	ENSP00000358272:p.Phe129Ser		97445843	NM_014165	B2R4J5	Missense_Mutation	SNP	ENST00000316149.7	37	CCDS5037.1	.	.	.	.	.	.	.	.	.	.	A	6.096	0.386023	0.11524	.	.	ENSG00000123545	ENST00000316149	T	0.80824	-1.42	5.27	-0.0481	0.13840	.	0.896481	0.09963	N	0.733194	T	0.19127	0.0459	N	0.00246	-1.78	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30268	-0.9984	10	0.21014	T	0.42	-5.6649	4.3835	0.11305	0.1016:0.0773:0.4035:0.4176	.	129	Q9P032	NDUF4_HUMAN	S	129	ENSP00000358272:F129S	ENSP00000358272:F129S	F	-	2	0	NDUFAF4	97445843	0.277000	0.24220	0.941000	0.38009	0.565000	0.35776	0.687000	0.25407	0.313000	0.23062	-0.275000	0.10095	TTC		0.333	NDUFAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041567.1	NM_014165	
FBXL4	26235	broad.mit.edu	37	6	99353377	99353377	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:99353377C>T	ENST00000369244.2	-	6	1456	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	FBXL4_ENST00000229971.1_Missense_Mutation_p.R343H	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	343					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.R343H(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		AAGAGTGCAGCGAGACTGTAG	0.448																																					p.R343H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1028A	6						.						168.0	159.0	162.0					6																	99353377		2203	4300	6503	99460098	SO:0001583	missense	26235	exon5			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1028G>A	6.37:g.99353377C>T	ENSP00000358247:p.Arg343His		99460098	NM_012160	B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	37	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991788	0.93106	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.18174	2.23;2.23	5.43	5.43	0.79202	.	0.049091	0.85682	D	0.000000	T	0.35008	0.0917	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.05321	-1.0892	10	0.49607	T	0.09	.	17.412	0.87488	0.0:1.0:0.0:0.0	.	343	Q9UKA2	FBXL4_HUMAN	H	343	ENSP00000358247:R343H;ENSP00000229971:R343H	ENSP00000229971:R343H	R	-	2	0	FBXL4	99460098	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.487000	0.81328	2.543000	0.85770	0.591000	0.81541	CGC		0.448	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2		
TIAM2	26230	broad.mit.edu	37	6	155561691	155561693	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	AGG	AGG	AGG	-	AGG	AGG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:155561691_155561693delAGG	ENST00000461783.3	+	18	4469_4471	c.3196_3198delAGG	c.(3196-3198)aggdel	p.R1066del	TIAM2_ENST00000456144.1_In_Frame_Del_p.R1066del|TIAM2_ENST00000360366.4_In_Frame_Del_p.R1090del|TIAM2_ENST00000529824.2_In_Frame_Del_p.R1066del|TIAM2_ENST00000275246.7_5'UTR|TIAM2_ENST00000367174.2_In_Frame_Del_p.R442del|TIAM2_ENST00000318981.5_In_Frame_Del_p.R1066del|TIAM2_ENST00000528391.2_In_Frame_Del_p.R402del|TIAM2_ENST00000456877.2_In_Frame_Del_p.R378del			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1066				R -> K (in Ref. 7; BAC86170). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1066delR(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGCACTGTGCAGGAGTTTTAACG	0.591																																					p.1066_1066del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.3196_3198del	6						.																																			155603385	SO:0001651	inframe_deletion	26230	exon15				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3196_3198delAGG	6.37:g.155561691_155561693delAGG	ENSP00000437188:p.Arg1066del		155603383	NM_012454	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	In_Frame_Del	DEL	ENST00000461783.3	37	CCDS34558.1																																																																																				0.591	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
MAP3K4	4216	broad.mit.edu	37	6	161469776	161469776	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:161469776delA	ENST00000392142.4	+	3	620	c.472delA	c.(472-474)aaafs	p.K159fs	MAP3K4_ENST00000366920.2_Frame_Shift_Del_p.K159fs|MAP3K4_ENST00000348824.7_Frame_Shift_Del_p.K159fs|MAP3K4_ENST00000366919.2_Frame_Shift_Del_p.K159fs|MAP3K4_ENST00000446500.1_3'UTR	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	159					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.N160fs*8(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GCGTGATCGTAAAAAAAATGT	0.403																																					p.K158fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.472delA	6						.						115.0	115.0	115.0					6																	161469776		2203	4300	6503	161389766	SO:0001589	frameshift_variant	4216	exon3			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.472delA	6.37:g.161469776delA	ENSP00000375986:p.Lys159fs		161389766	NM_006724	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Frame_Shift_Del	DEL	ENST00000392142.4	37	CCDS34565.1																																																																																				0.403	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
WDR27	253769	broad.mit.edu	37	6	170059580	170059580	+	Silent	SNP	C	C	T	rs200797705		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr6:170059580C>T	ENST00000448612.1	-	11	1273	c.1164G>A	c.(1162-1164)tcG>tcA	p.S388S	WDR27_ENST00000423258.1_Silent_p.S261S|WDR27_ENST00000333572.6_Silent_p.S388S|WDR27_ENST00000546525.1_5'UTR	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	358						nucleus (GO:0005634)		p.S388S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TCAGGGCACACGATCCGGCCA	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		20321	0.0		0.001	False		,,,				2504	0.0				p.S388S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1164A	6						.						53.0	63.0	60.0					6																	170059580		2116	4236	6352	169801505	SO:0001819	synonymous_variant	253769	exon11			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.1164G>A	6.37:g.170059580C>T			169801505	NM_182552	A5PLM8|C9JGV0|Q5T066	Silent	SNP	ENST00000448612.1	37	CCDS47520.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	1.397	-0.579072	0.03854	.	.	ENSG00000184465	ENST00000441385	.	.	.	4.7	-9.4	0.00616	.	.	.	.	.	T	0.30262	0.0759	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53606	-0.8415	4	.	.	.	-19.4654	9.0423	0.36325	0.0:0.1106:0.2915:0.598	.	.	.	.	H	22	.	.	R	-	2	0	WDR27	169801505	0.001000	0.12720	0.019000	0.16419	0.032000	0.12392	-4.204000	0.00274	-2.542000	0.00485	-1.259000	0.01468	CGT		0.552	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552	
LRCH4	4034	broad.mit.edu	37	7	100180080	100180080	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:100180080G>A	ENST00000310300.6	-	2	275	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	75					nervous system development (GO:0007399)	PML body (GO:0016605)		p.L75L(1)		NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTCCGGGACAGGTCTGGGGAA	0.667																																					p.L75L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C223T	7						.						29.0	31.0	31.0					7																	100180080		2203	4300	6503	100018016	SO:0001819	synonymous_variant	4034	exon2			AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.223C>T	7.37:g.100180080G>A			100018016	NM_002319	A4D2D5|Q8WV85|Q96ID0	Silent	SNP	ENST00000310300.6	37	CCDS34706.1																																																																																				0.667	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319	
SRRT	51593	broad.mit.edu	37	7	100485895	100485895	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:100485895G>A	ENST00000347433.4	+	19	2604	c.2446G>A	c.(2446-2448)Gca>Aca	p.A816T	SRRT_ENST00000432932.1_Missense_Mutation_p.A811T|SRRT_ENST00000388793.4_Missense_Mutation_p.A815T|SRRT_ENST00000457580.2_Missense_Mutation_p.A812T			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	816	Pro-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.A816T(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGTCCGCCCTGCAGTCCCCAC	0.552																																					p.A815T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2443A	7						.						67.0	72.0	71.0					7																	100485895		2203	4300	6503	100323831	SO:0001583	missense	51593	exon19				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.2446G>A	7.37:g.100485895G>A	ENSP00000314491:p.Ala816Thr		100323831	NM_001128852	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	CCDS34709.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.27|13.27	2.187255|2.187255	0.38609|0.38609	.|.	.|.	ENSG00000087087|ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433|ENST00000342198	.|.	.|.	.|.	4.41|4.41	2.54|2.54	0.30619|0.30619	Arsenite-resistance protein 2 (1);|.	0.265757|.	0.26304|.	N|.	0.025150|.	T|T	0.13970|0.13970	0.0338|0.0338	N|N	0.08118|0.08118	0|0	0.25824|0.25824	N|N	0.984248|0.984248	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.09377|.	0.002;0.002;0.002;0.004|.	T|T	0.27157|0.27157	-1.0082|-1.0082	9|6	0.22706|0.02654	T|T	0.39|1	.|.	7.1208|7.1208	0.25444|0.25444	0.2143:0.0:0.7857:0.0|0.2143:0.0:0.7857:0.0	.|.	815;811;812;816|.	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5|.	.;.;.;SRRT_HUMAN|.	T|Y	812;815;811;816|180	.|.	ENSP00000314491:A816T|ENSP00000344670:C180Y	A|C	+|+	1|2	0|0	SRRT|SRRT	100323831|100323831	0.986000|0.986000	0.35501|0.35501	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	-0.232000|-0.232000	0.09055|0.09055	1.069000|1.069000	0.40788|0.40788	0.484000|0.484000	0.47621|0.47621	GCA|TGC		0.552	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908	
LRRC17	10234	broad.mit.edu	37	7	102574641	102574641	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:102574641G>A	ENST00000339431.4	+	2	576	c.281G>A	c.(280-282)cGc>cAc	p.R94H	FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000379305.3_Intron|LRRC17_ENST00000249377.4_Missense_Mutation_p.R94H	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	94					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)		p.R94H(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						AACAAGATCCGCACATTGAAG	0.403																																					p.R94H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G281A	7						.						61.0	61.0	61.0					7																	102574641		2203	4300	6503	102361877	SO:0001583	missense	10234	exon2			U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.281G>A	7.37:g.102574641G>A	ENSP00000344242:p.Arg94His		102361877	NM_005824	Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	ENST00000339431.4	37	CCDS34721.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682471	0.88542	.	.	ENSG00000128606	ENST00000339431;ENST00000249377;ENST00000455453	T;T;D	0.83914	0.28;0.28;-1.78	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000013	D	0.89266	0.6666	L	0.49513	1.565	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.938	D	0.88474	0.3064	10	0.54805	T	0.06	-25.4376	20.2786	0.98501	0.0:0.0:1.0:0.0	.	94;94	Q8N6Y2;Q8N6Y2-2	LRC17_HUMAN;.	H	94	ENSP00000344242:R94H;ENSP00000249377:R94H;ENSP00000394194:R94H	ENSP00000249377:R94H	R	+	2	0	LRRC17	102361877	1.000000	0.71417	0.970000	0.41538	0.995000	0.86356	7.149000	0.77396	2.868000	0.98415	0.557000	0.71058	CGC		0.403	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824	
LSMEM1	286006	broad.mit.edu	37	7	112124909	112124909	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:112124909T>A	ENST00000312849.4	+	2	399	c.38T>A	c.(37-39)aTt>aAt	p.I13N	LSMEM1_ENST00000439068.2_Missense_Mutation_p.I13N|LSMEM1_ENST00000429049.1_Missense_Mutation_p.I13N	NM_182597.2	NP_872403.1	Q8N8F7	LSME1_HUMAN	leucine-rich single-pass membrane protein 1	13						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.I13N(1)									TCTTGTGGCATTCAGGAAGAT	0.438																																					p.I13N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T38A	7						.						159.0	151.0	154.0					7																	112124909		2203	4300	6503	111912145	SO:0001583	missense	286006	exon2			AK096894	CCDS5756.1	7q31.1	2013-03-08	2013-03-08	2013-03-08	ENSG00000181016	ENSG00000181016			22036	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 53"""	C7orf53			Standard	NM_182597		Approved	FLJ39575	uc011kmq.2	Q8N8F7	OTTHUMG00000155190	ENST00000312849.4:c.38T>A	7.37:g.112124909T>A	ENSP00000323304:p.Ile13Asn		111912145	NM_001134468	Q49AR6	Missense_Mutation	SNP	ENST00000312849.4	37	CCDS5756.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766120	0.69878	.	.	ENSG00000181016	ENST00000439068;ENST00000312849;ENST00000429049	.	.	.	5.81	2.18	0.27775	.	1.438730	0.04121	N	0.316345	T	0.36026	0.0952	L	0.44542	1.39	0.09310	N	1	B	0.26195	0.144	B	0.24155	0.051	T	0.22068	-1.0227	9	0.36615	T	0.2	-19.7873	5.8778	0.18838	0.0:0.366:0.0:0.634	.	13	Q8N8F7	CG053_HUMAN	N	13	.	ENSP00000323304:I13N	I	+	2	0	C7orf53	111912145	0.003000	0.15002	0.000000	0.03702	0.669000	0.39330	1.065000	0.30592	0.468000	0.27243	0.533000	0.62120	ATT		0.438	LSMEM1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338716.2	NM_182597	
CTTNBP2	83992	broad.mit.edu	37	7	117417770	117417770	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:117417770C>T	ENST00000160373.3	-	8	2664	c.2573G>A	c.(2572-2574)aGc>aAc	p.S858N		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	858					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.S858N(1)|p.S858T(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AAGCTTGAGGCTGTCCACATT	0.448																																					p.S858N												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G2573A	7						.						72.0	73.0	73.0					7																	117417770		2203	4300	6503	117205006	SO:0001583	missense	83992	exon8				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2573G>A	7.37:g.117417770C>T	ENSP00000160373:p.Ser858Asn		117205006	NM_033427	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627492	0.46944	.	.	ENSG00000077063	ENST00000160373	T	0.53206	0.63	5.46	4.57	0.56435	Ankyrin repeat-containing domain (3);	0.314292	0.41294	N	0.000903	T	0.38134	0.1029	L	0.29908	0.895	0.27966	N	0.936571	B	0.14438	0.01	B	0.19148	0.024	T	0.34825	-0.9813	10	0.51188	T	0.08	-19.3366	14.4114	0.67117	0.0:0.9285:0.0:0.0715	.	858	Q8WZ74	CTTB2_HUMAN	N	858	ENSP00000160373:S858N	ENSP00000160373:S858N	S	-	2	0	CTTNBP2	117205006	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.354000	0.52254	1.427000	0.47276	0.650000	0.86243	AGC		0.448	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
SLC13A1	6561	broad.mit.edu	37	7	122768983	122768983	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:122768983G>A	ENST00000194130.2	-	10	1088	c.1049C>T	c.(1048-1050)aCc>aTc	p.T350I	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	350					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.T350I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GAGGACCAAGGTCACAATTTC	0.418																																					p.T350I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1049T	7						.						80.0	70.0	73.0					7																	122768983		2203	4300	6503	122556219	SO:0001583	missense	6561	exon10				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1049C>T	7.37:g.122768983G>A	ENSP00000194130:p.Thr350Ile		122556219	NM_022444	Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314095	0.81358	.	.	ENSG00000081800	ENST00000194130	T	0.01963	4.53	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.11281	0.0275	L	0.60067	1.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01863	-1.1258	10	0.37606	T	0.19	-12.486	19.2443	0.93896	0.0:0.0:1.0:0.0	.	350;350	A4D0X1;Q9BZW2	.;S13A1_HUMAN	I	350	ENSP00000194130:T350I	ENSP00000194130:T350I	T	-	2	0	SLC13A1	122556219	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.164000	0.89661	2.797000	0.96272	0.563000	0.77884	ACC		0.418	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444	
CHRM2	1129	broad.mit.edu	37	7	136700946	136700946	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:136700946C>G	ENST00000445907.2	+	3	1862	c.1334C>G	c.(1333-1335)gCc>gGc	p.A445G	hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.A445G|CHRM2_ENST00000320658.5_Missense_Mutation_p.A445G|CHRM2_ENST00000397608.3_Missense_Mutation_p.A445G|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.A445G|CHRM2_ENST00000401861.1_Missense_Mutation_p.A445G|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000592183.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	445					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.A445G(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CTTTGCAATGCCACCTTCAAG	0.423																																					p.A445G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1334G	7						.						209.0	182.0	191.0					7																	136700946		2203	4300	6503	136351486	SO:0001583	missense	1129	exon4				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1334C>G	7.37:g.136700946C>G	ENSP00000399745:p.Ala445Gly		136351486	NM_000739	Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928784	0.34002	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21	5.81	5.81	0.92471	.	0.286953	0.39615	N	0.001313	T	0.43656	0.1257	L	0.58428	1.81	0.37356	D	0.911028	B	0.29716	0.255	B	0.35278	0.199	T	0.41840	-0.9486	10	0.42905	T	0.14	-0.0118	20.0912	0.97820	0.0:1.0:0.0:0.0	.	445	P08172	ACM2_HUMAN	G	445	ENSP00000399745:A445G;ENSP00000415386:A445G;ENSP00000319984:A445G;ENSP00000380733:A445G;ENSP00000384937:A445G;ENSP00000384401:A445G	ENSP00000319984:A445G	A	+	2	0	CHRM2	136351486	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.432000	0.44784	2.746000	0.94184	0.591000	0.81541	GCC		0.423	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1		
KIAA1549	57670	broad.mit.edu	37	7	138602338	138602338	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:138602338C>T	ENST00000422774.1	-	2	2082	c.2034G>A	c.(2032-2034)ctG>ctA	p.L678L	KIAA1549_ENST00000440172.1_Silent_p.L678L|KIAA1549_ENST00000242365.4_Silent_p.L628L			Q9HCM3	K1549_HUMAN	KIAA1549	678	Ser-rich.					integral component of membrane (GO:0016021)		p.L678L(1)|p.L628L(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GAGATGACTGCAGATCACTAG	0.473			O	BRAF	pilocytic astrocytoma																																p.L678L	NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2034A	7						.						57.0	56.0	56.0					7																	138602338		1962	4170	6132	138252878	SO:0001819	synonymous_variant	57670	exon2				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.2034G>A	7.37:g.138602338C>T			138252878	NM_001164665	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	CCDS56513.1																																																																																				0.473	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1		
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												p.V600E	Colon(40;35 892 2973 5743 27438)		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	BRAF,pituitary,NS,Substitution - Missense,0 	.	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	c.T1799A	7						.						112.0	104.0	107.0					7																	140453136		2203	4300	6503	140099605	SO:0001583	missense	673	exon15	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		140099605	NM_004333	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
TAS2R3	50831	broad.mit.edu	37	7	141464298	141464298	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:141464298T>C	ENST00000247879.2	+	1	402	c.340T>C	c.(340-342)Ttc>Ctc	p.F114L	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	114					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.F114L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					AATCGCCAGTTTCTCTCACCC	0.468																																					p.F114L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T340C	7						.						252.0	230.0	237.0					7																	141464298		2203	4300	6503	141110767	SO:0001583	missense	50831	exon1			AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.340T>C	7.37:g.141464298T>C	ENSP00000247879:p.Phe114Leu		141110767	NM_016943	A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.695137	0.88830	.	.	ENSG00000127362	ENST00000247879	T	0.36699	1.24	6.04	6.04	0.98038	.	0.284524	0.35013	N	0.003517	T	0.69433	0.3110	H	0.95004	3.61	0.37965	D	0.933105	D	0.67145	0.996	D	0.69654	0.965	T	0.80806	-0.1218	10	0.66056	D	0.02	.	14.5406	0.67990	0.0:0.0:0.0:1.0	.	114	Q9NYW6	TA2R3_HUMAN	L	114	ENSP00000247879:F114L	ENSP00000247879:F114L	F	+	1	0	TAS2R3	141110767	0.998000	0.40836	0.992000	0.48379	0.794000	0.44872	3.655000	0.54460	2.317000	0.78254	0.460000	0.39030	TTC		0.468	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1		
EPHB6	2051	broad.mit.edu	37	7	142561984	142561984	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:142561984C>A	ENST00000392957.2	+	7	1213	c.426C>A	c.(424-426)gaC>gaA	p.D142E	EPHB6_ENST00000442129.1_Missense_Mutation_p.D142E|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	142	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.D127E(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					ACAGCCCTGACAGCGTTTCCT	0.617																																					p.D142E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C426A	7						.						57.0	59.0	58.0					7																	142561984		2203	4300	6503	142272106	SO:0001583	missense	2051	exon7			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.426C>A	7.37:g.142561984C>A	ENSP00000376684:p.Asp142Glu		142272106	NM_004445	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	C	2.702	-0.270653	0.05716	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.09255	3.0;3.0	5.6	0.352	0.16051	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.772621	0.11401	N	0.567770	T	0.04003	0.0112	N	0.11201	0.11	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45056	-0.9287	10	0.06099	T	0.92	.	4.5545	0.12130	0.1141:0.2848:0.4583:0.1428	.	142	O15197	EPHB6_HUMAN	E	142	ENSP00000376684:D142E;ENSP00000410789:D142E	ENSP00000376684:D142E	D	+	3	2	EPHB6	142272106	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-0.219000	0.09228	0.051000	0.15978	-0.122000	0.15005	GAC		0.617	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1		
CLCN1	1180	broad.mit.edu	37	7	143048992	143048992	+	Silent	SNP	C	C	T	rs143082508	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:143048992C>T	ENST00000343257.2	+	23	2988	c.2901C>T	c.(2899-2901)gcC>gcT	p.A967A		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	967					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.A967A(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AGGAGCTGGCCGACATCTTGC	0.627													c|||	2	0.000399361	0.0	0.0	5008	,	,		16351	0.002		0.0	False		,,,				2504	0.0				p.A967A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2901T	7						.						70.0	71.0	71.0					7																	143048992		2203	4300	6503	142759114	SO:0001819	synonymous_variant	1180	exon23			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2901C>T	7.37:g.143048992C>T			142759114	NM_000083	A4D2H5|Q2M202	Silent	SNP	ENST00000343257.2	37	CCDS5881.1																																																																																				0.627	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083	
CNTNAP2	26047	broad.mit.edu	37	7	147815226	147815226	+	Silent	SNP	C	C	T	rs568803366		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:147815226C>T	ENST00000361727.3	+	16	2916	c.2400C>T	c.(2398-2400)gcC>gcT	p.A800A		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	800	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.A800A(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTGGAATGCCGCCTCTTTCC	0.438										HNSCC(39;0.1)																											p.A800A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2400T	7						.						135.0	136.0	135.0					7																	147815226		2203	4300	6503	147446159	SO:0001819	synonymous_variant	26047	exon16			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2400C>T	7.37:g.147815226C>T			147446159	NM_014141	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	CCDS5889.1																																																																																				0.438	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
ZNF212	7988	broad.mit.edu	37	7	148950682	148950682	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:148950682T>C	ENST00000335870.2	+	5	792	c.664T>C	c.(664-666)Tat>Cat	p.Y222H		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.Y222H(1)		endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GGAGCTACAGTATACACAGGA	0.498																																					p.Y222H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T664C	7						.						64.0	66.0	65.0					7																	148950682		2203	4300	6503	148581615	SO:0001583	missense	7988	exon5			U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"""Zinc fingers, C2H2-type"", ""-"""	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.664T>C	7.37:g.148950682T>C	ENSP00000338572:p.Tyr222His		148581615	NM_012256	B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	ENST00000335870.2	37	CCDS5896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.60|10.60	1.394885|1.394885	0.25205|0.25205	.|.	.|.	ENSG00000170260|ENSG00000170260	ENST00000481584|ENST00000335870	.|T	.|0.06608	.|3.28	5.42|5.42	1.65|1.65	0.23941|0.23941	.|.	.|0.291495	.|0.24920	.|N	.|0.034558	T|T	0.04092|0.04092	0.0114|0.0114	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	T|T	0.45818|0.45818	-0.9235|-0.9235	5|10	.|0.15499	.|T	.|0.54	-4.298|-4.298	4.6757|4.6757	0.12710|0.12710	0.1407:0.1586:0.0:0.7007|0.1407:0.1586:0.0:0.7007	.|.	.|222	.|Q9UDV6	.|ZN212_HUMAN	A|H	135|222	.|ENSP00000338572:Y222H	.|ENSP00000338572:Y222H	V|Y	+|+	2|1	0|0	ZNF212|ZNF212	148581615|148581615	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.622000|0.622000	0.37654|0.37654	0.170000|0.170000	0.16663|0.16663	0.040000|0.040000	0.15660|0.15660	0.533000|0.533000	0.62120|0.62120	GTA|TAT		0.498	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256	
GIMAP4	55303	broad.mit.edu	37	7	150269440	150269440	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:150269440G>A	ENST00000255945.2	+	3	457	c.282G>A	c.(280-282)gtG>gtA	p.V94V	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Silent_p.V108V	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	94	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)	p.V94V(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACACAGAGGTGCCCAATGCTG	0.507																																					p.V94V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G282A	7						.						122.0	106.0	111.0					7																	150269440		2203	4300	6503	149900373	SO:0001819	synonymous_variant	55303	exon3			AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.282G>A	7.37:g.150269440G>A			149900373	NM_018326		Silent	SNP	ENST00000255945.2	37	CCDS5904.1																																																																																				0.507	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326	
SLC4A2	6522	broad.mit.edu	37	7	150768867	150768867	+	Silent	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:150768867C>A	ENST00000485713.1	+	15	3323	c.2283C>A	c.(2281-2283)ccC>ccA	p.P761P	SLC4A2_ENST00000461735.1_Silent_p.P747P|SLC4A2_ENST00000310317.5_Silent_p.P679P|SLC4A2_ENST00000392826.2_Silent_p.P752P|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000413384.2_Silent_p.P761P	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	761	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)	p.P761P(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGCCCAGCCCCTGTTGGTGA	0.642																																					p.P747P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2241A	7						.						80.0	89.0	86.0					7																	150768867		2203	4300	6503	150399800	SO:0001819	synonymous_variant	6522	exon14				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2283C>A	7.37:g.150768867C>A			150399800	NM_001199694	B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	CCDS5917.1																																																																																				0.642	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040	
FSCN1	6624	broad.mit.edu	37	7	5645021	5645021	+	Silent	SNP	C	C	T	rs568861608		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:5645021C>T	ENST00000382361.3	+	5	1512	c.1398C>T	c.(1396-1398)ggC>ggT	p.G466G	FSCN1_ENST00000340250.6_Silent_p.G445G	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	466					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)	p.G466G(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		TCAAGGTGGGCGGGCGCTACC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		16633	0.0		0.0	False		,,,				2504	0.001				p.G466G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1398T	7						.						52.0	45.0	48.0					7																	5645021		2203	4300	6503	5611547	SO:0001819	synonymous_variant	6624	exon5			U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"""Fascins"""	11148	protein-coding gene	gene with protein product	"""Singed, drosophila, homolog-like"", ""actin bundling protein"""	602689	"""singed (Drosophila)-like (sea urchin fascin homolog like)"", ""fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"""	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.1398C>T	7.37:g.5645021C>T			5611547	NM_003088	A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Silent	SNP	ENST00000382361.3	37	CCDS5342.1																																																																																				0.657	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3	NM_003088	
MACC1	346389	broad.mit.edu	37	7	20199355	20199355	+	Missense_Mutation	SNP	G	G	A	rs535198484		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:20199355G>A	ENST00000400331.5	-	5	937	c.629C>T	c.(628-630)gCg>gTg	p.A210V	MACC1_ENST00000332878.4_Missense_Mutation_p.A210V|MACC1_ENST00000589011.1_Missense_Mutation_p.A210V	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	210					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A210V(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GGTGACCTCCGCAAGTTGTGT	0.493																																					p.A210V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C629T	7						.						68.0	63.0	65.0					7																	20199355		2203	4300	6503	20165880	SO:0001583	missense	346389	exon5				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.629C>T	7.37:g.20199355G>A	ENSP00000383185:p.Ala210Val		20165880	NM_182762	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.412661	0.01145	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.07688	3.17;3.17	5.71	5.71	0.89125	.	0.146936	0.64402	D	0.000010	T	0.04815	0.0130	N	0.17082	0.46	0.31820	N	0.626051	B	0.26002	0.139	B	0.12156	0.007	T	0.10200	-1.0640	10	0.02654	T	1	-15.7834	14.0586	0.64786	0.0718:0.0:0.9282:0.0	.	210	Q6ZN28	MACC1_HUMAN	V	210	ENSP00000383185:A210V;ENSP00000328410:A210V	ENSP00000328410:A210V	A	-	2	0	MACC1	20165880	1.000000	0.71417	0.969000	0.41365	0.075000	0.17131	5.819000	0.69243	2.685000	0.91497	0.585000	0.79938	GCG		0.493	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762	
ABCB5	340273	broad.mit.edu	37	7	20782556	20782556	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:20782556C>T	ENST00000404938.2	+	25	3733	c.3081C>T	c.(3079-3081)cgC>cgT	p.R1027R	ABCB5_ENST00000258738.6_Silent_p.R582R	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1027	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.R582R(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATCCATGTCGCCCAGATGTTT	0.468																																					p.R582R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1746T	7						.						142.0	135.0	137.0					7																	20782556		2203	4300	6503	20749081	SO:0001819	synonymous_variant	340273	exon16			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3081C>T	7.37:g.20782556C>T			20749081	NM_178559	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	CCDS55090.1																																																																																				0.468	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	
ABCB5	340273	broad.mit.edu	37	7	20795130	20795130	+	Silent	SNP	C	C	T	rs200868952		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:20795130C>T	ENST00000404938.2	+	28	4309	c.3657C>T	c.(3655-3657)aaC>aaT	p.N1219N	ABCB5_ENST00000258738.6_Silent_p.N774N	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1219	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.N774N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAATTCAGAACGCAGATTTGA	0.448																																					p.N774N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2322T	7						.						108.0	99.0	102.0					7																	20795130		2203	4300	6503	20761655	SO:0001819	synonymous_variant	340273	exon19			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3657C>T	7.37:g.20795130C>T			20761655	NM_178559	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	CCDS55090.1																																																																																				0.448	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	
IL6	3569	broad.mit.edu	37	7	22767172	22767172	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:22767172C>T	ENST00000404625.1	+	3	588	c.129C>T	c.(127-129)caC>caT	p.H43H	IL6_ENST00000258743.5_Silent_p.H43H|IL6_ENST00000407492.1_Intron|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000406575.1_Silent_p.H43H|IL6_ENST00000420258.2_Silent_p.H97H|IL6_ENST00000401651.1_Intron|IL6_ENST00000401630.3_Silent_p.H20H			P05231	IL6_HUMAN	interleukin 6	43					acute-phase response (GO:0006953)|aging (GO:0007568)|bone remodeling (GO:0046849)|branching involved in salivary gland morphogenesis (GO:0060445)|cell growth (GO:0016049)|cell redox homeostasis (GO:0045454)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endocrine pancreas development (GO:0031018)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|glucagon secretion (GO:0070091)|hepatic immune response (GO:0002384)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of hormone secretion (GO:0046888)|negative regulation of lipid storage (GO:0010888)|negative regulation of muscle organ development (GO:0048635)|negative regulation of neuron death (GO:1901215)|negative regulation of protein kinase activity (GO:0006469)|neuron projection development (GO:0031175)|neutrophil apoptotic process (GO:0001781)|neutrophil mediated immunity (GO:0002446)|platelet activation (GO:0030168)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell activation (GO:0050871)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of angiogenesis (GO:0045765)|regulation of cell shape (GO:0008360)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of vascular endothelial growth factor production (GO:0010574)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to caffeine (GO:0031000)|response to calcium ion (GO:0051592)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to peptidoglycan (GO:0032494)|T-helper 17 cell lineage commitment (GO:0072540)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)	p.H43H(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Ginseng(DB01404)	CCGCCCCACACAGACAGCCAC	0.572																																					p.H43H	Esophageal Squamous(47;342 1214 13936 33513)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C129T	7						.						97.0	96.0	96.0					7																	22767172		2203	4300	6503	22733697	SO:0001819	synonymous_variant	3569	exon2			M18403	CCDS5375.1	7p21-p15	2014-04-04	2014-04-04		ENSG00000136244	ENSG00000136244		"""Interleukins and interleukin receptors"", ""Interferons"""	6018	protein-coding gene	gene with protein product	"""interferon, beta 2"""	147620	"""interleukin 6 (interferon, beta 2)"""	IFNB2		3294161	Standard	NM_000600		Approved	IL-6, BSF2, HGF, HSF	uc003svj.4	P05231	OTTHUMG00000023178	ENST00000404625.1:c.129C>T	7.37:g.22767172C>T			22733697	NM_000600	Q9UCU2|Q9UCU3|Q9UCU4	Silent	SNP	ENST00000404625.1	37	CCDS5375.1																																																																																				0.572	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250225.2	NM_000600	
OSBPL3	26031	broad.mit.edu	37	7	24903159	24903159	+	Missense_Mutation	SNP	C	C	T	rs150182562		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:24903159C>T	ENST00000313367.2	-	8	1184	c.733G>A	c.(733-735)Gtc>Atc	p.V245I	OSBPL3_ENST00000409069.1_Missense_Mutation_p.V245I|OSBPL3_ENST00000431825.2_Missense_Mutation_p.V245I|OSBPL3_ENST00000396431.1_Missense_Mutation_p.V245I|OSBPL3_ENST00000352860.1_Missense_Mutation_p.V245I|OSBPL3_ENST00000353930.1_Missense_Mutation_p.V245I|OSBPL3_ENST00000396429.1_Missense_Mutation_p.V245I	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	245					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.V245I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CGATGCAGGACGTCCATGCTT	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		21129	0.001		0.0	False		,,,				2504	0.0				p.V245I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G733A	7						.						196.0	166.0	176.0					7																	24903159		2203	4300	6503	24869684	SO:0001583	missense	26031	exon8			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.733G>A	7.37:g.24903159C>T	ENSP00000315410:p.Val245Ile		24869684	NM_145321	A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	CCDS5390.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.51	1.660523	0.29515	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.41758	2.33;1.0;0.99;2.31;1.0;0.99;2.31	5.87	5.0	0.66597	.	0.119533	0.56097	N	0.000027	T	0.31765	0.0807	L	0.40543	1.245	0.52099	D	0.999944	B;B;B;B;B;B	0.33171	0.093;0.4;0.068;0.068;0.068;0.04	B;B;B;B;B;B	0.27262	0.037;0.078;0.03;0.03;0.03;0.013	T	0.07252	-1.0782	10	0.13853	T	0.58	-12.1051	15.0452	0.71822	0.0:0.9321:0.0:0.0679	.	245;245;245;245;245;245	Q9H4L5-8;Q9H4L5-7;Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;.;.;OSBL3_HUMAN	I	245	ENSP00000315410:V245I;ENSP00000315331:V245I;ENSP00000315277:V245I;ENSP00000389779:V245I;ENSP00000379708:V245I;ENSP00000379706:V245I;ENSP00000386953:V245I	ENSP00000315410:V245I	V	-	1	0	OSBPL3	24869684	0.998000	0.40836	0.918000	0.36340	0.963000	0.63663	3.818000	0.55678	1.497000	0.48584	0.655000	0.94253	GTC		0.552	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2		
NOD1	10392	broad.mit.edu	37	7	30486604	30486604	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:30486604C>T	ENST00000222823.4	-	8	2873	c.2348G>A	c.(2347-2349)tGc>tAc	p.C783Y		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	783					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)	p.C783Y(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GAGGCCTTTGCATTCATCCAG	0.458																																					p.C783Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2348A	7						.						212.0	186.0	195.0					7																	30486604		2203	4300	6503	30453129	SO:0001583	missense	10392	exon8			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2348G>A	7.37:g.30486604C>T	ENSP00000222823:p.Cys783Tyr		30453129	NM_006092	B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.605989	0.66445	.	.	ENSG00000106100	ENST00000222823	T	0.69040	-0.37	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.82834	0.5123	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81274	-0.1007	10	0.42905	T	0.14	.	19.3813	0.94536	0.0:1.0:0.0:0.0	.	783	Q9Y239	NOD1_HUMAN	Y	783	ENSP00000222823:C783Y	ENSP00000222823:C783Y	C	-	2	0	NOD1	30453129	1.000000	0.71417	0.935000	0.37517	0.399000	0.30720	7.257000	0.78362	2.824000	0.97209	0.655000	0.94253	TGC		0.458	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2		
