#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
SLC25A28	81894	broad.mit.edu	37	10	101371037	101371037	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr10:101371037C>T	ENST00000370495.4	-	4	692	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	222					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.G222R(1)		endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		TAAAAGGCCCCGGCCCCTTCA	0.527																																					p.G222R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G664A	10						.						72.0	74.0	73.0					10																	101371037		2021	4156	6177	101361027	SO:0001583	missense	81894	exon4			AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"""Solute carriers"""	23472	protein-coding gene	gene with protein product	"""mitoferrin 2"""	609767	"""solute carrier family 25, member 28"""			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.664G>A	10.37:g.101371037C>T	ENSP00000359526:p.Gly222Arg		101361027	NM_031212	Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Missense_Mutation	SNP	ENST00000370495.4	37	CCDS41559.1	.	.	.	.	.	.	.	.	.	.	C	9.872	1.199277	0.22121	.	.	ENSG00000155287	ENST00000434701;ENST00000370495	T;T	0.75154	-0.91;-0.91	5.41	4.48	0.54585	Mitochondrial carrier domain (2);	0.294753	0.37483	N	0.002062	T	0.57036	0.2026	N	0.10837	0.055	0.43226	D	0.995112	B	0.20780	0.048	B	0.20767	0.031	T	0.51710	-0.8671	10	0.22706	T	0.39	-53.8261	16.1592	0.81686	0.0:0.8666:0.1334:0.0	.	222	Q96A46	MFRN2_HUMAN	R	83;222	ENSP00000399102:G83R;ENSP00000359526:G222R	ENSP00000359526:G222R	G	-	1	0	SLC25A28	101361027	0.972000	0.33761	0.987000	0.45799	0.998000	0.95712	2.858000	0.48356	1.470000	0.48102	0.561000	0.74099	GGG		0.527	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1	NM_031212	
SLK	9748	broad.mit.edu	37	10	105780351	105780351	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr10:105780351C>T	ENST00000369755.3	+	17	3972	c.3427C>T	c.(3427-3429)Cgc>Tgc	p.R1143C	SLK_ENST00000335753.4_Missense_Mutation_p.R1112C	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1143					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.R1143C(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)		AGCCAATGTCCGCGAACTGCA	0.483																																					p.R1143C	NSCLC(111;540 1651 1927 4474 17706)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3427T	10						.						79.0	77.0	78.0					10																	105780351		2203	4300	6503	105770341	SO:0001583	missense	9748	exon17				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.3427C>T	10.37:g.105780351C>T	ENSP00000358770:p.Arg1143Cys		105770341	NM_014720	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815125	0.50527	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.32753	1.44;1.44	5.48	4.56	0.56223	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.62191	-0.6906	10	0.87932	D	0	.	13.777	0.63059	0.3334:0.6666:0.0:0.0	.	1112;1143	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	C	1112;1143	ENSP00000336824:R1112C;ENSP00000358770:R1143C	ENSP00000336824:R1112C	R	+	1	0	SLK	105770341	0.700000	0.27796	0.463000	0.27130	0.306000	0.27790	0.461000	0.21940	1.272000	0.44329	0.650000	0.86243	CGC		0.483	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720	
MYPN	84665	broad.mit.edu	37	10	69961687	69961687	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr10:69961687C>T	ENST00000358913.5	+	18	4083	c.3595C>T	c.(3595-3597)Ccc>Tcc	p.P1199S	MYPN_ENST00000540630.1_Missense_Mutation_p.P1199S|MYPN_ENST00000354393.2_Missense_Mutation_p.P924S	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1199	Ig-like 5.|Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.P1199S(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GATAGGCATGCCCCCACCTGT	0.557																																					p.P1199S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3595T	10						.						144.0	129.0	134.0					10																	69961687		2203	4300	6503	69631693	SO:0001583	missense	84665	exon18			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3595C>T	10.37:g.69961687C>T	ENSP00000351790:p.Pro1199Ser		69631693	NM_032578	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	33	5.230065	0.95207	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.73897	-0.79;-0.79;-0.79	5.22	5.22	0.72569	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90734	0.7092	H	0.95260	3.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	D	0.93463	0.6812	9	.	.	.	.	18.7819	0.91937	0.0:1.0:0.0:0.0	.	1199;924;1199	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	S	924;924;1199;1199	ENSP00000346369:P924S;ENSP00000351790:P1199S;ENSP00000441668:P1199S	.	P	+	1	0	MYPN	69631693	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.699000	0.84547	2.428000	0.82296	0.650000	0.86243	CCC		0.557	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578	
TCF7L2	6934	broad.mit.edu	37	10	114903722	114903722	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr10:114903722T>G	ENST00000355995.4	+	7	1233	c.726T>G	c.(724-726)taT>taG	p.Y242*	TCF7L2_ENST00000545257.1_Nonsense_Mutation_p.Y242*|TCF7L2_ENST00000534894.1_Nonsense_Mutation_p.Y242*|TCF7L2_ENST00000369397.4_Nonsense_Mutation_p.Y219*|TCF7L2_ENST00000369395.1_Nonsense_Mutation_p.Y267*|TCF7L2_ENST00000542695.1_De_novo_Start_OutOfFrame|TCF7L2_ENST00000536810.1_Nonsense_Mutation_p.Y242*|TCF7L2_ENST00000543371.1_Nonsense_Mutation_p.Y242*|TCF7L2_ENST00000369389.1_De_novo_Start_OutOfFrame|TCF7L2_ENST00000355717.4_Nonsense_Mutation_p.Y266*|TCF7L2_ENST00000538897.1_Nonsense_Mutation_p.Y242*|TCF7L2_ENST00000349937.2_Nonsense_Mutation_p.Y242*|TCF7L2_ENST00000352065.5_Nonsense_Mutation_p.Y219*			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	242	Mediates interaction with MAD2L2.|Pro-rich.				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.Y242*(1)|p.Y266*(1)|p.Y219*(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)		TATCCCCGTATTACCCACTAT	0.473			T	VTI1A	colorectal																																p.Y219X			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.T657G	10						.						82.0	72.0	75.0					10																	114903722		2203	4300	6503	114893712	SO:0001587	stop_gained	6934	exon6			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.726T>G	10.37:g.114903722T>G	ENSP00000348274:p.Tyr242*		114893712	NM_001146284	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Nonsense_Mutation	SNP	ENST00000355995.4	37		.	.	.	.	.	.	.	.	.	.	t	42	9.776200	0.99261	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000349937;ENST00000352065;ENST00000369395	.	.	.	5.12	0.0305	0.14167	.	0.124795	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0351	9.2972	0.37822	0.0:0.2766:0.0:0.7234	.	.	.	.	X	242;242;242;242;266;242;242;219;242;219;267	.	ENSP00000298692:Y242X	Y	+	3	2	TCF7L2	114893712	0.988000	0.35896	0.997000	0.53966	0.997000	0.91878	0.187000	0.16998	-0.172000	0.10779	0.533000	0.62120	TAT		0.473	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756	
PHLDB1	23187	broad.mit.edu	37	11	118516200	118516201	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	-	-	-	-	-	-	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr11:118516200_118516201insC	ENST00000361417.2	+	17	3659_3660	c.3248_3249insC	c.(3247-3252)ttccccfs	p.FP1083fs	PHLDB1_ENST00000524713.1_Frame_Shift_Ins_p.FP226fs|PHLDB1_ENST00000527898.1_Frame_Shift_Ins_p.FP134fs|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Frame_Shift_Ins_p.FP1036fs	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1083										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCCTCGGGCTTCCCCCCTCTCA	0.663																																					p.F1036fs												.	.	0			c.3107_3108insC	11						.																																			118021411	SO:0001589	frameshift_variant	23187	exon15				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3254dupC	11.37:g.118516206_118516206dupC	ENSP00000354498:p.Phe1083fs		118021410	NM_001144759	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Frame_Shift_Ins	INS	ENST00000361417.2	37	CCDS8401.1																																																																																				0.663	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157	
OR56A1	120796	broad.mit.edu	37	11	6048685	6048685	+	Missense_Mutation	SNP	C	C	T	rs371652828		TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr11:6048685C>T	ENST00000316650.5	-	1	286	c.250G>A	c.(250-252)Gtc>Atc	p.V84I		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V84I(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)		TTGGGGATGACGGTGAGGCAG	0.572																																					p.V84I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G250A	11						.	C	ILE/VAL	1,4401	2.1+/-5.4	0,1,2200	90.0	82.0	85.0		250	1.2	0.6	11		85	0,8592		0,0,4296	no	missense	OR56A1	NM_001001917.2	29	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	84/319	6048685	1,12993	2201	4296	6497	6005261	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.250G>A	11.37:g.6048685C>T	ENSP00000321246:p.Val84Ile		6005261	NM_001001917	B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	C	7.085	0.570961	0.13623	2.27E-4	0.0	ENSG00000180934	ENST00000316650	T	0.01406	4.93	4.16	1.22	0.21188	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38381	N	0.001707	T	0.01489	0.0048	N	0.02854	-0.475	0.09310	N	1	D	0.60575	0.988	P	0.59221	0.854	T	0.52939	-0.8508	10	0.72032	D	0.01	.	8.1102	0.30909	0.0:0.6407:0.0:0.3593	.	84	Q8NGH5	O56A1_HUMAN	I	84	ENSP00000321246:V84I	ENSP00000321246:V84I	V	-	1	0	OR56A1	6005261	0.000000	0.05858	0.595000	0.28798	0.779000	0.44077	0.020000	0.13466	0.156000	0.19299	-0.136000	0.14681	GTC		0.572	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917	
CD44	960	broad.mit.edu	37	11	35198146	35198146	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr11:35198146C>T	ENST00000428726.2	+	2	215	c.92C>T	c.(91-93)gCa>gTa	p.A31V	CD44_ENST00000415148.2_Missense_Mutation_p.A31V|CD44_ENST00000263398.6_Missense_Mutation_p.A31V|CD44_ENST00000352818.4_Missense_Mutation_p.A31V|CD44_ENST00000360158.4_Missense_Mutation_p.A31V|CD44_ENST00000526669.2_Missense_Mutation_p.A31V|CD44_ENST00000526025.1_Missense_Mutation_p.A31V|CD44_ENST00000278386.6_Missense_Mutation_p.A31V|CD44_ENST00000449691.2_Missense_Mutation_p.A31V|CD44_ENST00000437706.2_Missense_Mutation_p.A31V|CD44_ENST00000433892.2_Missense_Mutation_p.A31V|CD44_ENST00000434472.2_Missense_Mutation_p.A31V|CD44_ENST00000433354.2_Missense_Mutation_p.A31V	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	31					blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.A31V(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	TGCCGCTTTGCAGGTGTATTC	0.438																																					p.A31V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C92T	11						.						42.0	44.0	43.0					11																	35198146		2202	4298	6500	35154722	SO:0001583	missense	960	exon2			M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.92C>T	11.37:g.35198146C>T	ENSP00000398632:p.Ala31Val		35154722	NM_001001389	A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	CCDS7897.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027645	0.35797	.	.	ENSG00000026508	ENST00000263398;ENST00000526025;ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000360158;ENST00000428726;ENST00000433892;ENST00000278386;ENST00000434472;ENST00000352818;ENST00000525211;ENST00000526669;ENST00000526000	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95	5.85	3.99	0.46301	C-type lectin fold (1);Link (1);	0.342965	0.30285	N	0.009976	T	0.28764	0.0713	M	0.69358	2.11	0.09310	N	1	D;P;D;P;P;P;P	0.89917	1.0;0.938;0.994;0.84;0.789;0.639;0.689	D;P;D;P;P;B;B	0.75020	0.985;0.45;0.973;0.616;0.68;0.27;0.389	T	0.05115	-1.0905	10	0.48119	T	0.1	-19.5347	12.4887	0.55886	0.4392:0.5608:0.0:0.0	.	31;31;31;31;31;31;31	B6EAT9;P16070-11;O95370;P16070-12;P16070-10;P16070-4;P16070	.;.;.;.;.;.;CD44_HUMAN	V	31;31;31;31;31;31;31;31;31;31;31;31;10;10;9	ENSP00000263398:A31V;ENSP00000435377:A31V;ENSP00000389830:A31V;ENSP00000414567:A31V;ENSP00000391008:A31V;ENSP00000403990:A31V;ENSP00000353280:A31V;ENSP00000398632:A31V;ENSP00000392331:A31V;ENSP00000278386:A31V;ENSP00000404447:A31V;ENSP00000309732:A31V;ENSP00000432405:A10V;ENSP00000434465:A9V	ENSP00000263398:A31V	A	+	2	0	CD44	35154722	0.357000	0.24938	0.016000	0.15963	0.105000	0.19272	0.829000	0.27449	0.816000	0.34421	-0.268000	0.10319	GCA		0.438	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610	