NOD1	10392	broad.mit.edu	37	7	30494853	30494853	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:30494853T>G	ENST00000222823.4	-	5	801	c.276A>C	c.(274-276)caA>caC	p.Q92H	NOD1_ENST00000423334.2_Missense_Mutation_p.Q92H	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	92	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)	p.Q92H(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CATCTGCGAGTTGCTGGAGCA	0.577																																					p.Q92H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A276C	7						.						103.0	90.0	94.0					7																	30494853		2203	4300	6503	30461378	SO:0001583	missense	10392	exon5			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.276A>C	7.37:g.30494853T>G	ENSP00000222823:p.Gln92His		30461378	NM_006092	B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.617762	0.46736	.	.	ENSG00000106100	ENST00000222823;ENST00000423334	T;T	0.20738	2.05;2.05	5.08	-5.93	0.02254	DEATH-like (2);Caspase Recruitment (2);	0.312422	0.33075	N	0.005303	T	0.29749	0.0743	L	0.60455	1.87	0.21445	N	0.99969	D;P	0.67145	0.996;0.873	P;P	0.62014	0.897;0.601	T	0.14227	-1.0480	10	0.72032	D	0.01	.	10.0638	0.42290	0.0995:0.5783:0.0:0.3221	.	92;92	B4DTU3;Q9Y239	.;NOD1_HUMAN	H	92	ENSP00000222823:Q92H;ENSP00000409416:Q92H	ENSP00000222823:Q92H	Q	-	3	2	NOD1	30461378	0.001000	0.12720	0.147000	0.22382	0.415000	0.31203	-1.793000	0.01755	-1.165000	0.02786	0.379000	0.24179	CAA		0.577	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2		
GARS	2617	broad.mit.edu	37	7	30656825	30656825	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:30656825G>A	ENST00000389266.3	+	10	1531	c.1290G>A	c.(1288-1290)cgG>cgA	p.R430R		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	430					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)	p.R430R(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TCCGCTTCCGGCAGCACATGG	0.443																																					p.R430R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1290A	7						.						135.0	127.0	130.0					7																	30656825		1938	4156	6094	30623350	SO:0001819	synonymous_variant	2617	exon10			AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1290G>A	7.37:g.30656825G>A			30623350	NM_002047	B3KQA2|B4DIA0|Q969Y1	Silent	SNP	ENST00000389266.3	37	CCDS43564.1																																																																																				0.443	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047	
FAM188B	84182	broad.mit.edu	37	7	30876298	30876298	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:30876298G>A	ENST00000265299.6	+	7	1234	c.1157G>A	c.(1156-1158)aGg>aAg	p.R386K	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	386								p.R386K(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGTTGATAAGGGAAGAGGTC	0.478																																					p.R386K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1157A	7						.						191.0	188.0	189.0					7																	30876298		2100	4227	6327	30842823	SO:0001583	missense	84182	exon7			AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1157G>A	7.37:g.30876298G>A	ENSP00000265299:p.Arg386Lys		30842823	NM_032222	Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	G	5.551	0.286479	0.10513	.	.	ENSG00000106125	ENST00000265299	T	0.08984	3.03	4.67	-2.9	0.05648	.	0.767316	0.12485	N	0.464796	T	0.05547	0.0146	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33420	-0.9869	10	0.87932	D	0	-10.2571	7.8813	0.29624	0.6491:0.1353:0.2156:0.0	.	386	Q4G0A6	F188B_HUMAN	K	386	ENSP00000265299:R386K	ENSP00000265299:R386K	R	+	2	0	FAM188B	30842823	0.001000	0.12720	0.013000	0.15412	0.025000	0.11179	-0.519000	0.06260	-0.483000	0.06772	-0.806000	0.03193	AGG		0.478	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222	
LSM5	23658	broad.mit.edu	37	7	32528860	32528860	+	Splice_Site	SNP	C	C	T	rs369664416		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:32528860C>T	ENST00000450169.2	-	2	195		c.e2+1		LSM5_ENST00000410044.1_Splice_Site|LSM5_ENST00000409292.1_Splice_Site|LSM5_ENST00000409782.1_Splice_Site|LSM5_ENST00000409952.3_Splice_Site|LSM5_ENST00000409909.3_Splice_Site|LSM5_ENST00000409987.1_Missense_Mutation_p.S48N	NM_001130710.1|NM_012322.2	NP_001124182.1|NP_036454.1	Q9Y4Y9	LSM5_HUMAN	LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae)						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.?(1)		breast(1)|cervix(1)|large_intestine(1)|lung(1)|stomach(1)	5			GBM - Glioblastoma multiforme(11;0.152)			TAAAAGGATACTGACAAAGTC	0.313																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						89.0	80.0	83.0					7																	32528860		2203	4299	6502	32495385	SO:0001630	splice_region_variant	23658	.			AF182291	CCDS5438.1, CCDS47571.1	7p14.3	2003-02-17			ENSG00000106355	ENSG00000106355			17162	protein-coding gene	gene with protein product		607285				10369684, 12515382	Standard	NM_001130710		Approved	YER146W	uc003tct.2	Q9Y4Y9	OTTHUMG00000022913	ENST00000450169.2:c.142+1G>A	7.37:g.32528860C>T			32495385	.		Splice_Site	SNP	ENST00000450169.2	37	CCDS5438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.70|15.70	2.912129|2.912129	0.52439|0.52439	.|.	.|.	ENSG00000106355|ENSG00000106355	ENST00000450169;ENST00000409909;ENST00000409292;ENST00000410044;ENST00000409782;ENST00000409952|ENST00000409987	.|T	.|0.10192	.|2.9	5.79|5.79	0.897|0.897	0.19258|0.19258	.|.	.|.	.|.	.|.	.|.	.|T	.|0.05273	.|0.0140	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.33059	.|-0.9883	.|6	.|0.02654	.|T	.|1	.|.	10.4686|10.4686	0.44622|0.44622	0.0:0.6745:0.0:0.3255|0.0:0.6745:0.0:0.3255	.|.	.|.	.|.	.|.	.|N	-1|48	.|ENSP00000386275:S48N	.|ENSP00000386275:S48N	.|S	-|-	.|2	.|0	LSM5|LSM5	32495385|32495385	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.989000|0.989000	0.77384|0.77384	4.667000|4.667000	0.61561|0.61561	0.095000|0.095000	0.17434|0.17434	-0.126000|-0.126000	0.14955|0.14955	.|AGT		0.313	LSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215102.2		Intron
RP9	6100	broad.mit.edu	37	7	33136124	33136124	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:33136124G>A	ENST00000297157.3	-	5	465	c.448C>T	c.(448-450)Cga>Tga	p.R150*		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	150	PIM1-binding. {ECO:0000250}.				cognition (GO:0050890)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R150*(2)		large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			TTTTCATGTCGTTTATTGTCT	0.373																																					p.R150X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C448T	7						.						266.0	223.0	237.0					7																	33136124		2203	4300	6503	33102649	SO:0001587	stop_gained	6100	exon5			AX016710	CCDS5440.1	7p14.3	2014-01-28			ENSG00000164610	ENSG00000164610			10288	protein-coding gene	gene with protein product	"""Pim-1 kinase associated protein"""	607331				8513323	Standard	NM_203288		Approved	PAP-1	uc003tdm.3	Q8TA86	OTTHUMG00000152988	ENST00000297157.3:c.448C>T	7.37:g.33136124G>A	ENSP00000297157:p.Arg150*		33102649	NM_203288		Nonsense_Mutation	SNP	ENST00000297157.3	37	CCDS5440.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282275	0.80692	.	.	ENSG00000164610	ENST00000297157;ENST00000448915	.	.	.	3.66	0.932	0.19466	.	0.120359	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.8648	9.5843	0.39506	0.0:0.0:0.5931:0.4069	.	.	.	.	X	150;116	.	ENSP00000297157:R150X	R	-	1	2	RP9	33102649	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.989000	0.40707	0.535000	0.28714	-0.602000	0.04101	CGA		0.373	RP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328914.1	NM_203288	
ANLN	54443	broad.mit.edu	37	7	36438942	36438942	+	Frame_Shift_Del	DEL	A	A	-	rs376623794		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:36438942delA	ENST00000265748.2	+	3	648	c.427delA	c.(427-429)aaafs	p.K143fs	ANLN_ENST00000396068.2_Frame_Shift_Del_p.K143fs	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	143	Interaction with CD2AP.|Nuclear localization.				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.T144fs*18(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CTCCTCAGTTAAAACACGTAT	0.478																																					p.K143fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.427delA	7						.						63.0	58.0	60.0					7																	36438942		2203	4300	6503	36405467	SO:0001589	frameshift_variant	54443	exon3			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.427delA	7.37:g.36438942delA	ENSP00000265748:p.Lys143fs		36405467	NM_018685	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Frame_Shift_Del	DEL	ENST00000265748.2	37	CCDS5447.1																																																																																				0.478	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685	
GLI3	2737	broad.mit.edu	37	7	42088155	42088155	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:42088155C>T	ENST00000395925.3	-	5	698	c.614G>A	c.(613-615)cGc>cAc	p.R205H	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	205					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R205H(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GTGCAAGGAGCGGATATAGTC	0.547									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																												p.R205H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G614A	7						.						183.0	181.0	182.0					7																	42088155		2203	4300	6503	42054680	SO:0001583	missense	2737	exon5	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.614G>A	7.37:g.42088155C>T	ENSP00000379258:p.Arg205His		42054680	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951223	0.92660	.	.	ENSG00000106571	ENST00000395925	T	0.50001	0.76	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.70780	0.3263	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.72475	-0.4282	10	0.72032	D	0.01	.	19.8824	0.96903	0.0:1.0:0.0:0.0	.	205	P10071	GLI3_HUMAN	H	205	ENSP00000379258:R205H	ENSP00000379258:R205H	R	-	2	0	GLI3	42054680	1.000000	0.71417	0.966000	0.40874	0.608000	0.37181	7.809000	0.86057	2.785000	0.95823	0.591000	0.81541	CGC		0.547	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
HECW1	23072	broad.mit.edu	37	7	43547679	43547679	+	Missense_Mutation	SNP	G	G	A	rs367661051		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:43547679G>A	ENST00000395891.2	+	23	4420	c.3815G>A	c.(3814-3816)cGg>cAg	p.R1272Q	AC011738.4_ENST00000436105.1_RNA|HECW1_ENST00000453890.1_Missense_Mutation_p.R1238Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1272	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R1251Q(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCCTATTCGCGGAAAGAGCTC	0.542																																					p.R1272Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3815A	7						.						80.0	82.0	81.0					7																	43547679		1962	4152	6114	43514204	SO:0001583	missense	23072	exon23			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3815G>A	7.37:g.43547679G>A	ENSP00000379228:p.Arg1272Gln		43514204	NM_015052	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	36	5.933450	0.97116	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.42131	0.98;0.98	5.85	5.85	0.93711	HECT (3);	0.000000	0.85682	D	0.000000	T	0.64068	0.2565	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.80764	0.994;0.892	T	0.63646	-0.6590	10	0.72032	D	0.01	.	20.1669	0.98153	0.0:0.0:1.0:0.0	.	1238;1272	B4DH42;Q76N89	.;HECW1_HUMAN	Q	1272;1238;1272	ENSP00000379228:R1272Q;ENSP00000407774:R1238Q	ENSP00000265522:R1272Q	R	+	2	0	HECW1	43514204	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.779000	0.99018	2.770000	0.95276	0.650000	0.86243	CGG		0.542	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
ZMIZ2	83637	broad.mit.edu	37	7	44796659	44796659	+	Silent	SNP	G	G	A	rs200981133		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:44796659G>A	ENST00000309315.4	+	4	402	c.279G>A	c.(277-279)gcG>gcA	p.A93A	ZMIZ2_ENST00000265346.7_Silent_p.A93A|ZMIZ2_ENST00000441627.1_Silent_p.A93A|ZMIZ2_ENST00000433667.1_Silent_p.A61A|ZMIZ2_ENST00000413916.1_Silent_p.A61A	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	93	Gly-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.A93A(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GACAGCAGGCGTTTGCTGAAG	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		16642	0.0		0.001	False		,,,				2504	0.0				p.A93A	NSCLC(20;604 852 1948 16908 50522)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G279A	7						.	G	,	0,4032		0,0,2016	40.0	45.0	44.0		279,279	-9.8	0.1	7		44	1,8313		0,1,4156	no	coding-synonymous,coding-synonymous	ZMIZ2	NM_031449.3,NM_174929.2	,	0,1,6172	AA,AG,GG		0.012,0.0,0.0081	,	93/921,93/895	44796659	1,12345	2016	4157	6173	44763184	SO:0001819	synonymous_variant	83637	exon3			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.279G>A	7.37:g.44796659G>A			44763184	NM_174929	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	CCDS43576.1																																																																																				0.677	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449	
RAMP3	10268	broad.mit.edu	37	7	45222854	45222854	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:45222854A>G	ENST00000242249.4	+	3	328	c.290A>G	c.(289-291)cAc>cGc	p.H97R	RAMP3_ENST00000496212.1_Missense_Mutation_p.H97R|RAMP3_ENST00000481345.1_Missense_Mutation_p.H97R	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	97					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.H97R(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	ACCGGCATCCACAGGCAGTTC	0.587																																					p.H97R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A290G	7						.						84.0	84.0	84.0					7																	45222854		2203	4300	6503	45189379	SO:0001583	missense	10268	exon3			AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"""Receptor (G protein-coupled) activity modifying proteins"""	9845	protein-coding gene	gene with protein product		605155	"""receptor activity modifying protein 3"", ""receptor (calcitonin) activity modifying protein 3"""				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.290A>G	7.37:g.45222854A>G	ENSP00000242249:p.His97Arg		45189379	NM_005856	Q7Z2Y1	Missense_Mutation	SNP	ENST00000242249.4	37	CCDS5503.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.140804	0.56936	.	.	ENSG00000122679	ENST00000242249;ENST00000481345;ENST00000496212	T;T;T	0.62364	0.03;0.03;0.03	4.37	3.18	0.36537	.	0.054305	0.64402	D	0.000001	T	0.80188	0.4577	M	0.89840	3.065	0.52501	D	0.999953	D	0.89917	1.0	D	0.91635	0.999	T	0.80525	-0.1344	10	0.87932	D	0	-6.7119	9.2449	0.37520	0.8172:0.1828:0.0:0.0	.	97	O60896	RAMP3_HUMAN	R	97	ENSP00000242249:H97R;ENSP00000419012:H97R;ENSP00000418460:H97R	ENSP00000242249:H97R	H	+	2	0	RAMP3	45189379	1.000000	0.71417	0.997000	0.53966	0.610000	0.37248	7.979000	0.88103	0.512000	0.28257	-0.313000	0.08912	CAC		0.587	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856	
ABCA13	154664	broad.mit.edu	37	7	48312955	48312955	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:48312955T>C	ENST00000435803.1	+	17	3716	c.3692T>C	c.(3691-3693)cTc>cCc	p.L1231P		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1231					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L1176P(1)|p.L1231P(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCCTGGATCTCAGGGATTTT	0.383																																					p.S1177P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3529C	7						.						45.0	44.0	44.0					7																	48312955		1832	4076	5908	48283501	SO:0001583	missense	154664	exon15			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.3692T>C	7.37:g.48312955T>C	ENSP00000411096:p.Leu1231Pro		48283501	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.144421	0.57044	.	.	ENSG00000179869	ENST00000435803	D	0.92647	-3.08	5.24	5.24	0.73138	.	0.000000	0.36409	N	0.002601	D	0.94420	0.8205	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	D	0.62955	0.909	D	0.94035	0.7304	9	.	.	.	.	13.1582	0.59531	0.0:0.0:0.0:1.0	.	1231	Q86UQ4	ABCAD_HUMAN	P	1231	ENSP00000411096:L1231P	.	L	+	2	0	ABCA13	48283501	0.171000	0.23029	0.328000	0.25416	0.913000	0.54294	4.085000	0.57657	2.107000	0.64212	0.460000	0.39030	CTC		0.383	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
COBL	23242	broad.mit.edu	37	7	51203914	51203914	+	Missense_Mutation	SNP	G	G	A	rs372443929		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:51203914G>A	ENST00000265136.7	-	6	1063	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	COBL_ENST00000395542.2_Missense_Mutation_p.R325C|COBL_ENST00000441453.1_Missense_Mutation_p.R300C|COBL_ENST00000395540.2_Missense_Mutation_p.R300C	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	300					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)	p.R300C(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGGGCTCGGCGCTTCTTCATC	0.582																																					p.R300C	NSCLC(189;2119 2138 12223 30818 34679)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C898T	7						.	G	CYS/ARG	0,4406		0,0,2203	74.0	60.0	65.0		898	5.6	1.0	7		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	COBL	NM_015198.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	300/1262	51203914	1,13005	2203	4300	6503	51171408	SO:0001583	missense	23242	exon6			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.898C>T	7.37:g.51203914G>A	ENSP00000265136:p.Arg300Cys		51171408	NM_015198	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	CCDS34637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.694210|4.694210	0.88735|0.88735	0.0|0.0	1.16E-4|1.16E-4	ENSG00000106078|ENSG00000106078	ENST00000452534|ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542;ENST00000395540;ENST00000441453	.|T;T;T;T;T;T	.|0.52754	.|0.65;0.65;0.65;0.65;0.65;0.65	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Cordon-bleu domain (1);	.|0.000000	.|0.45361	.|D	.|0.000374	T|T	0.73466|0.73466	0.3590|0.3590	M|M	0.84585|0.84585	2.705|2.705	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.999;1.0;0.998;1.0;0.999	T|T	0.77148|0.77148	-0.2694|-0.2694	5|10	.|0.66056	.|D	.|0.02	.|.	18.4995|18.4995	0.90876|0.90876	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|300;300;300;300;325	.|O75128-3;O75128-5;O75128-7;O75128;O75128-2	.|.;.;.;COBL_HUMAN;.	V|C	218|300;192;128;325;300;300	.|ENSP00000265136:R300C;ENSP00000401204:R192C;ENSP00000413498:R128C;ENSP00000378912:R325C;ENSP00000378910:R300C;ENSP00000399500:R300C	.|ENSP00000265136:R300C	A|R	-|-	2|1	0|0	COBL|COBL	51171408|51171408	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.939000|0.939000	0.58152|0.58152	5.654000|5.654000	0.67974|0.67974	2.620000|2.620000	0.88729|0.88729	0.563000|0.563000	0.77884|0.77884	GCG|CGC		0.582	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198	
Unknown	0	broad.mit.edu	37	7	54269417	54269418	+	IGR	DEL	AC	AC	-	rs546907798		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	AC	AC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:54269417_54269418delAC								RP11-806J6.1 (253980 upstream) : RP11-436F9.1 (129053 downstream)																							acacaggcatacacacacacac	0.51																																					.												.	.	0			.	7						.																																			54236912	SO:0001628	intergenic_variant	3262	.																															7.37:g.54269427_54269428delAC			54236911	.		Frame_Shift_Del	DEL		37																																																																																				0	0.510								
CCT6A	908	broad.mit.edu	37	7	56126071	56126071	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:56126071delT	ENST00000275603.4	+	7	961	c.742delT	c.(742-744)tttfs	p.F249fs	SNORA15_ENST00000384439.1_RNA|SNORA22_ENST00000383876.1_RNA|CCT6A_ENST00000540286.1_Frame_Shift_Del_p.F218fs|CCT6A_ENST00000335503.3_Frame_Shift_Del_p.F204fs	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	249					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.Y250fs*11(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAATTCTGGCTTTTTTTACAA	0.313																																					p.F203fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.607delT	7						.						27.0	30.0	29.0					7																	56126071		2106	4251	6357	56093565	SO:0001589	frameshift_variant	908	exon6			M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.742delT	7.37:g.56126071delT	ENSP00000275603:p.Phe249fs		56093565	NM_001009186	A6NCD2|Q3KP28|Q75LP4|Q96S46	Frame_Shift_Del	DEL	ENST00000275603.4	37	CCDS5523.1																																																																																				0.313	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762	
AUTS2	26053	broad.mit.edu	37	7	69364442	69364442	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:69364442G>A	ENST00000342771.4	+	2	801	c.480G>A	c.(478-480)caG>caA	p.Q160Q	AUTS2_ENST00000403018.2_Silent_p.Q160Q|AUTS2_ENST00000406775.2_Silent_p.Q160Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	160								p.Q160Q(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ATCTCTGCCAGCACCTTGGGA	0.502																																					p.Q160Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G480A	7						.						99.0	98.0	98.0					7																	69364442		2203	4300	6503	69002378	SO:0001819	synonymous_variant	26053	exon2			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.480G>A	7.37:g.69364442G>A			69002378	NM_015570	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	CCDS5539.1																																																																																				0.502	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2		
FZD9	8326	broad.mit.edu	37	7	72849237	72849237	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:72849237G>A	ENST00000344575.3	+	1	1129	c.900G>A	c.(898-900)gcG>gcA	p.A300A		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	300					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A300A(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGGCGGGCGCGCTCTACGTGA	0.637																																					p.A300A	Pancreas(144;909 1878 36867 38226 39554)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G900A	7						.						103.0	93.0	96.0					7																	72849237		2202	4300	6502	72487173	SO:0001819	synonymous_variant	8326	exon1			U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.900G>A	7.37:g.72849237G>A			72487173	NM_003508		Silent	SNP	ENST00000344575.3	37	CCDS5548.1																																																																																				0.637	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1		
HSPB1	3315	broad.mit.edu	37	7	75933373	75933373	+	Silent	SNP	C	C	A	rs529095936		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:75933373C>A	ENST00000248553.6	+	3	670	c.501C>A	c.(499-501)gcC>gcA	p.A167A	HSPB1_ENST00000429938.1_5'UTR	NM_001540.3	NP_001531.1	P04792	HSPB1_HUMAN	heat shock 27kDa protein 1	167	Interaction with TGFB1I1. {ECO:0000250}.				cell death (GO:0008219)|cellular component movement (GO:0006928)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of protein kinase activity (GO:0006469)|platelet aggregation (GO:0070527)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of translational initiation (GO:0006446)|response to unfolded protein (GO:0006986)|response to virus (GO:0009615)|retina homeostasis (GO:0001895)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)|ubiquitin binding (GO:0043130)	p.A167A(1)		large_intestine(1)|lung(3)	4						CCGTGGAGGCCCCCATGCCCA	0.647																																					p.A167A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C501A	7						.						26.0	24.0	25.0					7																	75933373		2202	4297	6499	75771309	SO:0001819	synonymous_variant	3315	exon3			X54079	CCDS5583.1	7q11.23	2014-09-17	2002-08-29		ENSG00000106211	ENSG00000106211		"""Heat shock proteins / HSPB"""	5246	protein-coding gene	gene with protein product		602195	"""heat shock 27kD protein 1"""			2243808, 9344682	Standard	NM_001540		Approved	HSP27, HSP28, Hs.76067, Hsp25	uc003uew.3	P04792	OTTHUMG00000023228	ENST00000248553.6:c.501C>A	7.37:g.75933373C>A			75771309	NM_001540	B2R4N8|Q6FI47|Q96C20|Q96EI7|Q9UC31|Q9UC34|Q9UC35|Q9UC36	Silent	SNP	ENST00000248553.6	37	CCDS5583.1																																																																																				0.647	HSPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252958.1		
PTPN12	5782	broad.mit.edu	37	7	77265143	77265143	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:77265143C>T	ENST00000248594.6	+	15	2391	c.2119C>T	c.(2119-2121)Cga>Tga	p.R707*	PTPN12_ENST00000415482.2_Nonsense_Mutation_p.R588*|PTPN12_ENST00000435495.2_Nonsense_Mutation_p.R577*	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	707					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)	p.R707*(1)		breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AAGTCAGGAACGATCTGAACA	0.318																																					p.R577X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1729T	7						.						58.0	56.0	57.0					7																	77265143		2203	4298	6501	77103079	SO:0001587	stop_gained	5782	exon14				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.2119C>T	7.37:g.77265143C>T	ENSP00000248594:p.Arg707*		77103079	NM_001131009	A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Nonsense_Mutation	SNP	ENST00000248594.6	37	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	C	36	5.902185	0.97087	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000435495;ENST00000407343	.	.	.	5.04	-0.736	0.11133	.	1.156480	0.06129	N	0.670310	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	4.6712	0.12691	0.0:0.416:0.1548:0.4292	.	.	.	.	X	707;588;577;189	.	ENSP00000248594:R707X	R	+	1	2	PTPN12	77103079	0.004000	0.15560	0.032000	0.17829	0.302000	0.27658	0.041000	0.13927	-0.103000	0.12175	-0.150000	0.13652	CGA		0.318	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3		
SEMA3A	10371	broad.mit.edu	37	7	83610681	83610681	+	Silent	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:83610681A>G	ENST00000265362.4	-	14	1922	c.1608T>C	c.(1606-1608)gcT>gcC	p.A536A	SEMA3A_ENST00000436949.1_Silent_p.A536A	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	536					apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.A536A(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AACCATCCCAAGCACAGTAAG	0.463																																					p.A536A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1608C	7						.						74.0	67.0	70.0					7																	83610681		2203	4300	6503	83448617	SO:0001819	synonymous_variant	10371	exon14			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1608T>C	7.37:g.83610681A>G			83448617	NM_006080		Silent	SNP	ENST00000265362.4	37	CCDS5599.1																																																																																				0.463	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080	
ABCB4	5244	broad.mit.edu	37	7	87047908	87047908	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:87047908delT	ENST00000265723.4	-	20	2534	c.2423delA	c.(2422-2424)aacfs	p.N808fs	ABCB4_ENST00000359206.3_Frame_Shift_Del_p.N808fs|ABCB4_ENST00000545634.1_Frame_Shift_Del_p.N808fs|ABCB4_ENST00000453593.1_Frame_Shift_Del_p.N808fs|ABCB4_ENST00000358400.3_Frame_Shift_Del_p.N808fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	808	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.N808fs*27(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ACCAGTACTGTTTTTATGGTC	0.393																																					p.N808fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2423delA	7						.						133.0	108.0	116.0					7																	87047908		2203	4300	6503	86885844	SO:0001589	frameshift_variant	5244	exon20			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2423delA	7.37:g.87047908delT	ENSP00000265723:p.Asn808fs		86885844	NM_018849	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Frame_Shift_Del	DEL	ENST00000265723.4	37	CCDS5606.1																																																																																				0.393	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	
DLX6	1750	broad.mit.edu	37	7	96639245	96639245	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:96639245C>T	ENST00000518156.2	+	3	1198	c.768C>T	c.(766-768)gaC>gaT	p.D256D	DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000007660.5_Silent_p.D228D|DLX6-AS2_ENST00000606174.1_RNA|DLX6_ENST00000555308.1_Silent_p.D128D|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000452769.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	138					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D228D(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CAGTCTGGGACGTTTCTGCCT	0.617																																					p.D256D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C768T	7						.						35.0	37.0	36.0					7																	96639245		2184	4283	6467	96477181	SO:0001819	synonymous_variant	1750	exon3				CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.768C>T	7.37:g.96639245C>T			96477181	NM_005222	A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Silent	SNP	ENST00000518156.2	37	CCDS47647.2																																																																																				0.617	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222	
TRRAP	8295	broad.mit.edu	37	7	98530921	98530921	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:98530921G>A	ENST00000359863.4	+	27	4119	c.3910G>A	c.(3910-3912)Gca>Aca	p.A1304T	TRRAP_ENST00000355540.3_Missense_Mutation_p.A1304T|TRRAP_ENST00000446306.3_Missense_Mutation_p.A1303T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1304					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.A1304T(2)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCCTGCCAACGCACAGATTGG	0.582																																					p.A1304T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3910A	7						.						114.0	85.0	95.0					7																	98530921		2203	4300	6503	98368857	SO:0001583	missense	8295	exon27			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.3910G>A	7.37:g.98530921G>A	ENSP00000352925:p.Ala1304Thr		98368857	NM_003496	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399382	0.42512	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.02863	4.14;4.13	6.07	5.19	0.71726	Armadillo-type fold (1);	0.050538	0.85682	N	0.000000	T	0.03220	0.0094	L	0.51422	1.61	0.80722	D	1	P;B;P	0.47545	0.897;0.339;0.559	B;B;B	0.32864	0.154;0.036;0.06	T	0.59857	-0.7375	10	0.23302	T	0.38	.	15.3037	0.73976	0.0668:0.0:0.9332:0.0	.	1304;1018;1304	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	T	1304;1304;1302	ENSP00000352925:A1304T;ENSP00000347733:A1304T	ENSP00000347733:A1304T	A	+	1	0	TRRAP	98368857	1.000000	0.71417	0.083000	0.20561	0.309000	0.27889	9.439000	0.97543	1.571000	0.49722	0.655000	0.94253	GCA		0.582	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
ARPC1B	10095	broad.mit.edu	37	7	98985724	98985724	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:98985724G>A	ENST00000451682.1	+	6	541	c.232G>A	c.(232-234)Gtg>Atg	p.V78M	ARPC1B_ENST00000252725.5_Missense_Mutation_p.V78M|ARPC1A_ENST00000432884.2_3'UTR|ARPC1B_ENST00000474880.1_3'UTR			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	78					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)	p.V78M(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CAACGCCTACGTGTGGACGCT	0.642																																					p.V78M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G232A	7						.						71.0	70.0	70.0					7																	98985724		2203	4300	6503	98823660	SO:0001583	missense	10095	exon4			AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	704	protein-coding gene	gene with protein product	"""ARP2/3 protein complex subunit p41"", ""actin related protein 2/3 complex, subunit 1A (41 kD)"""	604223	"""actin related protein 2/3 complex, subunit 1B (41 kD)"""			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.232G>A	7.37:g.98985724G>A	ENSP00000389631:p.Val78Met		98823660	NM_005720	Q9BU00	Missense_Mutation	SNP	ENST00000451682.1	37	CCDS5661.1	.	.	.	.	.	.	.	.	.	.	g	33	5.210685	0.95069	.	.	ENSG00000130429	ENST00000443222;ENST00000414376;ENST00000252725;ENST00000455009;ENST00000418347;ENST00000417330;ENST00000431816;ENST00000427217;ENST00000458033;ENST00000451682	T;T;T;T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81856	0.4911	M	0.92169	3.28	0.80722	D	1	D;D	0.59357	0.985;0.985	P;P	0.56398	0.797;0.797	D	0.86396	0.1739	10	0.87932	D	0	-21.8397	19.1065	0.93299	0.0:0.0:1.0:0.0	.	78;78	A4D275;O15143	.;ARC1B_HUMAN	M	78	ENSP00000413173:V78M;ENSP00000398620:V78M;ENSP00000252725:V78M;ENSP00000410238:V78M;ENSP00000413067:V78M;ENSP00000403324:V78M;ENSP00000398110:V78M;ENSP00000403211:V78M;ENSP00000388802:V78M;ENSP00000389631:V78M	ENSP00000252725:V78M	V	+	1	0	ARPC1B	98823660	1.000000	0.71417	0.956000	0.39512	0.921000	0.55340	9.839000	0.99476	2.690000	0.91761	0.555000	0.69702	GTG		0.642	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1	NM_005720	
PTCD1	26024	broad.mit.edu	37	7	99027400	99027400	+	Silent	SNP	G	G	A	rs554313112		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:99027400G>A	ENST00000292478.4	-	4	874	c.624C>T	c.(622-624)gaC>gaT	p.D208D	PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_Silent_p.D257D|PTCD1_ENST00000555673.1_Silent_p.D257D	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	208					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.D208D(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TGTAGGTGGCGTCCGAGGGCT	0.627																																					p.D208D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C624T	7						.						70.0	63.0	66.0					7																	99027400		2203	4300	6503	98865336	SO:0001819	synonymous_variant	26024	exon4			AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.624C>T	7.37:g.99027400G>A			98865336	NM_015545	Q3ZB78|Q66K60|Q9UDV2	Silent	SNP	ENST00000292478.4	37	CCDS34691.1																																																																																				0.627	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545	
LAMTOR4	389541	broad.mit.edu	37	7	99751503	99751504	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	AC	AC	AC	-	AC	AC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:99751503_99751504delAC	ENST00000341942.5	+	4	282_283	c.216_217delAC	c.(214-219)gaacacfs	p.H73fs	LAMTOR4_ENST00000441173.1_3'UTR|MIR4658_ENST00000584344.1_RNA|LAMTOR4_ENST00000468582.1_3'UTR|C7orf43_ENST00000498638.1_5'Flank	NM_001008395.2	NP_001008396.1	Q0VGL1	LTOR4_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 4	73					cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)		p.L75fs*23(1)									TCTTTGGAGAACACACACTGCT	0.619																																					p.72_73del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.216_217del	7						.																																			99589440	SO:0001589	frameshift_variant	389541	exon4				CCDS34702.1	7q22	2012-09-24	2012-09-24	2012-09-24	ENSG00000188186	ENSG00000188186			33772	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 59"""	C7orf59		22980980	Standard	NM_001008395		Approved		uc003utq.2	Q0VGL1	OTTHUMG00000154854	ENST00000341942.5:c.216_217delAC	7.37:g.99751509_99751510delAC	ENSP00000343118:p.His73fs		99589439	NM_001008395		Frame_Shift_Del	DEL	ENST00000341942.5	37	CCDS34702.1																																																																																				0.619	LAMTOR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337373.2	NM_001008395	
STAG3	10734	broad.mit.edu	37	7	99797919	99797919	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:99797919C>A	ENST00000426455.1	+	17	2145	c.1738C>A	c.(1738-1740)Ctc>Atc	p.L580I	STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.L580I|STAG3_ENST00000394018.2_Missense_Mutation_p.L522I|GATS_ENST00000543273.1_RNA	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	580					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.L580I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GACTGAGCACCTCATCCCCCT	0.587																																					p.L580I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1738A	7						.						69.0	58.0	62.0					7																	99797919		2203	4300	6503	99635855	SO:0001583	missense	10734	exon17			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.1738C>A	7.37:g.99797919C>A	ENSP00000400359:p.Leu580Ile		99635855	NM_012447	A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	32	5.172425	0.94807	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000317296	T;T;T	0.27890	1.64;1.65;1.64	5.3	5.3	0.74995	Armadillo-like helical (1);Armadillo-type fold (1);	0.146145	0.31922	N	0.006845	T	0.36248	0.0960	L	0.53561	1.675	0.42052	D	0.991126	P;P	0.50710	0.882;0.938	P;P	0.48952	0.54;0.596	T	0.14615	-1.0466	10	0.72032	D	0.01	-15.8981	9.7935	0.40720	0.0:0.9092:0.0:0.0908	.	522;580	B4DZ10;Q9UJ98	.;STAG3_HUMAN	I	580;522;538;580	ENSP00000400359:L580I;ENSP00000377586:L522I;ENSP00000319318:L580I	ENSP00000319318:L580I	L	+	1	0	STAG3	99635855	0.981000	0.34729	1.000000	0.80357	0.996000	0.88848	2.188000	0.42612	2.757000	0.94681	0.655000	0.94253	CTC		0.587	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447	
PTPRN2	5799	broad.mit.edu	37	7	157985072	157985072	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr7:157985072C>T	ENST00000389418.4	-	5	505	c.496G>A	c.(496-498)Gcc>Acc	p.A166T	PTPRN2_ENST00000404321.2_Missense_Mutation_p.A189T|PTPRN2_ENST00000389416.4_Missense_Mutation_p.A149T|PTPRN2_ENST00000389413.3_Missense_Mutation_p.A166T|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A128T	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	166					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A166T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACGTCTGAGGCTGGGGCCTGG	0.697																																					p.A166T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G496A	7						.						41.0	48.0	46.0					7																	157985072		2203	4300	6503	157677833	SO:0001583	missense	5799	exon5			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.496G>A	7.37:g.157985072C>T	ENSP00000374069:p.Ala166Thr		157677833	NM_130843	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	1.188	-0.636289	0.03557	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.02737	4.18;4.2;4.19;4.19;4.18	4.17	1.23	0.21249	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.19331	0.035;0.02;0.035;0.02;0.02	B;B;B;B;B	0.16289	0.015;0.007;0.015;0.007;0.007	T	0.49214	-0.8963	9	0.25106	T	0.35	.	3.627	0.08117	0.1961:0.5779:0.0:0.226	.	189;128;166;149;166	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	T	128;166;149;166;189	ENSP00000387114:A128T;ENSP00000374064:A166T;ENSP00000374067:A149T;ENSP00000374069:A166T;ENSP00000385464:A189T	ENSP00000374064:A166T	A	-	1	0	PTPRN2	157677833	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.151000	0.10175	0.107000	0.17824	0.591000	0.81541	GCC		0.697	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1		
VPS13B	157680	broad.mit.edu	37	8	100832166	100832166	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:100832166A>G	ENST00000358544.2	+	49	8996	c.8885A>G	c.(8884-8886)cAg>cGg	p.Q2962R	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q2937R	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2962					protein transport (GO:0015031)			p.Q2962R(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGCTAAGTCAGTGGGATAGC	0.388																																					p.Q2937R	Colon(161;2205 2542 7338 31318)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A8810G	8						.						133.0	124.0	127.0					8																	100832166		2203	4300	6503	100901342	SO:0001583	missense	157680	exon49			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8885A>G	8.37:g.100832166A>G	ENSP00000351346:p.Gln2962Arg		100901342	NM_152564	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.251610	0.80135	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.72051	-0.62;-0.62	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.76955	0.4060	L	0.32530	0.975	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.70227	0.955;0.968	T	0.76340	-0.2995	10	0.40728	T	0.16	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	2937;2962	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	R	2937;2962	ENSP00000349685:Q2937R;ENSP00000351346:Q2962R	ENSP00000349685:Q2937R	Q	+	2	0	VPS13B	100901342	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	CAG		0.388	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