HSD17B12	51144	broad.mit.edu	37	11	43702380	43702380	+	Start_Codon_Del	DEL	G	G	-			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr11:43702380delG	ENST00000278353.4	+	0	122				HSD17B12_ENST00000529261.1_Intron|HSD17B12_ENST00000395700.4_Start_Codon_Del	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12						cellular lipid metabolic process (GO:0044255)|estrogen biosynthetic process (GO:0006703)|extracellular matrix organization (GO:0030198)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cell-substrate adhesion (GO:0010811)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|heparin binding (GO:0008201)	p.E2fs*21(1)		endometrium(2)|large_intestine(4)|lung(4)	10						GGAAAGCCATGGAGAGCGCTC	0.612																																					p.M1fs	Ovarian(58;548 1143 13948 16572 34258)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3delG	11						.						49.0	55.0	53.0					11																	43702380		2203	4300	6503	43658956	SO:0001582	initiator_codon_variant	51144	exon1			AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18646	protein-coding gene	gene with protein product	"""3-ketoacyl-CoA reductase"", ""short chain dehydrogenase/reductase family 12C, member 1"""	609574				12482854, 19027726	Standard	NM_016142		Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0			11.37:g.43702380delG			43658956	NM_016142	A8K9B0|D3DR23|Q96EA9|Q96JU2|Q9Y6G8	Frame_Shift_Del	DEL	ENST00000278353.4	37	CCDS7905.1																																																																																				0.612	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389594.1		
AMBRA1	55626	broad.mit.edu	37	11	46419177	46419177	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr11:46419177delC	ENST00000458649.2	-	18	4138	c.3720delG	c.(3718-3720)gggfs	p.G1240fs	AMBRA1_ENST00000298834.3_Frame_Shift_Del_p.G1180fs|AMBRA1_ENST00000534300.1_Frame_Shift_Del_p.G1180fs|AMBRA1_ENST00000426438.1_Frame_Shift_Del_p.G1211fs|AMBRA1_ENST00000314845.3_Frame_Shift_Del_p.G1150fs|AMBRA1_ENST00000533727.1_Frame_Shift_Del_p.G1121fs|AMBRA1_ENST00000528950.1_Frame_Shift_Del_p.G1211fs			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1240					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)		p.R1241fs*32(1)|p.R1151fs*32(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TTGGCTCCCGCCCAGGGGTAC	0.672																																					p.G1150fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.3450delG	11						.						55.0	58.0	57.0					11																	46419177		2202	4298	6500	46375753	SO:0001589	frameshift_variant	55626	exon19			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3720delG	11.37:g.46419177delC	ENSP00000415327:p.Gly1240fs		46375753	NM_017749	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Frame_Shift_Del	DEL	ENST00000458649.2	37																																																																																					0.672	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749	
OR4A15	81328	broad.mit.edu	37	11	55135856	55135856	+	Missense_Mutation	SNP	G	G	A	rs138616202		TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr11:55135856G>A	ENST00000314706.3	+	1	497	c.497G>A	c.(496-498)cGt>cAt	p.R166H		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R166H(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ACCATGAATCGTCGAGTCTGT	0.443																																					p.R166H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G497A	11						.						231.0	209.0	217.0					11																	55135856		2201	4296	6497	54892432	SO:0001583	missense	81328	exon1			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.497G>A	11.37:g.55135856G>A	ENSP00000325065:p.Arg166His		54892432	NM_001005275	Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	G	2.355	-0.348039	0.05208	.	.	ENSG00000181958	ENST00000314706	T	0.01215	5.16	3.48	-3.71	0.04424	GPCR, rhodopsin-like superfamily (1);	0.152917	0.30501	N	0.009498	T	0.00967	0.0032	L	0.41573	1.285	0.09310	N	1	B	0.25105	0.118	B	0.18561	0.022	T	0.44128	-0.9348	10	0.48119	T	0.1	.	5.9777	0.19389	0.3156:0.0:0.5517:0.1327	.	166	Q8NGL6	O4A15_HUMAN	H	166	ENSP00000325065:R166H	ENSP00000325065:R166H	R	+	2	0	OR4A15	54892432	0.000000	0.05858	0.005000	0.12908	0.010000	0.07245	-3.011000	0.00647	-0.662000	0.05338	-0.454000	0.05498	CGT		0.443	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275	
DLG2	1740	broad.mit.edu	37	11	83770429	83770429	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr11:83770429C>T	ENST00000532653.1	-	6	835	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000543673.1_Missense_Mutation_p.R283Q|DLG2_ENST00000398301.2_Missense_Mutation_p.R217Q|DLG2_ENST00000330014.6_Missense_Mutation_p.R117Q|DLG2_ENST00000398309.2_Missense_Mutation_p.R178Q|DLG2_ENST00000280241.8_Missense_Mutation_p.R217Q|DLG2_ENST00000418306.2_Missense_Mutation_p.R127Q|DLG2_ENST00000531015.1_Missense_Mutation_p.R145Q|DLG2_ENST00000376104.2_Missense_Mutation_p.R283Q|DLG2_ENST00000524982.1_Missense_Mutation_p.R178Q|DLG2_ENST00000376106.3_5'UTR			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.R178Q(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)				CACATACAGCCGAACGATAGA	0.453																																					p.R127Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G380A	11						.						131.0	121.0	124.0					11																	83770429		1940	4149	6089	83448077	SO:0001583	missense	1740	exon4			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.533G>A	11.37:g.83770429C>T	ENSP00000435849:p.Arg178Gln		83448077	NM_001142700	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	C	28.2	4.897031	0.91962	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301;ENST00000398299	T;T;T;T;T;T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74	5.24	5.24	0.73138	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000013	T	0.41488	0.1161	L	0.41906	1.305	0.80722	D	1	D;P;D;P;D;D;P;D	0.89917	0.999;0.811;0.992;0.946;1.0;0.995;0.735;0.999	D;B;P;B;D;P;B;P	0.63957	0.92;0.133;0.639;0.114;0.911;0.621;0.243;0.87	T	0.07947	-1.0746	9	.	.	.	.	18.8105	0.92056	0.0:1.0:0.0:0.0	.	145;178;178;117;217;283;178;127	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	Q	178;283;127;283;217;117;178;178;283;145;217;95	ENSP00000381355:R178Q;ENSP00000365272:R283Q;ENSP00000402275:R127Q;ENSP00000441994:R283Q;ENSP00000280241:R217Q;ENSP00000381353:R117Q;ENSP00000432894:R178Q;ENSP00000435849:R178Q;ENSP00000433848:R145Q;ENSP00000381346:R217Q;ENSP00000381344:R95Q	.	R	-	2	0	DLG2	83448077	1.000000	0.71417	0.730000	0.30809	0.972000	0.66771	4.666000	0.61554	2.438000	0.82558	0.467000	0.42956	CGG		0.453	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364	
FAT3	120114	broad.mit.edu	37	11	92564835	92564835	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr11:92564835G>T	ENST00000298047.6	+	13	9546	c.9529G>T	c.(9529-9531)Gtc>Ttc	p.V3177F	FAT3_ENST00000525166.1_Missense_Mutation_p.V3027F|FAT3_ENST00000409404.2_Missense_Mutation_p.V3177F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3177	Cadherin 29. {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.V3177F(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)				AGCTGGTGGGGTCTTCTCCAT	0.552										TCGA Ovarian(4;0.039)																											p.V3177F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G9529T	11						.						58.0	62.0	60.0					11																	92564835		2150	4242	6392	92204483	SO:0001583	missense	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.9529G>T	11.37:g.92564835G>T	ENSP00000298047:p.Val3177Phe		92204483	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	3.517	-0.098641	0.07010	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.02812	4.15;4.15;4.15	5.18	0.0707	0.14379	.	.	.	.	.	T	0.01421	0.0046	N	0.11023	0.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49283	-0.8956	9	0.09084	T	0.74	.	4.5148	0.11930	0.1119:0.0716:0.4479:0.3686	.	3177	Q8TDW7-3	.	F	3177;3177;3027	ENSP00000298047:V3177F;ENSP00000387040:V3177F;ENSP00000432586:V3027F	ENSP00000298047:V3177F	V	+	1	0	FAT3	92204483	0.732000	0.28121	0.068000	0.19968	0.902000	0.53008	1.128000	0.31369	-0.159000	0.11021	0.655000	0.94253	GTC		0.552	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
HINFP	25988	broad.mit.edu	37	11	119003857	119003857	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr11:119003857G>A	ENST00000350777.2	+	9	1130	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	HINFP_ENST00000527410.1_Missense_Mutation_p.R356Q	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	356					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.R356Q(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGCTTCACACGGGGCAACAAC	0.542																																					p.R356Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1067A	11						.						160.0	139.0	146.0					11																	119003857		2200	4295	6495	118509067	SO:0001583	missense	25988	exon10			AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.1067G>A	11.37:g.119003857G>A	ENSP00000318085:p.Arg356Gln		118509067	NM_015517	B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966882	0.92855	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.56941	0.43;0.43	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	N	0.20401	0.57	0.43841	D	0.996426	D	0.89917	1.0	D	0.72625	0.978	T	0.55134	-0.8188	10	0.24483	T	0.36	-25.9598	19.6517	0.95819	0.0:0.0:1.0:0.0	.	356	Q9BQA5	HINFP_HUMAN	Q	356	ENSP00000318085:R356Q;ENSP00000436815:R356Q	ENSP00000318085:R356Q	R	+	2	0	HINFP	118509067	1.000000	0.71417	0.906000	0.35671	0.978000	0.69477	9.363000	0.97131	2.662000	0.90505	0.655000	0.94253	CGG		0.542	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517	
ACACB	32	broad.mit.edu	37	12	109654442	109654442	+	Missense_Mutation	SNP	G	G	A	rs567554237		TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr12:109654442G>A	ENST00000338432.7	+	23	3489	c.3370G>A	c.(3370-3372)Ggc>Agc	p.G1124S	ACACB_ENST00000377854.5_Intron|ACACB_ENST00000377848.3_Missense_Mutation_p.G1124S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1124					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.G1124S(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CGGGATCCGCGGCTATATGAA	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		18919	0.001		0.0	False		,,,				2504	0.0				p.G1124S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3370A	12						.						89.0	88.0	88.0					12																	109654442		2203	4300	6503	108138825	SO:0001583	missense	32	exon22			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3370G>A	12.37:g.109654442G>A	ENSP00000341044:p.Gly1124Ser		108138825	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939658	0.92526	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000390027	T;T	0.39056	1.1;1.1	5.33	5.33	0.75918	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.65291	0.2677	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61860	-0.6976	10	0.36615	T	0.2	.	19.4891	0.95042	0.0:0.0:1.0:0.0	.	1124	O00763	ACACB_HUMAN	S	1124;1124;355	ENSP00000341044:G1124S;ENSP00000367079:G1124S	ENSP00000341044:G1124S	G	+	1	0	ACACB	108138825	1.000000	0.71417	0.962000	0.40283	0.958000	0.62258	9.246000	0.95438	2.679000	0.91253	0.650000	0.86243	GGC		0.458	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