YWHAZ	7534	broad.mit.edu	37	8	101936216	101936216	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:101936216C>T	ENST00000395957.2	-	6	986	c.645G>A	c.(643-645)acG>acA	p.T215T	YWHAZ_ENST00000457309.1_Silent_p.T215T|YWHAZ_ENST00000395951.3_Silent_p.T215T|YWHAZ_ENST00000395958.2_Silent_p.T215T|YWHAZ_ENST00000395956.3_Silent_p.T215T|YWHAZ_ENST00000521309.1_Silent_p.T95T|YWHAZ_ENST00000353245.3_Silent_p.T215T|YWHAZ_ENST00000419477.2_Silent_p.T215T|YWHAZ_ENST00000522542.1_Silent_p.T140T|YWHAZ_ENST00000395953.2_Silent_p.T215T|YWHAZ_ENST00000395948.2_Silent_p.T138T|YWHAZ_ENST00000522819.1_Silent_p.T95T			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta	215					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|gene expression (GO:0010467)|histamine secretion by mast cell (GO:0002553)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting to mitochondrion (GO:0006626)|response to drug (GO:0042493)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mast cell granule (GO:0042629)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)	p.T215T(1)		large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)			GCATTATTAGCGTGCTGTCTT	0.348																																					p.T215T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G645A	8						.						159.0	156.0	157.0					8																	101936216		2203	4299	6502	102005392	SO:0001819	synonymous_variant	7534	exon5			U28964	CCDS6290.1	8q22.3	2013-12-03	2013-12-03		ENSG00000164924	ENSG00000164924			12855	protein-coding gene	gene with protein product	"""14-3-3 zeta"", ""14-3-3 delta"""	601288	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide"""	YWHAD		8617504, 7890696	Standard	NM_003406		Approved	KCIP-1, 14-3-3-zeta	uc010mbr.2	P63104	OTTHUMG00000134291	ENST00000395957.2:c.645G>A	8.37:g.101936216C>T			102005392	NM_001135699	A8K1N0|B7Z465|P29213|P29312|Q32P43|Q5XJ08|Q6GPI2|Q6IN74|Q6NUR9|Q6P3U9|Q86V33	Silent	SNP	ENST00000395957.2	37	CCDS6290.1																																																																																				0.348	YWHAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259017.2	NM_145690	
GRHL2	79977	broad.mit.edu	37	8	102585914	102585914	+	Silent	SNP	C	C	A	rs567898885		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:102585914C>A	ENST00000251808.3	+	6	1091	c.753C>A	c.(751-753)acC>acA	p.T251T	GRHL2_ENST00000395927.1_Silent_p.T235T	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	251					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T251T(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TTCAGTACACCCTGGAAGCCA	0.488																																					p.T251T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C753A	8						.						63.0	57.0	59.0					8																	102585914		2203	4300	6503	102655090	SO:0001819	synonymous_variant	79977	exon6			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.753C>A	8.37:g.102585914C>A			102655090	NM_024915	A1L303|Q6NT03|Q9H8B8	Silent	SNP	ENST00000251808.3	37	CCDS34931.1																																																																																				0.488	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915	
KLF10	7071	broad.mit.edu	37	8	103663384	103663384	+	Silent	SNP	C	C	T	rs190177424	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:103663384C>T	ENST00000285407.6	-	3	1476	c.1176G>A	c.(1174-1176)acG>acA	p.T392T	KLF10_ENST00000395884.3_Silent_p.T381T	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	392					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T392T(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TACCTGTGTGCGTCCTCGTGT	0.428																																					p.T381T	Esophageal Squamous(16;495 519 2144 16528 44005)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1143A	8						.						105.0	109.0	108.0					8																	103663384		2203	4300	6503	103732560	SO:0001819	synonymous_variant	7071	exon3			U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.1176G>A	8.37:g.103663384C>T			103732560	NM_001032282	A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Silent	SNP	ENST00000285407.6	37	CCDS6294.1																																																																																				0.428	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1		
CSMD3	114788	broad.mit.edu	37	8	113933906	113933906	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:113933906C>T	ENST00000297405.5	-	10	1827	c.1583G>A	c.(1582-1584)cGg>cAg	p.R528Q	CSMD3_ENST00000455883.2_Missense_Mutation_p.R424Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R488Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R528Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	528	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R528Q(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCAGCTATCCGTTGACAGGT	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.R528Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1583A	8						.						115.0	108.0	110.0					8																	113933906		2203	4300	6503	114003082	SO:0001583	missense	114788	exon10			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1583G>A	8.37:g.113933906C>T	ENSP00000297405:p.Arg528Gln		114003082	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935565	0.92458	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.48	5.48	0.80851	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000007	T	0.73171	0.3553	L	0.46947	1.48	0.30073	N	0.8099	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.87578	0.952;0.998;0.961	T	0.66436	-0.5924	10	0.15066	T	0.55	.	19.3415	0.94344	0.0:1.0:0.0:0.0	.	424;528;488	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	488;528;424;528	ENSP00000345799:R488Q;ENSP00000297405:R528Q;ENSP00000412263:R424Q;ENSP00000343124:R528Q	ENSP00000297405:R528Q	R	-	2	0	CSMD3	114003082	1.000000	0.71417	0.963000	0.40424	0.988000	0.76386	6.089000	0.71384	2.576000	0.86940	0.655000	0.94253	CGG		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CTSB	1508	broad.mit.edu	37	8	11705328	11705328	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:11705328C>T	ENST00000353047.6	-	7	789	c.536G>A	c.(535-537)tGc>tAc	p.C179Y	CTSB_ENST00000345125.3_Missense_Mutation_p.C179Y|CTSB_ENST00000531089.1_Missense_Mutation_p.C179Y|CTSB_ENST00000530640.2_Missense_Mutation_p.C179Y|CTSB_ENST00000533455.1_Missense_Mutation_p.C179Y|CTSB_ENST00000534510.1_Missense_Mutation_p.C179Y|CTSB_ENST00000453527.2_Missense_Mutation_p.C179Y|CTSB_ENST00000525076.1_5'Flank|RP11-589N15.2_ENST00000602711.1_RNA|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000434271.1_Missense_Mutation_p.C179Y	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	179					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)	p.C179Y(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		GTACGGTCTGCACCCTGATGG	0.642																																					p.C179Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G536A	8						.						62.0	62.0	62.0					8																	11705328		2203	4300	6503	11742737	SO:0001583	missense	1508	exon8			M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"""Cathepsins"""	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.536G>A	8.37:g.11705328C>T	ENSP00000345672:p.Cys179Tyr		11742737	NM_147781	B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	ENST00000353047.6	37	CCDS5986.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254849	0.59212	.	.	ENSG00000164733	ENST00000434271;ENST00000540571;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000541328	D;D;D;D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92	4.18	4.18	0.49190	Peptidase C1A, papain C-terminal (2);	0.185306	0.64402	D	0.000012	D	0.95069	0.8403	H	0.97365	3.99	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;0.998;1.0	D	0.96947	0.9692	10	0.87932	D	0	.	15.6722	0.77286	0.0:1.0:0.0:0.0	.	116;179;85;179;116	B3KUJ8;A8K2H4;B4DMY4;P07858;F5H2P9	.;.;.;CATB_HUMAN;.	Y	179;116;179;179;179;179;179;179;179;85	ENSP00000415889:C179Y;ENSP00000345672:C179Y;ENSP00000435105:C179Y;ENSP00000433215:C179Y;ENSP00000409917:C179Y;ENSP00000342070:C179Y;ENSP00000432244:C179Y;ENSP00000434217:C179Y	ENSP00000342070:C179Y	C	-	2	0	CTSB	11742737	1.000000	0.71417	0.966000	0.40874	0.218000	0.24690	7.231000	0.78106	2.129000	0.65627	0.561000	0.74099	TGC		0.642	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	NM_147780	
TRPS1	7227	broad.mit.edu	37	8	116430587	116430587	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:116430587C>T	ENST00000220888.5	-	5	2914	c.2755G>A	c.(2755-2757)Gcg>Acg	p.A919T	TRPS1_ENST00000519076.1_Missense_Mutation_p.A673T|TRPS1_ENST00000520276.1_Missense_Mutation_p.A923T|TRPS1_ENST00000395715.3_Missense_Mutation_p.A932T			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	919			A -> T (in TRPS3). {ECO:0000269|PubMed:11112658}.		chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A919T(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGGCCACACGCGTTGCATACA	0.483									Langer-Giedion syndrome																												p.A932T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2794A	8	GRCh37	CM010488	TRPS1	M		.						134.0	135.0	135.0					8																	116430587		1983	4173	6156	116499763	SO:0001583	missense	7227	exon6	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2755G>A	8.37:g.116430587C>T	ENSP00000220888:p.Ala919Thr		116499763	NM_014112	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.471203|4.471203	0.84533|0.84533	.|.	.|.	ENSG00000104447|ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276|ENST00000518018	D;D;D;D|.	0.99784|.	-6.74;-6.74;-6.74;-6.74|.	5.81|5.81	5.81|5.81	0.92471|0.92471	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91509|0.91509	0.7319|0.7319	H|H	0.98918|0.98918	4.37|4.37	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.998;0.999;0.998|.	D|D	0.94367|0.94367	0.7592|0.7592	10|5	0.87932|.	D|.	0|.	.|.	20.0805|20.0805	0.97772|0.97772	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	923;919;932|.	Q9UHF7-3;Q9UHF7;Q9UHF7-2|.	.;TRPS1_HUMAN;.|.	T|H	932;919;673;923|43	ENSP00000379065:A932T;ENSP00000220888:A919T;ENSP00000428910:A673T;ENSP00000428680:A923T|.	ENSP00000220888:A919T|.	A|R	-|-	1|2	0|0	TRPS1|TRPS1	116499763|116499763	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.755000|2.755000	0.94549|0.94549	0.650000|0.650000	0.86243|0.86243	GCG|CGC		0.483	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
SLC30A8	169026	broad.mit.edu	37	8	118159312	118159312	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:118159312C>T	ENST00000456015.2	+	2	191	c.191C>T	c.(190-192)gCg>gTg	p.A64V	SLC30A8_ENST00000521243.1_Missense_Mutation_p.A15V|SLC30A8_ENST00000519688.1_Missense_Mutation_p.A15V|SLC30A8_ENST00000427715.2_Missense_Mutation_p.A15V	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	64					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.A64V(2)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GAAAAGGGGGCGAATGAGTAC	0.512																																					p.A64V	Ovarian(162;1202 1922 6011 16223 52092)											.	.	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)	c.C191T	8						.						169.0	144.0	153.0					8																	118159312		2203	4300	6503	118228493	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.191C>T	8.37:g.118159312C>T	ENSP00000415011:p.Ala64Val		118228493	NM_173851	A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	C	2.756	-0.259000	0.05791	.	.	ENSG00000164756	ENST00000521243;ENST00000524274;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.64438	-0.07;-0.07;-0.07;-0.1	5.65	-0.694	0.11294	.	0.609631	0.17570	N	0.169493	T	0.35885	0.0947	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.07693	-1.0759	10	0.30854	T	0.27	-0.1076	1.773	0.03016	0.2789:0.4052:0.1021:0.2138	.	64	Q8IWU4	ZNT8_HUMAN	V	15;15;15;15;64	ENSP00000428545:A15V;ENSP00000407505:A15V;ENSP00000431069:A15V;ENSP00000415011:A64V	ENSP00000407505:A15V	A	+	2	0	SLC30A8	118228493	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.241000	0.18065	0.136000	0.18733	-0.169000	0.13324	GCG		0.512	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851	
ZHX2	22882	broad.mit.edu	37	8	123965152	123965152	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:123965152G>A	ENST00000314393.4	+	3	2237	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	468	Required for interaction with NFYA.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E468K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TGACGATGCCGAGGTTTACCG	0.567																																					p.E468K	Esophageal Squamous(94;1056 1388 11767 13799 49639)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1402A	8						.						96.0	100.0	99.0					8																	123965152		2203	4300	6503	124034333	SO:0001583	missense	22882	exon3			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1402G>A	8.37:g.123965152G>A	ENSP00000314709:p.Glu468Lys		124034333	NM_014943		Missense_Mutation	SNP	ENST00000314393.4	37	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527441	0.85706	.	.	ENSG00000178764	ENST00000314393	D	0.93189	-3.18	5.94	5.94	0.96194	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.102836	0.64402	D	0.000004	D	0.96237	0.8773	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95975	0.8973	10	0.72032	D	0.01	-23.4284	20.3632	0.98871	0.0:0.0:1.0:0.0	.	468	Q9Y6X8	ZHX2_HUMAN	K	468	ENSP00000314709:E468K	ENSP00000314709:E468K	E	+	1	0	ZHX2	124034333	1.000000	0.71417	0.968000	0.41197	0.778000	0.44026	9.476000	0.97823	2.826000	0.97356	0.561000	0.74099	GAG		0.567	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943	
DLC1	10395	broad.mit.edu	37	8	12958130	12958130	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:12958130C>T	ENST00000276297.4	-	9	2125	c.1716G>A	c.(1714-1716)ccG>ccA	p.P572P	DLC1_ENST00000520226.1_Silent_p.P61P|DLC1_ENST00000512044.2_Silent_p.P169P|DLC1_ENST00000358919.2_Silent_p.P135P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	572					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.P572P(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGCCGTCCTTCGGGTGGGAGT	0.632																																					p.P572P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1716A	8						.						33.0	38.0	37.0					8																	12958130		2202	4300	6502	13002501	SO:0001819	synonymous_variant	10395	exon9			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1716G>A	8.37:g.12958130C>T			13002501	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	1.250	-0.618955	0.03663	.	.	ENSG00000164741	ENST00000503161	.	.	.	5.22	1.25	0.21368	.	.	.	.	.	T	0.38506	0.1043	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.36480	-0.9746	5	0.87932	D	0	.	4.7386	0.13001	0.1024:0.5848:0.11:0.2028	.	.	.	.	Q	44	.	ENSP00000429537:R44Q	R	-	2	0	DLC1	13002501	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-0.381000	0.07417	0.462000	0.27095	-0.880000	0.02959	CGA		0.632	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
ATAD2	29028	broad.mit.edu	37	8	124359474	124359474	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:124359474G>A	ENST00000287394.5	-	16	2177	c.2070C>T	c.(2068-2070)tcC>tcT	p.S690S	MIR548AA1_ENST00000384971.2_RNA|ATAD2_ENST00000521903.1_Silent_p.S8S	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	690					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S690S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAGCTCTTTGGGAGGCTGGTA	0.448																																					p.S690S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2070T	8						.						123.0	120.0	121.0					8																	124359474		2203	4300	6503	124428655	SO:0001819	synonymous_variant	29028	exon16			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2070C>T	8.37:g.124359474G>A			124428655	NM_014109	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Silent	SNP	ENST00000287394.5	37	CCDS6343.1																																																																																				0.448	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109	
TG	7038	broad.mit.edu	37	8	133883698	133883698	+	Missense_Mutation	SNP	C	C	T	rs200217990		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:133883698C>T	ENST00000220616.4	+	4	420	c.380C>T	c.(379-381)gCg>gTg	p.A127V	TG_ENST00000377869.1_Missense_Mutation_p.A127V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	127	Thyroglobulin type-1 2. {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.A127V(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)		GGGGACTACGCGCCTGTTCAG	0.552																																					p.A127V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C380T	8						.						194.0	152.0	166.0					8																	133883698		2203	4300	6503	133952880	SO:0001583	missense	7038	exon4			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.380C>T	8.37:g.133883698C>T	ENSP00000220616:p.Ala127Val		133952880	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	7.384	0.629311	0.14257	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.64260	-0.09;-0.09	5.58	-0.26	0.12967	Thyroglobulin type-1 (6);	0.925716	0.09124	N	0.845380	T	0.52917	0.1764	L	0.52011	1.625	0.09310	N	1	B	0.33318	0.408	B	0.31390	0.129	T	0.45512	-0.9256	10	0.54805	T	0.06	.	8.8083	0.34952	0.6592:0.26:0.0:0.0808	.	127	P01266	THYG_HUMAN	V	127	ENSP00000367100:A127V;ENSP00000220616:A127V	ENSP00000220616:A127V	A	+	2	0	TG	133952880	0.001000	0.12720	0.000000	0.03702	0.022000	0.10575	0.974000	0.29436	0.021000	0.15133	-0.368000	0.07277	GCG		0.552	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
PLEC	5339	broad.mit.edu	37	8	145009242	145009242	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:145009242G>A	ENST00000322810.4	-	8	1342	c.1173C>T	c.(1171-1173)taC>taT	p.Y391Y	PLEC_ENST00000354589.3_Silent_p.Y254Y|PLEC_ENST00000436759.2_Silent_p.Y281Y|PLEC_ENST00000354958.2_Silent_p.Y232Y|PLEC_ENST00000398774.2_Silent_p.Y222Y|PLEC_ENST00000345136.3_Silent_p.Y254Y|PLEC_ENST00000357649.2_Silent_p.Y258Y|PLEC_ENST00000527096.1_Silent_p.Y281Y|PLEC_ENST00000356346.3_Silent_p.Y240Y	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	391	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.Y281Y(1)|p.Y391Y(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGACGAGACGTAGGTGATGA	0.682																																					p.Y258Y												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C774T	8						.						86.0	98.0	94.0					8																	145009242		2164	4245	6409	145081230	SO:0001819	synonymous_variant	5339	exon8			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1173C>T	8.37:g.145009242G>A			145081230	NM_201383	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																				0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
CPSF1	29894	broad.mit.edu	37	8	145621616	145621616	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:145621616C>T	ENST00000349769.3	-	26	3020	c.2926G>A	c.(2926-2928)Gct>Act	p.A976T	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	976					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.A976T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGGAATGGAGCGAAAGAGTCG	0.652																																					p.A976T	NSCLC(133;1088 1848 27708 34777 35269)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2926A	8						.						21.0	20.0	21.0					8																	145621616		2194	4295	6489	145592424	SO:0001583	missense	29894	exon26			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.2926G>A	8.37:g.145621616C>T	ENSP00000339353:p.Ala976Thr		145592424	NM_013291	Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623722	0.28889	.	.	ENSG00000071894	ENST00000349769	T	0.76709	-1.04	5.09	5.09	0.68999	.	0.070934	0.64402	D	0.000018	T	0.61825	0.2378	N	0.20530	0.585	0.46701	D	0.999169	B	0.33549	0.417	B	0.29716	0.106	T	0.60682	-0.7215	10	0.18276	T	0.48	-13.1078	14.0027	0.64444	0.0:1.0:0.0:0.0	.	976	Q10570	CPSF1_HUMAN	T	976	ENSP00000339353:A976T	ENSP00000339353:A976T	A	-	1	0	CPSF1	145592424	1.000000	0.71417	0.994000	0.49952	0.067000	0.16453	5.157000	0.64911	2.363000	0.80096	0.455000	0.32223	GCT		0.652	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291	
DLGAP2	9228	broad.mit.edu	37	8	1497660	1497660	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:1497660C>T	ENST00000421627.2	+	2	935	c.801C>T	c.(799-801)aaC>aaT	p.N267N		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	346					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.N289N(2)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGAGCAACAACGACGTCAAGT	0.667																																					p.N267N												.	.	2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	c.C801T	8						.						45.0	51.0	49.0					8																	1497660		2136	4263	6399	1485067	SO:0001819	synonymous_variant	9228	exon2			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.801C>T	8.37:g.1497660C>T			1485067	NM_004745	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	0.814	-0.750892	0.03041	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.3	-9.22	0.00675	.	.	.	.	.	T	0.65015	0.2651	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73799	-0.3869	4	.	.	.	-13.3365	18.7685	0.91882	0.0:0.1862:0.0:0.8138	.	.	.	.	M	284	.	.	T	+	2	0	DLGAP2	1485067	0.194000	0.23325	0.001000	0.08648	0.243000	0.25628	-0.319000	0.08039	-2.151000	0.00795	-1.623000	0.00790	ACG		0.667	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745	
DLGAP2	9228	broad.mit.edu	37	8	1626539	1626539	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:1626539C>T	ENST00000421627.2	+	9	2342	c.2208C>T	c.(2206-2208)agC>agT	p.S736S	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	815					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.S744S(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCCAGTACAGCGCGGTGAGAA	0.632																																					p.S736S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2208T	8						.						46.0	54.0	51.0					8																	1626539		2036	4167	6203	1613946	SO:0001819	synonymous_variant	9228	exon9			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2208C>T	8.37:g.1626539C>T			1613946	NM_004745	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	5.089	0.202028	0.09652	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.32	-5.89	0.02282	.	.	.	.	.	T	0.39886	0.1095	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43589	-0.9382	4	.	.	.	-5.8708	4.5514	0.12114	0.1082:0.2527:0.4696:0.1694	.	.	.	.	V	739	.	.	A	+	2	0	DLGAP2	1613946	0.206000	0.23470	0.484000	0.27391	0.502000	0.33828	-0.499000	0.06413	-0.745000	0.04772	-0.284000	0.09977	GCG		0.632	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745	
ARHGEF10	9639	broad.mit.edu	37	8	1853833	1853833	+	Silent	SNP	C	C	A	rs138007359		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:1853833C>A	ENST00000398564.1	+	17	1993	c.1993C>A	c.(1993-1995)Cga>Aga	p.R665R	ARHGEF10_ENST00000262112.6_Silent_p.R665R|ARHGEF10_ENST00000518288.1_Silent_p.R664R|ARHGEF10_ENST00000520359.1_Silent_p.R602R|ARHGEF10_ENST00000349830.3_Silent_p.R640R			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	665					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R417R(1)|p.R665R(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CAAAGAACGCCGAGTCTTCAT	0.418																																					p.R640R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1918A	8						.						162.0	146.0	152.0					8																	1853833		2203	4300	6503	1841240	SO:0001819	synonymous_variant	9639	exon17			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.1993C>A	8.37:g.1853833C>A			1841240	NM_014629	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37																																																																																					0.418	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding			
PCM1	5108	broad.mit.edu	37	8	17797359	17797359	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:17797359delA	ENST00000519253.1	+	6	1023	c.772delA	c.(772-774)aaafs	p.K259fs	PCM1_ENST00000325083.8_Frame_Shift_Del_p.K259fs|PCM1_ENST00000518537.1_Frame_Shift_Del_p.K259fs|PCM1_ENST00000524226.1_Frame_Shift_Del_p.K259fs			Q15154	PCM1_HUMAN	pericentriolar material 1	259					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)	p.I260fs*14(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GAAATTTCTTAAAAAAATCCT	0.323			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																p.K258fs			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.772delA	8						.						19.0	17.0	18.0					8																	17797359		1754	4005	5759	17841639	SO:0001589	frameshift_variant	5108	exon6				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.772delA	8.37:g.17797359delA	ENSP00000431099:p.Lys259fs		17841639	NM_006197	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Frame_Shift_Del	DEL	ENST00000519253.1	37																																																																																					0.323	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197	
ENTPD4	9583	broad.mit.edu	37	8	23290492	23290492	+	Missense_Mutation	SNP	C	C	T	rs556405061		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:23290492C>T	ENST00000358689.4	-	13	2033	c.1798G>A	c.(1798-1800)Gcc>Acc	p.A600T	ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000417069.2_Missense_Mutation_p.A592T|ENTPD4_ENST00000356206.6_Intron	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	600					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)	p.A600T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		ATCCAGAGGGCGGCGGCCGAG	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		12934	0.0		0.0	False		,,,				2504	0.001				p.A600T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1798A	8						.						25.0	29.0	27.0					8																	23290492		2201	4299	6500	23346437	SO:0001583	missense	9583	exon13			AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1798G>A	8.37:g.23290492C>T	ENSP00000351520:p.Ala600Thr		23346437	NM_004901	D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	C	4.444	0.082234	0.08533	.	.	ENSG00000197217	ENST00000358689;ENST00000417069	T;T	0.14022	2.54;2.54	5.06	-2.13	0.07144	.	0.523677	0.21625	N	0.071567	T	0.07369	0.0186	L	0.29908	0.895	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.06405	0.002;0.001	T	0.35251	-0.9796	10	0.21014	T	0.42	-2.4759	7.0059	0.24836	0.171:0.5557:0.0:0.2733	.	592;600	Q9Y227-2;Q9Y227	.;ENTP4_HUMAN	T	600;592	ENSP00000351520:A600T;ENSP00000408573:A592T	ENSP00000351520:A600T	A	-	1	0	ENTPD4	23346437	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.043000	0.12043	-0.227000	0.09884	-0.244000	0.11960	GCC		0.642	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901	
NKX3-1	4824	broad.mit.edu	37	8	23538820	23538820	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:23538820G>A	ENST00000380871.4	-	2	656	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	NKX3-1_ENST00000523261.1_Missense_Mutation_p.R132W	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	207					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R207R(1)|p.R207W(1)		large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		AGGGAGGCCCGGGAGAAGGCC	0.562																																					p.R207W												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C619T	8						.						67.0	71.0	69.0					8																	23538820		2203	4300	6503	23594765	SO:0001583	missense	4824	exon2				CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"""Homeoboxes / ANTP class : NKL subclass"""	7838	protein-coding gene	gene with protein product		602041	"""NK homeobox (Drosophila), family 3, A"", ""NK3 transcription factor related, locus 1 (Drosophila)"""	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.619C>T	8.37:g.23538820G>A	ENSP00000370253:p.Arg207Trp		23594765	NM_006167	O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Missense_Mutation	SNP	ENST00000380871.4	37	CCDS6042.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168965	0.38315	.	.	ENSG00000167034	ENST00000380871;ENST00000300332;ENST00000523261	D;D	0.92199	-2.83;-2.99	5.86	-0.796	0.10912	.	3.071370	0.01081	N	0.004983	D	0.92789	0.7707	L	0.58101	1.795	0.09310	N	1	D	0.76494	0.999	P	0.50490	0.642	T	0.82810	-0.0273	10	0.72032	D	0.01	.	10.7025	0.45934	0.0:0.1095:0.3644:0.5262	.	207	Q99801	NKX31_HUMAN	W	207;163;132	ENSP00000370253:R207W;ENSP00000429729:R132W	ENSP00000300332:R163W	R	-	1	2	NKX3-1	23594765	0.000000	0.05858	0.000000	0.03702	0.369000	0.29798	0.183000	0.16919	0.061000	0.16311	-0.953000	0.02652	CGG		0.562	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215141.2		
FZD3	7976	broad.mit.edu	37	8	28385308	28385308	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:28385308T>C	ENST00000240093.3	+	5	1509	c.1031T>C	c.(1030-1032)aTc>aCc	p.I344T	FZD3_ENST00000537916.1_Missense_Mutation_p.I344T|RNA5SP259_ENST00000365541.1_RNA	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	344					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.I344T(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		ACTCTAACCATCATCCTTTTA	0.433																																					p.I344T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1031C	8						.						143.0	141.0	142.0					8																	28385308		2203	4300	6503	28441227	SO:0001583	missense	7976	exon4			AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1031T>C	8.37:g.28385308T>C	ENSP00000240093:p.Ile344Thr		28441227	NM_145866	A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.739757	0.69304	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.86230	-2.09;-2.09	5.32	5.32	0.75619	GPCR, family 2-like (1);	0.103218	0.64402	N	0.000003	D	0.90518	0.7029	M	0.86343	2.81	0.80722	D	1	P	0.45768	0.866	P	0.46208	0.507	D	0.92147	0.5725	10	0.87932	D	0	.	14.0788	0.64907	0.0:0.0:0.0:1.0	.	344	Q9NPG1	FZD3_HUMAN	T	344	ENSP00000437489:I344T;ENSP00000240093:I344T	ENSP00000240093:I344T	I	+	2	0	FZD3	28441227	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.040000	0.89188	2.007000	0.58848	0.460000	0.39030	ATC		0.433	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866	
UNC5D	137970	broad.mit.edu	37	8	35406823	35406823	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:35406823C>T	ENST00000404895.2	+	2	445	c.117C>T	c.(115-117)ggC>ggT	p.G39G	UNC5D_ENST00000416672.1_Silent_p.G39G|UNC5D_ENST00000287272.2_Silent_p.G39G|UNC5D_ENST00000420357.1_Silent_p.G39G|UNC5D_ENST00000453357.2_Silent_p.G34G	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	39					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.G34G(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTGACAATGGCGAAGCCCTTC	0.468																																					p.G39G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C117T	8						.						56.0	55.0	55.0					8																	35406823		2203	4300	6503	35526365	SO:0001819	synonymous_variant	137970	exon2			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.117C>T	8.37:g.35406823C>T			35526365	NM_080872	Q8WYP7	Silent	SNP	ENST00000404895.2	37	CCDS6093.2																																																																																				0.468	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2		
WHSC1L1	54904	broad.mit.edu	37	8	38184289	38184289	+	Missense_Mutation	SNP	G	G	A	rs149768452	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:38184289G>A	ENST00000317025.8	-	7	2184	c.1667C>T	c.(1666-1668)aCg>aTg	p.T556M	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.T556M|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.T556M|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.T556M	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	556					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.T556M(2)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TACACTCTGCGTTGGCTTTTC	0.383			T	NUP98	AML								G|||	5	0.000998403	0.0038	0.0	5008	,	,		13878	0.0		0.0	False		,,,				2504	0.0				p.T556M			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1667T	8						.	G	MET/THR,MET/THR	12,4394	19.1+/-41.9	0,12,2191	208.0	193.0	198.0		1667,1667	4.0	0.3	8	dbSNP_134	198	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	WHSC1L1	NM_017778.2,NM_023034.1	81,81	0,13,6490	AA,AG,GG		0.0116,0.2724,0.1	benign,benign	556/646,556/1438	38184289	13,12993	2203	4300	6503	38303446	SO:0001583	missense	54904	exon7			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1667C>T	8.37:g.38184289G>A	ENSP00000313983:p.Thr556Met		38303446	NM_017778	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	CCDS43729.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	13.52	2.260824	0.39995	0.002724	1.16E-4	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985;ENST00000528627	D;D;D;T	0.95377	-3.69;-3.69;-3.69;-0.09	5.79	4.0	0.46444	.	0.131610	0.33753	U	0.004598	D	0.90542	0.7036	L	0.36672	1.1	0.09310	N	1	P;P;P;P	0.42123	0.661;0.771;0.705;0.661	B;B;B;B	0.33960	0.062;0.131;0.173;0.062	D	0.83762	0.0215	10	0.66056	D	0.02	.	11.2216	0.48857	0.2028:0.0:0.7972:0.0	.	556;556;556;556	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	M	556;556;493;556;556;22	ENSP00000393284:T556M;ENSP00000313983:T556M;ENSP00000434730:T556M;ENSP00000313410:T556M	ENSP00000313410:T556M	T	-	2	0	WHSC1L1	38303446	0.572000	0.26668	0.303000	0.25071	0.900000	0.52787	1.870000	0.39529	0.785000	0.33685	0.655000	0.94253	ACG		0.383	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034	
ADAM2	2515	broad.mit.edu	37	8	39695662	39695662	+	Missense_Mutation	SNP	G	G	A	rs111349599	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:39695662G>A	ENST00000265708.4	-	1	146	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	ADAM2_ENST00000521880.1_Missense_Mutation_p.R15W|ADAM2_ENST00000379853.2_Missense_Mutation_p.R15W|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000347580.4_Missense_Mutation_p.R15W	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	15					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R15W(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTGTCCATCCGCAGCCCGCCG	0.577													G|||	3	0.000599042	0.0015	0.0	5008	,	,		14761	0.001		0.0	False		,,,				2504	0.0				p.R15W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C43T	8						.	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	86.0	84.0	85.0		43	-1.1	0.0	8	dbSNP_132	85	0,8600		0,0,4300	yes	missense	ADAM2	NM_001464.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	15/736	39695662	1,13005	2203	4300	6503	39814819	SO:0001583	missense	2515	exon1			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.43C>T	8.37:g.39695662G>A	ENSP00000265708:p.Arg15Trp		39814819	NM_001464	P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	CCDS34884.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	0	0.0	G	5.094	0.203013	0.09704	2.27E-4	0.0	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02280	4.99;4.36;5.22;5.18	3.27	-1.15	0.09709	.	.	.	.	.	T	0.01454	0.0047	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.09022	0.001;0.002;0.002;0.0	B;B;B;B	0.10450	0.002;0.0;0.005;0.001	T	0.48937	-0.8990	8	.	.	.	.	1.672	0.02814	0.2165:0.1343:0.4603:0.189	.	15;15;15;15	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	W	15	ENSP00000343854:R15W;ENSP00000369182:R15W;ENSP00000265708:R15W;ENSP00000429352:R15W	.	R	-	1	2	ADAM2	39814819	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.526000	0.22971	-0.626000	0.05596	-1.595000	0.00837	CGG		0.577	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464	
SFRP1	6422	broad.mit.edu	37	8	41166279	41166279	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:41166279C>T	ENST00000220772.3	-	1	737	c.400G>A	c.(400-402)Gag>Aag	p.E134K	SFRP1_ENST00000379845.3_5'Flank	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	134	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A134T(1)|p.E134K(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CGCACGGCCTCGCAGAGCCAG	0.642																																					p.E134K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G400A	8						.						26.0	31.0	30.0					8																	41166279		2202	4300	6502	41285436	SO:0001583	missense	6422	exon1			AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"""Secreted frizzled-related proteins"""	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.400G>A	8.37:g.41166279C>T	ENSP00000220772:p.Glu134Lys		41285436	NM_003012	O00546|O14779	Missense_Mutation	SNP	ENST00000220772.3	37	CCDS34886.1	.	.	.	.	.	.	.	.	.	.	C	34	5.292029	0.95546	.	.	ENSG00000104332	ENST00000220772;ENST00000535263	D	0.81659	-1.52	4.53	3.64	0.41730	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.89653	0.6777	M	0.93283	3.4	0.80722	D	1	D	0.65815	0.995	D	0.65323	0.934	D	0.88761	0.3257	10	0.21014	T	0.42	.	11.0024	0.47614	0.0:0.908:0.0:0.092	.	134	Q8N474	SFRP1_HUMAN	K	134	ENSP00000220772:E134K	ENSP00000220772:E134K	E	-	1	0	SFRP1	41285436	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.893000	0.69798	2.045000	0.60652	0.467000	0.42956	GAG		0.642	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1	NM_003012	
NPBWR1	2831	broad.mit.edu	37	8	53853440	53853440	+	Missense_Mutation	SNP	C	C	T	rs146840260	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:53853440C>T	ENST00000331251.3	+	1	2450	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	325					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)	p.R325C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GATAACTTGCCGCGCGGCAGC	0.687																																					p.R325C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C973T	8						.						15.0	16.0	16.0					8																	53853440		2193	4284	6477	54015993	SO:0001583	missense	2831	exon1			BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.973C>T	8.37:g.53853440C>T	ENSP00000330284:p.Arg325Cys		54015993	NM_005285	Q6NTC7	Missense_Mutation	SNP	ENST00000331251.3	37	CCDS6151.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.757157	0.31137	.	.	ENSG00000183729	ENST00000331251	T	0.37584	1.19	4.66	3.75	0.43078	.	0.000000	0.39834	U	0.001260	T	0.32315	0.0825	N	0.21583	0.68	0.53688	D	0.999975	D	0.69078	0.997	P	0.50231	0.635	T	0.12091	-1.0561	10	0.72032	D	0.01	.	10.7838	0.46393	0.5296:0.4704:0.0:0.0	.	325	P48145	NPBW1_HUMAN	C	325	ENSP00000330284:R325C	ENSP00000330284:R325C	R	+	1	0	NPBWR1	54015993	0.623000	0.27094	0.595000	0.28798	0.015000	0.08874	0.661000	0.25023	1.112000	0.41740	0.561000	0.74099	CGC		0.687	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1	NM_005285	
UBXN2B	137886	broad.mit.edu	37	8	59359961	59359961	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:59359961C>T	ENST00000399598.2	+	8	969	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	283	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.R283W(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						CCTGGATGTCCGGAACTTTAT	0.313																																					p.R283W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C847T	8						.						104.0	88.0	93.0					8																	59359961		1802	4074	5876	59522515	SO:0001583	missense	137886	exon8			AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"""UBX domain containing"""	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.847C>T	8.37:g.59359961C>T	ENSP00000382507:p.Arg283Trp		59522515	NM_001077619	B3KWZ3	Missense_Mutation	SNP	ENST00000399598.2	37	CCDS43741.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377809	0.61735	.	.	ENSG00000215114	ENST00000399598	T	0.49720	0.77	6.08	5.2	0.72013	UBX (3);	0.000000	0.39341	U	0.001389	T	0.74749	0.3757	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80256	-0.1458	10	0.51188	T	0.08	-0.1512	15.1571	0.72752	0.1413:0.8587:0.0:0.0	.	283	Q14CS0	UBX2B_HUMAN	W	283	ENSP00000382507:R283W	ENSP00000382507:R283W	R	+	1	2	UBXN2B	59522515	1.000000	0.71417	0.773000	0.31616	0.266000	0.26442	5.243000	0.65395	1.565000	0.49641	-0.182000	0.12963	CGG		0.313	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619	
EYA1	2138	broad.mit.edu	37	8	72211364	72211364	+	Silent	SNP	C	C	T	rs10098224	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:72211364C>T	ENST00000340726.3	-	9	1383	c.744G>A	c.(742-744)acG>acA	p.T248T	EYA1_ENST00000388742.4_Silent_p.T248T|EYA1_ENST00000388743.2_Silent_p.T247T|EYA1_ENST00000303824.7_Silent_p.T242T|EYA1_ENST00000419131.1_Silent_p.T243T|EYA1_ENST00000388741.2_Silent_p.T214T|EYA1_ENST00000388740.3_Silent_p.T215T	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	248					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)	p.T248T(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGGATGGTGTCGTTGGGCTGG	0.483													C|||	26	0.00519169	0.0189	0.0014	5008	,	,		16002	0.0		0.0	False		,,,				2504	0.0				p.T215T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G645A	8						.	C	,,,	80,4326	69.2+/-107.0	0,80,2123	310.0	255.0	274.0		744,744,729,645	-10.1	0.0	8	dbSNP_119	274	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EYA1	NM_000503.4,NM_172058.2,NM_172059.2,NM_172060.2	,,,	0,81,6422	TT,TC,CC		0.0116,1.8157,0.6228	,,,	248/593,248/593,243/558,215/560	72211364	81,12925	2203	4300	6503	72373918	SO:0001819	synonymous_variant	2138	exon7			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.744G>A	8.37:g.72211364C>T			72373918	NM_172060	A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	ENST00000340726.3	37	CCDS34906.1																																																																																				0.483	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060	
ZFHX4	79776	broad.mit.edu	37	8	77617144	77617144	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:77617144G>T	ENST00000521891.2	+	2	1269	c.821G>T	c.(820-822)aGg>aTg	p.R274M	ZFHX4_ENST00000455469.2_Missense_Mutation_p.R274M|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R274M|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R274M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.R274M(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GATGGGAAAAGGAAACCTGTT	0.428										HNSCC(33;0.089)																											p.R274M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G821T	8						.						270.0	260.0	263.0					8																	77617144		2081	4245	6326	77779699	SO:0001583	missense	79776	exon2				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.821G>T	8.37:g.77617144G>T	ENSP00000430497:p.Arg274Met		77779699	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313177	0.40895	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52754	0.65;0.69;0.65;0.65	5.4	5.4	0.78164	.	0.000000	0.49916	U	0.000135	T	0.66396	0.2785	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.993;0.997;0.997;0.998	T	0.65582	-0.6133	10	0.56958	D	0.05	.	19.3711	0.94488	0.0:0.0:1.0:0.0	.	274;274;274;274	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	M	274	ENSP00000430497:R274M;ENSP00000399605:R274M;ENSP00000050961:R274M;ENSP00000430848:R274M	ENSP00000050961:R274M	R	+	2	0	ZFHX4	77779699	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.263000	0.95617	2.814000	0.96858	0.563000	0.77884	AGG		0.428	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
IMPA1	3612	broad.mit.edu	37	8	82592944	82592944	+	Silent	SNP	C	C	T	rs145492338	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:82592944C>T	ENST00000256108.5	-	3	603	c.138G>A	c.(136-138)acG>acA	p.T46T	IMPA1_ENST00000311489.4_Silent_p.T46T|IMPA1_ENST00000449740.2_Silent_p.T105T|IMPA1_ENST00000523710.1_5'UTR	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	46					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|inositol monophosphate phosphatase activity (GO:0052834)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein homodimerization activity (GO:0042803)	p.T46T(1)		NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	CTTTTTGGTCCGTAGCAGTTA	0.308													c|||	2	0.000399361	0.0008	0.0	5008	,	,		18123	0.001		0.0	False		,,,				2504	0.0				p.T46T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G138A	8						.						100.0	99.0	99.0					8																	82592944		2203	4299	6502	82755499	SO:0001819	synonymous_variant	3612	exon3				CCDS6231.1, CCDS47883.1, CCDS47884.1	8q21.1-q21.3	2008-01-28			ENSG00000133731	ENSG00000133731	3.1.3.25		6050	protein-coding gene	gene with protein product		602064		IMPA		1377913	Standard	NM_005536		Approved		uc011lfq.1	P29218	OTTHUMG00000164682	ENST00000256108.5:c.138G>A	8.37:g.82592944C>T			82755499	NM_001144879	B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71	Silent	SNP	ENST00000256108.5	37	CCDS6231.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	8.237	0.806035	0.16467	.	.	ENSG00000133731	ENST00000523942	.	.	.	4.71	-9.41	0.00613	.	.	.	.	.	T	0.34658	0.0905	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41734	-0.9492	4	.	.	.	-21.7522	3.0183	0.06067	0.2382:0.1861:0.0648:0.5109	.	.	.	.	R	71	.	.	G	-	1	0	IMPA1	82755499	0.612000	0.27000	0.869000	0.34112	0.919000	0.55068	-0.154000	0.10130	-1.632000	0.01541	-1.716000	0.00709	GGA		0.308	IMPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379723.1		
RMDN1	51115	broad.mit.edu	37	8	87492520	87492520	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:87492520G>A	ENST00000406452.3	-	6	786	c.627C>T	c.(625-627)caC>caT	p.H209H	RMDN1_ENST00000430676.2_Silent_p.H179H|RMDN1_ENST00000523911.1_Silent_p.H165H|RMDN1_ENST00000519966.1_Silent_p.H179H	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	209						microtubule (GO:0005874)|mitochondrion (GO:0005739)		p.H209H(1)									TACCCATAAGGTGAATTGAAG	0.254																																					p.H209H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C627T	8						.						21.0	22.0	22.0					8																	87492520		2183	4272	6455	87561636	SO:0001819	synonymous_variant	51115	exon6			AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"""family with sequence similarity 82, member B"""	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.627C>T	8.37:g.87492520G>A			87561636	NM_016033	A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Silent	SNP	ENST00000406452.3	37	CCDS34918.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.273|7.273	0.607550|0.607550	0.14002|0.14002	.|.	.|.	ENSG00000176623|ENSG00000176623	ENST00000519789|ENST00000519639;ENST00000522942	.|.	.|.	.|.	5.62|5.62	3.74|3.74	0.42951|0.42951	.|.	.|.	.|.	.|.	.|.	T|T	0.58666|0.58666	0.2138|0.2138	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.55477|0.55477	-0.8135|-0.8135	4|4	.|.	.|.	.|.	-13.8736|-13.8736	8.5454|8.5454	0.33417|0.33417	0.3312:0.0:0.6688:0.0|0.3312:0.0:0.6688:0.0	.|.	.|.	.|.	.|.	S|I	155|55;15	.|.	.|.	P|T	-|-	1|2	0|0	FAM82B|FAM82B	87561636|87561636	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	1.320000|1.320000	0.33666|0.33666	1.282000|1.282000	0.44496|0.44496	0.655000|0.655000	0.94253|0.94253	CCT|ACC		0.254	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033	
CNBD1	168975	broad.mit.edu	37	8	88365929	88365929	+	Silent	SNP	C	C	T	rs544425898		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:88365929C>T	ENST00000518476.1	+	10	1269	c.1218C>T	c.(1216-1218)agC>agT	p.S406S		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	406								p.S406S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GTGAGATTAGCGTCCTTCTTC	0.323																																					p.S406S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1218T	8						.						99.0	96.0	97.0					8																	88365929		1841	4083	5924	88435045	SO:0001819	synonymous_variant	168975	exon10			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1218C>T	8.37:g.88365929C>T			88435045	NM_173538		Silent	SNP	ENST00000518476.1	37	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	C	8.577	0.881477	0.17467	.	.	ENSG00000176571	ENST00000523299;ENST00000521593	.	.	.	4.98	-8.29	0.01009	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.22819	N	0.998691	.	.	.	.	.	.	T	0.42582	-0.9443	4	.	.	.	-13.8641	15.2981	0.73925	0.0:0.1744:0.0:0.8256	.	.	.	.	V	98;43	.	.	A	+	2	0	CNBD1	88435045	0.157000	0.22836	0.331000	0.25455	0.931000	0.56810	-0.538000	0.06120	-1.602000	0.01599	-0.377000	0.06932	GCG		0.323	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538	
DCAF4L2	138009	broad.mit.edu	37	8	88885440	88885440	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:88885440G>A	ENST00000319675.3	-	1	856	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	254								p.R254C(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTTCCACAGCGCAGATCAATG	0.507																																					p.R254C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C760T	8						.						122.0	115.0	117.0					8																	88885440		2203	4300	6503	88954556	SO:0001583	missense	138009	exon1			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.760C>T	8.37:g.88885440G>A	ENSP00000316496:p.Arg254Cys		88954556	NM_152418		Missense_Mutation	SNP	ENST00000319675.3	37	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473212	0.63737	.	.	ENSG00000176566	ENST00000319675	T	0.25414	1.8	1.92	-0.462	0.12168	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.43809	0.1264	M	0.78916	2.43	0.45621	D	0.998552	D	0.89917	1.0	D	0.81914	0.995	T	0.24870	-1.0148	10	0.87932	D	0	.	6.3105	0.21163	0.2816:0.0:0.7184:0.0	.	254	Q8NA75	DC4L2_HUMAN	C	254	ENSP00000316496:R254C	ENSP00000316496:R254C	R	-	1	0	DCAF4L2	88954556	1.000000	0.71417	0.126000	0.21872	0.469000	0.32828	4.495000	0.60353	-0.423000	0.07394	0.467000	0.42956	CGC		0.507	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418	
MMP16	4325	broad.mit.edu	37	8	89131040	89131040	+	Silent	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:89131040A>G	ENST00000286614.6	-	5	1041	c.760T>C	c.(760-762)Ttg>Ctg	p.L254L	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	254					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L254L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GAATGCTCCAATCCCAGAGCA	0.398																																					p.L254L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T760C	8						.						131.0	119.0	123.0					8																	89131040		2203	4300	6503	89200156	SO:0001819	synonymous_variant	4325	exon5			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.760T>C	8.37:g.89131040A>G			89200156	NM_005941	B2RAN7|Q14824|Q52H48	Silent	SNP	ENST00000286614.6	37	CCDS6246.1																																																																																				0.398	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941	
KIAA1429	25962	broad.mit.edu	37	8	95508622	95508622	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:95508622delT	ENST00000297591.5	-	18	4392	c.4317delA	c.(4315-4317)aaafs	p.K1439fs	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1439					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K1439fs*18(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTAGAAGCTGTTTTAACTCTG	0.393																																					p.K1439fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.4317delA	8						.						135.0	119.0	124.0					8																	95508622		2203	4300	6503	95577798	SO:0001589	frameshift_variant	25962	exon18			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4317delA	8.37:g.95508622delT	ENSP00000297591:p.Lys1439fs		95577798	NM_015496	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Frame_Shift_Del	DEL	ENST00000297591.5	37	CCDS34923.1																																																																																				0.393	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496	
UQCRB	7381	broad.mit.edu	37	8	97243287	97243287	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:97243287T>G	ENST00000287022.5	-	4	435	c.332A>C	c.(331-333)aAg>aCg	p.K111T	UQCRB_ENST00000517523.1_3'UTR|UQCRB_ENST00000518406.1_3'UTR	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	111					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)		p.K111T(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					ACATGATTACTTCTTTGCCCA	0.313																																					p.K111T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A332C	8						.						73.0	82.0	79.0					8																	97243287		2203	4290	6493	97312463	SO:0001583	missense	7381	exon4			X13585	CCDS6269.1, CCDS59107.1	8q22	2011-07-04			ENSG00000156467	ENSG00000156467		"""Mitochondrial respiratory chain complex / Complex III"""	12582	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit VI"", ""cytochrome b-c1 complex subunit 7"""	191330		UQBP		2167087, 2543413, 3056408	Standard	NM_006294		Approved	QP-C, QCR7, UQCR6	uc022ayx.1	P14927	OTTHUMG00000164711	ENST00000287022.5:c.332A>C	8.37:g.97243287T>G	ENSP00000287022:p.Lys111Thr		97312463	NM_006294	E5RJU0|Q6FGD1	Missense_Mutation	SNP	ENST00000287022.5	37	CCDS6269.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471179	0.63625	.	.	ENSG00000156467	ENST00000287022	T	0.51574	0.7	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.64778	0.2629	L	0.60957	1.885	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.67872	-0.5558	10	0.87932	D	0	.	14.3258	0.66518	0.0:0.0:0.0:1.0	.	111	P14927	QCR7_HUMAN	T	111	ENSP00000287022:K111T	ENSP00000287022:K111T	K	-	2	0	UQCRB	97312463	0.998000	0.40836	0.983000	0.44433	0.863000	0.49368	2.988000	0.49386	2.184000	0.69523	0.533000	0.62120	AAG		0.313	UQCRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379863.1	NM_006294	
ZNF34	80778	broad.mit.edu	37	8	145999587	145999587	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:145999587delT	ENST00000343459.4	-	6	812	c.747delA	c.(745-747)aaafs	p.K249fs	ZNF34_ENST00000429371.2_Frame_Shift_Del_p.K228fs			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K249fs*75(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		AATAATGCAATTTTTTCCCAG	0.393																																					p.K249fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.747delA	8						.						56.0	57.0	57.0					8																	145999587		2038	4230	6268	145970391	SO:0001589	frameshift_variant	80778	exon6			BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"""Zinc fingers, C2H2-type"", ""-"""	13098	protein-coding gene	gene with protein product		194526	"""zinc finger protein 34 (KOX 32)"""			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.747delA	8.37:g.145999587delT	ENSP00000341528:p.Lys249fs		145970391	NM_030580	D3DWN1|Q9BSZ0	Frame_Shift_Del	DEL	ENST00000343459.4	37	CCDS47945.1																																																																																				0.393	ZNF34-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382936.1	NM_030580	
COMMD5	28991	broad.mit.edu	37	8	146076245	146076245	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr8:146076245T>C	ENST00000305103.3	-	2	731	c.479A>G	c.(478-480)gAt>gGt	p.D160G	COMMD5_ENST00000402718.3_Missense_Mutation_p.D160G|COMMD5_ENST00000450361.2_Missense_Mutation_p.D160G|AF235103.1_ENST00000578937.1_RNA	NM_014066.3	NP_054785.2	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	160	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.					nucleus (GO:0005634)		p.D160G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GATTGCTACATCCACCCGCCA	0.632																																					p.D160G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A479G	8						.						28.0	26.0	27.0					8																	146076245		2203	4300	6503	146047049	SO:0001583	missense	28991	exon2			AK023070	CCDS6436.1	8q24.3	2006-11-06				ENSG00000170619			17902	protein-coding gene	gene with protein product		608216				15799966, 10918053	Standard	NM_014066		Approved	HT002, FLJ13008, HCaRG	uc003zem.3	Q9GZQ3		ENST00000305103.3:c.479A>G	8.37:g.146076245T>C	ENSP00000304544:p.Asp160Gly		146047049	NM_001081004	D3DWN7|Q9NVN6|Q9UHX5	Missense_Mutation	SNP	ENST00000305103.3	37	CCDS6436.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744378	0.49151	.	.	ENSG00000170619	ENST00000402718;ENST00000450361;ENST00000305103;ENST00000529143;ENST00000533270	T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56	4.32	3.13	0.36017	COMM domain (1);	0.055404	0.64402	N	0.000002	T	0.16685	0.0401	M	0.79475	2.455	0.45415	D	0.998393	B	0.12630	0.006	B	0.15484	0.013	T	0.03315	-1.1049	10	0.52906	T	0.07	-31.5579	6.893	0.24241	0.0:0.1069:0.0:0.8931	.	160	Q9GZQ3	COMD5_HUMAN	G	160	ENSP00000385793:D160G;ENSP00000394331:D160G;ENSP00000304544:D160G;ENSP00000435552:D160G;ENSP00000433758:D160G	ENSP00000304544:D160G	D	-	2	0	COMMD5	146047049	0.686000	0.27661	0.937000	0.37676	0.990000	0.78478	0.905000	0.28504	0.783000	0.33636	0.455000	0.32223	GAT		0.632	COMMD5-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382962.1	NM_014066	
TBC1D2	55357	broad.mit.edu	37	9	100971115	100971115	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:100971115C>T	ENST00000375064.1	-	9	2023	c.1985G>A	c.(1984-1986)cGc>cAc	p.R662H	TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375063.1_Missense_Mutation_p.R202H|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R444H|TBC1D2_ENST00000375066.5_Missense_Mutation_p.R662H	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	662	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)	p.R662H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGGGTGCTCGCGGGCCTGGCC	0.652																																					p.R662H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1985A	9						.						77.0	75.0	75.0					9																	100971115		2203	4300	6503	100010936	SO:0001583	missense	55357	exon9			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.1985G>A	9.37:g.100971115C>T	ENSP00000364205:p.Arg662His		100010936	NM_018421	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37		.	.	.	.	.	.	.	.	.	.	C	5.124	0.208564	0.09757	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112;ENST00000375063	T;T;T;T	0.34472	2.73;2.73;2.73;1.36	5.7	1.56	0.23342	Rab-GAP/TBC domain (4);	0.584537	0.19086	N	0.123110	T	0.14830	0.0358	N	0.05177	-0.1	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.002	T	0.12116	-1.0560	10	0.51188	T	0.08	.	3.5932	0.07997	0.1233:0.5354:0.184:0.1572	.	662;662	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	H	662;662;444;202	ENSP00000364205:R662H;ENSP00000364207:R662H;ENSP00000341567:R444H;ENSP00000364203:R202H	ENSP00000341567:R444H	R	-	2	0	TBC1D2	100010936	0.000000	0.05858	0.006000	0.13384	0.016000	0.09150	0.213000	0.17521	0.775000	0.33450	-0.137000	0.14449	CGC		0.652	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421	
MRPL50	54534	broad.mit.edu	37	9	104152833	104152833	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:104152833T>C	ENST00000374865.4	-	2	413	c.392A>G	c.(391-393)aAt>aGt	p.N131S	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	131						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.N131S(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				AATAGGGACATTATAGAAATC	0.408																																					p.N131S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A392G	9						.						82.0	81.0	81.0					9																	104152833		2202	4298	6500	103192654	SO:0001583	missense	54534	exon2			AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"""Mitochondrial ribosomal proteins / large subunits"""	16654	protein-coding gene	gene with protein product	"""mitochondrial 39S ribosomal protein L50"""	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.392A>G	9.37:g.104152833T>C	ENSP00000363999:p.Asn131Ser		103192654	NM_019051	B7Z358|Q5T7E0|Q9NX15	Missense_Mutation	SNP	ENST00000374865.4	37	CCDS6753.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.559201	0.00910	.	.	ENSG00000136897	ENST00000374865	T	0.42900	0.96	5.9	1.24	0.21308	.	0.396097	0.26286	N	0.025257	T	0.14614	0.0353	N	0.04508	-0.205	0.21416	N	0.999698	B	0.09022	0.002	B	0.06405	0.002	T	0.23619	-1.0183	10	0.09338	T	0.73	-20.1193	4.1972	0.10448	0.0:0.3365:0.4141:0.2495	.	131	Q8N5N7	RM50_HUMAN	S	131	ENSP00000363999:N131S	ENSP00000363999:N131S	N	-	2	0	MRPL50	103192654	0.028000	0.19301	0.021000	0.16686	0.468000	0.32798	0.104000	0.15313	-0.084000	0.12595	0.460000	0.39030	AAT		0.408	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1	NM_019051	
FOXD4	2298	broad.mit.edu	37	9	116972	116972	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:116972G>A	ENST00000382500.2	-	1	1445	c.1148C>T	c.(1147-1149)gCg>gTg	p.A383V		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	383					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A383V(1)		endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCCAGCACCGCGCCCTTGGT	0.697																																					p.A383V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1148T	9						.						23.0	33.0	29.0					9																	116972		2181	4272	6453	106972	SO:0001583	missense	2298	exon1			U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.1148C>T	9.37:g.116972G>A	ENSP00000371940:p.Ala383Val		106972	NM_207305	B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	CCDS34975.1	.	.	.	.	.	.	.	.	.	.	.	8.392	0.839949	0.16891	.	.	ENSG00000170122	ENST00000382500	D	0.94417	-3.42	2.41	-1.2	0.09554	.	0.302920	0.16680	N	0.203998	T	0.81669	0.4871	N	0.08118	0	0.09310	N	1	B	0.25850	0.136	B	0.09377	0.004	T	0.71371	-0.4613	10	0.39692	T	0.17	.	2.0553	0.03579	0.1294:0.1936:0.4791:0.1979	.	383	Q12950	FOXD4_HUMAN	V	383	ENSP00000371940:A383V	ENSP00000371940:A383V	A	-	2	0	FOXD4	106972	0.000000	0.05858	0.003000	0.11579	0.056000	0.15407	-0.339000	0.07832	-0.473000	0.06871	-0.524000	0.04348	GCG		0.697	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305	
OR13C3	138803	broad.mit.edu	37	9	107298682	107298682	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:107298682C>T	ENST00000374781.2	-	1	455	c.413G>A	c.(412-414)gGg>gAg	p.G138E		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G138E(1)		endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TTCTGTTGACCCCATTGCAAA	0.463																																					p.G138E	GBM(86;1248 1274 14222 15028 46219)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G413A	9						.						230.0	195.0	207.0					9																	107298682		2203	4300	6503	106338503	SO:0001583	missense	138803	exon1				CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.413G>A	9.37:g.107298682C>T	ENSP00000363913:p.Gly138Glu		106338503	NM_001001961	Q5VVG1|Q6IF52	Missense_Mutation	SNP	ENST00000374781.2	37	CCDS35089.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126156	0.56721	.	.	ENSG00000204246	ENST00000374781	T	0.01287	5.05	4.72	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000301	T	0.09598	0.0236	M	0.88031	2.925	0.33537	D	0.594424	D	0.89917	1.0	D	0.74674	0.984	T	0.08911	-1.0699	10	0.87932	D	0	.	12.4269	0.55553	0.169:0.831:0.0:0.0	.	138	Q8NGS6	O13C3_HUMAN	E	138	ENSP00000363913:G138E	ENSP00000363913:G138E	G	-	2	0	OR13C3	106338503	0.000000	0.05858	0.927000	0.36925	0.903000	0.53119	0.043000	0.13971	1.340000	0.45581	0.591000	0.81541	GGG		0.463	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2		
ZNF462	58499	broad.mit.edu	37	9	109687544	109687544	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:109687544C>T	ENST00000277225.5	+	3	1640	c.1351C>T	c.(1351-1353)Cga>Tga	p.R451*	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Nonsense_Mutation_p.R451*			Q96JM2	ZN462_HUMAN	zinc finger protein 462	451					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R451*(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACCATGCATCGACGTAGCAT	0.443																																					p.R451X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1351T	9						.						141.0	135.0	137.0					9																	109687544		2203	4300	6503	108727365	SO:0001587	stop_gained	58499	exon3			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1351C>T	9.37:g.109687544C>T	ENSP00000277225:p.Arg451*		108727365	NM_021224	Q5T0T4|Q8N408	Nonsense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	38	7.155930	0.98099	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	.	.	.	5.93	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4398	0.61106	0.0:0.9278:0.0:0.0722	.	.	.	.	X	451	.	.	R	+	1	2	ZNF462	108727365	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.572000	0.53849	1.519000	0.48950	0.561000	0.74099	CGA		0.443	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
ZNF462	58499	broad.mit.edu	37	9	109687834	109687834	+	Silent	SNP	A	A	G	rs146183570	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:109687834A>G	ENST00000277225.5	+	3	1930	c.1641A>G	c.(1639-1641)ccA>ccG	p.P547P	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Silent_p.P547P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	547					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P547P(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						agccaccaccaccgccgccgc	0.592													A|||	72	0.014377	0.0499	0.0072	5008	,	,		10970	0.001		0.0	False		,,,				2504	0.0				p.P547P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1641G	9						.	A		189,4217	104.7+/-143.2	3,183,2017	53.0	51.0	52.0		1641	-6.8	0.0	9	dbSNP_134	52	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZNF462	NM_021224.4		3,185,6315	GG,GA,AA		0.0233,4.2896,1.4686		547/2507	109687834	191,12815	2203	4300	6503	108727655	SO:0001819	synonymous_variant	58499	exon3			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1641A>G	9.37:g.109687834A>G			108727655	NM_021224	Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	CCDS35096.1																																																																																				0.592	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
CTNNAL1	8727	broad.mit.edu	37	9	111761528	111761528	+	Silent	SNP	C	C	T	rs368581163		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:111761528C>T	ENST00000325551.4	-	2	236	c.150G>A	c.(148-150)acG>acA	p.T50T	CTNNAL1_ENST00000374593.4_Silent_p.T50T|CTNNAL1_ENST00000374595.4_Silent_p.T50T|CTNNAL1_ENST00000325580.6_Silent_p.T50T	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	50					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.T50T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GATTAATAAGCGTGGTGATCT	0.328																																					p.T50T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G150A	9						.	T		0,4406		0,0,2203	96.0	102.0	100.0		150	0.8	1.0	9		100	1,8599	816.3+/-406.9	0,1,4299	no	coding-synonymous	CTNNAL1	NM_003798.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		50/735	111761528	1,13005	2203	4300	6503	110801349	SO:0001819	synonymous_variant	8727	exon2			AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.150G>A	9.37:g.111761528C>T			110801349	NM_003798	B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Silent	SNP	ENST00000325551.4	37	CCDS6775.1																																																																																				0.328	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798	
EPB41L4B	54566	broad.mit.edu	37	9	112015790	112015790	+	Nonsense_Mutation	SNP	G	G	A	rs377479255		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:112015790G>A	ENST00000374566.3	-	12	1727	c.1210C>T	c.(1210-1212)Cga>Tga	p.R404*	EPB41L4B_ENST00000374557.4_Nonsense_Mutation_p.R404*	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	404					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)	p.R404*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGGTTCTTCGTAACCTGGAG	0.408																																					p.R404X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1210T	9						.	G	stop/ARG,stop/ARG	0,3796		0,0,1898	166.0	171.0	169.0		1210,1210	4.3	1.0	9		169	1,8241		0,1,4120	no	stop-gained,stop-gained	EPB41L4B	NM_018424.2,NM_019114.3	,	0,1,6018	AA,AG,GG		0.0121,0.0,0.0083	,	404/519,404/901	112015790	1,12037	1898	4121	6019	111055611	SO:0001587	stop_gained	54566	exon12			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1210C>T	9.37:g.112015790G>A	ENSP00000363694:p.Arg404*		111055611	NM_018424	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Nonsense_Mutation	SNP	ENST00000374566.3	37	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	G	43	10.135565	0.99344	0.0	1.21E-4	ENSG00000095203	ENST00000262536;ENST00000374566;ENST00000374557;ENST00000311609	.	.	.	5.26	4.33	0.51752	.	0.000000	0.32884	N	0.005526	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1484	0.72677	0.0:0.0:0.8576:0.1424	.	.	.	.	X	89;404;404;326	.	ENSP00000262536:R89X	R	-	1	2	EPB41L4B	111055611	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.556000	0.60775	1.288000	0.44600	0.655000	0.94253	CGA		0.408	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424	
MUSK	4593	broad.mit.edu	37	9	113562990	113562990	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:113562990C>T	ENST00000374448.4	+	15	2466	c.2332C>T	c.(2332-2334)Cgc>Tgc	p.R778C	MUSK_ENST00000189978.5_Missense_Mutation_p.R778C|MUSK_ENST00000416899.2_Missense_Mutation_p.R770C	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	778	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R778C(1)|p.R778S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TTTTTATAACCGCTACACTAC	0.512																																					p.R692C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C2074T	9						.						86.0	84.0	85.0					9																	113562990		1957	4147	6104	112602811	SO:0001583	missense	4593	exon13			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2332C>T	9.37:g.113562990C>T	ENSP00000363571:p.Arg778Cys		112602811	NM_001166280	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549601	0.86127	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	D	0.83250	-1.7	5.32	5.32	0.75619	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90772	0.7103	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91474	0.5199	10	0.87932	D	0	.	18.355	0.90355	0.0:1.0:0.0:0.0	.	778	O15146	MUSK_HUMAN	C	784;778;778;692;692;776	ENSP00000363571:R778C	ENSP00000189978:R784C	R	+	1	0	MUSK	112602811	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.772000	0.85439	2.636000	0.89361	0.557000	0.71058	CGC		0.512	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
KIAA0368	23392	broad.mit.edu	37	9	114176913	114176913	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:114176913T>C	ENST00000338205.5	-	18	2002	c.1783A>G	c.(1783-1785)Atg>Gtg	p.M595V	KIAA0368_ENST00000259335.4_Missense_Mutation_p.M773V|RNA5SP294_ENST00000411306.1_RNA			Q5VYK3	ECM29_HUMAN	KIAA0368	601					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.M773V(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GCAAGGCACATGCGCAAGTAC	0.498																																					p.M773V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2317G	9						.						93.0	88.0	90.0					9																	114176913		1954	4136	6090	113216734	SO:0001583	missense	23392	exon20			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.1783A>G	9.37:g.114176913T>C	ENSP00000339889:p.Met595Val		113216734	NM_001080398	O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37		.	.	.	.	.	.	.	.	.	.	T	10.48	1.361478	0.24684	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.63744	-0.06	5.27	5.27	0.74061	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55545	0.1927	L	0.57536	1.79	0.80722	D	1	P;B	0.44090	0.826;0.041	B;B	0.37780	0.258;0.018	T	0.55724	-0.8096	10	0.14656	T	0.56	.	15.4944	0.75637	0.0:0.0:0.0:1.0	.	601;70	Q5VYK3;B3KXF2	ECM29_HUMAN;.	V	595;773;70	ENSP00000259335:M773V	ENSP00000259335:M773V	M	-	1	0	KIAA0368	113216734	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	5.823000	0.69272	2.119000	0.64992	0.454000	0.30748	ATG		0.498	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686	
SUSD1	64420	broad.mit.edu	37	9	114904607	114904607	+	Silent	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:114904607A>G	ENST00000374270.3	-	5	871	c.699T>C	c.(697-699)caT>caC	p.H233H	SUSD1_ENST00000374263.3_Silent_p.H233H|SUSD1_ENST00000374264.2_Silent_p.H233H|SUSD1_ENST00000482851.1_5'UTR	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	233	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.H233H(1)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CACCTTGGCAATGTAATTTTG	0.408																																					p.H233H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T699C	9						.						115.0	118.0	117.0					9																	114904607		2203	4300	6503	113944428	SO:0001819	synonymous_variant	64420	exon5			AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.699T>C	9.37:g.114904607A>G			113944428	NM_022486	A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Silent	SNP	ENST00000374270.3	37	CCDS6783.1	.	.	.	.	.	.	.	.	.	.	A	7.504	0.653217	0.14580	.	.	ENSG00000106868	ENST00000415074	.	.	.	5.66	0.0291	0.14161	.	.	.	.	.	T	0.44286	0.1286	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23726	-1.0180	4	.	.	.	-0.156	4.204	0.10480	0.3829:0.0:0.3733:0.2438	.	.	.	.	T	47	.	.	I	-	2	0	SUSD1	113944428	0.000000	0.05858	0.515000	0.27774	0.950000	0.60333	-0.799000	0.04560	0.126000	0.18424	0.528000	0.53228	ATT		0.408	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486	
KIAA1958	158405	broad.mit.edu	37	9	115408102	115408102	+	Splice_Site	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:115408102G>T	ENST00000337530.6	+	3	1640	c.1344G>T	c.(1342-1344)aaG>aaT	p.K448N	KIAA1958_ENST00000536272.1_Splice_Site_p.K476N	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	448								p.K448N(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						ACATCACCAAGGTAAGGGACT	0.493																																					p.K448N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1344T	9						.						125.0	97.0	107.0					9																	115408102		2203	4300	6503	114447923	SO:0001630	splice_region_variant	158405	exon3			AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1344+1G>T	9.37:g.115408102G>T			114447923	NM_133465	B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983174	0.34942	.	.	ENSG00000165185	ENST00000337530;ENST00000536272	T	0.43688	0.94	5.5	5.5	0.81552	.	.	.	.	.	T	0.31009	0.0783	N	0.19112	0.55	0.29584	N	0.848948	B;B	0.23442	0.085;0.037	B;B	0.17098	0.017;0.005	T	0.08638	-1.0712	9	0.17832	T	0.49	.	18.1652	0.89723	0.0:0.0:1.0:0.0	.	476;448	B7ZKW6;Q8N8K9	.;K1958_HUMAN	N	448;476	ENSP00000336940:K448N	ENSP00000336940:K448N	K	+	3	2	KIAA1958	114447923	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.352000	0.73027	2.586000	0.87340	0.655000	0.94253	AAG		0.493	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465	Missense_Mutation
FKBP15	23307	broad.mit.edu	37	9	115956398	115956398	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:115956398C>T	ENST00000238256.3	-	10	1033	c.916G>A	c.(916-918)Gat>Aat	p.D306N		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	306					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)		p.D306N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GCTGCAGAATCGCGGGAACTA	0.483																																					p.D306N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G916A	9						.						88.0	95.0	93.0					9																	115956398		2028	4189	6217	114996219	SO:0001583	missense	23307	exon10			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.916G>A	9.37:g.115956398C>T	ENSP00000238256:p.Asp306Asn		114996219	NM_015258	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444420	0.83993	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	T;T;T	0.35789	1.67;1.66;1.29	5.7	5.7	0.88788	.	.	.	.	.	T	0.59335	0.2186	M	0.70275	2.135	0.41843	D	0.990135	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.984;0.978;0.964	T	0.61217	-0.7107	9	0.62326	D	0.03	-17.2007	15.3412	0.74300	0.0:1.0:0.0:0.0	.	306;306;306	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	N	331;306;331	ENSP00000416158:D331N;ENSP00000238256:D306N;ENSP00000415733:D331N	ENSP00000238256:D306N	D	-	1	0	FKBP15	114996219	0.999000	0.42202	0.999000	0.59377	0.478000	0.33099	3.284000	0.51708	2.683000	0.91414	0.655000	0.94253	GAT		0.483	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258	
FKBP15	23307	broad.mit.edu	37	9	115959230	115959230	+	Silent	SNP	G	G	A	rs577416833		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:115959230G>A	ENST00000238256.3	-	9	963	c.846C>T	c.(844-846)ttC>ttT	p.F282F		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	282	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)		p.F282F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CCTCCACCTCGAACACCAGGA	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		18874	0.001		0.0	False		,,,				2504	0.0				p.F282F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C846T	9						.						85.0	86.0	86.0					9																	115959230		1970	4148	6118	114999051	SO:0001819	synonymous_variant	23307	exon9			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.846C>T	9.37:g.115959230G>A			114999051	NM_015258	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Silent	SNP	ENST00000238256.3	37	CCDS48007.1																																																																																				0.463	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258	
TNC	3371	broad.mit.edu	37	9	117786408	117786408	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:117786408G>A	ENST00000350763.4	-	27	6750	c.6339C>T	c.(6337-6339)tcC>tcT	p.S2113S	TNC_ENST00000423613.2_Silent_p.S1840S|TNC_ENST00000542877.1_Silent_p.S1750S|TNC_ENST00000535648.1_Silent_p.S1658S|TNC_ENST00000340094.3_Silent_p.S1749S|TNC_ENST00000537320.1_Silent_p.S1476S|TNC_ENST00000345230.3_Silent_p.S1476S|TNC_ENST00000341037.4_Silent_p.S1931S|TNC_ENST00000346706.3_Silent_p.S1567S	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2113	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.S2113S(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGTAGGCCATGGAGTCACCTG	0.488																																					p.S2113S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6339T	9						.						133.0	119.0	124.0					9																	117786408		2203	4300	6503	116826229	SO:0001819	synonymous_variant	3371	exon27				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.6339C>T	9.37:g.117786408G>A			116826229	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	CCDS6811.1																																																																																				0.488	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
ASTN2	23245	broad.mit.edu	37	9	119582946	119582946	+	Silent	SNP	C	C	T	rs369400081		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:119582946C>T	ENST00000313400.4	-	12	2257	c.2157G>A	c.(2155-2157)acG>acA	p.T719T	ASTN2_ENST00000373996.3_Silent_p.T715T|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.T668T			O75129	ASTN2_HUMAN	astrotactin 2	719	EGF-like 3.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.T668T(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCAGGGGCAGCGTCTGCTGCA	0.577																																					p.T668T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2004A	9						.	C		0,4406		0,0,2203	102.0	93.0	96.0		2004	-10.7	0.3	9		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ASTN2	NM_014010.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		668/1289	119582946	1,13005	2203	4300	6503	118622767	SO:0001819	synonymous_variant	23245	exon11			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2157G>A	9.37:g.119582946C>T			118622767	NM_014010	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37																																																																																					0.577	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	