CACNA1C	775	broad.mit.edu	37	12	2566839	2566839	+	Silent	SNP	C	C	T	rs200800133	byFrequency	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr12:2566839C>T	ENST00000347598.4	+	5	724	c.724C>T	c.(724-726)Ctg>Ttg	p.L242L	CACNA1C_ENST00000406454.3_Silent_p.L242L|CACNA1C_ENST00000399597.1_Silent_p.L242L|CACNA1C_ENST00000399621.1_Silent_p.L242L|CACNA1C_ENST00000399638.1_Silent_p.L242L|CACNA1C_ENST00000344100.3_Silent_p.L242L|CACNA1C_ENST00000335762.5_Silent_p.L242L|CACNA1C_ENST00000327702.7_Silent_p.L242L|CACNA1C_ENST00000399634.1_Silent_p.L242L|CACNA1C_ENST00000399591.1_Silent_p.L242L|CACNA1C_ENST00000399617.1_Silent_p.L242L|CACNA1C_ENST00000399644.1_Silent_p.L242L|CACNA1C_ENST00000399649.1_Silent_p.L242L|CACNA1C_ENST00000399601.1_Silent_p.L242L|CACNA1C_ENST00000399637.1_Silent_p.L242L|CACNA1C_ENST00000402845.3_Silent_p.L242L|CACNA1C_ENST00000399595.1_Silent_p.L242L|CACNA1C_ENST00000399641.1_Silent_p.L242L|CACNA1C_ENST00000399603.1_Silent_p.L242L|CACNA1C_ENST00000399655.1_Silent_p.L242L|CACNA1C_ENST00000399606.1_Silent_p.L242L|CACNA1C_ENST00000399629.1_Silent_p.L242L|CACNA1C_ENST00000480911.1_Silent_p.L242L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	242					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L242L(1)|p.L272L(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTCCGCGTGCTGCGCCCCCT	0.552													C|||	9	0.00179712	0.0068	0.0	5008	,	,		16936	0.0		0.0	False		,,,				2504	0.0				p.L242L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C724T	12						.	C	,,,,,,,,,,,,,,,,,,,,,,	13,4259		0,13,2123	162.0	183.0	176.0		724,724,724,724,724,724,724,724,724,724,724,724,724,724,724,724,724,724,724,724,724,724,724	3.2	1.0	12		176	0,8468		0,0,4234	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1C	NM_000719.6,NM_001129827.1,NM_001129829.1,NM_001129830.1,NM_001129831.1,NM_001129832.1,NM_001129833.1,NM_001129834.1,NM_001129835.1,NM_001129836.1,NM_001129837.1,NM_001129838.1,NM_001129839.1,NM_001129840.1,NM_001129841.1,NM_001129842.1,NM_001129843.1,NM_001129844.1,NM_001129846.1,NM_001167623.1,NM_001167624.1,NM_001167625.1,NM_199460.2	,,,,,,,,,,,,,,,,,,,,,,	0,13,6357	TT,TC,CC		0.0,0.3043,0.102	,,,,,,,,,,,,,,,,,,,,,,	242/2139,242/2187,242/2180,242/2174,242/2167,242/2159,242/2158,242/2158,242/2158,242/2156,242/2147,242/2147,242/2145,242/2139,242/2139,242/2139,242/2139,242/2136,242/2128,242/2139,242/2174,242/2199,242/2222	2566839	13,12727	2136	4234	6370	2437100	SO:0001819	synonymous_variant	775	exon5			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.724C>T	12.37:g.2566839C>T			2437100	NM_001129842	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	CCDS44788.1																																																																																				0.552	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	
LMO3	55885	broad.mit.edu	37	12	16753658	16753658	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr12:16753658C>T	ENST00000320122.6	-	2	659	c.137G>A	c.(136-138)cGc>cAc	p.R46H	LMO3_ENST00000540445.1_Missense_Mutation_p.R46H|LMO3_ENST00000534946.1_Missense_Mutation_p.R46H|LMO3_ENST00000447609.1_Missense_Mutation_p.R46H|LMO3_ENST00000541846.1_Missense_Mutation_p.R46H|LMO3_ENST00000537568.1_5'UTR|LMO3_ENST00000540848.1_Missense_Mutation_p.R46H|LMO3_ENST00000535535.1_Missense_Mutation_p.R46H|LMO3_ENST00000441439.2_Missense_Mutation_p.R46H|LMO3_ENST00000541295.1_Missense_Mutation_p.R64H|LMO3_ENST00000537304.1_Missense_Mutation_p.R46H|LMO3_ENST00000261169.6_Missense_Mutation_p.R57H|LMO3_ENST00000354662.1_Missense_Mutation_p.R46H	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	46	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		zinc ion binding (GO:0008270)	p.R46H(1)		endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				CTCTCCCAAGCGACAGTCACA	0.498																																					p.R46H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G137A	12						.						152.0	130.0	137.0					12																	16753658		2203	4300	6503	16644925	SO:0001583	missense	55885	exon2			BC026311	CCDS8678.1, CCDS58210.1, CCDS58211.1, CCDS58212.1	12p13	2004-05-19			ENSG00000048540	ENSG00000048540			6643	protein-coding gene	gene with protein product		180386		RBTNL2		11489251	Standard	NM_018640		Approved	Rhom-3, DAT1	uc010shy.2	Q8TAP4	OTTHUMG00000168837	ENST00000320122.6:c.137G>A	12.37:g.16753658C>T	ENSP00000312856:p.Arg46His		16644925	NM_001001395	B4DG90|B4DH35|Q58A66|Q58A67|Q8N974|Q9UDD5	Missense_Mutation	SNP	ENST00000320122.6	37	CCDS8678.1	.	.	.	.	.	.	.	.	.	.	C	36	5.647426	0.96714	.	.	ENSG00000048540	ENST00000354662;ENST00000441439;ENST00000447609;ENST00000320122;ENST00000261169;ENST00000542544;ENST00000540848;ENST00000535535;ENST00000537304;ENST00000541295;ENST00000534946;ENST00000540445;ENST00000541846;ENST00000539534;ENST00000546281;ENST00000537757;ENST00000546279;ENST00000538051;ENST00000545436;ENST00000540590;ENST00000538020	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	5.92	5.92	0.95590	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.92593	0.7647	M	0.64170	1.965	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;P;D	0.70016	0.967;0.957;0.872;0.942	D	0.90921	0.4783	10	0.40728	T	0.16	.	20.3213	0.98679	0.0:1.0:0.0:0.0	.	46;64;46;57	B4DH35;B4DG90;Q8TAP4;Q58A67	.;.;LMO3_HUMAN;.	H	46;46;46;46;57;46;46;46;46;64;46;46;46;46;46;46;46;46;46;46;46	ENSP00000346689:R46H;ENSP00000412479:R46H;ENSP00000413703:R46H;ENSP00000312856:R46H;ENSP00000261169:R57H;ENSP00000445751:R46H;ENSP00000446115:R46H;ENSP00000440099:R46H;ENSP00000446463:R64H;ENSP00000439275:R46H;ENSP00000442786:R46H;ENSP00000444393:R46H;ENSP00000443807:R46H;ENSP00000442713:R46H;ENSP00000445193:R46H;ENSP00000441360:R46H;ENSP00000445504:R46H;ENSP00000444269:R46H;ENSP00000439989:R46H;ENSP00000446095:R46H	ENSP00000261169:R57H	R	-	2	0	LMO3	16644925	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	7.813000	0.86123	2.810000	0.96702	0.650000	0.86243	CGC		0.498	LMO3-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401279.1	NM_018640	
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.G12V	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS,haematopoietic_and_lymphoid_tissue,NS,Substitution - Missense,0 	.	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	c.G35T	12						.						91.0	81.0	85.0					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	3845	exon2	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val		25289551	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
IPO8	10526	broad.mit.edu	37	12	30789968	30789968	+	Silent	SNP	C	C	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr12:30789968C>T	ENST00000256079.4	-	22	2981	c.2643G>A	c.(2641-2643)ctG>ctA	p.L881L	IPO8_ENST00000544829.1_Silent_p.L676L	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	881					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.L881L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCCGGTTTACCAGTTGTCTAG	0.393																																					p.L881L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2643A	12						.						114.0	106.0	108.0					12																	30789968		2203	4300	6503	30681235	SO:0001819	synonymous_variant	10526	exon22			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2643G>A	12.37:g.30789968C>T			30681235	NM_006390	B7Z7M3	Silent	SNP	ENST00000256079.4	37	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	C	0.045	-1.270453	0.01421	.	.	ENSG00000133704	ENST00000535598	.	.	.	5.06	-0.955	0.10356	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.6975	0.2635	0.00222	0.2099:0.2532:0.2079:0.3291	.	.	.	.	X	39	.	.	W	-	2	0	IPO8	30681235	0.000000	0.05858	0.015000	0.15790	0.035000	0.12851	-0.171000	0.09883	0.020000	0.15106	-0.142000	0.14014	TGG		0.393	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390	
YARS2	51067	broad.mit.edu	37	12	32902904	32902904	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr12:32902904C>T	ENST00000324868.8	-	4	1268	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	YARS2_ENST00000551673.1_5'UTR	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	414					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)	p.R414H(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	ATTTGCTTTGCGGCAAGTATC	0.393																																					p.R414H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1241A	12						.						94.0	98.0	96.0					12																	32902904		2203	4300	6503	32794171	SO:0001583	missense	51067	exon4			AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.1241G>A	12.37:g.32902904C>T	ENSP00000320658:p.Arg414His		32794171	NM_001040436	D3DUW8|Q9H817	Missense_Mutation	SNP	ENST00000324868.8	37	CCDS31770.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238507	0.39598	.	.	ENSG00000139131	ENST00000324868	T	0.72615	-0.67	5.47	5.47	0.80525	RNA-binding S4 (1);	0.124573	0.52532	D	0.000067	T	0.68540	0.3012	M	0.64997	1.995	0.54753	D	0.999984	B	0.19583	0.037	B	0.12156	0.007	T	0.67007	-0.5779	10	0.66056	D	0.02	-8.233	14.528	0.67902	0.1465:0.8535:0.0:0.0	.	414	Q9Y2Z4	SYYM_HUMAN	H	414	ENSP00000320658:R414H	ENSP00000320658:R414H	R	-	2	0	YARS2	32794171	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	3.449000	0.52950	2.734000	0.93682	0.585000	0.79938	CGC		0.393	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936	
ABCD2	225	broad.mit.edu	37	12	40012924	40012924	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr12:40012924C>T	ENST00000308666.3	-	1	629	c.494G>A	c.(493-495)aGg>aAg	p.R165K		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	165	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Interaction with PEX19.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.R165K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TTCCAGGTACCTTATTGCACT	0.403																																					p.R165K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G494A	12						.						104.0	102.0	103.0					12																	40012924		2203	4300	6503	38299191	SO:0001583	missense	225	exon1			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.494G>A	12.37:g.40012924C>T	ENSP00000310688:p.Arg165Lys		38299191	NM_005164	B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410431	0.83340	.	.	ENSG00000173208	ENST00000308666	D	0.99527	-6.09	5.18	5.18	0.71444	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98912	0.9631	L	0.31065	0.9	0.58432	D	0.999992	D	0.58970	0.984	P	0.61477	0.889	D	0.99824	1.1049	9	.	.	.	-5.2854	18.709	0.91649	0.0:1.0:0.0:0.0	.	165	Q9UBJ2	ABCD2_HUMAN	K	165	ENSP00000310688:R165K	.	R	-	2	0	ABCD2	38299191	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.350000	0.79385	2.413000	0.81919	0.563000	0.77884	AGG		0.403	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164	
EIF2B1	1967	broad.mit.edu	37	12	124114945	124114945	+	Splice_Site	SNP	G	G	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr12:124114945G>A	ENST00000424014.2	-	3	459	c.251C>T	c.(250-252)tCc>tTc	p.S84F	EIF2B1_ENST00000537073.1_Splice_Site_p.S84F|EIF2B1_ENST00000543940.1_5'UTR|EIF2B1_ENST00000539951.1_Splice_Site_p.S71F	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	84					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)	p.S84F(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		GGCACTTACGGAGTATTCCAG	0.532																																					p.S84F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C251T	12						.						77.0	65.0	69.0					12																	124114945		2203	4300	6503	122680898	SO:0001630	splice_region_variant	1967	exon3			X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"""eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"""	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.252+1C>T	12.37:g.124114945G>A			122680898	NM_001414	A6NLY9|B4DGX0|Q3SXP4	Missense_Mutation	SNP	ENST00000424014.2	37	CCDS31924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.93|16.93	3.257905|3.257905	0.59321|0.59321	.|.	.|.	ENSG00000111361|ENSG00000111361	ENST00000534960|ENST00000424014;ENST00000228958;ENST00000539951;ENST00000537073	.|D;D;D;D	.|0.93307	.|-3.2;-3.2;-3.2;-3.2	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	.|0.288290	.|0.39341	.|N	.|0.001382	D|D	0.96134|0.96134	0.8740|0.8740	M|M	0.73598|0.73598	2.24|2.24	0.50171|0.50171	D|D	0.999859|0.999859	.|D;D;P	.|0.64830	.|0.994;0.99;0.886	.|P;P;P	.|0.61722	.|0.893;0.696;0.602	D|D	0.96225|0.96225	0.9163|0.9163	5|10	.|0.59425	.|D	.|0.04	-15.2796|-15.2796	18.8657|18.8657	0.92292|0.92292	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|84;71;84	.|B4DGX0;F5H0D0;Q14232	.|.;.;EI2BA_HUMAN	S|F	100|84;84;71;84	.|ENSP00000416250:S84F;ENSP00000228958:S84F;ENSP00000438060:S71F;ENSP00000444183:S84F	.|ENSP00000228958:S84F	P|S	-|-	1|2	0|0	EIF2B1|EIF2B1	122680898|122680898	1.000000|1.000000	0.71417|0.71417	0.945000|0.945000	0.38365|0.38365	0.255000|0.255000	0.26057|0.26057	5.663000|5.663000	0.68038|0.68038	2.459000|2.459000	0.83118|0.83118	0.462000|0.462000	0.41574|0.41574	CCG|TCC		0.532	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	NM_001414	Missense_Mutation