BRINP1	1620	broad.mit.edu	37	9	121929600	121929600	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:121929600C>T	ENST00000265922.3	-	8	2509	c.2048G>A	c.(2047-2049)gGc>gAc	p.G683D	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	683					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.G683D(1)									GAACTGGCCGCCCTGTGTGTA	0.572																																					p.G683D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2048A	9						.						148.0	140.0	142.0					9																	121929600		2203	4300	6503	120969421	SO:0001583	missense	1620	exon8			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.2048G>A	9.37:g.121929600C>T	ENSP00000265922:p.Gly683Asp		120969421	NM_014618	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208574	0.39003	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.20069	2.1	5.73	4.83	0.62350	.	0.097765	0.64402	D	0.000001	T	0.25121	0.0610	L	0.52905	1.665	0.80722	D	1	B	0.20780	0.048	B	0.20384	0.029	T	0.04413	-1.0953	10	0.87932	D	0	-19.6087	16.417	0.83745	0.1327:0.8673:0.0:0.0	.	683	O60477	DBC1_HUMAN	D	683	ENSP00000265922:G683D	ENSP00000265922:G683D	G	-	2	0	DBC1	120969421	1.000000	0.71417	0.516000	0.27786	0.982000	0.71751	7.743000	0.85020	1.548000	0.49413	0.650000	0.86243	GGC		0.572	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618	
BRINP1	1620	broad.mit.edu	37	9	122011351	122011351	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:122011351G>A	ENST00000265922.3	-	3	757	c.296C>T	c.(295-297)cCg>cTg	p.P99L	BRINP1_ENST00000373964.2_Missense_Mutation_p.P99L	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	99	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.P99L(1)									TTGAAACTCCGGCATGAGGGG	0.552																																					p.P99L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C296T	9						.						114.0	96.0	102.0					9																	122011351		2203	4300	6503	121051172	SO:0001583	missense	1620	exon3			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.296C>T	9.37:g.122011351G>A	ENSP00000265922:p.Pro99Leu		121051172	NM_014618	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380152	0.95945	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	D;D	0.83992	-1.79;-1.79	5.66	5.66	0.87406	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	D	0.90559	0.7041	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90613	0.4553	10	0.87932	D	0	-20.7727	20.1076	0.97898	0.0:0.0:1.0:0.0	.	99;99	O60477-2;O60477	.;DBC1_HUMAN	L	99	ENSP00000265922:P99L;ENSP00000363075:P99L	ENSP00000265922:P99L	P	-	2	0	DBC1	121051172	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.823000	0.97156	0.650000	0.86243	CCG		0.552	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618	
CDK5RAP2	55755	broad.mit.edu	37	9	123177357	123177357	+	Missense_Mutation	SNP	G	G	A	rs143596126		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:123177357G>A	ENST00000349780.4	-	28	4437	c.4258C>T	c.(4258-4260)Cgg>Tgg	p.R1420W	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R1420W|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R1379W|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R1388W	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1420					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.R1420W(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AACTGTTTCCGTAGCTTCTCA	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19549	0.0		0.0	False		,,,				2504	0.0				p.R1420W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4258T	9						.	G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	190.0	166.0	174.0		4258,4258	5.8	1.0	9	dbSNP_134	174	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CDK5RAP2	NM_001011649.1,NM_018249.4	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1420/1815,1420/1894	123177357	1,13005	2203	4300	6503	122217178	SO:0001583	missense	55755	exon28			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4258C>T	9.37:g.123177357G>A	ENSP00000343818:p.Arg1420Trp		122217178	NM_018249	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	CCDS6823.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.2	3.951120	0.73787	0.0	1.16E-4	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38	5.82	5.82	0.92795	.	0.127878	0.34386	N	0.004005	T	0.63426	0.2510	M	0.84948	2.725	0.35954	D	0.834158	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.996;0.996;1.0;0.991;0.998	T	0.74532	-0.3634	10	0.87932	D	0	.	12.8526	0.57867	0.0:0.0:0.7964:0.2036	.	430;1189;1388;1420;1420;814	Q5JTU8;Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;.;CK5P2_HUMAN;.	W	1388;1379;1420;1420;814;430;1192	ENSP00000354065:R1388W;ENSP00000352258:R1379W;ENSP00000343818:R1420W;ENSP00000353317:R1420W;ENSP00000400395:R814W;ENSP00000409941:R430W	ENSP00000341695:R1192W	R	-	1	2	CDK5RAP2	122217178	1.000000	0.71417	0.981000	0.43875	0.981000	0.71138	3.134000	0.50538	2.760000	0.94817	0.655000	0.94253	CGG		0.403	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249	
TTLL11	158135	broad.mit.edu	37	9	124751546	124751546	+	Silent	SNP	C	C	T	rs201573108		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:124751546C>T	ENST00000373776.3	-	4	1654	c.1467G>A	c.(1465-1467)gcG>gcA	p.A489A	TTLL11_ENST00000321582.5_Silent_p.A489A|TTLL11_ENST00000474723.1_5'UTR	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	489	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.A489A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CTGGAGTCAGCGCGATGACCG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		19929	0.001		0.0	False		,,,				2504	0.0				p.A489A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1467A	9						.						138.0	130.0	133.0					9																	124751546		2203	4300	6503	123791367	SO:0001819	synonymous_variant	158135	exon4			AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.1467G>A	9.37:g.124751546C>T			123791367	NM_001139442		Silent	SNP	ENST00000373776.3	37	CCDS6834.2																																																																																				0.547	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486	
MAPKAP1	79109	broad.mit.edu	37	9	128321915	128321915	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:128321915C>T	ENST00000373498.1	-	5	913	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	MAPKAP1_ENST00000394063.1_Missense_Mutation_p.R90Q|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.R282Q|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.R282Q|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.R90Q|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.R282Q|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.R282Q			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	282					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)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)	p.R282Q(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TACTCACATTCGAACAAAGAG	0.393																																					p.R90Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G269A	9						.						92.0	84.0	87.0					9																	128321915		2203	4300	6503	127361736	SO:0001583	missense	79109	exon5			M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.845G>A	9.37:g.128321915C>T	ENSP00000362597:p.Arg282Gln		127361736	NM_001006620	A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	ENST00000373498.1	37	CCDS35140.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944276	0.73672	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373503;ENST00000373498;ENST00000265960;ENST00000394063;ENST00000420643;ENST00000394060;ENST00000427078	.	.	.	5.93	5.03	0.67393	.	0.061220	0.64402	D	0.000005	T	0.57080	0.2029	M	0.69823	2.125	0.80722	D	1	D;P;D;D;P	0.57899	0.981;0.948;0.957;0.959;0.94	B;B;B;B;B	0.43916	0.436;0.306;0.324;0.227;0.354	T	0.55805	-0.8083	9	0.12766	T	0.61	.	15.5297	0.75948	0.0:0.9331:0.0:0.0669	.	282;282;282;282;282	Q9BPZ7-6;Q9BPZ7-5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;.;SIN1_HUMAN	Q	282;282;90;282;282;90;90;282;90	.	ENSP00000265960:R282Q	R	-	2	0	MAPKAP1	127361736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.826000	0.97356	0.655000	0.94253	CGA		0.393	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1		
CIZ1	25792	broad.mit.edu	37	9	130947917	130947917	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:130947917C>A	ENST00000393608.1	-	5	699	c.497G>T	c.(496-498)gGg>gTg	p.G166V	CIZ1_ENST00000325721.8_Missense_Mutation_p.G142V|CIZ1_ENST00000538431.1_Missense_Mutation_p.G166V|CIZ1_ENST00000372938.5_Missense_Mutation_p.G166V|CIZ1_ENST00000357558.5_Missense_Mutation_p.G166V|CIZ1_ENST00000372948.3_Missense_Mutation_p.G166V|CIZ1_ENST00000372954.1_Missense_Mutation_p.G142V|CIZ1_ENST00000541172.1_Missense_Mutation_p.G65V|CIZ1_ENST00000277465.4_Missense_Mutation_p.G166V|CIZ1_ENST00000476727.2_5'UTR	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	166					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.G166V(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CATGGGGACCCCAACAGGAGG	0.602																																					p.G166V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G497T	9						.						66.0	66.0	66.0					9																	130947917		2203	4300	6503	129987738	SO:0001583	missense	25792	exon5			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.497G>T	9.37:g.130947917C>A	ENSP00000377232:p.Gly166Val		129987738	NM_001131015	A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	ENST00000393608.1	37	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411624	0.83340	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372941;ENST00000372948;ENST00000372938;ENST00000415526;ENST00000324544;ENST00000420484	T;T;T;T;T;T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.44	5.44	0.79542	.	0.240603	0.29987	N	0.010697	D	0.82365	0.5021	L	0.34521	1.04	0.58432	D	0.99999	D;D;D;D;D;D;D;D	0.89917	0.998;0.997;0.999;0.999;0.999;1.0;0.999;0.997	D;D;D;D;D;D;D;D	0.74023	0.928;0.921;0.982;0.964;0.964;0.981;0.944;0.921	T	0.83009	-0.0173	10	0.59425	D	0.04	-29.2311	16.1154	0.81302	0.0:1.0:0.0:0.0	.	166;166;166;166;142;166;142;166	B7Z3U7;B4E0A3;F5H2X7;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;.;CIZ1_HUMAN;.;.	V	142;166;166;166;142;133;65;166;142;166;166;93;166;166	ENSP00000362045:G142V;ENSP00000377232:G166V;ENSP00000439244:G166V;ENSP00000350169:G166V;ENSP00000320374:G142V;ENSP00000445057:G65V;ENSP00000277465:G166V;ENSP00000362039:G166V;ENSP00000362029:G166V;ENSP00000398011:G93V;ENSP00000321780:G166V;ENSP00000407265:G166V	ENSP00000277465:G166V	G	-	2	0	CIZ1	129987738	0.993000	0.37304	0.998000	0.56505	0.989000	0.77384	4.133000	0.57983	2.832000	0.97577	0.655000	0.94253	GGG		0.602	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127	
ODF2	4957	broad.mit.edu	37	9	131262457	131262457	+	Missense_Mutation	SNP	G	G	A	rs372276840		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:131262457G>A	ENST00000434106.3	+	21	2776	c.2413G>A	c.(2413-2415)Gcc>Acc	p.A805T	ODF2_ENST00000604420.1_Missense_Mutation_p.A805T|ODF2_ENST00000444119.2_Missense_Mutation_p.A781T|ODF2_ENST00000351030.3_Missense_Mutation_p.A800T|ODF2_ENST00000372807.5_Missense_Mutation_p.A800T|ODF2_ENST00000393527.3_Missense_Mutation_p.A781T	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	805					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.A781T(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ATCATCATACGCCAACGTGTT	0.577													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18950	0.0		0.0	False		,,,				2504	0.0				p.A869T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2605A	9						.						252.0	202.0	219.0					9																	131262457		2203	4300	6503	130302278	SO:0001583	missense	4957	exon21			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.2413G>A	9.37:g.131262457G>A	ENSP00000403453:p.Ala805Thr		130302278	NM_153435	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472097	0.63737	.	.	ENSG00000136811	ENST00000351030;ENST00000372796;ENST00000303890	T;T;T	0.24908	1.85;1.83;1.84	5.5	5.5	0.81552	.	0.221922	0.38492	N	0.001676	T	0.12902	0.0313	N	0.17082	0.46	0.80722	D	1	B;B;P;B	0.35272	0.142;0.418;0.493;0.142	B;B;B;B	0.25140	0.036;0.058;0.03;0.016	T	0.16305	-1.0407	10	0.16420	T	0.52	-13.7694	11.7969	0.52104	0.0797:0.0:0.9203:0.0	.	800;150;805;781	Q5BJF6-4;Q6PJQ8;Q5BJF6;Q5BJF6-3	.;.;ODFP2_HUMAN;.	T	800;805;781	ENSP00000342581:A800T;ENSP00000361882:A805T;ENSP00000307781:A781T	ENSP00000307781:A781T	A	+	1	0	ODF2	130302278	1.000000	0.71417	0.988000	0.46212	0.923000	0.55619	5.091000	0.64505	2.581000	0.87130	0.561000	0.74099	GCC		0.577	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3		
SPTAN1	6709	broad.mit.edu	37	9	131369974	131369974	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:131369974C>T	ENST00000372731.4	+	32	4248	c.4138C>T	c.(4138-4140)Cga>Tga	p.R1380*	SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.R1380*|SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.R1380*	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1380					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R1380*(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATTGCTGGAGCGACACCAGGT	0.582																																					p.R1360X	NSCLC(120;833 1744 2558 35612 37579)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4078T	9						.						130.0	123.0	126.0					9																	131369974		2203	4300	6503	130409795	SO:0001587	stop_gained	6709	exon31			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4138C>T	9.37:g.131369974C>T	ENSP00000361816:p.Arg1380*		130409795	NM_001195532	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Nonsense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	43	9.885124	0.99288	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	.	.	.	5.63	4.62	0.57501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.027	0.80551	0.1769:0.8231:0.0:0.0	.	.	.	.	X	1380;1380;1380;1360	.	ENSP00000350882:R1380X	R	+	1	2	SPTAN1	130409795	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	3.324000	0.52022	2.814000	0.96858	0.655000	0.94253	CGA		0.582	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	
LRRC8A	56262	broad.mit.edu	37	9	131670374	131670374	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:131670374G>A	ENST00000259324.5	+	3	1454	c.931G>A	c.(931-933)Gcc>Acc	p.A311T	LRRC8A_ENST00000372599.3_Missense_Mutation_p.A311T|LRRC8A_ENST00000372600.4_Missense_Mutation_p.A311T	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	311					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A311T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTACCGCTGTGCCCACCCCCT	0.552																																					p.A311T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G931A	9						.						219.0	164.0	182.0					9																	131670374		2203	4300	6503	130710195	SO:0001583	missense	56262	exon3			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.931G>A	9.37:g.131670374G>A	ENSP00000259324:p.Ala311Thr		130710195	NM_019594	Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	G	2.647	-0.282899	0.05642	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.36340	1.26;1.26;1.26	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.15869	0.0382	N	0.01352	-0.895	0.58432	D	0.999996	P	0.50617	0.937	P	0.45428	0.48	T	0.23084	-1.0198	10	0.02654	T	1	.	17.4817	0.87674	0.0:0.0:1.0:0.0	.	311	Q8IWT6	LRC8A_HUMAN	T	311	ENSP00000361682:A311T;ENSP00000361680:A311T;ENSP00000259324:A311T	ENSP00000259324:A311T	A	+	1	0	LRRC8A	130710195	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	9.869000	0.99810	2.365000	0.80145	0.462000	0.41574	GCC		0.552	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594	
C9orf106	414318	broad.mit.edu	37	9	132084319	132084319	+	RNA	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:132084319G>A	ENST00000316786.1	+	0	280							Q8NAJ2	CI106_HUMAN	chromosome 9 open reading frame 106									p.R76H(1)		large_intestine(1)|lung(1)|ovary(1)|skin(1)	4		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				tctgggtttcgcaccccatgc	0.602																																					p.R76H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G227A	9						.						52.0	54.0	54.0					9																	132084319		1969	4114	6083	131124140			414318	exon2			AK092588		9q34.11	2013-12-05	2013-12-05	2013-12-05	ENSG00000179082	ENSG00000179082			31370	other	unknown							Standard	NM_001012715		Approved	bA65J3.5	uc004bxs.2	Q8NAJ2	OTTHUMG00000020781		9.37:g.132084319G>A			131124140	NM_001012715		Missense_Mutation	SNP	ENST00000316786.1	37																																																																																					0.602	C9orf106-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054576.2		
FNBP1	23048	broad.mit.edu	37	9	132671201	132671201	+	Silent	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:132671201T>C	ENST00000446176.2	-	12	1449	c.1263A>G	c.(1261-1263)ttA>ttG	p.L421L	FNBP1_ENST00000420781.1_Silent_p.L412L|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000355681.3_Silent_p.L392L|FNBP1_ENST00000443566.2_Silent_p.L49L	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	421	Interaction with RND2. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.L421L(1)					Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTTCTTTATTTAACTCATCGA	0.423			T	MLL	AML																																p.L421L			Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1263G	9						.						148.0	125.0	132.0					9																	132671201		1840	4103	5943	131711022	SO:0001819	synonymous_variant	23048	exon12			AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.1263A>G	9.37:g.132671201T>C			131711022	NM_015033	O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Silent	SNP	ENST00000446176.2	37	CCDS48040.1																																																																																				0.423	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2		
ABL1	25	broad.mit.edu	37	9	133759812	133759812	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:133759812G>A	ENST00000318560.5	+	11	2516	c.2135G>A	c.(2134-2136)cGc>cAc	p.R712H		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	712					actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.R712H(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TCCAGCAAGCGCTTCCTGCGC	0.667			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																p.R712H			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2135A	9						.						21.0	24.0	23.0					9																	133759812		2198	4291	6489	132749633	SO:0001583	missense	25	exon11			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.2135G>A	9.37:g.133759812G>A	ENSP00000323315:p.Arg712His		132749633	NM_005157	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799216	0.90538	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.15603	2.41;2.41	5.69	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66351	0.925;0.943	T	0.01920	-1.1247	10	0.41790	T	0.15	.	14.8724	0.70468	0.0:0.0:0.8555:0.1445	.	712;749	P00519;Q59FK4	ABL1_HUMAN;.	H	527;731;712	ENSP00000361423:R731H;ENSP00000323315:R712H	ENSP00000323315:R712H	R	+	2	0	ABL1	132749633	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.537000	0.82033	1.345000	0.45676	0.561000	0.74099	CGC		0.667	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313	
PPAPDC3	84814	broad.mit.edu	37	9	134183501	134183501	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:134183501C>T	ENST00000372264.3	+	2	947	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C		NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	215					negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)	p.R215C(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		GGTGCCCCTGCGTGTGCTGCT	0.682																																					p.R215C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C643T	9						.						72.0	62.0	66.0					9																	134183501		2202	4298	6500	133173322	SO:0001583	missense	84814	exon2			AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 67"""	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.643C>T	9.37:g.134183501C>T	ENSP00000361338:p.Arg215Cys		133173322	NM_032728	Q5T6P0|Q96SS7|Q9BRC3	Missense_Mutation	SNP	ENST00000372264.3	37	CCDS6942.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360670	0.82353	.	.	ENSG00000160539	ENST00000372264	T	0.77358	-1.09	4.68	3.63	0.41609	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87517	0.6197	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88206	0.2887	10	0.49607	T	0.09	-23.0505	13.4585	0.61212	0.2019:0.7981:0.0:0.0	.	215	Q8NBV4	PPAC3_HUMAN	C	215	ENSP00000361338:R215C	ENSP00000361338:R215C	R	+	1	0	PPAPDC3	133173322	1.000000	0.71417	0.980000	0.43619	0.962000	0.63368	2.775000	0.47702	2.296000	0.77279	0.505000	0.49811	CGT		0.682	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728	
PRRC2B	84726	broad.mit.edu	37	9	134363281	134363281	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:134363281G>A	ENST00000357304.4	+	27	6078	c.6023G>A	c.(6022-6024)aGc>aAc	p.S2008N	PRRC2B_ENST00000372249.1_Missense_Mutation_p.S105N|PRRC2B_ENST00000458550.1_Missense_Mutation_p.S1314N|PRRC2B_ENST00000405995.1_Missense_Mutation_p.S1314N|SNORD62A_ENST00000428514.1_RNA|SNORD62B_ENST00000426867.1_RNA	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2008							poly(A) RNA binding (GO:0044822)	p.S2008N(1)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TCACCGCCCAGCACCATGATC	0.607																																					p.S2008N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6023A	9						.						51.0	57.0	55.0					9																	134363281		2107	4235	6342	133353102	SO:0001583	missense	84726	exon27			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.6023G>A	9.37:g.134363281G>A	ENSP00000349856:p.Ser2008Asn		133353102	NM_013318	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761658	0.69763	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550;ENST00000372249	T;T;T	0.04049	3.72;4.06;3.72	4.82	3.91	0.45181	.	0.129482	0.34110	U	0.004243	T	0.04998	0.0134	L	0.38175	1.15	0.49582	D	0.999803	B;B	0.11235	0.004;0.001	B;B	0.13407	0.009;0.002	T	0.37820	-0.9689	10	0.33141	T	0.24	-28.3942	11.898	0.52667	0.0856:0.0:0.9144:0.0	.	1314;2008	Q5JSZ5-5;Q5JSZ5	.;PRC2B_HUMAN	N	1314;2008;1314;105	ENSP00000384606:S1314N;ENSP00000349856:S2008N;ENSP00000398853:S1314N	ENSP00000349856:S2008N	S	+	2	0	PRRC2B	133353102	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.826000	0.39092	2.382000	0.81193	0.561000	0.74099	AGC		0.607	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
TSC1	7248	broad.mit.edu	37	9	135782190	135782190	+	Silent	SNP	G	G	A	rs397514798|rs118203520		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:135782190G>A	ENST00000298552.3	-	14	1587	c.1366C>T	c.(1366-1368)Cta>Tta	p.L456L	TSC1_ENST00000440111.2_Silent_p.L456L|TSC1_ENST00000545250.1_Silent_p.L405L	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	456					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.L456L(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AGATCACTTAGAGTGACAGAA	0.393			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																												p.L455L		yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	.	.	2	Unknown(1)|Substitution - coding silent(1)	large_intestine(1)|bone(1)	c.C1363T	9						.						102.0	93.0	96.0					9																	135782190		2203	4300	6503	134772011	SO:0001819	synonymous_variant	7248	exon14	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1366C>T	9.37:g.135782190G>A			134772011	NM_001162426	B7Z897|Q5VVN5	Silent	SNP	ENST00000298552.3	37	CCDS6956.1																																																																																				0.393	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1		
SURF6	6838	broad.mit.edu	37	9	136198851	136198851	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:136198851C>T	ENST00000372022.4	-	5	1205	c.940G>A	c.(940-942)Gtg>Atg	p.V314M	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	314					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V314M(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		TTCTCCACCACGCCGGCCGTG	0.711																																					p.V314M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G940A	9						.						16.0	17.0	17.0					9																	136198851		2200	4295	6495	135188672	SO:0001583	missense	6838	exon5			AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"""surfeit locus protein 6"""	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.940G>A	9.37:g.136198851C>T	ENSP00000361092:p.Val314Met		135188672	NM_006753	Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Missense_Mutation	SNP	ENST00000372022.4	37	CCDS6962.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063069	0.76187	.	.	ENSG00000148296	ENST00000372022	T	0.19669	2.13	5.15	5.15	0.70609	.	0.199951	0.41712	D	0.000833	T	0.44414	0.1292	M	0.89095	3.005	0.48087	D	0.999589	D	0.58970	0.984	P	0.55667	0.781	T	0.52373	-0.8584	10	0.72032	D	0.01	-29.7682	11.1409	0.48402	0.0:0.9153:0.0:0.0847	.	314	O75683	SURF6_HUMAN	M	314	ENSP00000361092:V314M	ENSP00000361092:V314M	V	-	1	0	SURF6	135188672	0.999000	0.42202	0.941000	0.38009	0.829000	0.46940	4.250000	0.58772	2.387000	0.81309	0.467000	0.42956	GTG		0.711	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054905.1	NM_006753	
DBH	1621	broad.mit.edu	37	9	136508631	136508631	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:136508631G>A	ENST00000393056.2	+	4	853	c.841G>A	c.(841-843)Ggg>Agg	p.G281R		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	281					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.G281R(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CCACTTCAGCGGGCCCTGCGA	0.657																																					p.G281R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G841A	9						.						69.0	69.0	69.0					9																	136508631		2203	4300	6503	135498452	SO:0001583	missense	1621	exon4			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.841G>A	9.37:g.136508631G>A	ENSP00000376776:p.Gly281Arg		135498452	NM_000787	Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086169	0.76642	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.34275	1.37;1.37	4.9	4.9	0.64082	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.000000	0.85682	D	0.000000	T	0.66771	0.2823	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.75121	-0.3429	10	0.87932	D	0	-11.2827	17.0417	0.86491	0.0:0.0:1.0:0.0	.	281	P09172	DOPO_HUMAN	R	281;218;218	ENSP00000376776:G281R;ENSP00000263611:G218R	ENSP00000263611:G218R	G	+	1	0	DBH	135498452	1.000000	0.71417	0.992000	0.48379	0.428000	0.31595	9.071000	0.93980	2.252000	0.74401	0.555000	0.69702	GGG		0.657	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787	
SARDH	1757	broad.mit.edu	37	9	136555642	136555642	+	Silent	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:136555642A>G	ENST00000371872.4	-	16	2186	c.1929T>C	c.(1927-1929)ggT>ggC	p.G643G	SARDH_ENST00000439388.1_Silent_p.G643G|SARDH_ENST00000371868.1_Silent_p.G71G|SARDH_ENST00000422262.2_Silent_p.G475G	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	643					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)	p.G643G(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCAGGTAGTAACCGTCCCCTG	0.632																																					p.G643G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1929C	9						.						63.0	66.0	65.0					9																	136555642		2203	4300	6503	135545463	SO:0001819	synonymous_variant	1757	exon16				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1929T>C	9.37:g.136555642A>G			135545463	NM_007101	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	CCDS6978.1																																																																																				0.632	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1		
SARDH	1757	broad.mit.edu	37	9	136582526	136582526	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:136582526T>C	ENST00000371872.4	-	8	1329	c.1072A>G	c.(1072-1074)Acc>Gcc	p.T358A	SARDH_ENST00000439388.1_Missense_Mutation_p.T358A|SARDH_ENST00000422262.2_Missense_Mutation_p.T190A	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	358					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)	p.T358A(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		ATGTGCTGGGTGAACACCTCC	0.597																																					p.T358A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1072G	9						.						102.0	89.0	94.0					9																	136582526		2203	4300	6503	135572347	SO:0001583	missense	1757	exon8				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1072A>G	9.37:g.136582526T>C	ENSP00000360938:p.Thr358Ala		135572347	NM_007101	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	T	8.184	0.794450	0.16327	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227;ENST00000535281	T;T;T	0.80304	-1.36;-1.36;-1.36	3.95	1.56	0.23342	FAD dependent oxidoreductase (1);	0.365415	0.27147	N	0.020707	T	0.51669	0.1688	N	0.01679	-0.765	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.19976	-1.0289	10	0.28530	T	0.3	-12.9848	7.915	0.29812	0.0:0.1735:0.0:0.8265	.	358	Q9UL12	SARDH_HUMAN	A	358;358;190;358;358;358	ENSP00000360938:T358A;ENSP00000403084:T358A;ENSP00000415537:T190A	ENSP00000360938:T358A	T	-	1	0	SARDH	135572347	0.998000	0.40836	0.996000	0.52242	0.849000	0.48306	0.787000	0.26858	0.034000	0.15491	0.379000	0.24179	ACC		0.597	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1		
WDR5	11091	broad.mit.edu	37	9	137005842	137005842	+	Silent	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:137005842A>G	ENST00000358625.3	+	3	270	c.99A>G	c.(97-99)ccA>ccG	p.P33P	WDR5_ENST00000425041.1_Silent_p.P33P	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	33					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|histone H3-K4 methylation (GO:0051568)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|positive regulation of gluconeogenesis (GO:0045722)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|histone acetyltransferase complex (GO:0000123)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)		p.P33P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		CTGTGAAGCCAAACTATGCTC	0.502																																					p.P33P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A99G	9						.						244.0	223.0	230.0					9																	137005842		2203	4300	6503	135995663	SO:0001819	synonymous_variant	11091	exon3			AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363		"""WD repeat domain containing"""	12757	protein-coding gene	gene with protein product	"""SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)"", ""cilia and flagella associated protein 89"""	609012				11551928	Standard	XM_005272163		Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.99A>G	9.37:g.137005842A>G			135995663	NM_017588	Q91VA5|Q9NWX7|Q9UGP9	Silent	SNP	ENST00000358625.3	37	CCDS6981.1																																																																																				0.502	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254621.1	NM_052821	
FCN1	2219	broad.mit.edu	37	9	137801784	137801784	+	Missense_Mutation	SNP	C	C	T	rs372242075		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:137801784C>T	ENST00000371806.3	-	9	932	c.841G>A	c.(841-843)Gcc>Acc	p.A281T		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	281	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.A281T(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TGACAGTCGGCGTACCACCAG	0.493																																					p.A281T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G841A	9						.	C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	177.0	169.0	172.0		841	-6.4	0.0	9		172	0,8600		0,0,4300	no	missense	FCN1	NM_002003.3	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	281/327	137801784	1,13005	2203	4300	6503	136941605	SO:0001583	missense	2219	exon9			D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.841G>A	9.37:g.137801784C>T	ENSP00000360871:p.Ala281Thr		136941605	NM_002003	Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.674939	0.00751	2.27E-4	0.0	ENSG00000085265	ENST00000371806	T	0.20200	2.09	3.2	-6.39	0.01951	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);Fibrinogen, conserved site (1);	.	.	.	.	T	0.09158	0.0226	N	0.17474	0.49	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.16012	-1.0417	9	0.13853	T	0.58	.	6.7687	0.23581	0.4638:0.1028:0.0:0.4334	.	281	O00602	FCN1_HUMAN	T	281	ENSP00000360871:A281T	ENSP00000360871:A281T	A	-	1	0	FCN1	136941605	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.295000	0.01143	-4.246000	0.00062	-3.954000	0.00015	GCC		0.493	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003	
OLFM1	10439	broad.mit.edu	37	9	137982070	137982070	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:137982070G>A	ENST00000371793.3	+	2	431	c.180G>A	c.(178-180)tgG>tgA	p.W60*	OLFM1_ENST00000277415.11_Nonsense_Mutation_p.W42*|OLFM1_ENST00000252854.4_Nonsense_Mutation_p.W42*|OLFM1_ENST00000392991.4_Nonsense_Mutation_p.W60*|OLFM1_ENST00000371796.3_Nonsense_Mutation_p.W33*	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	60					negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)	p.W42*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		AGGAGAGCTGGCAGGTGTACA	0.617																																					p.W42X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G126A	9						.						47.0	41.0	43.0					9																	137982070		2203	4300	6503	137121891	SO:0001587	stop_gained	10439	exon2			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.180G>A	9.37:g.137982070G>A	ENSP00000360858:p.Trp60*		137121891	NM_014279	Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Nonsense_Mutation	SNP	ENST00000371793.3	37		.	.	.	.	.	.	.	.	.	.	G	38	6.738744	0.97801	.	.	ENSG00000130558	ENST00000277415;ENST00000252854;ENST00000339720;ENST00000371796;ENST00000392991;ENST00000371793	.	.	.	4.75	4.75	0.60458	.	0.136421	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1101	0.89533	0.0:0.0:1.0:0.0	.	.	.	.	X	42;42;49;33;60;60	.	ENSP00000252854:W42X	W	+	3	0	OLFM1	137121891	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.527000	0.98044	2.309000	0.77851	0.655000	0.94253	TGG		0.617	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279	
SEC16A	9919	broad.mit.edu	37	9	139370534	139370534	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:139370534T>C	ENST00000371706.3	-	1	1033	c.1000A>G	c.(1000-1002)Aca>Gca	p.T334A	SEC16A_ENST00000290037.6_Missense_Mutation_p.T334A|SEC16A_ENST00000431893.2_Missense_Mutation_p.T334A|SEC16A_ENST00000313050.7_Missense_Mutation_p.T512A			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	334					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.T512A(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GTATGCAGTGTGGCATCAGGG	0.632																																					p.T512A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1534G	9						.						29.0	32.0	31.0					9																	139370534		2046	4189	6235	138490355	SO:0001583	missense	9919	exon3			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.1000A>G	9.37:g.139370534T>C	ENSP00000360771:p.Thr334Ala		138490355	NM_014866	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37		.	.	.	.	.	.	.	.	.	.	T	0.792	-0.758654	0.03019	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.01	-3.78	0.04333	.	1.478230	0.03725	N	0.252538	T	0.12305	0.0299	L	0.31294	0.92	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.22695	-1.0209	10	0.20519	T	0.43	-0.3102	2.9045	0.05716	0.0918:0.2347:0.3411:0.3324	.	512;334;334;139	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	A	512;334;334;334;139	ENSP00000325827:T512A;ENSP00000360771:T334A;ENSP00000290037:T334A;ENSP00000387583:T334A	ENSP00000290037:T334A	T	-	1	0	SEC16A	138490355	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.965000	0.03829	-0.306000	0.08818	-0.242000	0.12053	ACA		0.632	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459	
FBXW5	54461	broad.mit.edu	37	9	139835461	139835461	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:139835461G>A	ENST00000325285.3	-	9	1699	c.1620C>T	c.(1618-1620)tcC>tcT	p.S540S	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	540					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)	p.S540S(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TGGTGCGTGGGGAGCGCCAGG	0.667																																					p.S540S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1620T	9						.						70.0	62.0	65.0					9																	139835461		2144	4236	6380	138955282	SO:0001819	synonymous_variant	54461	exon9			BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1620C>T	9.37:g.139835461G>A			138955282	NM_018998	B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Silent	SNP	ENST00000325285.3	37	CCDS7014.1																																																																																				0.667	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	NM_018998	
TUBB4B	10383	broad.mit.edu	37	9	140137054	140137054	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:140137054C>T	ENST00000340384.4	+	4	532	c.384C>T	c.(382-384)gaC>gaT	p.D128D		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	128					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)	p.D128D(1)								Albendazole(DB00518)|Mebendazole(DB00643)	AGAGCTGTGACTGCCTGCAGG	0.617																																					p.D128D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C384T	9						.						67.0	68.0	68.0					9																	140137054		2203	4300	6503	139256875	SO:0001819	synonymous_variant	10383	exon4			BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"""Tubulins"""	20771	protein-coding gene	gene with protein product	"""class IVb beta-tubulin"""	602660	"""tubulin, beta 2C"""	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.384C>T	9.37:g.140137054C>T			139256875	NM_006088	A2BFA2|P05217	Silent	SNP	ENST00000340384.4	37	CCDS7039.1																																																																																				0.617	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088	
NSMF	26012	broad.mit.edu	37	9	140344073	140344073	+	Silent	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:140344073T>C	ENST00000371475.3	-	15	1704	c.1473A>G	c.(1471-1473)tcA>tcG	p.S491S	NSMF_ENST00000541195.1_Silent_p.S288S|NSMF_ENST00000371474.3_Silent_p.S466S|NSMF_ENST00000339554.3_Silent_p.S288S|NSMF_ENST00000371482.1_Silent_p.S155S|NSMF_ENST00000371473.3_Silent_p.S461S|NSMF_ENST00000392812.4_Silent_p.S468S|NSMF_ENST00000265663.7_Silent_p.S489S|NSMF_ENST00000371472.2_Silent_p.S489S|NSMF_ENST00000437259.1_Silent_p.S468S|NSMF_ENST00000484316.1_5'UTR	NM_001130969.1	NP_001124441.1	Q6X4W1	NSMF_HUMAN	NMDA receptor synaptonuclear signaling and neuronal migration factor	491					cellular response to amino acid stimulus (GO:0071230)|cellular response to electrical stimulus (GO:0071257)|cellular response to gonadotropin stimulus (GO:0071371)|positive regulation of neuron migration (GO:2001224)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuronal synaptic plasticity (GO:0048168)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuron projection (GO:0043005)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium-dependent protein binding (GO:0048306)	p.S489S(1)									GCTCCAGGGGTGACTCGAAGG	0.647																																					p.S468S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1404G	9						.						34.0	34.0	34.0					9																	140344073		2196	4296	6492	139463894	SO:0001819	synonymous_variant	26012	exon14				CCDS7044.1, CCDS48067.1, CCDS48068.1, CCDS48069.1, CCDS55357.1	9q34.3	2013-01-14	2013-01-14	2013-01-14	ENSG00000165802	ENSG00000165802			29843	protein-coding gene	gene with protein product		608137	"""nasal embryonic LHRH factor"""	NELF		11230166, 10898796	Standard	NM_015537		Approved		uc004cna.3	Q6X4W1	OTTHUMG00000020989	ENST00000371475.3:c.1473A>G	9.37:g.140344073T>C			139463894	NM_001130970	Q2TB96|Q6X4V7|Q6X4V8|Q6X4V9|Q8N2M2|Q96SY1|Q9NPM4|Q9NPP3|Q9NPS3	Silent	SNP	ENST00000371475.3	37	CCDS48069.1																																																																																				0.647	NSMF-204	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015537	
SMARCA2	6595	broad.mit.edu	37	9	2029048	2029048	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:2029048C>T	ENST00000382203.1	+	2	235	c.26C>T	c.(25-27)gCg>gTg	p.A9V	SMARCA2_ENST00000357248.2_Missense_Mutation_p.A9V|SMARCA2_ENST00000382194.1_Missense_Mutation_p.A9V|SMARCA2_ENST00000349721.2_Missense_Mutation_p.A9V			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	9					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.A9V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GACCCTGGTGCGATGCCCCAC	0.577																																					p.A9V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C26T	9						.						10.0	10.0	10.0					9																	2029048		2181	4255	6436	2019048	SO:0001583	missense	6595	exon2			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.26C>T	9.37:g.2029048C>T	ENSP00000371638:p.Ala9Val		2019048	NM_139045	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189960	0.58017	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000457226;ENST00000439732;ENST00000382203;ENST00000382194	D;D;T;D;D	0.87571	-2.26;-2.27;0.82;-2.26;-2.27	5.53	5.53	0.82687	.	0.067530	0.64402	D	0.000014	T	0.79986	0.4541	N	0.22421	0.69	0.80722	D	1	B;B	0.30824	0.296;0.196	B;B	0.19148	0.024;0.017	T	0.77528	-0.2554	10	0.44086	T	0.13	-4.3779	19.4491	0.94860	0.0:1.0:0.0:0.0	.	9;9	P51531-2;P51531	.;SMCA2_HUMAN	V	9	ENSP00000265773:A9V;ENSP00000349788:A9V;ENSP00000392081:A9V;ENSP00000371638:A9V;ENSP00000371629:A9V	ENSP00000265773:A9V	A	+	2	0	SMARCA2	2019048	0.983000	0.35010	0.862000	0.33874	0.985000	0.73830	3.544000	0.53640	2.586000	0.87340	0.655000	0.94253	GCG		0.577	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070	
KIAA0020	9933	broad.mit.edu	37	9	2824765	2824765	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:2824765G>A	ENST00000397885.2	-	11	1292	c.1086C>T	c.(1084-1086)caC>caT	p.H362H		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	362	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.H362H(1)|p.D363fs*21(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TGGCGCCATCGTGTGTGTGTG	0.522																																					p.H362H												.	.	2	Substitution - coding silent(1)|Insertion - Frameshift(1)	large_intestine(2)	c.C1086T	9						.						62.0	47.0	53.0					9																	2824765		2203	4300	6503	2814765	SO:0001819	synonymous_variant	9933	exon11			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.1086C>T	9.37:g.2824765G>A			2814765	NM_014878	A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Silent	SNP	ENST00000397885.2	37	CCDS6448.2																																																																																				0.522	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878	
KDM4C	23081	broad.mit.edu	37	9	6880040	6880040	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:6880040C>T	ENST00000381309.3	+	6	1223	c.658C>T	c.(658-660)Cga>Tga	p.R220*	KDM4C_ENST00000381306.3_Nonsense_Mutation_p.R220*|KDM4C_ENST00000536108.1_Nonsense_Mutation_p.R39*|KDM4C_ENST00000442236.2_Nonsense_Mutation_p.R39*|KDM4C_ENST00000535193.1_Nonsense_Mutation_p.R242*|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000543771.1_Nonsense_Mutation_p.R220*	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	220	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)	p.R220*(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GCATGGAAAACGACTTGAAAG	0.308																																					p.R242X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C724T	9						.						63.0	63.0	63.0					9																	6880040		2203	4298	6501	6870040	SO:0001587	stop_gained	23081	exon6			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.658C>T	9.37:g.6880040C>T	ENSP00000370710:p.Arg220*		6870040	NM_001146696	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Nonsense_Mutation	SNP	ENST00000381309.3	37	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	C	45	11.382966	0.99554	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108	.	.	.	5.16	5.16	0.70880	.	0.153645	0.46442	D	0.000287	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0458	13.7556	0.62935	0.1536:0.8464:0.0:0.0	.	.	.	.	X	242;220;220;220;39;39	.	ENSP00000370707:R220X	R	+	1	2	KDM4C	6870040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.322000	0.52007	2.677000	0.91161	0.591000	0.81541	CGA		0.308	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061	
FREM1	158326	broad.mit.edu	37	9	14848727	14848727	+	Silent	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:14848727A>G	ENST00000380880.3	-	7	1980	c.1197T>C	c.(1195-1197)ccT>ccC	p.P399P	FREM1_ENST00000422223.2_Silent_p.P399P|FREM1_ENST00000380881.4_Silent_p.P400P|RNU6-1260P_ENST00000362944.1_RNA			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	399					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.P400P(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GGACTGTCATAGGTGCACTCC	0.453																																					p.P399P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1197C	9						.						136.0	122.0	127.0					9																	14848727		1932	4142	6074	14838727	SO:0001819	synonymous_variant	158326	exon8			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1197T>C	9.37:g.14848727A>G			14838727	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	CCDS47952.1																																																																																				0.453	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
MLLT3	4300	broad.mit.edu	37	9	20413785	20413785	+	Silent	SNP	C	C	T	rs374461240		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:20413785C>T	ENST00000380338.4	-	5	1345	c.1059G>A	c.(1057-1059)ccG>ccA	p.P353P	MLLT3_ENST00000429426.2_Silent_p.P350P|MLLT3_ENST00000355930.6_5'UTR|MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	353					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.P353P(2)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		CATCAAATGGCGGTAACGTTG	0.373			T	MLL	ALL																																p.P353P			Dom	yes		9	9p22	4300	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""		L	.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G1059A	9						.	C		1,4405	2.1+/-5.4	0,1,2202	141.0	123.0	129.0		1059	-12.2	0.0	9		129	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MLLT3	NM_004529.2		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		353/569	20413785	3,13003	2203	4300	6503	20403785	SO:0001819	synonymous_variant	4300	exon5			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.1059G>A	9.37:g.20413785C>T			20403785	NM_004529	B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	CCDS6494.1																																																																																				0.373	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529	
UBE2R2	54926	broad.mit.edu	37	9	33817924	33817924	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:33817924T>C	ENST00000263228.3	+	1	360	c.169T>C	c.(169-171)Tac>Cac	p.Y57H	RP11-133O22.6_ENST00000454429.2_RNA	NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	57					protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.Y57H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		CGAAGGCGGCTACTTCAAGGT	0.657																																					p.Y57H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T169C	9						.						75.0	73.0	74.0					9																	33817924		2203	4300	6503	33807924	SO:0001583	missense	54926	exon1			AK000426	CCDS6546.1	9p11.2	2008-02-05			ENSG00000107341	ENSG00000107341		"""Ubiquitin-conjugating enzymes E2"""	19907	protein-coding gene	gene with protein product		612506				12037680	Standard	XM_005251496		Approved	UBC3B, CDC34B, FLJ20419, MGC10481	uc003ztm.3	Q712K3	OTTHUMG00000019797	ENST00000263228.3:c.169T>C	9.37:g.33817924T>C	ENSP00000263228:p.Tyr57His		33807924	NM_017811	D3DRL5|Q9NX64	Missense_Mutation	SNP	ENST00000263228.3	37	CCDS6546.1	.	.	.	.	.	.	.	.	.	.	t	22.7	4.318625	0.81469	.	.	ENSG00000107341	ENST00000263228	T	0.38077	1.16	4.67	3.52	0.40303	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.51770	0.1694	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52305	-0.8593	10	0.87932	D	0	-1.6926	11.6237	0.51132	0.0:0.0:0.149:0.851	.	57	Q712K3	UB2R2_HUMAN	H	57	ENSP00000263228:Y57H	ENSP00000263228:Y57H	Y	+	1	0	UBE2R2	33807924	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.156000	0.64905	0.809000	0.34255	0.525000	0.51046	TAC		0.657	UBE2R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052118.1	NM_017811	
KIF24	347240	broad.mit.edu	37	9	34257972	34257972	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:34257972C>A	ENST00000402558.2	-	10	1657	c.1633G>T	c.(1633-1635)Gaa>Taa	p.E545*	KIF24_ENST00000345050.2_Nonsense_Mutation_p.E411*|KIF24_ENST00000379174.3_Nonsense_Mutation_p.E411*|KIF24_ENST00000379166.2_Nonsense_Mutation_p.E545*			Q5T7B8	KIF24_HUMAN	kinesin family member 24	545	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E27*(1)|p.E545*(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTCTTTAGTTCTTTGACCCTG	0.373																																					p.E545X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1633T	9						.						94.0	104.0	101.0					9																	34257972		2203	4300	6503	34247972	SO:0001587	stop_gained	347240	exon11			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1633G>T	9.37:g.34257972C>A	ENSP00000384433:p.Glu545*		34247972	NM_194313	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Nonsense_Mutation	SNP	ENST00000402558.2	37	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	C	37	6.439470	0.97568	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	.	.	.	5.53	5.53	0.82687	.	0.000000	0.43416	D	0.000567	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4658	0.94939	0.0:1.0:0.0:0.0	.	.	.	.	X	545;411;545;411;545	.	ENSP00000340179:E411X	E	-	1	0	KIF24	34247972	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.359000	0.66074	2.599000	0.87857	0.655000	0.94253	GAA		0.373	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5		
UNC13B	10497	broad.mit.edu	37	9	35377554	35377554	+	Nonsense_Mutation	SNP	C	C	T	rs575353228		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:35377554C>T	ENST00000378495.3	+	15	1900	c.1678C>T	c.(1678-1680)Cga>Tga	p.R560*	UNC13B_ENST00000396787.1_Nonsense_Mutation_p.R572*|UNC13B_ENST00000378496.4_Nonsense_Mutation_p.R560*	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	560					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.R560*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GATCCGAGAGCGAAATAAGCC	0.502																																					p.R560X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1678T	9						.						79.0	75.0	76.0					9																	35377554		2203	4300	6503	35367554	SO:0001587	stop_gained	10497	exon15			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.1678C>T	9.37:g.35377554C>T	ENSP00000367756:p.Arg560*		35367554	NM_006377	Q5VYM8	Nonsense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	39	7.776317	0.98483	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0227	13.7801	0.63077	0.2679:0.7321:0.0:0.0	.	.	.	.	X	572;560;560;147	.	ENSP00000367756:R560X	R	+	1	2	UNC13B	35367554	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.423000	0.44705	2.835000	0.97688	0.591000	0.81541	CGA		0.502	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	
CCIN	881	broad.mit.edu	37	9	36170694	36170694	+	Missense_Mutation	SNP	C	C	T	rs142836285	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:36170694C>T	ENST00000335119.2	+	1	1306	c.1195C>T	c.(1195-1197)Cgg>Tgg	p.R399W		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	399					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.R399W(1)		breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CTATGATGAGCGGAAGGAAGT	0.557													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21537	0.0		0.0	False		,,,				2504	0.0				p.R399W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1195T	9						.	C	TRP/ARG	0,4406		0,0,2203	151.0	117.0	128.0		1195	4.8	1.0	9	dbSNP_134	128	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CCIN	NM_005893.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	399/589	36170694	1,13005	2203	4300	6503	36160694	SO:0001583	missense	881	exon1			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1195C>T	9.37:g.36170694C>T	ENSP00000334996:p.Arg399Trp		36160694	NM_005893	Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	CCDS6599.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	11.28	1.591812	0.28357	0.0	1.16E-4	ENSG00000185972	ENST00000335119	T	0.67523	-0.27	5.73	4.76	0.60689	Kelch-type beta propeller (1);	0.275863	0.24314	N	0.039607	T	0.56615	0.1997	N	0.14661	0.345	0.34908	D	0.747202	D	0.76494	0.999	D	0.66084	0.941	T	0.69566	-0.5111	10	0.49607	T	0.09	.	10.2547	0.43390	0.244:0.756:0.0:0.0	.	399	Q13939	CALI_HUMAN	W	399	ENSP00000334996:R399W	ENSP00000334996:R399W	R	+	1	2	CCIN	36160694	0.992000	0.36948	1.000000	0.80357	0.982000	0.71751	1.051000	0.30417	2.699000	0.92147	0.491000	0.48974	CGG		0.557	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893	
FRMPD1	22844	broad.mit.edu	37	9	37745824	37745824	+	Missense_Mutation	SNP	G	G	T	rs201302424		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:37745824G>T	ENST00000539465.1	+	16	4388	c.3795G>T	c.(3793-3795)gaG>gaT	p.E1265D	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.E1265D			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1265						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.E1265D(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GTCCACAAGAGGATCCTCACT	0.483													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20622	0.0		0.0	False		,,,				2504	0.0				p.E1265D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3795T	9						.						104.0	103.0	104.0					9																	37745824		2203	4300	6503	37735824	SO:0001583	missense	22844	exon16			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3795G>T	9.37:g.37745824G>T	ENSP00000444411:p.Glu1265Asp		37735824	NM_014907	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	11.58	1.680769	0.29872	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.08984	3.03;3.03	5.29	3.16	0.36331	.	1.317880	0.04742	N	0.422965	T	0.06917	0.0176	N	0.24115	0.695	0.09310	N	0.999999	B	0.23316	0.083	B	0.21917	0.037	T	0.35500	-0.9786	10	0.28530	T	0.3	-0.4377	5.5894	0.17293	0.2821:0.0:0.7179:0.0	.	1265	Q5SYB0	FRPD1_HUMAN	D	1265	ENSP00000366995:E1265D;ENSP00000444411:E1265D	ENSP00000366995:E1265D	E	+	3	2	FRMPD1	37735824	0.193000	0.23313	0.274000	0.24659	0.212000	0.24457	0.590000	0.23954	1.215000	0.43411	0.556000	0.70494	GAG		0.483	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907	
FXN	2395	broad.mit.edu	37	9	71679915	71679915	+	Missense_Mutation	SNP	C	C	T	rs551991546		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:71679915C>T	ENST00000377270.3	+	4	970	c.446C>T	c.(445-447)aCg>aTg	p.T149M	FXN_ENST00000396366.2_Missense_Mutation_p.T149M|FXN_ENST00000498653.1_Missense_Mutation_p.T74M|FXN_ENST00000396364.3_Missense_Mutation_p.T149M	NM_000144.4	NP_000135.2	Q16595	FRDA_HUMAN	frataxin	149					adult walking behavior (GO:0007628)|aerobic respiration (GO:0009060)|cellular iron ion homeostasis (GO:0006879)|cellular response to hydrogen peroxide (GO:0070301)|embryo development ending in birth or egg hatching (GO:0009792)|heme biosynthetic process (GO:0006783)|ion transport (GO:0006811)|iron incorporation into metallo-sulfur cluster (GO:0018283)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|oxidative phosphorylation (GO:0006119)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)|proprioception (GO:0019230)|protein autoprocessing (GO:0016540)|regulation of ferrochelatase activity (GO:0010722)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)|iron chaperone activity (GO:0034986)|iron-sulfur cluster binding (GO:0051536)	p.T149M(1)		large_intestine(1)|lung(1)	2						AACAAGCAGACGCCAAACAAG	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		20735	0.0		0.0	False		,,,				2504	0.001				p.T149M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C446T	9						.						165.0	154.0	158.0					9																	71679915		2203	4300	6503	70869735	SO:0001583	missense	2395	exon4			U43752	CCDS6626.1, CCDS43834.1, CCDS55313.1	9q21.11	2014-09-17	2004-08-16	2004-08-19	ENSG00000165060	ENSG00000165060			3951	protein-coding gene	gene with protein product		606829	"""Friedreich ataxia"""	FRDA		8596916, 8841185	Standard	NM_000144		Approved	FA, FARR, X25, CyaY	uc004aha.2	Q16595	OTTHUMG00000019977	ENST00000377270.3:c.446C>T	9.37:g.71679915C>T	ENSP00000366482:p.Thr149Met		70869735	NM_000144	A8MXJ6|C9JJ89|O15545|O95656|Q15294|Q5VZ01	Missense_Mutation	SNP	ENST00000377270.3	37	CCDS6626.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367395	0.82463	.	.	ENSG00000165060	ENST00000377270;ENST00000396364;ENST00000396366;ENST00000498653	D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1	5.61	4.69	0.59074	Frataxin conserved site (1);	0.049433	0.85682	D	0.000000	D	0.98226	0.9413	M	0.87827	2.91	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.994	D	0.98810	1.0743	10	0.59425	D	0.04	-20.3673	16.0829	0.81017	0.0:0.8656:0.1344:0.0	.	149;149;149	Q16595-2;Q16595;A8MXJ6	.;FRDA_HUMAN;.	M	149;149;149;74	ENSP00000366482:T149M;ENSP00000379650:T149M;ENSP00000379652:T149M;ENSP00000418015:T74M	ENSP00000366482:T149M	T	+	2	0	FXN	70869735	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.402000	0.79972	1.334000	0.45468	0.561000	0.74099	ACG		0.388	FXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052568.2	NM_000144	
TJP2	9414	broad.mit.edu	37	9	71840276	71840276	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:71840276C>A	ENST00000377245.4	+	6	1217	c.1009C>A	c.(1009-1011)Ctg>Atg	p.L337M	TJP2_ENST00000539225.1_Missense_Mutation_p.L368M|TJP2_ENST00000535702.1_Missense_Mutation_p.L341M|TJP2_ENST00000453658.2_Missense_Mutation_p.L314M|TJP2_ENST00000348208.4_Missense_Mutation_p.L337M|TJP2_ENST00000265384.7_Missense_Mutation_p.L337M	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	337	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)	p.L337M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CCGAACGGGTCTGGCAACTAA	0.473																																					p.L337M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1009A	9						.						94.0	77.0	83.0					9																	71840276		2203	4300	6503	71030096	SO:0001583	missense	9414	exon6			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1009C>A	9.37:g.71840276C>A	ENSP00000366453:p.Leu337Met		71030096	NM_201629	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659703	0.88154	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69	5.81	3.97	0.46021	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	M	0.83774	2.66	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.998;1.0;0.999;0.997	D;D;D;D;D	0.91635	0.964;0.985;0.999;0.986;0.98	T	0.58601	-0.7608	10	0.87932	D	0	.	11.6143	0.51080	0.0:0.8578:0.0:0.1422	.	368;341;337;337;337	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	M	314;337;337;337;341;368	ENSP00000392178:L314M;ENSP00000366453:L337M;ENSP00000345893:L337M;ENSP00000265384:L337M;ENSP00000442090:L341M;ENSP00000438262:L368M	ENSP00000265384:L337M	L	+	1	2	TJP2	71030096	0.998000	0.40836	0.709000	0.30452	0.966000	0.64601	3.271000	0.51608	1.455000	0.47813	0.655000	0.94253	CTG		0.473	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629	
TJP2	9414	broad.mit.edu	37	9	71869244	71869244	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:71869244G>A	ENST00000377245.4	+	23	3735	c.3527G>A	c.(3526-3528)cGc>cAc	p.R1176H	TJP2_ENST00000539225.1_Missense_Mutation_p.R1207H|TJP2_ENST00000535702.1_Missense_Mutation_p.R1143H|TJP2_ENST00000453658.2_Missense_Mutation_p.R1006H|TJP2_ENST00000348208.4_Missense_Mutation_p.R1029H	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1176					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)	p.R1176H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CACTCCAAGCGCGGTTACTAT	0.552																																					p.R1029H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3086A	9						.						90.0	86.0	87.0					9																	71869244		2203	4300	6503	71059064	SO:0001583	missense	9414	exon21			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.3527G>A	9.37:g.71869244G>A	ENSP00000366453:p.Arg1176His		71059064	NM_201629	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393645	0.25205	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000535702;ENST00000539225	T;T;T;T;T	0.18338	2.61;2.45;2.6;2.22;2.48	5.8	3.96	0.45880	.	0.280739	0.31134	N	0.008197	T	0.09512	0.0234	L	0.36672	1.1	0.23056	N	0.998369	B;B;P;B	0.47604	0.097;0.019;0.898;0.06	B;B;B;B	0.36030	0.02;0.01;0.216;0.01	T	0.16689	-1.0394	10	0.07813	T	0.8	.	8.5711	0.33569	0.1465:0.1279:0.7255:0.0	.	1207;1143;1029;1176	F5H301;F5H886;Q9UDY2-2;Q9UDY2	.;.;.;ZO2_HUMAN	H	1006;1176;1029;1143;1207	ENSP00000392178:R1006H;ENSP00000366453:R1176H;ENSP00000345893:R1029H;ENSP00000442090:R1143H;ENSP00000438262:R1207H	ENSP00000345893:R1029H	R	+	2	0	TJP2	71059064	1.000000	0.71417	0.049000	0.19019	0.009000	0.06853	5.745000	0.68672	0.785000	0.33685	-0.176000	0.13171	CGC		0.552	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629	
ALDH1A1	216	broad.mit.edu	37	9	75540464	75540464	+	Missense_Mutation	SNP	A	A	T	rs142547395		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:75540464A>T	ENST00000297785.3	-	6	623	c.569T>A	c.(568-570)gTg>gAg	p.V190E	ALDH1A1_ENST00000376939.1_Missense_Mutation_p.V190E|ALDH1A1_ENST00000482210.1_5'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	190					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)	p.V190E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	TTTGACAACCACTGTGTTTCC	0.418																																					p.V190E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T569A	9						.						121.0	108.0	112.0					9																	75540464		2203	4300	6503	74730284	SO:0001583	missense	216	exon6			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.569T>A	9.37:g.75540464A>T	ENSP00000297785:p.Val190Glu		74730284	NM_000689	O00768|Q5SYR1	Missense_Mutation	SNP	ENST00000297785.3	37	CCDS6644.1	.	.	.	.	.	.	.	.	.	.	A	18.55	3.648962	0.67358	.	.	ENSG00000165092	ENST00000297785;ENST00000376939;ENST00000428593;ENST00000419959;ENST00000446946	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.63	4.48	0.54585	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000003	T	0.52451	0.1735	H	0.98388	4.22	0.58432	D	0.999999	B;B	0.26147	0.143;0.141	B;B	0.36186	0.176;0.219	T	0.64927	-0.6292	10	0.87932	D	0	.	11.8445	0.52376	0.9301:0.0:0.0699:0.0	.	111;190	B4DDF8;P00352	.;AL1A1_HUMAN	E	190;190;204;190;190	ENSP00000297785:V190E;ENSP00000366138:V190E;ENSP00000388026:V190E;ENSP00000401361:V190E	ENSP00000297785:V190E	V	-	2	0	ALDH1A1	74730284	1.000000	0.71417	0.311000	0.25182	0.967000	0.64934	8.903000	0.92573	2.146000	0.66826	0.459000	0.35465	GTG		0.418	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1		
RORB	6096	broad.mit.edu	37	9	77286764	77286764	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:77286764G>T	ENST00000396204.2	+	9	1204	c.1204G>T	c.(1204-1206)Gca>Tca	p.A402S	RORB_ENST00000376896.3_Missense_Mutation_p.A391S			Q92753	RORB_HUMAN	RAR-related orphan receptor B	402	Ligand-binding. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.A391S(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	AATTTATTTTGCACTTCAACA	0.448																																					p.A391S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1171T	9						.						68.0	66.0	66.0					9																	77286764		2203	4300	6503	76476584	SO:0001583	missense	6096	exon9			Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.1204G>T	9.37:g.77286764G>T	ENSP00000379507:p.Ala402Ser		76476584	NM_006914	Q8WX73	Missense_Mutation	SNP	ENST00000396204.2	37		.	.	.	.	.	.	.	.	.	.	G	21.9	4.219603	0.79464	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.97186	-4.28;-4.28	5.73	5.73	0.89815	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97598	0.9213	L	0.50919	1.6	0.80722	D	1	B;B	0.24721	0.1;0.11	B;P	0.47118	0.317;0.538	D	0.95632	0.8690	10	0.56958	D	0.05	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	402;391	Q92753;Q58EY0	RORB_HUMAN;.	S	391;402	ENSP00000366093:A391S;ENSP00000379507:A402S	ENSP00000366093:A391S	A	+	1	0	RORB	76476584	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.904000	0.87408	2.861000	0.98227	0.655000	0.94253	GCA		0.448	RORB-201	KNOWN	basic	protein_coding	protein_coding			
TRPM6	140803	broad.mit.edu	37	9	77390808	77390808	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:77390808C>T	ENST00000360774.1	-	24	3631	c.3394G>A	c.(3394-3396)Gtt>Att	p.V1132I	TRPM6_ENST00000361255.3_Missense_Mutation_p.V1127I|TRPM6_ENST00000451710.3_Missense_Mutation_p.V1132I|TRPM6_ENST00000376864.4_Missense_Mutation_p.V1132I|TRPM6_ENST00000449912.2_Missense_Mutation_p.V1127I|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1132					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.V1132I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTTAATCCAACGTCACCCTCT	0.522																																					p.V1127I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3379A	9						.						89.0	96.0	94.0					9																	77390808		2203	4300	6503	76580628	SO:0001583	missense	140803	exon24			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3394G>A	9.37:g.77390808C>T	ENSP00000354006:p.Val1132Ile		76580628	NM_001177310	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	7.045	0.563378	0.13498	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.96	3.01	0.34805	.	0.494040	0.23918	N	0.043265	T	0.20820	0.0501	L	0.41236	1.265	0.27837	N	0.941243	P;B;P	0.47841	0.739;0.088;0.901	B;B;B	0.37601	0.025;0.065;0.254	T	0.07986	-1.0744	10	0.26408	T	0.33	.	10.2303	0.43252	0.0:0.6769:0.255:0.0681	.	1132;1127;1127	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	I	1132;1132;1127;1127;1132;795;795	ENSP00000354006:V1132I;ENSP00000407341:V1132I;ENSP00000396672:V1127I;ENSP00000354962:V1127I;ENSP00000366060:V1132I	ENSP00000309693:V795I	V	-	1	0	TRPM6	76580628	0.370000	0.25047	0.594000	0.28785	0.166000	0.22503	1.731000	0.38135	0.359000	0.24239	0.655000	0.94253	GTT		0.522	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
TLE4	7091	broad.mit.edu	37	9	82321725	82321725	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:82321725C>T	ENST00000376552.2	+	11	1865	c.847C>T	c.(847-849)Cgc>Tgc	p.R283C	TLE4_ENST00000265284.6_Missense_Mutation_p.R258C|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.R283C|TLE4_ENST00000376520.4_Missense_Mutation_p.R283C	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	283					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)	p.R283C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGACAAGACACGCCTGCTCAA	0.517																																					p.R283C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C847T	9						.						174.0	170.0	171.0					9																	82321725		1924	4121	6045	81511545	SO:0001583	missense	7091	exon11			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.847C>T	9.37:g.82321725C>T	ENSP00000365735:p.Arg283Cys		81511545	NM_007005	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	De_novo_Start_OutOfFrame	SNP	ENST00000376552.2	37	CCDS43837.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.423587|5.423587	0.96111|0.96111	.|.	.|.	ENSG00000106829|ENSG00000106829	ENST00000376552;ENST00000376520;ENST00000376537;ENST00000265284|ENST00000496114	T;T;T;T|T	0.49139|0.31247	0.79;0.85;0.85;0.89|1.5	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55816|0.55816	0.1944|0.1944	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.987;0.998|.	P;P;P|.	0.61275|.	0.886;0.827;0.836|.	T|T	0.52162|0.52162	-0.8612|-0.8612	10|7	0.62326|0.49607	D|T	0.03|0.09	-21.1636|-21.1636	20.2885|20.2885	0.98538|0.98538	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	258;283;283|.	F8W6T6;Q04727-3;Q04727|.	.;.;TLE4_HUMAN|.	C|M	283;283;283;258|73	ENSP00000365735:R283C;ENSP00000365703:R283C;ENSP00000365720:R283C;ENSP00000265284:R258C|ENSP00000417102:T73M	ENSP00000265284:R258C|ENSP00000417102:T73M	R|T	+|+	1|2	0|0	TLE4|TLE4	81511545|81511545	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.996000|0.996000	0.88848|0.88848	7.818000|7.818000	0.86416|0.86416	2.791000|2.791000	0.96007|0.96007	0.650000|0.650000	0.86243|0.86243	CGC|ACG		0.517	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237	
AGTPBP1	23287	broad.mit.edu	37	9	88193940	88193940	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:88193940delT	ENST00000357081.3	-	24	3381	c.3237delA	c.(3235-3237)aaafs	p.K1079fs	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Frame_Shift_Del_p.K1091fs|AGTPBP1_ENST00000376083.3_Frame_Shift_Del_p.K1039fs|AGTPBP1_ENST00000432218.1_Intron			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1079					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.K1039fs*10(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						ATTCTTTAGATTTTTCCACTA	0.398																																					p.K1039fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3117delA	9						.						129.0	123.0	125.0					9																	88193940		2203	4300	6503	87383760	SO:0001589	frameshift_variant	23287	exon24			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.3237delA	9.37:g.88193940delT	ENSP00000349592:p.Lys1079fs		87383760	NM_015239	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Frame_Shift_Del	DEL	ENST00000357081.3	37																																																																																					0.398	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239	
DAPK1	1612	broad.mit.edu	37	9	90264932	90264932	+	Silent	SNP	C	C	A	rs202015930		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:90264932C>A	ENST00000408954.3	+	16	1860	c.1525C>A	c.(1525-1527)Cga>Aga	p.R509R	DAPK1_ENST00000469640.2_Silent_p.R509R|DAPK1_ENST00000491893.1_Silent_p.R509R|DAPK1_ENST00000472284.1_Silent_p.R509R|DAPK1_ENST00000358077.5_Silent_p.R509R	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	509					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R509R(1)|p.R510R(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CATCAAGAACCGAGAAGGAGA	0.572									Chronic Lymphocytic Leukemia, Familial Clustering of																												p.R509R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1525A	9						.						57.0	61.0	60.0					9																	90264932		1932	4145	6077	89454752	SO:0001819	synonymous_variant	1612	exon16	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.1525C>A	9.37:g.90264932C>A			89454752	NM_004938	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	CCDS43842.1																																																																																				0.572	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938	
SPATA31E1	286234	broad.mit.edu	37	9	90503331	90503331	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:90503331A>T	ENST00000325643.5	+	4	3995	c.3929A>T	c.(3928-3930)gAc>gTc	p.D1310V		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1310					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.D1310V(1)									CAGTTTATGGACTGCATGGCT	0.572																																					p.D1310V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3929T	9						.						65.0	61.0	63.0					9																	90503331		2203	4300	6503	89693151	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.3929A>T	9.37:g.90503331A>T	ENSP00000322640:p.Asp1310Val		89693151	NM_178828	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	a	11.16	1.556025	0.27827	.	.	ENSG00000177992	ENST00000325643	T	0.04083	3.71	2.47	-0.118	0.13547	.	2.386890	0.01706	N	0.027428	T	0.11324	0.0276	L	0.42245	1.32	0.09310	N	1	D	0.76494	0.999	D	0.71656	0.974	T	0.38308	-0.9667	10	0.15066	T	0.55	.	2.8849	0.05658	0.5819:0.263:0.1551:0.0	.	1310	Q6ZUB1	CI079_HUMAN	V	1310	ENSP00000322640:D1310V	ENSP00000322640:D1310V	D	+	2	0	C9orf79	89693151	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.037000	0.13840	-0.026000	0.13895	-0.290000	0.09829	GAC		0.572	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828	
ROR2	4920	broad.mit.edu	37	9	94487262	94487262	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:94487262G>A	ENST00000375708.3	-	9	1712	c.1514C>T	c.(1513-1515)gCc>gTc	p.A505V	ROR2_ENST00000375715.1_Missense_Mutation_p.A365V|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	505	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.A505V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGTTTTGATGGCCACAGCCTG	0.637																																					p.A505V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1514T	9						.						106.0	124.0	118.0					9																	94487262		2203	4300	6503	93527083	SO:0001583	missense	4920	exon9			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1514C>T	9.37:g.94487262G>A	ENSP00000364860:p.Ala505Val		93527083	NM_004560	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702705	0.88924	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.95482	-3.72;-3.72	4.47	4.47	0.54385	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41938	D	0.000800	D	0.97182	0.9079	M	0.77486	2.375	0.80722	D	1	D;D	0.63046	0.992;0.992	P;P	0.61070	0.756;0.883	D	0.97620	1.0135	10	0.62326	D	0.03	.	17.7014	0.88295	0.0:0.0:1.0:0.0	.	505;365	Q01974;B1APY4	ROR2_HUMAN;.	V	365;505	ENSP00000364867:A365V;ENSP00000364860:A505V	ENSP00000364860:A505V	A	-	2	0	ROR2	93527083	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	9.085000	0.94083	2.478000	0.83669	0.491000	0.48974	GCC		0.637	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1		
IARS	3376	broad.mit.edu	37	9	95040520	95040520	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:95040520G>A	ENST00000375643.3	-	8	1060	c.794C>T	c.(793-795)gCc>gTc	p.A265V	IARS_ENST00000447699.2_Missense_Mutation_p.A155V|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.A265V	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	265					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.A265V(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TTTATAGAGGGCTGACAATCT	0.388																																					p.A265V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C794T	9						.						153.0	159.0	157.0					9																	95040520		2203	4300	6503	94080341	SO:0001583	missense	3376	exon8			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.794C>T	9.37:g.95040520G>A	ENSP00000364794:p.Ala265Val		94080341	NM_013417	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441752	0.63067	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000395554	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	6.06	5.16	0.70880	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.156215	0.56097	D	0.000032	T	0.37461	0.1004	L	0.59912	1.85	0.80722	D	1	B;B	0.14805	0.005;0.011	B;B	0.23852	0.022;0.049	T	0.13361	-1.0512	10	0.46703	T	0.11	-18.3015	13.7194	0.62717	0.0746:0.0:0.9254:0.0	.	265;110	P41252;Q6P0M4	SYIC_HUMAN;.	V	265;265;155;265;265	ENSP00000364794:A265V;ENSP00000406448:A265V;ENSP00000415020:A155V;ENSP00000378922:A265V	ENSP00000364794:A265V	A	-	2	0	IARS	94080341	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.040000	0.70980	2.885000	0.99019	0.643000	0.83706	GCC		0.388	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161	
SUSD3	203328	broad.mit.edu	37	9	95841797	95841797	+	Missense_Mutation	SNP	C	C	T	rs181899524	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:95841797C>T	ENST00000375472.3	+	4	506	c.470C>T	c.(469-471)aCg>aTg	p.T157M	SUSD3_ENST00000375469.1_Missense_Mutation_p.T144M	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	157						integral component of membrane (GO:0016021)		p.T157M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						GACTTGGAGACGGTGCAGGCC	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		20527	0.002		0.0	False		,,,				2504	0.0				p.T157M												SUSD3,skin,NS,Substitution - coding silent,-1 	.	1	Substitution - Missense(1)	large_intestine(1)	c.C470T	9						.						82.0	70.0	74.0					9																	95841797		2203	4300	6503	94881618	SO:0001583	missense	203328	exon4			AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.470C>T	9.37:g.95841797C>T	ENSP00000364621:p.Thr157Met		94881618	NM_145006	Q49AA6|Q6UXV7	Missense_Mutation	SNP	ENST00000375472.3	37	CCDS6701.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.91	2.675111	0.47781	.	.	ENSG00000157303	ENST00000375472;ENST00000375469	T;T	0.62232	0.04;0.46	4.97	3.98	0.46160	.	0.546900	0.18899	N	0.128096	T	0.71888	0.3393	L	0.53249	1.67	0.34435	D	0.699006	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.983	T	0.76798	-0.2826	10	0.49607	T	0.09	-20.3051	10.5826	0.45265	0.0:0.8049:0.1951:0.0	.	144;157	Q96L08-2;Q96L08	.;SUSD3_HUMAN	M	157;144	ENSP00000364621:T157M;ENSP00000364618:T144M	ENSP00000364618:T144M	T	+	2	0	SUSD3	94881618	0.714000	0.27936	0.959000	0.39883	0.295000	0.27426	0.951000	0.29135	2.668000	0.90789	0.650000	0.86243	ACG		0.612	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053120.1	NM_145006	
NINJ1	4814	broad.mit.edu	37	9	95887312	95887312	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:95887312C>T	ENST00000375446.4	-	3	407	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	NINJ1_ENST00000489274.1_5'UTR	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1	113					cell adhesion (GO:0007155)|hyaloid vascular plexus regression (GO:1990384)|nervous system development (GO:0007399)|positive regulation of cell-matrix adhesion (GO:0001954)|tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)		p.A113T(1)		kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						TCCAGCTTGGCGTGCTTGGCC	0.602																																					p.A113T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G337A	9						.						152.0	127.0	135.0					9																	95887312		2203	4300	6503	94927133	SO:0001583	missense	4814	exon3			U91512	CCDS6703.1	9q22	2008-07-21			ENSG00000131669	ENSG00000131669			7824	protein-coding gene	gene with protein product	"""nerve injury-induced protein-1"""	602062				8780658	Standard	NM_004148		Approved	NIN1	uc004atg.4	Q92982	OTTHUMG00000020242	ENST00000375446.4:c.337G>A	9.37:g.95887312C>T	ENSP00000364595:p.Ala113Thr		94927133	NM_004148	Q6GU89|Q8WUV5|Q9BT07	Missense_Mutation	SNP	ENST00000375446.4	37	CCDS6703.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857589	0.51376	.	.	ENSG00000131669	ENST00000375446	T	0.42131	0.98	4.43	4.43	0.53597	.	0.357269	0.29362	N	0.012370	T	0.23451	0.0567	N	0.03608	-0.345	0.26822	N	0.968778	D	0.54601	0.967	P	0.46940	0.532	T	0.06661	-1.0814	10	0.21540	T	0.41	-11.6262	11.4132	0.49937	0.1807:0.8193:0.0:0.0	.	113	Q92982	NINJ1_HUMAN	T	113	ENSP00000364595:A113T	ENSP00000364595:A113T	A	-	1	0	NINJ1	94927133	0.015000	0.18098	0.999000	0.59377	0.956000	0.61745	0.908000	0.28545	2.467000	0.83353	0.561000	0.74099	GCC		0.602	NINJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053123.2	NM_004148	
PHF2	5253	broad.mit.edu	37	9	96422668	96422668	+	Silent	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:96422668C>A	ENST00000359246.4	+	12	1891	c.1524C>A	c.(1522-1524)ccC>ccA	p.P508P	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	508	Lys-rich.|Pro-rich.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.P508P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		Tccccaagcccccgaagcccc	0.562																																					p.P508P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1524A	9						.						9.0	10.0	10.0					9																	96422668		2155	4224	6379	95462489	SO:0001819	synonymous_variant	5253	exon12			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1524C>A	9.37:g.96422668C>A			95462489	NM_005392	Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	37	CCDS35069.1																																																																																				0.562	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392	