SLC7A7	9056	broad.mit.edu	37	14	23243302	23243302	+	Silent	SNP	G	G	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr14:23243302G>T	ENST00000397532.3	-	9	1794	c.1269C>A	c.(1267-1269)gtC>gtA	p.V423V	SLC7A7_ENST00000397529.2_Silent_p.V423V|SLC7A7_ENST00000554517.1_Silent_p.V157V|SLC7A7_ENST00000555702.1_Silent_p.V423V|SLC7A7_ENST00000285850.7_Silent_p.V423V|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397528.4_Silent_p.V423V			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	423					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)	p.V423V(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGAGGCAGAAGACAATCGGGA	0.493																																					p.V423V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1269A	14						.						128.0	126.0	126.0					14																	23243302		2203	4300	6503	22313142	SO:0001819	synonymous_variant	9056	exon10			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1269C>A	14.37:g.23243302G>T			22313142	NM_001126106	B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Silent	SNP	ENST00000397532.3	37	CCDS9574.1	.	.	.	.	.	.	.	.	.	.	G	9.511	1.105670	0.20632	.	.	ENSG00000155465	ENST00000556350	.	.	.	6.13	5.24	0.73138	.	.	.	.	.	T	0.63733	0.2536	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62647	-0.6810	4	.	.	.	.	11.597	0.50979	0.0:0.1348:0.725:0.1401	.	.	.	.	Y	88	.	.	S	-	2	0	SLC7A7	22313142	0.951000	0.32395	1.000000	0.80357	0.970000	0.65996	0.092000	0.15066	1.621000	0.50320	-0.155000	0.13514	TCT		0.493	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3		
GPHN	10243	broad.mit.edu	37	14	67390998	67390998	+	Intron	SNP	A	A	G			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr14:67390998A>G	ENST00000315266.5	+	7	1850				GPHN_ENST00000543237.1_Intron|GPHN_ENST00000478722.1_Missense_Mutation_p.T273A|GPHN_ENST00000305960.9_Intron|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000459628.1_Missense_Mutation_p.T255A	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin						establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)	p.T273A(1)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		CCATCATTCAACAGATGAACG	0.428			T	MLL	AL																																p.T273A			Dom	yes		14	14q24	10243	gephyrin (GPH)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A817G	14						.						134.0	107.0	116.0					14																	67390998		2203	4300	6503	66460751	SO:0001627	intron_variant	10243	exon8			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.729+1343A>G	14.37:g.67390998A>G			66460751	NM_020806	Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	A	11.10	1.538767	0.27475	.	.	ENSG00000171723	ENST00000478722;ENST00000459628	.	.	.	5.4	4.26	0.50523	.	0.167722	0.38837	N	0.001547	T	0.27866	0.0686	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05305	-1.0893	9	0.25751	T	0.34	0.3889	6.3679	0.21465	0.7673:0.0:0.2327:0.0	.	273;255	Q9NQX3-2;G3V582	.;.	A	273;255	.	ENSP00000417901:T273A	T	+	1	0	GPHN	66460751	0.924000	0.31332	1.000000	0.80357	0.993000	0.82548	-0.130000	0.10498	0.884000	0.36064	-0.280000	0.10049	ACA		0.428	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806	
ELMSAN1	91748	broad.mit.edu	37	14	74205905	74205905	+	Silent	SNP	C	C	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr14:74205905C>T	ENST00000286523.5	-	2	1589	c.807G>A	c.(805-807)ccG>ccA	p.P269P	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_Silent_p.P269P	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	269	Gln-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.P269P(1)									TCTCAAAGAGCGGCATCTGGG	0.637																																					p.P269P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G807A	14						.						24.0	27.0	26.0					14																	74205905		2203	4299	6502	73275658	SO:0001819	synonymous_variant	91748	exon2			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.807G>A	14.37:g.74205905C>T			73275658	NM_001043318	Q6PK13|Q6PK59|Q6ZS23	Silent	SNP	ENST00000286523.5	37	CCDS9819.1																																																																																				0.637	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278	
DDX24	57062	broad.mit.edu	37	14	94519455	94519455	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr14:94519455G>A	ENST00000330836.5	-	8	2328	c.2197C>T	c.(2197-2199)Cga>Tga	p.R733*	DDX24_ENST00000555054.1_Nonsense_Mutation_p.R690*|DDX24_ENST00000544005.1_Nonsense_Mutation_p.R483*|DDX24_ENST00000553400.1_5'Flank	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	733					RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.R733*(1)		cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TCAATCTGTCGAGCTAAACGG	0.478																																					p.R733X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2197T	14						.						51.0	51.0	51.0					14																	94519455		2203	4300	6503	93589208	SO:0001587	stop_gained	57062	exon8			AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.2197C>T	14.37:g.94519455G>A	ENSP00000328690:p.Arg733*		93589208	NM_020414	E7EMJ4|Q4V9L5	Nonsense_Mutation	SNP	ENST00000330836.5	37	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	G	38	6.741440	0.97805	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	.	.	.	5.61	3.62	0.41486	.	0.061235	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.9039	14.3651	0.66801	0.0:0.0:0.574:0.426	.	.	.	.	X	733;483;678;359;690;690	.	ENSP00000328690:R733X	R	-	1	2	DDX24	93589208	0.995000	0.38212	0.416000	0.26546	0.871000	0.50021	0.986000	0.29590	1.472000	0.48140	0.655000	0.94253	CGA		0.478	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414	
GABRG3	2567	broad.mit.edu	37	15	27574004	27574004	+	Silent	SNP	C	C	T	rs200252575		TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr15:27574004C>T	ENST00000333743.6	+	5	797	c.543C>T	c.(541-543)gaC>gaT	p.D181D	GABRG3_ENST00000555083.1_Silent_p.D181D	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	181					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.D181D(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)	TCCCCATGGACGAACACTCCT	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18774	0.0		0.0	False		,,,				2504	0.0				p.D181D	NSCLC(114;800 1656 7410 37729 45293)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C543T	15						.						84.0	85.0	84.0					15																	27574004		2135	4252	6387	25156750	SO:0001819	synonymous_variant	2567	exon5				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.543C>T	15.37:g.27574004C>T			25156750	NM_033223	G3V594|Q9HD46|Q9NYT2	Silent	SNP	ENST00000333743.6	37	CCDS45195.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.55	1.380290	0.24944	.	.	ENSG00000182256	ENST00000557596	.	.	.	5.35	-1.69	0.08186	.	.	.	.	.	T	0.55705	0.1937	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52328	-0.8590	4	.	.	.	.	10.4074	0.44272	0.0:0.4877:0.0:0.5123	.	.	.	.	M	14	.	.	T	+	2	0	GABRG3	25156750	0.971000	0.33674	0.996000	0.52242	0.995000	0.86356	0.039000	0.13884	-0.188000	0.10499	0.563000	0.77884	ACG		0.567	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2		
SLC12A6	9990	broad.mit.edu	37	15	34536190	34536190	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr15:34536190A>T	ENST00000354181.3	-	16	2519	c.2027T>A	c.(2026-2028)tTc>tAc	p.F676Y	SLC12A6_ENST00000451844.2_Missense_Mutation_p.F488Y|SLC12A6_ENST00000560164.1_Missense_Mutation_p.F488Y|SLC12A6_ENST00000290209.5_Missense_Mutation_p.F625Y|SLC12A6_ENST00000397707.2_Missense_Mutation_p.F661Y|SLC12A6_ENST00000397702.2_Missense_Mutation_p.F617Y|SLC12A6_ENST00000558589.1_Missense_Mutation_p.F667Y|SLC12A6_ENST00000458406.2_Missense_Mutation_p.F617Y|SLC12A6_ENST00000558667.1_Missense_Mutation_p.F676Y|SLC12A6_ENST00000560611.1_Missense_Mutation_p.F676Y			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	676					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.F667Y(1)|p.F625Y(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GTAGTAGCGGAATCGGGGTCT	0.413																																					p.F661Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1982A	15						.						138.0	132.0	134.0					15																	34536190		2201	4298	6499	32323482	SO:0001583	missense	9990	exon14			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2027T>A	15.37:g.34536190A>T	ENSP00000346112:p.Phe676Tyr		32323482	NM_001042497	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.948111	0.92593	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.98958	-5.27;-5.27;-5.27;-5.27;-5.27	4.83	4.83	0.62350	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98991	0.9656	M	0.83774	2.66	0.80722	D	1	P;D;D;P	0.65815	0.915;0.965;0.995;0.825	P;P;D;P	0.70227	0.779;0.893;0.968;0.58	D	0.99445	1.0939	10	0.59425	D	0.04	.	13.5204	0.61563	1.0:0.0:0.0:0.0	.	661;676;625;488	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	Y	625;661;667;617;617;488	ENSP00000290209:F625Y;ENSP00000380819:F661Y;ENSP00000380814:F617Y;ENSP00000387725:F617Y;ENSP00000390199:F488Y	ENSP00000290209:F625Y	F	-	2	0	SLC12A6	32323482	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.113000	0.94321	2.020000	0.59435	0.454000	0.30748	TTC		0.413	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135	
SLC12A6	9990	broad.mit.edu	37	15	34553220	34553220	+	Splice_Site	SNP	G	G	A	rs116086579	byFrequency	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr15:34553220G>A	ENST00000354181.3	-	4	810	c.318C>T	c.(316-318)gaC>gaT	p.D106D	SLC12A6_ENST00000451844.2_De_novo_Start_OutOfFrame|SLC12A6_ENST00000560164.1_De_novo_Start_OutOfFrame|SLC12A6_ENST00000290209.5_Splice_Site_p.D55D|SLC12A6_ENST00000397707.2_Splice_Site_p.D91D|SLC12A6_ENST00000397702.2_Splice_Site_p.D47D|SLC12A6_ENST00000558589.1_Splice_Site_p.D97D|SLC12A6_ENST00000458406.2_Splice_Site_p.D47D|SLC12A6_ENST00000558667.1_Splice_Site_p.D106D|SLC12A6_ENST00000560611.1_Splice_Site_p.D106D			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	106					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.D97D(1)|p.D55D(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TATGTCCGTCGTCTGGAAAAA	0.348													G|||	31	0.0061901	0.0227	0.0014	5008	,	,		17083	0.0		0.0	False		,,,				2504	0.0				p.D91D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C273T	15						.	G	,,,,,	72,4330	62.3+/-99.4	2,68,2131	50.0	55.0	54.0		141,141,291,273,165,318	3.9	1.0	15	dbSNP_132	54	0,8590		0,0,4295	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	SLC12A6	NM_001042494.1,NM_001042495.1,NM_001042496.1,NM_001042497.1,NM_005135.2,NM_133647.1	,,,,,	2,68,6426	AA,AG,GG		0.0,1.6356,0.5542	,,,,,	47/1092,47/1092,97/1142,91/1136,55/1100,106/1151	34553220	72,12920	2201	4295	6496	32340512	SO:0001630	splice_region_variant	9990	exon2			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.317-1C>T	15.37:g.34553220G>A			32340512	NM_001042497	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	De_novo_Start_OutOfFrame	SNP	ENST00000354181.3	37	CCDS58352.1																																																																																				0.348	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135	Silent