NUTM2F	54754	broad.mit.edu	37	9	97081278	97081278	+	Silent	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:97081278T>C	ENST00000253262.4	-	7	1760	c.1740A>G	c.(1738-1740)ggA>ggG	p.G580G	NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_Silent_p.G565G	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	580								p.G446G(1)									AATCCTGACATCCCAAAAGCA	0.662																																					p.G580G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1740G	9						.						56.0	50.0	52.0					9																	97081278		1993	4155	6148	96121099	SO:0001819	synonymous_variant	54754	exon7				CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.1740A>G	9.37:g.97081278T>C			96121099	NM_017561	B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Silent	SNP	ENST00000253262.4	37	CCDS47994.1																																																																																				0.662	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561	
C9orf3	84909	broad.mit.edu	37	9	97718205	97718205	+	Missense_Mutation	SNP	C	C	T	rs146337789	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:97718205C>T	ENST00000375315.2	+	8	1780	c.1780C>T	c.(1780-1782)Cgg>Tgg	p.R594W	C9orf3_ENST00000297979.5_Missense_Mutation_p.R495W	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	594					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R594W(1)|p.R495W(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		CTTCCTTCTTCGGTTTCTTGC	0.368													c|||	2	0.000399361	0.0	0.0	5008	,	,		19864	0.0		0.0	False		,,,				2504	0.002				p.R495W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1483T	9						.	T	TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	96.0	104.0	101.0		1780,1483	4.2	1.0	9	dbSNP_134	101	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	C9orf3	NM_001193329.1,NM_032823.5	101,101	0,6,6497	TT,TC,CC		0.0465,0.0454,0.0461	probably-damaging,probably-damaging	594/820,495/721	97718205	6,13000	2203	4300	6503	96758026	SO:0001583	missense	84909	exon7			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.1780C>T	9.37:g.97718205C>T	ENSP00000364464:p.Arg594Trp		96758026	NM_032823	Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	c	16.76	3.212265	0.58452	4.54E-4	4.65E-4	ENSG00000148120	ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000375316	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	5.1	4.21	0.49690	.	0.068325	0.56097	N	0.000027	T	0.31482	0.0798	M	0.87097	2.86	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.995;0.999;0.99	T	0.13575	-1.0504	10	0.35671	T	0.21	-10.6458	13.19	0.59704	0.0:0.9216:0.0:0.0784	.	13;594;495;495	E9PF71;Q8N6M6;Q8N6M6-4;Q8N6M6-2	.;AMPO_HUMAN;.;.	W	495;594;318;376;13	ENSP00000297979:R495W;ENSP00000364464:R594W;ENSP00000402171:R318W;ENSP00000401854:R376W	ENSP00000297979:R495W	R	+	1	2	C9orf3	96758026	0.997000	0.39634	1.000000	0.80357	0.824000	0.46624	1.230000	0.32612	1.535000	0.49220	-0.119000	0.15052	CGG		0.368	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823	
PTCH1	5727	broad.mit.edu	37	9	98229498	98229498	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:98229498G>A	ENST00000331920.6	-	15	2759	c.2460C>T	c.(2458-2460)taC>taT	p.Y820Y	PTCH1_ENST00000418258.1_Silent_p.Y669Y|PTCH1_ENST00000437951.1_Silent_p.Y754Y|PTCH1_ENST00000429896.2_Silent_p.Y669Y|PTCH1_ENST00000375274.2_Silent_p.Y819Y|PTCH1_ENST00000421141.1_Silent_p.Y669Y|PTCH1_ENST00000430669.2_Silent_p.Y754Y	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	820					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.Y820Y(4)|p.Y819Y(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TGTGTAGGTCGTAAAGTAAGT	0.398																																					p.Y669Y												.	.	6	Substitution - coding silent(6)	large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)	c.C2007T	9						.						190.0	179.0	182.0					9																	98229498		2203	4300	6503	97269319	SO:0001819	synonymous_variant	5727	exon15			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2460C>T	9.37:g.98229498G>A			97269319	NM_001083605	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	ENST00000331920.6	37	CCDS6714.1																																																																																				0.398	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	
CTSV	1515	broad.mit.edu	37	9	99795260	99795260	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:99795260C>T	ENST00000259470.5	-	8	1225	c.976G>A	c.(976-978)Gcc>Acc	p.A326T	CTSV_ENST00000538255.1_Missense_Mutation_p.A326T	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	326					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)	p.A326T(1)									GCTGCTGTGGCGATTCCACAG	0.468																																					p.A326T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G976A	9						.						140.0	117.0	125.0					9																	99795260		2203	4300	6503	98835081	SO:0001583	missense	1515	exon8			Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.976G>A	9.37:g.99795260C>T	ENSP00000259470:p.Ala326Thr		98835081	NM_001333	O60233|Q2TB86|Q5T1U0	Missense_Mutation	SNP	ENST00000259470.5	37	CCDS6723.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591770	0.86953	.	.	ENSG00000136943	ENST00000259470;ENST00000538255	D;D	0.87887	-2.31;-2.31	3.81	3.81	0.43845	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.89086	0.6615	M	0.78916	2.43	0.80722	D	1	D	0.57899	0.981	P	0.49192	0.602	D	0.89713	0.3913	9	.	.	.	.	14.002	0.64439	0.0:1.0:0.0:0.0	.	326	O60911	CATL2_HUMAN	T	326	ENSP00000259470:A326T;ENSP00000445052:A326T	.	A	-	1	0	CTSL2	98835081	1.000000	0.71417	0.770000	0.31555	0.683000	0.39861	5.410000	0.66381	2.449000	0.82847	0.563000	0.77884	GCC		0.468	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333	
CTSV	1515	broad.mit.edu	37	9	99795330	99795330	+	Splice_Site	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:99795330G>T	ENST00000259470.5	-	8	1155	c.906C>A	c.(904-906)agC>agA	p.S302R	CTSV_ENST00000538255.1_Splice_Site_p.S302R	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	302					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)	p.S302R(1)									CTGGACCCCAGCTGAAAGAGG	0.438																																					p.S302R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C906A	9						.						84.0	77.0	79.0					9																	99795330		2203	4300	6503	98835151	SO:0001630	splice_region_variant	1515	exon8			Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.906-1C>A	9.37:g.99795330G>T			98835151	NM_001333	O60233|Q2TB86|Q5T1U0	Missense_Mutation	SNP	ENST00000259470.5	37	CCDS6723.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351248	0.41700	.	.	ENSG00000136943	ENST00000259470;ENST00000538255	T;T	0.57273	0.41;0.41	3.81	0.446	0.16602	Peptidase C1A, papain C-terminal (3);	0.088399	0.85682	D	0.000000	T	0.80854	0.4703	H	0.99415	4.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79811	-0.1646	9	.	.	.	.	7.7498	0.28890	0.3201:0.0:0.6799:0.0	.	302	O60911	CATL2_HUMAN	R	302	ENSP00000259470:S302R;ENSP00000445052:S302R	.	S	-	3	2	CTSL2	98835151	1.000000	0.71417	1.000000	0.80357	0.236000	0.25371	2.843000	0.48238	0.081000	0.16988	0.563000	0.77884	AGC		0.438	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333	Missense_Mutation
CCDC180	100499483	broad.mit.edu	37	9	100136833	100136833	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:100136833delC	ENST00000357054.1	+	47	5511	c.4576delC	c.(4576-4578)cccfs	p.P1527fs	CCDC180_ENST00000375202.2_Frame_Shift_Del_p.P1582fs|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Frame_Shift_Del_p.P1582fs			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1527						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.K1528fs*17(1)									AGGGATGGAGCCCCCCAAACA	0.522																																					p.P1581fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.4741delC	9						.						67.0	58.0	61.0					9																	100136833		2203	4300	6503	99176654	SO:0001589	frameshift_variant	57653	exon35			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4576delC	9.37:g.100136833delC	ENSP00000349562:p.Pro1527fs		99176654	NM_020893	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Frame_Shift_Del	DEL	ENST00000357054.1	37																																																																																					0.522	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893	
COL5A1	1289	broad.mit.edu	37	9	137708907	137708907	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:137708907delG	ENST00000371817.3	+	53	4572	c.4158delG	c.(4156-4158)tcgfs	p.S1386fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1386	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.P1388fs*100(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAGGTCCATCGGGGCCTCCAG	0.557																																					p.S1386fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.4158delG	9						.						105.0	99.0	101.0					9																	137708907		2203	4300	6503	136848728	SO:0001589	frameshift_variant	1289	exon53			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4158delG	9.37:g.137708907delG	ENSP00000360882:p.Ser1386fs		136848728	NM_000093	Q15094|Q5SUX4	Frame_Shift_Del	DEL	ENST00000371817.3	37	CCDS6982.1																																																																																				0.557	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
SNAPC4	6621	broad.mit.edu	37	9	139276485	139276485	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:139276485delG	ENST00000298532.2	-	17	2476	c.2108delC	c.(2107-2109)ccafs	p.P703fs		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.P703fs*38(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GCTGACCCCTGGGGATGAGGT	0.677																																					p.P703fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2108delC	9						.						14.0	16.0	15.0					9																	139276485		2199	4289	6488	138396306	SO:0001589	frameshift_variant	6621	exon17			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.2108delC	9.37:g.139276485delG	ENSP00000298532:p.Pro703fs		138396306	NM_003086		Frame_Shift_Del	DEL	ENST00000298532.2	37	CCDS6998.1																																																																																				0.677	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086	
EHMT1	79813	broad.mit.edu	37	9	140638479	140638479	+	Silent	SNP	G	G	A	rs540617218	byFrequency	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chr9:140638479G>A	ENST00000460843.1	+	6	1134	c.1107G>A	c.(1105-1107)gcG>gcA	p.A369A	EHMT1_ENST00000462484.1_Silent_p.A369A|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Silent_p.A338A	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	369					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.A338A(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGGCGGCCGCGTTCCCCACAG	0.612													G|||	7	0.00139776	0.0	0.0	5008	,	,		16877	0.0		0.0	False		,,,				2504	0.0072				p.A369A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1107A	9						.						75.0	75.0	75.0					9																	140638479		2203	4300	6503	139758300	SO:0001819	synonymous_variant	79813	exon6			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.1107G>A	9.37:g.140638479G>A			139758300	NM_024757	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	CCDS7050.2																																																																																				0.612	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757	
ARMCX2	9823	broad.mit.edu	37	X	100911266	100911266	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:100911266T>C	ENST00000328766.5	-	5	1762	c.1309A>G	c.(1309-1311)Atc>Gtc	p.I437V	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Missense_Mutation_p.I437V|ARMCX2_ENST00000356824.4_Missense_Mutation_p.I437V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	437						integral component of membrane (GO:0016021)		p.I437V(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GTTTTGTTGATCATGTTTGCA	0.418																																					p.I437V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1309G	X						.						139.0	126.0	130.0					X																	100911266		2203	4300	6503	100797922	SO:0001583	missense	9823	exon6			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1309A>G	X.37:g.100911266T>C	ENSP00000331662:p.Ile437Val		100797922	NM_177949	O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.176326	0.38413	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.52526	0.66;0.66;0.66	4.09	4.09	0.47781	Armadillo-like helical (1);Armadillo-type fold (1);	0.057568	0.64402	D	0.000001	T	0.50205	0.1602	L	0.31476	0.935	0.31031	N	0.717457	P	0.45827	0.867	P	0.61592	0.891	T	0.52540	-0.8562	10	0.45353	T	0.12	-8.3262	8.5012	0.33159	0.0:0.0:0.0:1.0	.	437	Q7L311	ARMX2_HUMAN	V	437	ENSP00000331662:I437V;ENSP00000328631:I437V;ENSP00000349281:I437V	ENSP00000331662:I437V	I	-	1	0	ARMCX2	100797922	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.403000	0.34612	1.826000	0.53198	0.345000	0.21793	ATC		0.418	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782	
TCEAL6	158931	broad.mit.edu	37	X	101395943	101395943	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:101395943A>G	ENST00000372774.3	-	3	610	c.361T>C	c.(361-363)Tcc>Ccc	p.S121P	TCEAL6_ENST00000372773.1_Missense_Mutation_p.S121P	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	121					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S121P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						TCCTTGGGGGAATCGTCCGTC	0.572																																					p.S121P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T361C	X						.						95.0	89.0	91.0					X																	101395943		2203	4300	6503	101282599	SO:0001583	missense	158931	exon3			BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.361T>C	X.37:g.101395943A>G	ENSP00000361860:p.Ser121Pro		101282599	NM_001006938	Q5H9J8	Missense_Mutation	SNP	ENST00000372774.3	37	CCDS43978.1	.	.	.	.	.	.	.	.	.	.	A	1.309	-0.602702	0.03744	.	.	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	T;T	0.11277	2.79;2.79	2.65	1.48	0.22813	.	0.202302	0.24993	N	0.033970	T	0.07369	0.0186	L	0.39633	1.23	0.09310	N	1	B	0.24768	0.111	B	0.22753	0.041	T	0.30446	-0.9978	10	0.30854	T	0.27	.	3.8723	0.09042	0.8152:0.0:0.1848:0.0	.	121	Q6IPX3-2	.	P	121	ENSP00000361860:S121P;ENSP00000361859:S121P	ENSP00000361859:S121P	S	-	1	0	TCEAL6	101282599	0.002000	0.14202	0.002000	0.10522	0.292000	0.27327	1.382000	0.34374	0.319000	0.23209	0.381000	0.24937	TCC		0.572	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938	
IRS4	8471	broad.mit.edu	37	X	107977961	107977961	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:107977961C>A	ENST00000372129.2	-	1	1690	c.1614G>T	c.(1612-1614)caG>caT	p.Q538H	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	538					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.Q538H(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTCCTGAGCCCTGGCCATTTG	0.627																																					p.Q538H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1614T	X						.						134.0	135.0	135.0					X																	107977961		2203	4300	6503	107864617	SO:0001583	missense	8471	exon1			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1614G>T	X.37:g.107977961C>A	ENSP00000361202:p.Gln538His		107864617	NM_003604		Missense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319321	0.23994	.	.	ENSG00000133124	ENST00000372129	T	0.36699	1.24	4.88	1.08	0.20341	.	0.150888	0.44902	D	0.000405	T	0.24236	0.0587	L	0.44542	1.39	0.09310	N	0.999999	B	0.10296	0.003	B	0.12156	0.007	T	0.15407	-1.0438	10	0.42905	T	0.14	-5.5413	3.39	0.07285	0.1808:0.5152:0.0:0.3039	.	538	O14654	IRS4_HUMAN	H	538	ENSP00000361202:Q538H	ENSP00000361202:Q538H	Q	-	3	2	IRS4	107864617	0.004000	0.15560	0.476000	0.27291	0.936000	0.57629	-0.166000	0.09954	-0.036000	0.13669	0.600000	0.82982	CAG		0.627	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604	
TMEM164	84187	broad.mit.edu	37	X	109247078	109247078	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:109247078G>A	ENST00000372073.1	+	2	412	c.76G>A	c.(76-78)Ggc>Agc	p.G26S	TMEM164_ENST00000288381.4_Missense_Mutation_p.G26S|TMEM164_ENST00000372072.3_Intron|TMEM164_ENST00000372068.2_Missense_Mutation_p.G26S			Q5U3C3	TM164_HUMAN	transmembrane protein 164	26						integral component of membrane (GO:0016021)		p.G26S(1)		cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						AGGCAATGGGGGCCCCGACTG	0.617																																					p.G26S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G76A	X						.						87.0	92.0	90.0					X																	109247078		2203	4300	6503	109133734	SO:0001583	missense	84187	exon2			AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.76G>A	X.37:g.109247078G>A	ENSP00000361143:p.Gly26Ser		109133734	NM_032227	B3KSQ8|F5H2P2	Missense_Mutation	SNP	ENST00000372073.1	37	CCDS14550.2	.	.	.	.	.	.	.	.	.	.	g	28.0	4.878780	0.91740	.	.	ENSG00000157600	ENST00000372073;ENST00000372068;ENST00000288381;ENST00000501872	T;T;T	0.69685	-0.42;-0.42;-0.42	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	D	0.82518	0.5054	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85012	0.0906	9	.	.	.	-0.5094	16.1046	0.81212	0.0:0.0:1.0:0.0	.	26;26	Q9H617;Q5U3C3	.;TM164_HUMAN	S	26	ENSP00000361143:G26S;ENSP00000361138:G26S;ENSP00000288381:G26S	.	G	+	1	0	TMEM164	109133734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.068000	0.93961	1.964000	0.57103	0.509000	0.49947	GGC		0.617	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	NM_032227	
TRPC5	7224	broad.mit.edu	37	X	111020011	111020011	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:111020011G>A	ENST00000262839.2	-	11	3370	c.2452C>T	c.(2452-2454)Cca>Tca	p.P818S		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	818					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.P818S(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGGACCTTGGCATGGTTCTG	0.498																																					p.P818S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2452T	X						.						143.0	131.0	135.0					X																	111020011		2203	4300	6503	110906667	SO:0001583	missense	7224	exon11			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2452C>T	X.37:g.111020011G>A	ENSP00000262839:p.Pro818Ser		110906667	NM_012471	B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	5.629	0.300815	0.10678	.	.	ENSG00000072315	ENST00000262839	T	0.65916	-0.18	5.71	3.8	0.43715	.	0.256618	0.32258	N	0.006343	T	0.19127	0.0459	N	0.00483	-1.445	0.30391	N	0.780969	B	0.06786	0.001	B	0.01281	0.0	T	0.41466	-0.9507	10	0.02654	T	1	-14.6775	3.0779	0.06253	0.2797:0.0:0.5065:0.2137	.	818	Q9UL62	TRPC5_HUMAN	S	818	ENSP00000262839:P818S	ENSP00000262839:P818S	P	-	1	0	TRPC5	110906667	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.692000	0.54727	2.404000	0.81709	0.600000	0.82982	CCA		0.498	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471	
ZCCHC16	340595	broad.mit.edu	37	X	111698858	111698858	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:111698858C>T	ENST00000340433.2	+	1	1132	c.902C>T	c.(901-903)cCg>cTg	p.P301L		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	301							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P301L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCTCGAGCTCCGGCAACGACA	0.473																																					p.P301L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C902T	X						.						39.0	37.0	38.0					X																	111698858		2203	4300	6503	111585514	SO:0001583	missense	340595	exon3			AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.902C>T	X.37:g.111698858C>T	ENSP00000340590:p.Pro301Leu		111585514	NM_001004308	B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.483769	0.01027	.	.	ENSG00000187823	ENST00000340433	T	0.35421	1.31	3.8	1.09	0.20402	Zinc finger, CCHC retroviral-type (1);	0.000000	0.37053	N	0.002276	T	0.25531	0.0621	L	0.46741	1.465	0.40486	D	0.980491	B	0.28850	0.225	B	0.25614	0.062	T	0.04840	-1.0923	10	0.45353	T	0.12	-2.4488	5.6708	0.17721	0.0:0.6289:0.0:0.3711	.	301	Q6ZR62	ZCH16_HUMAN	L	301	ENSP00000340590:P301L	ENSP00000340590:P301L	P	+	2	0	ZCCHC16	111585514	0.985000	0.35326	0.846000	0.33378	0.013000	0.08279	0.246000	0.18160	0.096000	0.17463	-0.295000	0.09555	CCG		0.473	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308	
ZBTB33	10009	broad.mit.edu	37	X	119388200	119388200	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:119388200G>A	ENST00000326624.2	+	2	1158	c.930G>A	c.(928-930)gtG>gtA	p.V310V	ZBTB33_ENST00000557385.1_Silent_p.V310V	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	310					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)	p.V310V(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						ATTTACTTGTGCAGAATCAGC	0.378																																					p.V310V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G930A	X						.						107.0	98.0	101.0					X																	119388200		2203	4300	6503	119272228	SO:0001819	synonymous_variant	10009	exon2			BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.930G>A	X.37:g.119388200G>A			119272228	NM_006777	B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Silent	SNP	ENST00000326624.2	37	CCDS14596.1																																																																																				0.378	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777	
ZDHHC9	51114	broad.mit.edu	37	X	128945382	128945382	+	Splice_Site	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:128945382C>A	ENST00000357166.6	-	9	1272	c.881G>T	c.(880-882)aGt>aTt	p.S294I	ZDHHC9_ENST00000371064.3_Splice_Site_p.S294I	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	294					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)	p.S294I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						CCCTGAGCACCTGGGGGGCAA	0.522																																					p.S294I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G881T	X						.						99.0	73.0	82.0					X																	128945382		2203	4300	6503	128773063	SO:0001630	splice_region_variant	51114	exon9			AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"""Zinc fingers, DHHC-type"""	18475	protein-coding gene	gene with protein product		300646	"""zinc finger, DHHC-type containing 10"", ""chromosome X open reading frame 11"""	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.881+1G>T	X.37:g.128945382C>A			128773063	NM_016032	B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Missense_Mutation	SNP	ENST00000357166.6	37	CCDS35395.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680586	0.88542	.	.	ENSG00000188706	ENST00000357166;ENST00000371064	T;T	0.48201	0.82;0.82	4.69	4.69	0.59074	.	0.342879	0.38326	N	0.001728	T	0.66567	0.2802	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.67348	-0.5693	9	.	.	.	-7.9314	16.6953	0.85334	0.0:1.0:0.0:0.0	.	294	Q9Y397	ZDHC9_HUMAN	I	294	ENSP00000349689:S294I;ENSP00000360103:S294I	.	S	-	2	0	ZDHHC9	128773063	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.445000	0.80570	2.304000	0.77564	0.594000	0.82650	AGT		0.522	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032	Missense_Mutation
ARHGAP36	158763	broad.mit.edu	37	X	130220560	130220560	+	Silent	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:130220560T>C	ENST00000276211.5	+	11	1752	c.1407T>C	c.(1405-1407)gaT>gaC	p.D469D	ARHGAP36_ENST00000370922.1_Silent_p.D457D|ARHGAP36_ENST00000370921.1_Silent_p.D333D	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	469					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.D469D(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGGAAGAGGATGCACTACTTT	0.468																																					p.D469D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1407C	X						.						117.0	101.0	106.0					X																	130220560		2203	4300	6503	130048241	SO:0001819	synonymous_variant	158763	exon11				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1407T>C	X.37:g.130220560T>C			130048241	NM_144967	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	ENST00000276211.5	37	CCDS14628.1																																																																																				0.468	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967	
DDX26B	203522	broad.mit.edu	37	X	134679422	134679422	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:134679422C>T	ENST00000370752.4	+	3	598	c.264C>T	c.(262-264)ctC>ctT	p.L88L	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	88	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.							p.L88L(1)		large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TGACTACTCTCGGTCAGGCTC	0.358																																					p.L88L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C264T	X						.						80.0	82.0	81.0					X																	134679422		2203	4300	6503	134507088	SO:0001819	synonymous_variant	203522	exon3			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.264C>T	X.37:g.134679422C>T			134507088	NM_182540	Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Silent	SNP	ENST00000370752.4	37	CCDS35401.1																																																																																				0.358	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540	
GPR101	83550	broad.mit.edu	37	X	136113520	136113520	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:136113520G>A	ENST00000298110.1	-	1	313	c.314C>T	c.(313-315)aCg>aTg	p.T105M		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.T105M(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					AACCAGGGCCGTGCAGAAGTG	0.612																																					p.T105M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C314T	X						.						65.0	51.0	56.0					X																	136113520		2202	4300	6502	135941186	SO:0001583	missense	83550	exon1			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.314C>T	X.37:g.136113520G>A	ENSP00000298110:p.Thr105Met		135941186	NM_054021	Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649616	0.47362	.	.	ENSG00000165370	ENST00000298110	T	0.19532	2.14	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.42245	0.1194	M	0.67700	2.07	0.28310	N	0.922704	D	0.76494	0.999	D	0.68483	0.958	T	0.31052	-0.9957	9	0.87932	D	0	-12.6415	10.6131	0.45434	0.0:0.1903:0.8097:0.0	.	105	Q96P66	GP101_HUMAN	M	105	ENSP00000298110:T105M	ENSP00000298110:T105M	T	-	2	0	GPR101	135941186	1.000000	0.71417	0.841000	0.33234	0.964000	0.63967	4.241000	0.58707	2.027000	0.59764	0.600000	0.82982	ACG		0.612	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1		
MAGEC2	51438	broad.mit.edu	37	X	141290687	141290687	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:141290687T>C	ENST00000247452.3	-	3	1434	c.1087A>G	c.(1087-1089)Agt>Ggt	p.S363G		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	363	Interaction with TRIM28.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.S363G(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GACATGACACTGAGGCTTTCA	0.488										HNSCC(46;0.14)																											p.S363G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1087G	X						.						148.0	122.0	131.0					X																	141290687		2203	4300	6503	141118353	SO:0001583	missense	51438	exon3			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.1087A>G	X.37:g.141290687T>C	ENSP00000354660:p.Ser363Gly		141118353	NM_016249	Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	2.496	-0.316321	0.05422	.	.	ENSG00000046774	ENST00000247452	T	0.02421	4.3	1.2	1.2	0.21068	.	.	.	.	.	T	0.02418	0.0074	L	0.43923	1.385	0.09310	N	1	B	0.32409	0.37	B	0.26094	0.066	T	0.45527	-0.9255	9	0.25106	T	0.35	.	4.2198	0.10552	0.0:0.0:0.0:1.0	.	363	Q9UBF1	MAGC2_HUMAN	G	363	ENSP00000354660:S363G	ENSP00000354660:S363G	S	-	1	0	MAGEC2	141118353	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.609000	0.05635	0.726000	0.32339	0.376000	0.23039	AGT		0.488	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249	
GPR50	9248	broad.mit.edu	37	X	150348632	150348632	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:150348632G>A	ENST00000218316.3	+	2	646	c.577G>A	c.(577-579)Gtc>Atc	p.V193I	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	193					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.V193I(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTACCATCGTCTGCATCCA	0.547																																					p.V193I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G577A	X						.						257.0	231.0	240.0					X																	150348632		2167	4241	6408	150099290	SO:0001583	missense	9248	exon2			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.577G>A	X.37:g.150348632G>A	ENSP00000218316:p.Val193Ile		150099290	NM_004224	Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289747	0.59976	.	.	ENSG00000102195	ENST00000535473;ENST00000218316	T	0.71579	-0.58	3.89	3.02	0.34903	GPCR, rhodopsin-like superfamily (1);	0.058936	0.64402	D	0.000002	T	0.73458	0.3589	M	0.78344	2.41	0.38581	D	0.95017	P;P	0.46512	0.879;0.877	P;B	0.47864	0.559;0.443	T	0.75241	-0.3387	10	0.49607	T	0.09	-27.9065	9.3356	0.38049	0.115:0.0:0.885:0.0	.	146;193	F5H1S3;Q13585	.;MTR1L_HUMAN	I	146;193	ENSP00000218316:V193I	ENSP00000218316:V193I	V	+	1	0	GPR50	150099290	1.000000	0.71417	0.999000	0.59377	0.758000	0.43043	7.456000	0.80751	0.765000	0.33221	-0.355000	0.07637	GTC		0.547	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224	
GABRE	2564	broad.mit.edu	37	X	151130966	151130966	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:151130966G>A	ENST00000370328.3	-	4	545	c.492C>T	c.(490-492)caC>caT	p.H164H	GABRE_ENST00000393914.3_De_novo_Start_InFrame|MIR452_ENST00000385020.1_RNA|GABRE_ENST00000370325.1_Silent_p.H164H	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	164					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.H51H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCTCATGCTCGTGGGTCCTCT	0.483													G|||	1	0.000264901	0.0	0.0	3775	,	,		14944	0.0		0.0	False		,,,				2504	0.001				p.H164H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C492T	X						.						139.0	103.0	115.0					X																	151130966		2203	4300	6503	150881622	SO:0001819	synonymous_variant	2564	exon4			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.492C>T	X.37:g.151130966G>A			150881622	NM_004961	E7ET93|O15345|O15346|Q6PCD2|Q99520	Silent	SNP	ENST00000370328.3	37	CCDS14703.1																																																																																				0.483	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984	
IDH3G	3421	broad.mit.edu	37	X	153055688	153055688	+	Silent	SNP	G	G	A	rs368952926		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:153055688G>A	ENST00000217901.5	-	4	391	c.195C>T	c.(193-195)atC>atT	p.I65I	IDH3G_ENST00000370093.1_Silent_p.I65I|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000427365.2_Silent_p.I7I|IDH3G_ENST00000370092.3_Silent_p.I65I	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	65					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.I65I(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCTGGCCCGATGCCATCCC	0.642																																					p.I65I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C195T	X						.						102.0	75.0	84.0					X																	153055688		2203	4300	6503	152708882	SO:0001819	synonymous_variant	3421	exon4				CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.195C>T	X.37:g.153055688G>A			152708882	NM_004135	E9PDD5|Q9BUU5	Silent	SNP	ENST00000217901.5	37	CCDS14730.1																																																																																				0.642	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061084.27		
SHROOM2	357	broad.mit.edu	37	X	9863764	9863764	+	Missense_Mutation	SNP	G	G	A	rs534169060		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:9863764G>A	ENST00000380913.3	+	4	1906	c.1816G>A	c.(1816-1818)Gcc>Acc	p.A606T		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	606					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)	p.A606T(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGAGGACAGCGCCACCAGACC	0.657													G|||	2	0.000529801	0.0	0.0	3775	,	,		11125	0.0		0.0	False		,,,				2504	0.002				p.A606T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1816A	X						.						14.0	17.0	16.0					X																	9863764		2188	4283	6471	9823764	SO:0001583	missense	357	exon4			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.1816G>A	X.37:g.9863764G>A	ENSP00000370299:p.Ala606Thr		9823764	NM_001649	B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	G	0.984	-0.696148	0.03279	.	.	ENSG00000146950	ENST00000380913	T	0.15603	2.41	4.63	-9.25	0.00666	.	2.130000	0.01874	N	0.037430	T	0.04363	0.0120	N	0.01874	-0.695	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.28038	-1.0056	10	0.10377	T	0.69	-0.2341	4.3584	0.11190	0.4193:0.1826:0.3251:0.0729	.	606	Q13796	SHRM2_HUMAN	T	606	ENSP00000370299:A606T	ENSP00000370299:A606T	A	+	1	0	SHROOM2	9823764	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.439000	0.00470	-1.574000	0.01657	-1.327000	0.01280	GCC		0.657	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649	
BMX	660	broad.mit.edu	37	X	15527528	15527528	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:15527528C>T	ENST00000357607.2	+	3	403	c.215C>T	c.(214-216)aCg>aTg	p.T72M	BMX_ENST00000342014.6_Missense_Mutation_p.T72M|BMX_ENST00000348343.6_Missense_Mutation_p.T72M|BMX_ENST00000463891.1_3'UTR			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	72	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.T72M(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GAGGAGCAGACGCCTGTAGAG	0.378																																					p.T72M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C215T	X						.						78.0	66.0	70.0					X																	15527528		2203	4299	6502	15437449	SO:0001583	missense	660	exon3			AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.215C>T	X.37:g.15527528C>T	ENSP00000350224:p.Thr72Met		15437449	NM_203281	A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	c	19.81	3.897382	0.72639	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.75821	-0.97;-0.97;-0.97	5.54	5.54	0.83059	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000004	T	0.81959	0.4933	L	0.52573	1.65	0.32738	N	0.508125	D	0.89917	1.0	D	0.73380	0.98	D	0.85866	0.1413	10	0.56958	D	0.05	.	13.7747	0.63046	0.0:1.0:0.0:0.0	.	72	P51813	BMX_HUMAN	M	72	ENSP00000350224:T72M;ENSP00000308774:T72M;ENSP00000340082:T72M	ENSP00000340082:T72M	T	+	2	0	BMX	15437449	0.967000	0.33354	0.980000	0.43619	0.977000	0.68977	1.835000	0.39181	2.321000	0.78463	0.597000	0.82753	ACG		0.378	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721	
ACE2	59272	broad.mit.edu	37	X	15591550	15591550	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:15591550T>C	ENST00000252519.3	-	11	1583	c.1481A>G	c.(1480-1482)gAt>gGt	p.D494G	ACE2_ENST00000427411.1_Missense_Mutation_p.D494G			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	494					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.D494G(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	GTATGTTTCATCATGGGGCAC	0.423																																					p.D494G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1481G	X						.						172.0	147.0	155.0					X																	15591550		2203	4300	6503	15501471	SO:0001583	missense	59272	exon12			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.1481A>G	X.37:g.15591550T>C	ENSP00000252519:p.Asp494Gly		15501471	NM_021804	C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688484	0.68271	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.35236	1.32;1.32	5.75	5.75	0.90469	.	0.048468	0.85682	D	0.000000	T	0.46678	0.1405	M	0.74389	2.26	0.46798	D	0.999201	P	0.35872	0.525	B	0.40940	0.344	T	0.50808	-0.8784	10	0.72032	D	0.01	-28.9284	15.0142	0.71570	0.0:0.0:0.0:1.0	.	494	Q9BYF1	ACE2_HUMAN	G	494	ENSP00000252519:D494G;ENSP00000389326:D494G	ENSP00000252519:D494G	D	-	2	0	ACE2	15501471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	1.928000	0.55862	0.486000	0.48141	GAT		0.423	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1		
ACE2	59272	broad.mit.edu	37	X	15596408	15596408	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:15596408G>A	ENST00000252519.3	-	9	1203	c.1101C>T	c.(1099-1101)gaC>gaT	p.D367D	ACE2_ENST00000427411.1_Silent_p.D367D			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	367					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.D367D(2)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	TCAGGAAGTCGTCCATTGTCA	0.408																																					p.D367D												.	.	2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	c.C1101T	X						.						93.0	75.0	81.0					X																	15596408		2203	4300	6503	15506329	SO:0001819	synonymous_variant	59272	exon10			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.1101C>T	X.37:g.15596408G>A			15506329	NM_021804	C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Silent	SNP	ENST00000252519.3	37	CCDS14169.1																																																																																				0.408	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1		
PHKA2	5256	broad.mit.edu	37	X	18943834	18943834	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:18943834G>A	ENST00000379942.4	-	15	2186	c.1521C>T	c.(1519-1521)acC>acT	p.T507T		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	507					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.T507T(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					ATAGTTTAGAGGTTCCAAGGA	0.393																																					p.T507T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1521T	X						.						186.0	169.0	175.0					X																	18943834		2203	4300	6503	18853755	SO:0001819	synonymous_variant	5256	exon15				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.1521C>T	X.37:g.18943834G>A			18853755	NM_000292	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	ENST00000379942.4	37	CCDS14190.1																																																																																				0.393	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292	
TAB3	257397	broad.mit.edu	37	X	30852223	30852223	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:30852223G>A	ENST00000378933.1	-	7	2112	c.1935C>T	c.(1933-1935)agC>agT	p.S645S	TAB3_ENST00000378930.3_Silent_p.S645S|TAB3_ENST00000378932.2_Silent_p.S617S|TAB3-AS1_ENST00000428263.1_RNA|TAB3_ENST00000288422.2_Silent_p.S645S	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	645					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.S645S(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TGGAGGTCACGCTAATTCTTC	0.468																																					p.S645S	Pancreas(164;1598 1985 29022 43301 49529)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1935T	X						.						221.0	168.0	186.0					X																	30852223		2202	4300	6502	30762144	SO:0001819	synonymous_variant	257397	exon10			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.1935C>T	X.37:g.30852223G>A			30762144	NM_152787	A6NDD9|Q6VQR0	Silent	SNP	ENST00000378933.1	37	CCDS14226.1																																																																																				0.468	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787	
FTHL17	53940	broad.mit.edu	37	X	31089872	31089872	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:31089872C>T	ENST00000359202.3	-	1	298	c.199G>A	c.(199-201)Gcc>Acc	p.A67T		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	67	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)	p.A67T(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						AGCTTCTGGGCATGCTCCATT	0.597																																					p.A67T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G199A	X						.						73.0	66.0	68.0					X																	31089872		2202	4300	6502	30999793	SO:0001583	missense	53940	exon1			AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.199G>A	X.37:g.31089872C>T	ENSP00000368207:p.Ala67Thr		30999793	NM_031894	Q6NT24|Q6NTE2	Missense_Mutation	SNP	ENST00000359202.3	37	CCDS14227.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509856	0.64522	.	.	ENSG00000132446	ENST00000359202	T	0.80304	-1.36	3.44	1.13	0.20643	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.184590	0.45867	N	0.000334	D	0.83811	0.5335	M	0.83312	2.635	0.31341	N	0.68364	D	0.54397	0.966	P	0.53722	0.733	T	0.82281	-0.0535	10	0.87932	D	0	.	6.3906	0.21585	0.0:0.6807:0.0:0.3193	.	67	Q9BXU8	FHL17_HUMAN	T	67	ENSP00000368207:A67T	ENSP00000368207:A67T	A	-	1	0	FTHL17	30999793	0.989000	0.36119	0.000000	0.03702	0.008000	0.06430	3.202000	0.51067	0.142000	0.18901	0.544000	0.68410	GCC		0.597	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894	
BCOR	54880	broad.mit.edu	37	X	39933665	39933665	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:39933665G>A	ENST00000378444.4	-	4	1162	c.934C>T	c.(934-936)Cag>Tag	p.Q312*	BCOR_ENST00000397354.3_Nonsense_Mutation_p.Q312*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.Q312*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.Q312*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	312					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q312*(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ACCCTGGGCTGCTTACTGTTC	0.632			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																														p.Q312X			Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C934T	X						.						29.0	26.0	27.0					X																	39933665		2201	4299	6500	39818609	SO:0001587	stop_gained	54880	exon4			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.934C>T	X.37:g.39933665G>A	ENSP00000367705:p.Gln312*		39818609	NM_001123383	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	ENST00000378444.4	37	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	37	6.140320	0.97320	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-21.7706	18.5854	0.91187	0.0:0.0:1.0:0.0	.	.	.	.	X	312	.	ENSP00000345923:Q312X	Q	-	1	0	BCOR	39818609	1.000000	0.71417	0.728000	0.30774	0.579000	0.36224	5.767000	0.68850	2.331000	0.79229	0.600000	0.82982	CAG		0.632	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745	
SLC9A7	84679	broad.mit.edu	37	X	46618244	46618244	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:46618244A>G	ENST00000328306.4	-	1	246	c.221T>C	c.(220-222)cTg>cCg	p.L74P		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	74					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)	p.L74P(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GAAGGTGAGCAGGCTCACGCT	0.657																																					p.L74P	Pancreas(118;454 1696 1930 13865 39976)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T221C	X						.						58.0	38.0	45.0					X																	46618244		2203	4300	6503	46503188	SO:0001583	missense	84679	exon1			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.221T>C	X.37:g.46618244A>G	ENSP00000330320:p.Leu74Pro		46503188	NM_032591	O75827|Q5JXP9	Missense_Mutation	SNP	ENST00000328306.4	37	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262483	0.80358	.	.	ENSG00000065923	ENST00000328306	T	0.63096	-0.02	4.63	4.63	0.57726	.	0.739405	0.12677	N	0.448284	T	0.75635	0.3876	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.75311	-0.3362	10	0.87932	D	0	.	13.2051	0.59790	1.0:0.0:0.0:0.0	.	74	Q96T83	SL9A7_HUMAN	P	74	ENSP00000330320:L74P	ENSP00000330320:L74P	L	-	2	0	SLC9A7	46503188	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.966000	0.87956	1.845000	0.53610	0.372000	0.22366	CTG		0.657	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591	
KCND1	3750	broad.mit.edu	37	X	48825998	48825998	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:48825998G>T	ENST00000218176.3	-	1	1978	c.681C>A	c.(679-681)ttC>ttA	p.F227L	KCND1_ENST00000376477.1_5'Flank	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	227					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)	p.F227L(1)		endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	AGGCCTGTGGGAAGCGTTCGC	0.607																																					p.F227L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C681A	X						.						26.0	24.0	25.0					X																	48825998		2203	4300	6503	48710942	SO:0001583	missense	3750	exon1			AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.681C>A	X.37:g.48825998G>T	ENSP00000218176:p.Phe227Leu		48710942	NM_004979	A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	CCDS14314.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723061	0.30503	.	.	ENSG00000102057	ENST00000218176	D	0.97089	-4.24	5.45	4.59	0.56863	.	0.061602	0.64402	D	0.000003	D	0.93871	0.8039	L	0.40543	1.245	0.37295	D	0.908444	B	0.25007	0.116	B	0.25987	0.065	D	0.91847	0.5488	10	0.49607	T	0.09	.	8.9052	0.35519	0.177:0.0:0.823:0.0	.	227	Q9NSA2	KCND1_HUMAN	L	227	ENSP00000218176:F227L	ENSP00000218176:F227L	F	-	3	2	KCND1	48710942	0.999000	0.42202	0.999000	0.59377	0.419000	0.31324	0.446000	0.21694	1.083000	0.41159	0.594000	0.82650	TTC		0.607	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979	
GPR173	54328	broad.mit.edu	37	X	53106815	53106815	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:53106815A>G	ENST00000332582.4	+	2	1503	c.1012A>G	c.(1012-1014)Att>Gtt	p.I338V		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	338					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)	p.I338V(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						CGTCAACCCAATTGTCTGCTT	0.617																																					p.I338V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1012G	X						.						68.0	54.0	59.0					X																	53106815		2203	4300	6503	53123540	SO:0001583	missense	54328	exon2			AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.1012A>G	X.37:g.53106815A>G	ENSP00000331600:p.Ile338Val		53123540	NM_018969	B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	37	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	A	3.090	-0.187129	0.06299	.	.	ENSG00000184194	ENST00000332582	T	0.40756	1.02	5.26	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.057656	0.64402	D	0.000003	T	0.33469	0.0864	L	0.42245	1.32	0.46609	D	0.99912	B	0.13594	0.008	B	0.29267	0.1	T	0.11542	-1.0583	10	0.21540	T	0.41	-9.0632	7.7092	0.28667	0.8995:0.0:0.1005:0.0	.	338	Q9NS66	GP173_HUMAN	V	338	ENSP00000331600:I338V	ENSP00000331600:I338V	I	+	1	0	GPR173	53123540	0.997000	0.39634	0.955000	0.39395	0.992000	0.81027	3.635000	0.54309	1.764000	0.52075	0.425000	0.28330	ATT		0.617	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969	
TSPYL2	64061	broad.mit.edu	37	X	53112277	53112277	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:53112277G>T	ENST00000375442.4	+	1	729	c.597G>T	c.(595-597)aaG>aaT	p.K199N		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	199	Arg-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)	p.K199N(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						agcagaggaaggtgaagaggg	0.572																																					p.K199N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G597T	X						.						66.0	46.0	53.0					X																	53112277		2203	4298	6501	53129002	SO:0001583	missense	64061	exon1			AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.597G>T	X.37:g.53112277G>T	ENSP00000364591:p.Lys199Asn		53129002	NM_022117	O94799|Q96DG7|Q9BZW6	Missense_Mutation	SNP	ENST00000375442.4	37	CCDS14350.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930910	0.34096	.	.	ENSG00000184205	ENST00000375442	T	0.25085	1.82	3.33	0.494	0.16884	.	0.325662	0.22320	N	0.061610	T	0.32071	0.0817	L	0.44542	1.39	0.22933	N	0.998543	D;D	0.71674	0.998;0.998	D;D	0.73708	0.981;0.981	T	0.09997	-1.0649	10	0.46703	T	0.11	-3.6036	2.6383	0.04964	0.2683:0.0:0.5045:0.2272	.	199;199	Q9H2G4;A8K8U7	TSYL2_HUMAN;.	N	199	ENSP00000364591:K199N	ENSP00000364591:K199N	K	+	3	2	TSPYL2	53129002	0.999000	0.42202	0.968000	0.41197	0.326000	0.28443	2.008000	0.40893	-0.009000	0.14296	-0.362000	0.07510	AAG		0.572	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1	NM_022117	
SMC1A	8243	broad.mit.edu	37	X	53432287	53432287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:53432287C>A	ENST00000322213.4	-	12	2075	c.1948G>T	c.(1948-1950)Gga>Tga	p.G650*	SMC1A_ENST00000375340.6_Nonsense_Mutation_p.G416*	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	650	Flexible hinge.				DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.G650*(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GAGATCACTCCTGACTTCTGG	0.527																																					p.G650X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1948T	X						.						50.0	43.0	45.0					X																	53432287		2203	4300	6503	53449012	SO:0001587	stop_gained	8243	exon12			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1948G>T	X.37:g.53432287C>A	ENSP00000323421:p.Gly650*		53449012	NM_006306	O14995|Q16351|Q2M228	Nonsense_Mutation	SNP	ENST00000322213.4	37	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	39	7.371917	0.98241	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	.	.	.	4.74	3.88	0.44766	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.4404	0.50094	0.0:0.9075:0.0:0.0925	.	.	.	.	X	650;416	.	ENSP00000323421:G650X	G	-	1	0	SMC1A	53449012	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.417000	0.80156	1.140000	0.42260	0.529000	0.55759	GGA		0.527	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306	
HUWE1	10075	broad.mit.edu	37	X	53589856	53589856	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:53589856G>A	ENST00000342160.3	-	52	7597	c.7140C>T	c.(7138-7140)gaC>gaT	p.D2380D	HUWE1_ENST00000262854.6_Silent_p.D2380D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2380	Glu-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.D2243D(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCATCAGCACGTCCTCTTGTG	0.547																																					p.D2380D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7140T	X						.						211.0	140.0	164.0					X																	53589856		2203	4300	6503	53606581	SO:0001819	synonymous_variant	10075	exon53			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7140C>T	X.37:g.53589856G>A			53606581	NM_031407	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	4.038	0.004552	0.07866	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.89	4.92	0.64577	.	.	.	.	.	T	0.48537	0.1505	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49103	-0.8974	4	.	.	.	.	3.9827	0.09501	0.3436:0.0:0.6564:0.0	.	.	.	.	C	1414	.	.	R	-	1	0	HUWE1	53606581	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.152000	0.42272	2.470000	0.83445	0.600000	0.82982	CGT		0.547	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
ZC3H12B	340554	broad.mit.edu	37	X	64708944	64708944	+	Missense_Mutation	SNP	G	G	A	rs187793111		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:64708944G>A	ENST00000338957.4	+	1	330	c.263G>A	c.(262-264)cGt>cAt	p.R88H	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.R77H	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	88							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.R77H(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGCCTAGATCGTCCAAGTTTC	0.498													G|||	1	0.000264901	0.0	0.0	3775	,	,		17187	0.001		0.0	False		,,,				2504	0.0				p.R88H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G263A	X						.						86.0	89.0	88.0					X																	64708944		2011	4162	6173	64625669	SO:0001583	missense	340554	exon1			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.263G>A	X.37:g.64708944G>A	ENSP00000340839:p.Arg88His		64625669	NM_001010888	B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	CCDS48131.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	10.61	1.398102	0.25205	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.26373	1.75;1.74	5.36	-3.6	0.04570	.	0.546453	0.19957	N	0.102286	T	0.16896	0.0406	L	0.29908	0.895	0.31307	N	0.68756	B	0.02656	0.0	B	0.04013	0.001	T	0.03259	-1.1055	10	0.39692	T	0.17	-12.8729	14.6526	0.68808	0.3079:0.0:0.6921:0.0	.	77	Q5HYM0	ZC12B_HUMAN	H	88;77;77	ENSP00000340839:R88H;ENSP00000408077:R77H	ENSP00000218172:R77H	R	+	2	0	ZC3H12B	64625669	0.780000	0.28664	0.141000	0.22245	0.899000	0.52679	0.507000	0.22675	-1.159000	0.02807	-0.315000	0.08773	CGT		0.498	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334	
DGAT2L6	347516	broad.mit.edu	37	X	69424253	69424253	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:69424253T>C	ENST00000333026.3	+	6	846	c.746T>C	c.(745-747)tTc>tCc	p.F249S		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	249					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)	p.F249S(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CAAAAAACCTTCCAGGACACA	0.498																																					p.F249S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T746C	X						.						71.0	63.0	66.0					X																	69424253		2203	4300	6503	69340978	SO:0001583	missense	347516	exon6			AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.746T>C	X.37:g.69424253T>C	ENSP00000328036:p.Phe249Ser		69340978	NM_198512	Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	T	5.563	0.288811	0.10513	.	.	ENSG00000184210	ENST00000333026	T	0.13196	2.61	4.25	1.56	0.23342	.	0.364645	0.25810	N	0.028151	T	0.06416	0.0165	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.29353	0.101	T	0.27640	-1.0068	10	0.87932	D	0	-11.5539	2.7471	0.05270	0.4114:0.1177:0.0:0.4709	.	249	Q6ZPD8	DG2L6_HUMAN	S	249	ENSP00000328036:F249S	ENSP00000328036:F249S	F	+	2	0	DGAT2L6	69340978	0.033000	0.19621	0.003000	0.11579	0.024000	0.10985	2.153000	0.42282	0.579000	0.29504	0.486000	0.48141	TTC		0.498	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512	
DLG3	1741	broad.mit.edu	37	X	69673621	69673621	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:69673621G>A	ENST00000374360.3	+	8	1513	c.1280G>A	c.(1279-1281)cGc>cAc	p.R427H	DLG3-AS1_ENST00000424211.1_RNA|DLG3_ENST00000194900.4_Missense_Mutation_p.R445H|DLG3_ENST00000542398.1_5'Flank|DLG3_ENST00000374355.3_Missense_Mutation_p.R90H|DLG3-AS1_ENST00000431103.1_RNA|RNU4-81P_ENST00000363561.1_RNA	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	427	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)	p.R427H(1)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGGGAGCTGCGCAGGGGAGAC	0.567																																					p.R427H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1280A	X						.						42.0	34.0	37.0					X																	69673621		2203	4300	6503	69590346	SO:0001583	missense	1741	exon8			U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1280G>A	X.37:g.69673621G>A	ENSP00000363480:p.Arg427His		69590346	NM_021120	B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305592	0.81247	.	.	ENSG00000082458	ENST00000194900;ENST00000374360;ENST00000374355	T;T;T	0.26957	1.7;1.7;1.7	3.99	3.99	0.46301	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.46034	0.1372	M	0.75884	2.315	0.80722	D	1	P;D	0.63046	0.466;0.992	B;P	0.60415	0.194;0.874	T	0.48422	-0.9037	9	.	.	.	.	14.2114	0.65767	0.0:0.0:1.0:0.0	.	90;427	Q5JUW6;Q92796	.;DLG3_HUMAN	H	445;427;90	ENSP00000194900:R445H;ENSP00000363480:R427H;ENSP00000363475:R90H	.	R	+	2	0	DLG3	69590346	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.130000	0.94437	1.986000	0.57962	0.292000	0.19580	CGC		0.567	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120	
GJB1	2705	broad.mit.edu	37	X	70444255	70444255	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:70444255C>T	ENST00000374022.3	+	2	793	c.698C>T	c.(697-699)tCg>tTg	p.S233L	GJB1_ENST00000361726.6_Missense_Mutation_p.S233L|GJB1_ENST00000374029.1_Missense_Mutation_p.S233L	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	233					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)|purine ribonucleotide transport (GO:0015868)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)	p.S233L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					CGCAAGGGCTCGGGCTTCGGC	0.607																																					p.S233L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C698T	X						.						25.0	20.0	21.0					X																	70444255		2203	4298	6501	70360980	SO:0001583	missense	2705	exon2			X04325	CCDS14408.1	Xq13.1	2014-09-17	2007-01-16		ENSG00000169562	ENSG00000169562		"""Ion channels / Gap junction proteins (connexins)"""	4283	protein-coding gene	gene with protein product	"""Charcot-Marie-Tooth neuropathy, X-linked"", ""connexin 32"""	304040	"""gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)"", ""gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)"", ""gap junction protein, beta 1, 32kDa (connexin 32)"""	CMTX1, CMTX		1319395	Standard	NM_000166		Approved	CX32	uc004dzf.3	P08034	OTTHUMG00000021797	ENST00000374022.3:c.698C>T	X.37:g.70444255C>T	ENSP00000363134:p.Ser233Leu		70360980	NM_000166	B2R8R2|D3DVV2|Q5U0S4	Missense_Mutation	SNP	ENST00000374022.3	37	CCDS14408.1	.	.	.	.	.	.	.	.	.	.	C	7.621	0.676920	0.14841	.	.	ENSG00000169562	ENST00000374029;ENST00000374022;ENST00000361726	D;D;D	0.97620	-4.46;-4.46;-4.46	4.9	4.9	0.64082	.	1.143170	0.06403	N	0.719254	D	0.94076	0.8101	N	0.24115	0.695	0.36473	D	0.867364	B	0.15719	0.014	B	0.08055	0.003	T	0.82078	-0.0635	10	0.21014	T	0.42	.	15.4331	0.75121	0.0:1.0:0.0:0.0	.	233	P08034	CXB1_HUMAN	L	233	ENSP00000363141:S233L;ENSP00000363134:S233L;ENSP00000354900:S233L	ENSP00000354900:S233L	S	+	2	0	GJB1	70360980	0.993000	0.37304	0.989000	0.46669	0.229000	0.25112	3.174000	0.50847	2.260000	0.74910	0.592000	0.82586	TCG		0.607	GJB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057133.1	NM_000166	
CXCR3	2833	broad.mit.edu	37	X	70837157	70837157	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:70837157G>A	ENST00000373693.3	-	2	232	c.165C>T	c.(163-165)ttC>ttT	p.F55F	CXCR3_ENST00000373691.4_Silent_p.F102F	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	55					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)	p.F55F(1)		breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					GGGCTGGCAGGAAGGCCCGGT	0.637																																					p.F55F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C165T	X						.						36.0	37.0	37.0					X																	70837157		2203	4296	6499	70753882	SO:0001819	synonymous_variant	2833	exon2			U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	4540	protein-coding gene	gene with protein product		300574	"""G protein-coupled receptor 9"""	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.165C>T	X.37:g.70837157G>A			70753882	NM_001504	B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Silent	SNP	ENST00000373693.3	37	CCDS14416.1																																																																																				0.637	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144141.1		
Unknown	0	broad.mit.edu	37	X	71379769	71379769	+	IGR	SNP	C	C	T	rs201014184		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:71379769C>T								BX119917.1 (7505 upstream) : PIN4 (21756 downstream)														p.D30D(2)									AAATTGCAGACGGGCTGCGCC	0.517																																					p.D30D												.	.	2	Substitution - coding silent(2)	large_intestine(1)|prostate(1)	c.C90T	X						.	C		1,3824		0,1,0,1626,571	75.0	69.0	71.0		90	0.5	0.0	X		71	3,6718		0,2,1,2426,1864	no	coding-synonymous	FLJ44635	NM_207422.2		0,3,1,4052,2435	TT,TC,T,CC,C		0.0446,0.0261,0.0379		30/141	71379769	4,10542	2198	4293	6491	71296494	SO:0001628	intergenic_variant	392490	exon2																															X.37:g.71379769C>T			71296494	NM_207422		Silent	SNP		37																																																																																				0	0.517								
KIAA2022	340533	broad.mit.edu	37	X	73963700	73963700	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:73963700G>A	ENST00000055682.6	-	3	1303	c.692C>T	c.(691-693)gCt>gTt	p.A231V		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	231					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.A231V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCTTTTCTGAGCCGGATCCTC	0.468																																					p.A231V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C692T	X						.						161.0	147.0	152.0					X																	73963700		2203	4298	6501	73880425	SO:0001583	missense	340533	exon3				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.692C>T	X.37:g.73963700G>A	ENSP00000055682:p.Ala231Val		73880425	NM_001008537	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574728	0.45902	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.37058	1.22;1.22	5.97	5.1	0.69264	.	0.401252	0.29544	N	0.011849	T	0.32675	0.0837	N	0.19112	0.55	0.36394	D	0.862682	B	0.33694	0.421	B	0.40199	0.322	T	0.43589	-0.9382	10	0.66056	D	0.02	-0.7037	16.2686	0.82603	0.0:0.129:0.871:0.0	.	231	Q5QGS0	K2022_HUMAN	V	231	ENSP00000362567:A231V;ENSP00000055682:A231V	ENSP00000055682:A231V	A	-	2	0	KIAA2022	73880425	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	7.623000	0.83113	1.257000	0.44085	0.600000	0.82982	GCT		0.468	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537	
ATP7A	538	broad.mit.edu	37	X	77264680	77264680	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:77264680G>A	ENST00000341514.6	+	7	1944	c.1789G>A	c.(1789-1791)Gtg>Atg	p.V597M	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.V597M	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	597	HMA 6. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)	p.V597M(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATACTGCTCCGTGGCCCTGGC	0.408																																					p.V597M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1789A	X						.						198.0	197.0	197.0					X																	77264680		2203	4296	6499	77151336	SO:0001583	missense	538	exon7			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1789G>A	X.37:g.77264680G>A	ENSP00000345728:p.Val597Met		77151336	NM_000052	B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.296176	0.60086	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.89552	-2.53;-2.53	5.1	5.1	0.69264	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);Heavy-metal-associated, conserved site (1);	0.077022	0.52532	D	0.000062	D	0.96334	0.8804	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97760	1.0220	10	0.87932	D	0	-14.7423	17.8115	0.88617	0.0:0.0:1.0:0.0	.	597;607	Q04656;Q59HD1	ATP7A_HUMAN;.	M	597;597;607	ENSP00000343026:V597M;ENSP00000345728:V597M	ENSP00000345728:V597M	V	+	1	0	ATP7A	77151336	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	9.420000	0.97426	2.138000	0.66242	0.462000	0.41574	GTG		0.408	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052	
POF1B	79983	broad.mit.edu	37	X	84614599	84614599	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:84614599G>A	ENST00000262753.4	-	4	539	c.394C>T	c.(394-396)Cca>Tca	p.P132S	POF1B_ENST00000373145.3_Missense_Mutation_p.P132S	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	132						tight junction (GO:0005923)		p.P132S(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GTGGTCTGTGGATATGTAGTA	0.318																																					p.P132S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C394T	X						.						154.0	139.0	144.0					X																	84614599		2203	4298	6501	84501255	SO:0001583	missense	79983	exon4			BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.394C>T	X.37:g.84614599G>A	ENSP00000262753:p.Pro132Ser		84501255	NM_024921	A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118489	0.56505	.	.	ENSG00000124429	ENST00000262753;ENST00000373145;ENST00000276124	T;T	0.10668	2.85;2.85	4.77	4.77	0.60923	.	0.000000	0.46442	D	0.000298	T	0.22627	0.0546	L	0.47716	1.5	0.32553	N	0.53208	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.08166	-1.0735	10	0.19590	T	0.45	.	11.9219	0.52797	0.0:0.0:1.0:0.0	.	132;132	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	S	132	ENSP00000262753:P132S;ENSP00000362238:P132S	ENSP00000262753:P132S	P	-	1	0	POF1B	84501255	1.000000	0.71417	0.999000	0.59377	0.705000	0.40729	3.974000	0.56852	2.199000	0.70637	0.506000	0.49869	CCA		0.318	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921	
PABPC5	140886	broad.mit.edu	37	X	90691133	90691133	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:90691133G>A	ENST00000312600.3	+	2	771	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	PABPC5_ENST00000373105.1_Missense_Mutation_p.R22Q|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	186						mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R186Q(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CCAGAAGAGCGGGCGGCTGAG	0.493																																					p.R186Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G557A	X						.						34.0	34.0	34.0					X																	90691133		2203	4300	6503	90577789	SO:0001583	missense	140886	exon2			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.557G>A	X.37:g.90691133G>A	ENSP00000308012:p.Arg186Gln		90577789	NM_080832	A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481630	0.84747	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.24350	2.0;1.86	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.48677	0.1513	M	0.70595	2.14	0.52501	D	0.999959	D	0.89917	1.0	D	0.71870	0.975	T	0.51442	-0.8705	10	0.87932	D	0	.	14.0714	0.64863	0.0:0.0:1.0:0.0	.	186	Q96DU9	PABP5_HUMAN	Q	22;186;154	ENSP00000362197:R22Q;ENSP00000308012:R186Q	ENSP00000308012:R186Q	R	+	2	0	PABPC5	90577789	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	7.422000	0.80217	2.495000	0.84180	0.600000	0.82982	CGG		0.493	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832	
NAP1L3	4675	broad.mit.edu	37	X	92927789	92927789	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:92927789C>T	ENST00000373079.3	-	1	778	c.515G>A	c.(514-516)aGc>aAc	p.S172N	FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000322139.4_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.S165N	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	172	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.S172N(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CTCATCACTGCTGAACTCCTC	0.453																																					p.S172N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G515A	X						.						82.0	66.0	71.0					X																	92927789		2203	4300	6503	92814445	SO:0001583	missense	4675	exon1				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.515G>A	X.37:g.92927789C>T	ENSP00000362171:p.Ser172Asn		92814445	NM_004538	B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014747	0.35511	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.34072	1.38	3.55	3.55	0.40652	.	0.176342	0.27572	N	0.018771	T	0.36138	0.0956	L	0.29908	0.895	0.23254	N	0.998037	D	0.63046	0.992	P	0.62435	0.902	T	0.12578	-1.0542	10	0.19147	T	0.46	.	6.1119	0.20106	0.0:0.8621:0.0:0.1379	.	172	Q99457	NP1L3_HUMAN	N	172;165	ENSP00000362171:S172N	ENSP00000362171:S172N	S	-	2	0	NAP1L3	92814445	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.714000	0.37961	2.052000	0.61016	0.529000	0.55759	AGC		0.453	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538	
DIAPH2	1730	broad.mit.edu	37	X	96203956	96203956	+	Missense_Mutation	SNP	G	G	A	rs201017046		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:96203956G>A	ENST00000324765.8	+	15	1879	c.1532G>A	c.(1531-1533)cGa>cAa	p.R511Q	DIAPH2_ENST00000373061.3_Missense_Mutation_p.R511Q|DIAPH2_ENST00000373049.4_Missense_Mutation_p.R511Q|DIAPH2_ENST00000355827.4_Missense_Mutation_p.R511Q|DIAPH2_ENST00000373054.4_Missense_Mutation_p.R507Q			O60879	DIAP2_HUMAN	diaphanous-related formin 2	511					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.R511Q(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTCACAGCTCGACAGGAAGCT	0.343													G|||	1	0.000264901	0.0	0.0	3775	,	,		13126	0.0		0.001	False		,,,				2504	0.0				p.R511Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1532A	X						.						58.0	54.0	55.0					X																	96203956		2203	4300	6503	96090612	SO:0001583	missense	1730	exon15			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1532G>A	X.37:g.96203956G>A	ENSP00000321348:p.Arg511Gln		96090612	NM_006729	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	CCDS14467.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	22.0	4.226627	0.79576	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.28255	2.95;1.62;2.95;2.95;2.95	4.76	4.76	0.60689	.	0.000000	0.64402	D	0.000008	T	0.59998	0.2235	M	0.86268	2.805	0.45354	D	0.998348	D;D	0.89917	1.0;0.999	D;D	0.79784	0.963;0.993	T	0.65409	-0.6175	10	0.44086	T	0.13	.	16.7857	0.85574	0.0:0.0:1.0:0.0	.	511;511	O60879;O60879-2	DIAP2_HUMAN;.	Q	511;507;511;511;511;518	ENSP00000362152:R511Q;ENSP00000362145:R507Q;ENSP00000348082:R511Q;ENSP00000362140:R511Q;ENSP00000321348:R511Q	ENSP00000321348:R511Q	R	+	2	0	DIAPH2	96090612	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	8.784000	0.91818	1.978000	0.57642	0.462000	0.41574	CGA		0.343	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309	
TSPAN6	7105	broad.mit.edu	37	X	99891620	99891620	+	Silent	SNP	G	G	A			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:99891620G>A	ENST00000373020.4	-	1	183	c.72C>T	c.(70-72)taC>taT	p.Y24Y	TSPAN6_ENST00000496771.1_5'UTR	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	24					negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039532)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)	p.Y24Y(1)		endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						AAATAAAAGTGTAGATTAGCA	0.587																																					p.Y24Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C72T	X						.						69.0	56.0	61.0					X																	99891620		2203	4300	6503	99778276	SO:0001819	synonymous_variant	7105	exon1			AF043906	CCDS14470.1, CCDS76001.1	Xq22	2013-02-14	2005-03-21	2005-03-21	ENSG00000000003	ENSG00000000003		"""Tetraspanins"""	11858	protein-coding gene	gene with protein product		300191	"""transmembrane 4 superfamily member 6"""	TM4SF6		9782095	Standard	NM_003270		Approved	T245, TSPAN-6	uc004ega.1	O43657	OTTHUMG00000022002	ENST00000373020.4:c.72C>T	X.37:g.99891620G>A			99778276	NM_003270	Q54A42|Q6IAN9	Silent	SNP	ENST00000373020.4	37	CCDS14470.1																																																																																				0.587	TSPAN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057483.1		
SMARCA1	6594	broad.mit.edu	37	X	128605193	128605193	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:128605193delT	ENST00000371122.4	-	20	2682	c.2553delA	c.(2551-2553)aaafs	p.K851fs	SMARCA1_ENST00000371121.3_Frame_Shift_Del_p.K839fs|SMARCA1_ENST00000371123.1_Frame_Shift_Del_p.K839fs	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	851					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.K851fs*33(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GTGTGAGAAGTTTTTCCTTTT	0.348																																					p.K851fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2553delA	X						.						132.0	120.0	124.0					X																	128605193		2203	4300	6503	128432874	SO:0001589	frameshift_variant	6594	exon20			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2553delA	X.37:g.128605193delT	ENSP00000360163:p.Lys851fs		128432874	NM_003069	Q5JV41|Q5JV42	Frame_Shift_Del	DEL	ENST00000371122.4	37	CCDS14612.1																																																																																				0.348	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069	
CCDC160	347475	broad.mit.edu	37	X	133378875	133378875	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:133378875delT	ENST00000517294.1	+	3	428	c.45delT	c.(43-45)cctfs	p.P15fs	CCDC160_ENST00000370809.4_Frame_Shift_Del_p.P15fs			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	15								p.F17fs*7(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						TGTTTACTCCTTTTTTTAGTG	0.383																																					p.P15fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.45delT	X						.						22.0	20.0	21.0					X																	133378875		1824	4074	5898	133206541	SO:0001589	frameshift_variant	347475	exon2			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.45delT	X.37:g.133378875delT	ENSP00000427951:p.Pro15fs		133206541	NM_001101357		Frame_Shift_Del	DEL	ENST00000517294.1	37	CCDS48171.1																																																																																				0.383	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377679.1	NM_001101357	
HCFC1	3054	broad.mit.edu	37	X	153216408	153216408	+	Silent	SNP	C	C	T			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:153216408C>T	ENST00000310441.7	-	23	6525	c.5559G>A	c.(5557-5559)aaG>aaA	p.K1853K	HCFC1_ENST00000354233.3_Silent_p.K1784K|HCFC1_ENST00000369984.4_Silent_p.K1898K	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1853	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.K1756K(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCTCCTGCTTCTTCAGCT	0.567																																					p.K1853K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5559A	X						.						116.0	127.0	124.0					X																	153216408		2047	4160	6207	152869602	SO:0001819	synonymous_variant	3054	exon23				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.5559G>A	X.37:g.153216408C>T			152869602	NM_005334	Q6P4G5	Silent	SNP	ENST00000310441.7	37	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.523134	0.27211	.	.	ENSG00000172534	ENST00000444191	.	.	.	5.64	3.88	0.44766	.	.	.	.	.	T	0.61578	0.2358	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56619	-0.7949	4	.	.	.	.	10.8597	0.46819	0.0:0.8407:0.0:0.1593	.	.	.	.	T	429	.	.	A	-	1	0	HCFC1	152869602	0.870000	0.30015	1.000000	0.80357	0.991000	0.79684	-0.000000	0.12993	0.577000	0.29470	0.521000	0.50471	GCA		0.567	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334	
FLNA	2316	broad.mit.edu	37	X	153577928	153577928	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:153577928delG	ENST00000369850.3	-	47	7794	c.7558delC	c.(7558-7560)cgtfs	p.R2520fs	FLNA_ENST00000369856.3_Frame_Shift_Del_p.R653fs|FLNA_ENST00000422373.1_Frame_Shift_Del_p.R2512fs|FLNA_ENST00000360319.4_Frame_Shift_Del_p.R2512fs|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000344736.4_Frame_Shift_Del_p.R2480fs	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2520	Hinge 2.|Self-association site, tail.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.R2520fs*16(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGACGAGACGGGGGCCTGCA	0.637																																					p.R2512fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.7534delC	X						.						53.0	62.0	59.0					X																	153577928		2049	4175	6224	153231122	SO:0001589	frameshift_variant	2316	exon46			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.7558delC	X.37:g.153577928delG	ENSP00000358866:p.Arg2520fs		153231122	NM_001456	E9KL45|Q5HY53|Q5HY55|Q8NF52	Frame_Shift_Del	DEL	ENST00000369850.3	37	CCDS48194.1																																																																																				0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		
RBM10	8241	broad.mit.edu	37	X	47030467	47030469	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	GGC	GGC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:47030467_47030469delGGC	ENST00000377604.3	+	4	984_986	c.242_244delGGC	c.(241-246)aggcgg>agg	p.81_82RR>R	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	81	Poly-Arg.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.R85delR(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ACTCAGCGTAGGCGGCGGCGGCG	0.68																																					p.81_82del	Melanoma(171;120 2705 19495 39241)											.	.	1	Deletion - In frame(1)	large_intestine(1)	c.242_244del	X						.		,,,,	44,3546		4,27,9,1518,483					,,,,	3.8	1.0			15	76,6190		7,32,30,2270,1618	no	intron,coding,coding,coding,intron	RBM10	NM_152856.2,NM_005676.4,NM_001204468.1,NM_001204467.1,NM_001204466.1	,,,,	11,59,39,3788,2101	A1A1,A1R,A1,RR,R		1.2129,1.2256,1.2175	,,,,	,,,,		120,9736				46915413	SO:0001651	inframe_deletion	8241	exon4			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.242_244delGGC	X.37:g.47030476_47030478delGGC	ENSP00000366829:p.Arg85del		46915411	NM_005676	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL	ENST00000377604.3	37	CCDS14274.1																																																																																				0.680	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676	
SLC35A2	7355	broad.mit.edu	37	X	48762125	48762130	+	In_Frame_Del	DEL	GAGGCA	GAGGCA	-	rs56111636		TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	GAGGCA	GAGGCA	GAGGCA	-	GAGGCA	GAGGCA	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:48762125_48762130delGAGGCA	ENST00000247138.5	-	4	1059_1064	c.1056_1061delTGCCTC	c.(1054-1062)tctgcctcc>tcc	p.352_354SAS>S	SLC35A2_ENST00000376529.3_In_Frame_Del_p.CL156del|SLC35A2_ENST00000376515.3_In_Frame_Del_p.CL132del|SLC35A2_ENST00000445167.2_In_Frame_Del_p.CL156del|SLC35A2_ENST00000413561.2_In_Frame_Del_p.291_293SAS>S|SLC35A2_ENST00000376521.1_In_Frame_Del_p.352_354SAS>S|SLC35A2_ENST00000452555.2_In_Frame_Del_p.380_382SAS>S	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	352					galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)	p.A355_S356delAS(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						CCCGGAGGCGGAGGCAGAGGCAGAGG	0.636																																					p.352_354del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.1056_1061del	X						.																																			48647074	SO:0001651	inframe_deletion	7355	exon4			D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"""Solute carriers"""	11022	protein-coding gene	gene with protein product		314375	"""solute carrier family 35 (UDP-galactose transporter), member 2"""	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.1056_1061delTGCCTC	X.37:g.48762131_48762136delGAGGCA	ENSP00000247138:p.Ser354_Ala355del		48647069	NM_001042498	A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	In_Frame_Del	DEL	ENST00000247138.5	37	CCDS14311.1																																																																																				0.636	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	NM_005660	
RPS6KA6	27330	broad.mit.edu	37	X	83403063	83403063	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A022-01A-21W-A096-10	TCGA-AA-A022-11A-11W-A096-10	g.chrX:83403063delT	ENST00000262752.2	-	4	334	c.327delA	c.(325-327)aaafs	p.K109fs	RPS6KA6_ENST00000543399.1_Frame_Shift_Del_p.K109fs	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	109	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A110fs*3(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTAAAGAGGCTTTTTTTAACA	0.303																																					p.K109fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.327delA	X						.						38.0	34.0	36.0					X																	83403063		2201	4295	6496	83289719	SO:0001589	frameshift_variant	27330	exon4			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.327delA	X.37:g.83403063delT	ENSP00000262752:p.Lys109fs		83289719	NM_014496	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Frame_Shift_Del	DEL	ENST00000262752.2	37	CCDS14451.1																																																																																				0.303	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496	