FBN1	2200	broad.mit.edu	37	15	48719918	48719918	+	Silent	SNP	G	G	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr15:48719918G>A	ENST00000316623.5	-	58	7505	c.7050C>T	c.(7048-7050)atC>atT	p.I2350I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2350	TB 9.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.I2350I(2)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGCTGGAGCCGATCTGACACA	0.532																																					p.I2350I												.	.	2	Substitution - coding silent(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.C7050T	15						.						125.0	107.0	113.0					15																	48719918		2198	4296	6494	46507210	SO:0001819	synonymous_variant	2200	exon58			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7050C>T	15.37:g.48719918G>A			46507210	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103123	0.56183	.	.	ENSG00000166147	ENST00000389087	.	.	.	5.44	-2.53	0.06326	.	.	.	.	.	T	0.49047	0.1534	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38457	-0.9660	5	0.15499	T	0.54	.	12.9989	0.58664	0.6323:0.0:0.3677:0.0	.	.	.	.	L	939	.	ENSP00000373739:S939L	S	-	2	0	FBN1	46507210	0.475000	0.25894	0.978000	0.43139	0.988000	0.76386	-0.073000	0.11468	-0.411000	0.07530	-0.142000	0.14014	TCG		0.532	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
ATP8B4	79895	broad.mit.edu	37	15	50152584	50152584	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr15:50152584C>A	ENST00000284509.6	-	28	3527	c.3386G>T	c.(3385-3387)gGc>gTc	p.G1129V	ATP8B4_ENST00000559829.1_Missense_Mutation_p.G1129V	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1129						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G1129V(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AAAAGCATAGCCAGACCTTCT	0.517																																					p.G1129V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3386T	15						.						113.0	103.0	106.0					15																	50152584		2196	4295	6491	47939876	SO:0001583	missense	79895	exon28			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.3386G>T	15.37:g.50152584C>A	ENSP00000284509:p.Gly1129Val		47939876	NM_024837	Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.877892	0.72294	.	.	ENSG00000104043	ENST00000284509	T	0.44083	0.93	5.48	5.48	0.80851	.	0.062760	0.64402	D	0.000007	T	0.68641	0.3023	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;0.982	D;P	0.74023	0.982;0.852	T	0.73711	-0.3897	10	0.72032	D	0.01	.	16.8328	0.85949	0.0:1.0:0.0:0.0	.	207;1129	Q6PG43;Q8TF62	.;AT8B4_HUMAN	V	1129	ENSP00000284509:G1129V	ENSP00000284509:G1129V	G	-	2	0	ATP8B4	47939876	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.848000	0.39309	2.574000	0.86865	0.455000	0.32223	GGC		0.517	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	
CERS3	204219	broad.mit.edu	37	15	101009604	101009604	+	Missense_Mutation	SNP	C	C	T	rs143625266		TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr15:101009604C>T	ENST00000394113.1	-	12	1514	c.824G>A	c.(823-825)cGc>cAc	p.R275H	CERS3_ENST00000538112.2_Missense_Mutation_p.R275H|CERS3_ENST00000284382.4_Missense_Mutation_p.R275H|CERS3_ENST00000560944.1_Intron			Q8IU89	CERS3_HUMAN	ceramide synthase 3	275	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.R275H(1)									AACAATGAGGCGGCTGATGAA	0.478																																					p.R275H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G824A	15						.	C	HIS/ARG	0,4406		0,0,2203	109.0	105.0	106.0		824	5.7	0.9	15	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	missense	CERS3	NM_178842.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	275/384	101009604	1,13005	2203	4300	6503	98827127	SO:0001583	missense	204219	exon11				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.824G>A	15.37:g.101009604C>T	ENSP00000377672:p.Arg275His		98827127	NM_178842	Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786048	0.49997	0.0	1.16E-4	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.99760	-6.66;-6.66	5.68	5.68	0.88126	TRAM/LAG1/CLN8 homology domain (3);	0.165679	0.47852	D	0.000205	D	0.99857	0.9933	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96994	0.9724	10	0.87932	D	0	-15.997	18.9319	0.92570	0.0:1.0:0.0:0.0	.	275	Q8IU89	CERS3_HUMAN	H	275;286;275	ENSP00000284382:R275H;ENSP00000437640:R275H	ENSP00000284382:R275H	R	-	2	0	CERS3	98827127	1.000000	0.71417	0.946000	0.38457	0.029000	0.11900	6.662000	0.74426	2.835000	0.97688	0.650000	0.86243	CGC		0.478	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842	
KIAA0430	9665	broad.mit.edu	37	16	15690660	15690660	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr16:15690660A>C	ENST00000396368.3	-	27	5325	c.5119T>G	c.(5119-5121)Tcc>Gcc	p.S1707A	KIAA0430_ENST00000551742.1_Missense_Mutation_p.S1707A|KIAA0430_ENST00000540441.2_Missense_Mutation_p.S1542A|KIAA0430_ENST00000602337.1_Missense_Mutation_p.S1704A|KIAA0430_ENST00000344181.3_Missense_Mutation_p.S1395A|KIAA0430_ENST00000548025.1_Missense_Mutation_p.S1704A	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1707					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S1707A(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGTGACTCGGAGGTTTCCGAG	0.537																																					p.S1704A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5110G	16						.						77.0	78.0	78.0					16																	15690660		1994	4187	6181	15598161	SO:0001583	missense	9665	exon27			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.5119T>G	16.37:g.15690660A>C	ENSP00000379654:p.Ser1707Ala		15598161	NM_001184999	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	A	10.17	1.277952	0.23307	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.45	0.369	0.16151	.	0.611666	0.16307	N	0.220189	T	0.25975	0.0633	N	0.24115	0.695	0.20403	N	0.999907	B;B;B;B	0.14012	0.009;0.0;0.0;0.005	B;B;B;B	0.17979	0.02;0.002;0.002;0.009	T	0.19289	-1.0310	9	0.48119	T	0.1	.	7.9073	0.29769	0.5315:0.0:0.4685:0.0	.	1706;1704;1703;1706	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	A	1707;1542;1647;1395;1704;1707;1573	.	ENSP00000315718:S1647A	S	-	1	0	KIAA0430	15598161	0.999000	0.42202	0.805000	0.32314	0.065000	0.16274	0.490000	0.22403	0.226000	0.20979	-0.177000	0.13119	TCC		0.537	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647	
SEC14L5	9717	broad.mit.edu	37	16	5058480	5058480	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr16:5058480G>A	ENST00000251170.7	+	14	1811	c.1631G>A	c.(1630-1632)cGa>cAa	p.R544Q	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	544	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)	p.R544Q(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						GACATCCTGCGAGGGGACGTG	0.652																																					p.R544Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1631A	16						.						41.0	48.0	46.0					16																	5058480		2036	4178	6214	4998481	SO:0001583	missense	9717	exon14			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.1631G>A	16.37:g.5058480G>A	ENSP00000251170:p.Arg544Gln		4998481	NM_014692		Missense_Mutation	SNP	ENST00000251170.7	37	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	g	14.91	2.675288	0.47781	.	.	ENSG00000103184	ENST00000251170	T	0.42900	0.96	4.65	2.7	0.31948	GOLD (2);	0.266277	0.26680	N	0.023057	T	0.37571	0.1008	M	0.72894	2.215	0.21841	N	0.999517	B	0.30021	0.265	B	0.24974	0.057	T	0.33599	-0.9862	10	0.54805	T	0.06	-25.0504	7.3854	0.26880	0.336:0.0:0.664:0.0	.	544	O43304	S14L5_HUMAN	Q	544	ENSP00000251170:R544Q	ENSP00000251170:R544Q	R	+	2	0	SEC14L5	4998481	0.999000	0.42202	0.002000	0.10522	0.828000	0.46876	2.880000	0.48530	0.593000	0.29745	0.556000	0.70494	CGA		0.652	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1		
SMG1	23049	broad.mit.edu	37	16	18865998	18865998	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr16:18865998G>T	ENST00000446231.2	-	30	4875	c.4463C>A	c.(4462-4464)aCc>aAc	p.T1488N	SMG1_ENST00000389467.3_Missense_Mutation_p.T1488N			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1488	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T1484N(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AAGCAATTTGGTTTTTTCAAT	0.318																																					p.T1488N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4463A	16						.						64.0	58.0	60.0					16																	18865998		1807	4072	5879	18773499	SO:0001583	missense	23049	exon30			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.4463C>A	16.37:g.18865998G>T	ENSP00000402515:p.Thr1488Asn		18773499	NM_015092	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837174	0.50951	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01192	5.2;5.2	5.74	5.74	0.90152	PIK-related kinase (1);Armadillo-type fold (1);	0.101162	0.44285	D	0.000468	T	0.01387	0.0045	N	0.14661	0.345	0.80722	D	1	B	0.26975	0.165	B	0.29353	0.101	T	0.72516	-0.4269	10	0.42905	T	0.14	.	19.918	0.97070	0.0:0.0:1.0:0.0	.	1488	Q96Q15	SMG1_HUMAN	N	1488	ENSP00000402515:T1488N;ENSP00000374118:T1488N	ENSP00000374118:T1488N	T	-	2	0	SMG1	18773499	1.000000	0.71417	1.000000	0.80357	0.344000	0.29017	9.428000	0.97476	2.716000	0.92895	0.561000	0.74099	ACC		0.318	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
HYDIN	54768	broad.mit.edu	37	16	71196550	71196550	+	Silent	SNP	G	G	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr16:71196550G>A	ENST00000393567.2	-	6	750	c.600C>T	c.(598-600)ctC>ctT	p.L200L	HYDIN_ENST00000541601.1_Silent_p.L217L|HYDIN_ENST00000393550.2_Silent_p.L200L|HYDIN_ENST00000288168.10_Silent_p.L217L|HYDIN_ENST00000448089.2_Silent_p.L200L|HYDIN_ENST00000448691.1_Silent_p.L200L|HYDIN_ENST00000538248.1_Silent_p.L227L|HYDIN_ENST00000321489.5_Silent_p.L200L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	200					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.L200L(4)		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)				CAGGAAAATCGAGAATGGCTC	0.428																																					p.L200L												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C600T	16						.						12.0	11.0	11.0					16																	71196550		2150	4239	6389	69754051	SO:0001819	synonymous_variant	54768	exon6			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.600C>T	16.37:g.71196550G>A			69754051	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	8.608	0.888511	0.17540	.	.	ENSG00000157423	ENST00000538382	.	.	.	4.92	-9.84	0.00479	.	.	.	.	.	T	0.41213	0.1149	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48570	-0.9024	4	.	.	.	.	5.0912	0.14710	0.1863:0.4247:0.2968:0.0922	.	.	.	.	L	39	.	.	S	-	2	0	HYDIN	69754051	0.014000	0.17966	0.879000	0.34478	0.883000	0.51084	-1.242000	0.02908	-1.520000	0.01773	-1.632000	0.00781	TCG		0.428	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
MYH4	4622	broad.mit.edu	37	17	10359046	10359046	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr17:10359046C>T	ENST00000255381.2	-	19	2169	c.2059G>A	c.(2059-2061)Gcc>Acc	p.A687T	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	687	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGCTCCATGGCACCTAAGAGA	0.488																																					p.A687T												.	.	0			c.G2059A	17						.						149.0	124.0	132.0					17																	10359046		2203	4300	6503	10299771	SO:0001583	missense	4622	exon19				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2059G>A	17.37:g.10359046C>T	ENSP00000255381:p.Ala687Thr		10299771	NM_017533		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.617414	0.28801	.	.	ENSG00000141048	ENST00000255381	D	0.87103	-2.21	4.94	4.94	0.65067	Myosin head, motor domain (2);	0.000000	0.37178	U	0.002217	T	0.79100	0.4389	N	0.12182	0.205	0.52501	D	0.999957	B	0.02656	0.0	B	0.08055	0.003	T	0.74896	-0.3508	10	0.66056	D	0.02	.	18.5313	0.90993	0.0:1.0:0.0:0.0	.	687	Q9Y623	MYH4_HUMAN	T	687	ENSP00000255381:A687T	ENSP00000255381:A687T	A	-	1	0	MYH4	10299771	0.935000	0.31712	1.000000	0.80357	0.438000	0.31896	1.519000	0.35888	2.445000	0.82738	0.305000	0.20034	GCC		0.488	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
ZNF287	57336	broad.mit.edu	37	17	16470901	16470901	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr17:16470901G>A	ENST00000395824.1	-	2	762	c.145C>T	c.(145-147)Cga>Tga	p.R49*	ZNF287_ENST00000395825.3_Nonsense_Mutation_p.R49*|ZNF287_ENST00000461555.1_5'Flank			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	42	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R42*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		AAATTCTGTCGACAGGTCTCA	0.473																																					p.R49X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C145T	17						.						85.0	85.0	85.0					17																	16470901		2203	4300	6503	16411626	SO:0001587	stop_gained	57336	exon2			AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.145C>T	17.37:g.16470901G>A	ENSP00000379168:p.Arg49*		16411626	NM_020653	Q6IAG1	Nonsense_Mutation	SNP	ENST00000395824.1	37	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	G	41	8.898838	0.98994	.	.	ENSG00000141040	ENST00000395825;ENST00000395824;ENST00000448349	.	.	.	5.22	5.22	0.72569	.	0.000000	0.40469	N	0.001087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5001	0.67716	0.0:0.0:1.0:0.0	.	.	.	.	X	49	.	ENSP00000379168:R49X	R	-	1	2	ZNF287	16411626	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.655000	0.37345	2.894000	0.99253	0.655000	0.94253	CGA		0.473	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1		
ADAP2	55803	broad.mit.edu	37	17	29281571	29281571	+	Silent	SNP	C	C	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr17:29281571C>T	ENST00000330889.3	+	9	1215	c.880C>T	c.(880-882)Ctg>Ttg	p.L294L	AC091177.1_ENST00000442757.1_RNA|ADAP2_ENST00000580525.1_Silent_p.L300L	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	294	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.L294L(1)|p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CAAGAACCCACTGGTAAGAGC	0.502																																					p.L294L												.	.	2	Unknown(1)|Substitution - coding silent(1)	large_intestine(1)|central_nervous_system(1)	c.C880T	17						.						93.0	95.0	94.0					17																	29281571		2203	4300	6503	26305697	SO:0001819	synonymous_variant	55803	exon9			AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16487	protein-coding gene	gene with protein product		608635	"""centaurin, alpha 2"""	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.880C>T	17.37:g.29281571C>T			26305697	NM_018404	Q8N4Q6|Q96SD5	Silent	SNP	ENST00000330889.3	37	CCDS11261.1																																																																																				0.502	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	NM_018404	
RNF43	54894	broad.mit.edu	37	17	56435653	56435653	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr17:56435653G>T	ENST00000584437.1	-	8	3439	c.1484C>A	c.(1483-1485)tCt>tAt	p.S495Y	RNF43_ENST00000407977.2_Missense_Mutation_p.S495Y|RNF43_ENST00000577716.1_Missense_Mutation_p.S495Y|RNF43_ENST00000583753.1_Missense_Mutation_p.S454Y|RNF43_ENST00000500597.2_Missense_Mutation_p.S454Y|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.S368Y|RNF43_ENST00000577625.1_Missense_Mutation_p.S368Y			Q68DV7	RNF43_HUMAN	ring finger protein 43	495	Ser-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S495Y(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGAAAGTAGAACTGCTGCC	0.577																																					p.S495Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1484A	17						.						92.0	91.0	91.0					17																	56435653		2203	4300	6503	53790652	SO:0001583	missense	54894	exon9				CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1484C>A	17.37:g.56435653G>T	ENSP00000463069:p.Ser495Tyr		53790652	NM_017763	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809089	0.50421	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.34667	1.35;1.4	4.69	4.69	0.59074	.	0.196987	0.45126	D	0.000399	T	0.51244	0.1663	L	0.36672	1.1	0.48087	D	0.999585	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.87578	0.998;0.997;0.994	T	0.55780	-0.8087	10	0.87932	D	0	-30.4755	16.5861	0.84727	0.0:0.0:1.0:0.0	.	454;495;495	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	Y	495;454	ENSP00000385328:S495Y;ENSP00000441969:S454Y	ENSP00000385328:S495Y	S	-	2	0	RNF43	53790652	1.000000	0.71417	0.437000	0.26809	0.262000	0.26303	9.354000	0.97083	2.160000	0.67779	0.174000	0.16983	TCT		0.577	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763	
ZBTB14	7541	broad.mit.edu	37	18	5290595	5290596	+	3'UTR	INS	-	-	A	rs556351591|rs71749678|rs57522202|rs34214240	byFrequency	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	-	-	-	-	-	-	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr18:5290595_5290596insA	ENST00000357006.4	-	0	1949_1950					NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|transcription regulatory region DNA binding (GO:0044212)										attaaaataataaaaaaaaaaa	0.411													|||unknown(HR)	1621	0.323682	0.4024	0.2983	5008	,	,		16149	0.1042		0.3986	False		,,,				2504	0.3845				.												.	.	0			.	18						.																																			5280596	SO:0001624	3_prime_UTR_variant	7541	.			D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.*262->T	18.37:g.5290606_5290606dupA			5280595	.	O00403|Q2TB80	Splice_Site	INS	ENST00000357006.4	37	CCDS11837.1																																																																																				0.411	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409	
LAMA1	284217	broad.mit.edu	37	18	6985349	6985349	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr18:6985349C>A	ENST00000389658.3	-	39	5640	c.5547G>T	c.(5545-5547)agG>agT	p.R1849S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1849	Domain II and I.				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.R1849S(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)				CTATGTGGTGCCTGATTTTGG	0.443																																					p.R1849S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5547T	18						.						173.0	155.0	161.0					18																	6985349		2203	4300	6503	6975349	SO:0001583	missense	284217	exon39			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.5547G>T	18.37:g.6985349C>A	ENSP00000374309:p.Arg1849Ser		6975349	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274515	0.40194	.	.	ENSG00000101680	ENST00000389658	T	0.18338	2.22	5.58	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	M	0.66939	2.045	0.43304	D	0.995308	D	0.76494	0.999	P	0.61477	0.889	T	0.02950	-1.1090	10	0.16896	T	0.51	.	7.5402	0.27733	0.0:0.8258:0.0:0.1742	.	1849	P25391	LAMA1_HUMAN	S	1849	ENSP00000374309:R1849S	ENSP00000374309:R1849S	R	-	3	2	LAMA1	6975349	0.785000	0.28726	0.972000	0.41901	0.080000	0.17528	1.135000	0.31454	2.631000	0.89168	0.655000	0.94253	AGG		0.443	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
DSEL	92126	broad.mit.edu	37	18	65180719	65180719	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr18:65180719G>T	ENST00000310045.7	-	2	2630	c.1157C>A	c.(1156-1158)cCt>cAt	p.P386H	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	376					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.P386H(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GGCAGTTGAAGGAACCATCGG	0.438																																					p.P386H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1157A	18						.						119.0	109.0	112.0					18																	65180719		2203	4300	6503	63331699	SO:0001583	missense	92126	exon2			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1157C>A	18.37:g.65180719G>T	ENSP00000310565:p.Pro386His		63331699	NM_032160	Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257111	0.59321	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.19669	2.13	5.46	5.46	0.80206	.	0.071687	0.56097	U	0.000022	T	0.26629	0.0651	L	0.55481	1.735	0.53688	D	0.99997	B	0.22851	0.076	B	0.22880	0.042	T	0.03463	-1.1034	10	0.62326	D	0.03	-13.7447	19.3189	0.94229	0.0:0.0:1.0:0.0	.	376	Q8IZU8	DSEL_HUMAN	H	386;376	ENSP00000310565:P386H	ENSP00000310565:P386H	P	-	2	0	DSEL	63331699	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.605000	0.67634	2.577000	0.86979	0.563000	0.77884	CCT		0.438	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160	
USHBP1	83878	broad.mit.edu	37	19	17369081	17369081	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr19:17369081C>T	ENST00000252597.3	-	8	1333	c.1160G>A	c.(1159-1161)aGg>aAg	p.R387K	AC010646.3_ENST00000594059.1_5'Flank|USHBP1_ENST00000431146.2_Missense_Mutation_p.R323K	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1									p.R387K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TGCCAGCAGCCTCCATGCTTC	0.607																																					p.R387K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1160A	19						.						94.0	80.0	85.0					19																	17369081		2203	4300	6503	17230081	SO:0001583	missense	83878	exon8			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1160G>A	19.37:g.17369081C>T	ENSP00000252597:p.Arg387Lys		17230081	NM_031941		Missense_Mutation	SNP	ENST00000252597.3	37	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	c	15.51	2.856407	0.51376	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.19806	2.13;2.12	4.11	3.07	0.35406	.	0.270973	0.32190	N	0.006450	T	0.14227	0.0344	L	0.52364	1.645	0.80722	D	1	B;B	0.32781	0.384;0.384	B;B	0.26517	0.07;0.07	T	0.03852	-1.0998	10	0.16896	T	0.51	-27.6798	6.8332	0.23921	0.0:0.8752:0.0:0.1248	.	323;387	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	K	387;323	ENSP00000252597:R387K;ENSP00000407902:R323K	ENSP00000252597:R387K	R	-	2	0	USHBP1	17230081	0.969000	0.33509	0.901000	0.35422	0.665000	0.39181	1.827000	0.39102	2.238000	0.73509	0.544000	0.68410	AGG		0.607	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941	
ATP5SL	55101	broad.mit.edu	37	19	41944268	41944268	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr19:41944268G>A	ENST00000221943.9	-	2	75	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C	ATP5SL_ENST00000597457.1_Missense_Mutation_p.R24C|ATP5SL_ENST00000301183.11_Missense_Mutation_p.R30C|ATP5SL_ENST00000589970.1_Missense_Mutation_p.R24C|ATP5SL_ENST00000417807.3_Missense_Mutation_p.R30C|ATP5SL_ENST00000590641.2_Missense_Mutation_p.R30C|ATP5SL_ENST00000592922.2_Missense_Mutation_p.R24C|ATP5SL_ENST00000438807.3_Missense_Mutation_p.R24C|ATP5SL_ENST00000595425.1_Missense_Mutation_p.R24C	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	24						mitochondrion (GO:0005739)		p.R24C(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						GCACCCAGGCGATGGATGCCC	0.602																																					p.R30C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C88T	19						.						81.0	74.0	76.0					19																	41944268		2203	4300	6503	46636108	SO:0001583	missense	55101	exon2			AK001103	CCDS33032.1, CCDS54269.1, CCDS54270.1, CCDS54271.1, CCDS59389.1, CCDS59390.1	19q13.2	2007-12-13				ENSG00000105341			25496	protein-coding gene	gene with protein product						12477932	Standard	NM_001167867		Approved	FLJ10241	uc002oqv.3	Q9NW81		ENST00000221943.9:c.70C>T	19.37:g.41944268G>A	ENSP00000221943:p.Arg24Cys		46636108	NM_001167868	B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43	Missense_Mutation	SNP	ENST00000221943.9	37	CCDS33032.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077093	0.36662	.	.	ENSG00000105341	ENST00000221943;ENST00000438807;ENST00000417807;ENST00000301183;ENST00000507129	T;T;T;T	0.24908	3.06;1.85;3.03;1.83	3.49	1.26	0.21427	.	0.545698	0.14183	N	0.335920	T	0.18551	0.0445	N	0.22421	0.69	0.09310	N	1	D;P;P;P;D;D;D	0.57571	0.976;0.949;0.949;0.949;0.963;0.963;0.98	P;B;B;B;P;P;P	0.47744	0.458;0.36;0.36;0.36;0.459;0.459;0.556	T	0.08764	-1.0706	10	0.48119	T	0.1	-22.7482	5.1569	0.15040	0.0:0.6514:0.2257:0.1229	.	30;30;24;24;24;24;30	B4DFT4;B4DDC0;Q9NW81-2;B4DMZ4;E9PDC6;Q9NW81;F5H4W7	.;.;.;.;.;AT5SL_HUMAN;.	C	24;24;30;30;100	ENSP00000221943:R24C;ENSP00000397413:R24C;ENSP00000403910:R30C;ENSP00000301183:R30C	ENSP00000221943:R24C	R	-	1	0	ATP5SL	46636108	0.033000	0.19621	0.001000	0.08648	0.007000	0.05969	0.673000	0.25203	0.440000	0.26502	-0.165000	0.13383	CGC		0.602	ATP5SL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460602.1	NM_018035	
SIGLEC6	946	broad.mit.edu	37	19	52033116	52033116	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr19:52033116C>T	ENST00000425629.3	-	5	1028	c.874G>A	c.(874-876)Gcc>Acc	p.A292T	SIGLEC6_ENST00000436458.1_Missense_Mutation_p.A240T|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.A276T|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.A292T|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.A303T|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.A281T	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	292	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.A265T(2)|p.A292T(2)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GCGTTCAGGGCGGGGAAGCCC	0.637																																					p.A292T												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.G874A	19						.						62.0	71.0	68.0					19																	52033116		2195	4296	6491	56724928	SO:0001583	missense	946	exon5			D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.874G>A	19.37:g.52033116C>T	ENSP00000401502:p.Ala292Thr		56724928	NM_001245	A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	C	0.633	-0.816569	0.02776	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	3.71	-4.34	0.03666	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.524220	0.04395	N	0.363114	T	0.43523	0.1251	L	0.37850	1.14	0.09310	N	1	B;B;B;B;B;B	0.27997	0.192;0.197;0.076;0.076;0.192;0.137	B;B;B;B;B;B	0.25140	0.014;0.024;0.034;0.034;0.014;0.058	T	0.34601	-0.9822	10	0.02654	T	1	.	1.0154	0.01506	0.1625:0.2509:0.1598:0.4268	.	303;240;281;292;276;292	F8WA78;C9JBE5;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	T	265;276;292;303;240;292	ENSP00000401502:A292T;ENSP00000353071:A303T;ENSP00000410679:A240T;ENSP00000345907:A292T	ENSP00000345907:A292T	A	-	1	0	SIGLEC6	56724928	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.099000	0.03343	-0.577000	0.05967	-0.351000	0.07748	GCC		0.637	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245	
NLRP5	126206	broad.mit.edu	37	19	56539197	56539197	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr19:56539197G>A	ENST00000390649.3	+	7	1598	c.1598G>A	c.(1597-1599)cGt>cAt	p.R533H		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	533	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.R533H(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGCTTCTGCCGTATGGCTGTG	0.572																																					p.R533H												.	.	2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)	c.G1598A	19						.						49.0	52.0	51.0					19																	56539197		2117	4226	6343	61231009	SO:0001583	missense	126206	exon7			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1598G>A	19.37:g.56539197G>A	ENSP00000375063:p.Arg533His		61231009	NM_153447	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	5.054	0.195705	0.09599	.	.	ENSG00000171487	ENST00000390649	T	0.73363	-0.74	2.97	-5.91	0.02269	.	1.292300	0.05966	N	0.641470	T	0.57169	0.2035	L	0.36672	1.1	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.40079	-0.9582	10	0.42905	T	0.14	.	3.2403	0.06778	0.4157:0.0:0.2803:0.304	.	533	P59047	NALP5_HUMAN	H	533	ENSP00000375063:R533H	ENSP00000375063:R533H	R	+	2	0	NLRP5	61231009	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.349000	0.07731	-1.130000	0.02914	0.555000	0.69702	CGT		0.572	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
MUC16	94025	broad.mit.edu	37	19	9086293	9086293	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr19:9086293G>A	ENST00000397910.4	-	1	5725	c.5522C>T	c.(5521-5523)aCc>aTc	p.T1841I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1841	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.T1841I(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						TGAATCTGTGGTATTGGGGGC	0.493																																					p.T1841I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5522T	19						.						117.0	112.0	114.0					19																	9086293		1979	4175	6154	8947293	SO:0001583	missense	94025	exon1			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5522C>T	19.37:g.9086293G>A	ENSP00000381008:p.Thr1841Ile		8947293	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.846	-0.466236	0.04476	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	0.732	-0.488	0.12056	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	B	0.27166	0.17	B	0.15052	0.012	T	0.42327	-0.9458	7	0.87932	D	0	.	.	.	.	.	1841	B5ME49	.	I	1841	ENSP00000381008:T1841I	ENSP00000381008:T1841I	T	-	2	0	MUC16	8947293	0.000000	0.05858	0.001000	0.08648	0.172000	0.22775	-0.259000	0.08721	-0.172000	0.10779	0.305000	0.20034	ACC		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
VN1R1	57191	broad.mit.edu	37	19	57966917	57966917	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr19:57966917A>T	ENST00000321039.3	-	1	937	c.938T>A	c.(937-939)gTc>gAc	p.V313D	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_5'UTR	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	313					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.V313D(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		ACATGAGGCGACCAACACAGA	0.443																																					p.V313D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T938A	19						.						86.0	92.0	90.0					19																	57966917		2203	4300	6503	62658729	SO:0001583	missense	57191	exon1			AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.938T>A	19.37:g.57966917A>T	ENSP00000322339:p.Val313Asp		62658729	NM_020633	B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.627184	0.46944	.	.	ENSG00000178201	ENST00000321039	T	0.38401	1.14	4.06	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.52468	0.1736	M	0.64997	1.995	0.09310	N	1	D	0.64830	0.994	D	0.70016	0.967	T	0.34477	-0.9827	9	0.87932	D	0	.	7.7915	0.29123	0.8974:0.0:0.1026:0.0	.	313	Q9GZP7	VN1R1_HUMAN	D	313	ENSP00000322339:V313D	ENSP00000322339:V313D	V	-	2	0	VN1R1	62658729	0.016000	0.18221	0.001000	0.08648	0.001000	0.01503	3.704000	0.54815	0.745000	0.32763	0.509000	0.49947	GTC		0.443	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633	
KCND3	3752	broad.mit.edu	37	1	112524472	112524472	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr1:112524472G>A	ENST00000315987.2	-	2	1356	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	KCND3_ENST00000369697.1_Missense_Mutation_p.R293C|KCND3_ENST00000302127.4_Missense_Mutation_p.R293C	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	293					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.R293C(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTGAAGACGCGGAAGACCCGG	0.587																																					p.R293C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C877T	1						.						78.0	80.0	79.0					1																	112524472		2203	4300	6503	112325995	SO:0001583	missense	3752	exon2			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.877C>T	1.37:g.112524472G>A	ENSP00000319591:p.Arg293Cys		112325995	NM_004980	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	CCDS843.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839308	0.71488	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.98835	-5.17;-5.17;-5.17	5.63	5.63	0.86233	Ion transport (1);	0.047854	0.85682	D	0.000000	D	0.99524	0.9830	H	0.98594	4.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98095	1.0411	10	0.87932	D	0	.	14.1682	0.65490	0.0:0.0:0.8123:0.1877	.	293;293	Q14D71;Q9UK17	.;KCND3_HUMAN	C	293	ENSP00000358711:R293C;ENSP00000319591:R293C;ENSP00000306923:R293C	ENSP00000306923:R293C	R	-	1	0	KCND3	112325995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.375000	0.59549	2.659000	0.90383	0.655000	0.94253	CGC		0.587	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198	
IGSF3	3321	broad.mit.edu	37	1	117122078	117122078	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr1:117122078C>A	ENST00000369486.3	-	10	4035	c.3270G>T	c.(3268-3270)caG>caT	p.Q1090H	IGSF3_ENST00000369483.1_Missense_Mutation_p.Q1110H|IGSF3_ENST00000318837.6_Missense_Mutation_p.Q1110H	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1090	Ig-like C2-type 8.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ACCATTCCTTCTGAGGGCTGG	0.587																																					p.Q1110H												.	.	0			c.G3330T	1						.						53.0	55.0	55.0					1																	117122078		2203	4300	6503	116923601	SO:0001583	missense	3321	exon11			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.3270G>T	1.37:g.117122078C>A	ENSP00000358498:p.Gln1090His		116923601	NM_001542	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128445	0.37533	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.22134	1.97;1.97;1.97	4.61	1.74	0.24563	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.457912	0.22047	N	0.065379	T	0.04048	0.0113	L	0.29908	0.895	0.28819	N	0.897789	P;P	0.48162	0.855;0.906	B;B	0.38056	0.212;0.264	T	0.31806	-0.9930	10	0.45353	T	0.12	-19.8583	4.2478	0.10680	0.0:0.5472:0.1688:0.2841	.	1090;1110	O75054;A6NJZ6	IGSF3_HUMAN;.	H	1090;1110;1110	ENSP00000358498:Q1090H;ENSP00000358495:Q1110H;ENSP00000321184:Q1110H	ENSP00000321184:Q1110H	Q	-	3	2	IGSF3	116923601	0.981000	0.34729	0.969000	0.41365	0.643000	0.38383	0.107000	0.15375	0.199000	0.20427	-0.448000	0.05591	CAG		0.587	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542	
CD1E	913	broad.mit.edu	37	1	158325784	158325784	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr1:158325784G>A	ENST00000368167.3	+	4	1032	c.793G>A	c.(793-795)Gag>Aag	p.E265K	CD1E_ENST00000368166.3_Missense_Mutation_p.E76K|CD1E_ENST00000368164.3_Missense_Mutation_p.E76K|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000452291.2_Missense_Mutation_p.E76K|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000444681.2_Missense_Mutation_p.E166K|CD1E_ENST00000368161.3_Missense_Mutation_p.E265K|CD1E_ENST00000368156.1_Missense_Mutation_p.E175K|CD1E_ENST00000434258.1_Missense_Mutation_p.E263K|CD1E_ENST00000368160.3_Missense_Mutation_p.E265K|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.E175K|CD1E_ENST00000368163.3_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	265	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)	p.E265K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TAATGCTGACGAGACATGGTA	0.607																																					p.E175K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G523A	1						.						111.0	108.0	109.0					1																	158325784		2203	4300	6503	156592408	SO:0001583	missense	913	exon3			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.793G>A	1.37:g.158325784G>A	ENSP00000357149:p.Glu265Lys		156592408	NM_001185107	B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	CCDS41417.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.30|10.30	1.312442|1.312442	0.23908|0.23908	.|.	.|.	ENSG00000158488|ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368164;ENST00000368160;ENST00000368161;ENST00000368156|ENST00000368162	T;T;T;T;T;T;T;T;T;T|.	0.13538|.	4.15;4.15;4.15;4.15;2.58;4.15;4.15;4.15;4.15;2.58|.	4.6|4.6	2.68|2.68	0.31781|0.31781	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);|.	0.786157|.	0.11165|.	N|.	0.592604|.	T|T	0.15003|0.15003	0.0362|0.0362	L|L	0.28556|0.28556	0.865|0.865	0.09310|0.09310	N|N	1|1	B;P;P;B;B;B;B;B;B;B;P;B;P|.	0.42357|.	0.049;0.777;0.672;0.236;0.043;0.106;0.198;0.324;0.39;0.236;0.74;0.198;0.765|.	B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.31495|.	0.101;0.131;0.131;0.055;0.055;0.051;0.019;0.115;0.121;0.055;0.125;0.019;0.127|.	T|T	0.16988|0.16988	-1.0384|-1.0384	10|5	0.56958|.	D|.	0.05|.	-3.2566|-3.2566	7.2235|7.2235	0.26002|0.26002	0.2089:0.0:0.7911:0.0|0.2089:0.0:0.7911:0.0	.|.	76;166;263;265;166;175;76;76;265;265;265;76;175|.	B4E057;B4E042;E7ET31;A2RRL5;E7EP01;P15812-5;P15812-9;P15812-10;P15812-2;P15812;P15812-3;P15812-8;P15812-6|.	.;.;.;.;.;.;.;.;.;CD1E_HUMAN;.;.;.|.	K|Q	263;166;265;76;175;76;76;265;265;175|34	ENSP00000401957:E263K;ENSP00000402906:E166K;ENSP00000357149:E265K;ENSP00000416228:E76K;ENSP00000357147:E175K;ENSP00000357148:E76K;ENSP00000357146:E76K;ENSP00000357142:E265K;ENSP00000357143:E265K;ENSP00000357138:E175K|.	ENSP00000357138:E175K|.	E|R	+|+	1|2	0|0	CD1E|CD1E	156592408|156592408	0.000000|0.000000	0.05858|0.05858	0.143000|0.143000	0.22291|0.22291	0.595000|0.595000	0.36748|0.36748	0.436000|0.436000	0.21526|0.21526	1.164000|1.164000	0.42652|0.42652	0.563000|0.563000	0.77884|0.77884	GAG|CGA		0.607	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893	
TNR	7143	broad.mit.edu	37	1	175335068	175335068	+	Missense_Mutation	SNP	C	C	T	rs370853708		TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr1:175335068C>T	ENST00000367674.2	-	11	2968	c.2260G>A	c.(2260-2262)Gtc>Atc	p.V754I	TNR_ENST00000263525.2_Missense_Mutation_p.V754I			Q92752	TENR_HUMAN	tenascin R	754	Fibronectin type-III 5. {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.V754I(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)					TCAGCAGTGACGGAAATGATG	0.547													c|||	1	0.000199681	0.0008	0.0	5008	,	,		21596	0.0		0.0	False		,,,				2504	0.0				p.V754I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2260A	1						.	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	149.0	139.0	142.0		2260	-2.3	0.0	1		142	0,8600		0,0,4300	no	missense	TNR	NM_003285.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	754/1359	175335068	1,13005	2203	4300	6503	173601691	SO:0001583	missense	7143	exon11			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.2260G>A	1.37:g.175335068C>T	ENSP00000356646:p.Val754Ile		173601691	NM_003285	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	c	0.519	-0.862862	0.02610	2.27E-4	0.0	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.70749	-0.51;-0.51	5.95	-2.33	0.06724	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.345125	0.30329	N	0.009865	T	0.47637	0.1456	N	0.21508	0.67	0.09310	N	0.999998	B	0.10296	0.003	B	0.12156	0.007	T	0.28933	-1.0028	10	0.19147	T	0.46	.	8.3035	0.32027	0.0:0.4369:0.1149:0.4482	.	754	Q92752	TENR_HUMAN	I	754	ENSP00000356646:V754I;ENSP00000263525:V754I	ENSP00000263525:V754I	V	-	1	0	TNR	173601691	0.815000	0.29118	0.016000	0.15963	0.604000	0.37047	1.376000	0.34306	-0.341000	0.08376	-1.159000	0.01794	GTC		0.547	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
PLEKHA6	22874	broad.mit.edu	37	1	204197347	204197347	+	Silent	SNP	G	G	A	rs139252016		TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr1:204197347G>A	ENST00000272203.3	-	21	3211	c.2895C>T	c.(2893-2895)aaC>aaT	p.N965N	PLEKHA6_ENST00000414478.1_Silent_p.N985N	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	965								p.N965N(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TGGGCACCACGTTCTGCATAC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		19075	0.0		0.0	False		,,,				2504	0.001				p.N965N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2895T	1						.	G		2,4404	4.2+/-10.8	0,2,2201	63.0	59.0	60.0		2895	4.6	1.0	1	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous	PLEKHA6	NM_014935.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		965/1049	204197347	2,13004	2203	4300	6503	202463970	SO:0001819	synonymous_variant	22874	exon21			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2895C>T	1.37:g.204197347G>A			202463970	NM_014935	A7MD51|Q5VTI6	Silent	SNP	ENST00000272203.3	37	CCDS1444.1																																																																																				0.622	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935	
AHCTF1	25909	broad.mit.edu	37	1	247039371	247039372	+	Missense_Mutation	DNP	TA	TA	CC			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	TA	TA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr1:247039371_247039372TA>CC	ENST00000391829.2	-	24	3178_3179	c.3055_3056TA>GG	c.(3055-3057)TAt>GGt	p.Y1019G	AHCTF1_ENST00000366508.1_Missense_Mutation_p.Y1054G|AHCTF1_ENST00000326225.3_Missense_Mutation_p.Y1028G|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1019	Disordered. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y1019>?(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGACAGATGATAAGGCTTAGCT	0.347																																					.	Colon(145;197 1800 4745 15099 26333)											.	.	1	Complex(1)	large_intestine(1)	c.3082_3083GG	1						.																																			245105995	SO:0001583	missense	25909	exon24				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3055_3056delinsCC	1.37:g.247039371_247039372delinsCC	ENSP00000375705:p.Tyr1019Gly		245105994	NM_015446	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	DNP	ENST00000391829.2	37																																																																																					0.347	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446	
GRIK3	2899	broad.mit.edu	37	1	37337854	37337854	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr1:37337854G>A	ENST00000373091.3	-	4	683	c.667C>T	c.(667-669)Cga>Tga	p.R223*	GRIK3_ENST00000373093.4_Nonsense_Mutation_p.R223*	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	223					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.R223*(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TCCCGGCCTCGCTTCATCTCC	0.592																																					p.R223X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C667T	1						.						84.0	72.0	77.0					1																	37337854		2203	4300	6503	37110441	SO:0001587	stop_gained	2899	exon4			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.667C>T	1.37:g.37337854G>A	ENSP00000362183:p.Arg223*		37110441	NM_000831	A9Z1Z8|B1AMS6|Q13004|Q16136	Nonsense_Mutation	SNP	ENST00000373091.3	37	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	36	5.836188	0.97009	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	.	.	.	5.22	4.23	0.50019	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7237	0.77736	0.0:0.0:0.8348:0.1652	.	.	.	.	X	223	.	ENSP00000362183:R223X	R	-	1	2	GRIK3	37110441	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	1.326000	0.33735	2.460000	0.83146	0.561000	0.74099	CGA		0.592	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831	
CACHD1	57685	broad.mit.edu	37	1	65117973	65117973	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr1:65117973C>A	ENST00000371073.2	+	10	1520	c.1520C>A	c.(1519-1521)aCt>aAt	p.T507N	CACHD1_ENST00000290039.5_Missense_Mutation_p.T456N|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	507	Cache 1.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.T456N(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCTTCCTATACTTTTCTCATA	0.343																																					p.T456N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1367A	1						.						178.0	151.0	160.0					1																	65117973		2203	4300	6503	64890561	SO:0001583	missense	57685	exon10			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1520C>A	1.37:g.65117973C>A	ENSP00000360113:p.Thr507Asn		64890561	NM_020925	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37		.	.	.	.	.	.	.	.	.	.	C	33	5.255550	0.95336	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.23552	1.9;1.91	6.07	6.07	0.98685	Cache (1);	0.000000	0.85682	D	0.000000	T	0.36220	0.0959	L	0.32530	0.975	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	T	0.08576	-1.0715	10	0.66056	D	0.02	-22.4798	20.6593	0.99626	0.0:1.0:0.0:0.0	.	507	Q5VU97	CAHD1_HUMAN	N	507;456	ENSP00000360113:T507N;ENSP00000290039:T456N	ENSP00000290039:T456N	T	+	2	0	CACHD1	64890561	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	ACT		0.343	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925	
IL12RB2	3595	broad.mit.edu	37	1	67795285	67795285	+	Missense_Mutation	SNP	C	C	T	rs374006496		TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr1:67795285C>T	ENST00000262345.1	+	6	1320	c.680C>T	c.(679-681)cCg>cTg	p.P227L	IL12RB2_ENST00000371000.1_Missense_Mutation_p.P227L|IL12RB2_ENST00000541374.1_Missense_Mutation_p.P227L|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P227L	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	227	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)	p.P227L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CCTCTTCCTCCGTGGGACATT	0.428																																					p.P227L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C680T	1						.						119.0	115.0	117.0					1																	67795285		2203	4300	6503	67567873	SO:0001583	missense	3595	exon6			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.680C>T	1.37:g.67795285C>T	ENSP00000262345:p.Pro227Leu		67567873	NM_001559	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	CCDS638.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024516	0.75390	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	5.06	5.06	0.68205	Fibronectin, type III (3);	0.100277	0.64402	D	0.000001	D	0.87505	0.6194	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	D	0.88934	0.3375	10	0.87932	D	0	-20.4773	14.2792	0.66200	0.0:1.0:0.0:0.0	.	227;227;227;227	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	L	227	ENSP00000262345:P227L;ENSP00000360039:P227L;ENSP00000445276:P227L;ENSP00000442443:P227L	ENSP00000262345:P227L	P	+	2	0	IL12RB2	67567873	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.906000	0.56340	2.501000	0.84356	0.561000	0.74099	CCG		0.428	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559	
NEXN	91624	broad.mit.edu	37	1	78407826	78407826	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr1:78407826G>T	ENST00000334785.7	+	12	1776	c.1592G>T	c.(1591-1593)aGa>aTa	p.R531I	FUBP1_ENST00000489495.1_5'Flank|NEXN_ENST00000330010.8_Missense_Mutation_p.R467I|NEXN_ENST00000457030.1_Missense_Mutation_p.R517I|NEXN_ENST00000480732.2_3'UTR	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)									p.R531I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAACAAAGAAGAATTGAAGAA	0.378																																					p.R531I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1592T	1						.						80.0	72.0	75.0					1																	78407826		1849	4110	5959	78180414	SO:0001583	missense	91624	exon12			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.1592G>T	1.37:g.78407826G>T	ENSP00000333938:p.Arg531Ile		78180414	NM_144573		Missense_Mutation	SNP	ENST00000334785.7	37	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.764186|4.764186	0.89932|0.89932	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000342754|ENST00000457030;ENST00000330010;ENST00000334785	.|T;T;T	.|0.64085	.|-0.08;-0.07;0.02	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.111415	.|0.39341	.|N	.|0.001397	.|T	.|0.75406	.|0.3845	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;1.0;0.999;0.999	.|D;D;D;D	.|0.76575	.|0.972;0.988;0.972;0.972	.|T	.|0.72447	.|-0.4291	.|10	.|0.36615	.|T	.|0.2	-19.7913|-19.7913	19.6058|19.6058	0.95582|0.95582	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|467;517;531;467	.|D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7	.|.;.;NEXN_HUMAN;.	X|I	431|517;467;531	.|ENSP00000388048:R517I;ENSP00000327363:R467I;ENSP00000333938:R531I	.|ENSP00000327363:R467I	E|R	+|+	1|2	0|0	NEXN|NEXN	78180414|78180414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.956000|7.956000	0.87863|0.87863	2.619000|2.619000	0.88677|0.88677	0.585000|0.585000	0.79938|0.79938	GAA|AGA		0.378	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573	
OR2T1	26696	broad.mit.edu	37	1	248569666	248569666	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr1:248569666T>C	ENST00000366474.1	+	1	371	c.371T>C	c.(370-372)aTt>aCt	p.I124T		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I124T(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			ATGATGTATATTTCCACTATT	0.448																																					p.I124T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T371C	1						.						183.0	172.0	176.0					1																	248569666		2203	4300	6503	246636289	SO:0001583	missense	26696	exon1			U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.371T>C	1.37:g.248569666T>C	ENSP00000355430:p.Ile124Thr		246636289	NM_030904	Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	t	12.83	2.055783	0.36277	.	.	ENSG00000175143	ENST00000366474	T	0.00601	6.29	4.75	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37393	U	0.002112	T	0.00552	0.0018	N	0.02181	-0.65	0.09310	N	0.999999	D	0.69078	0.997	D	0.66847	0.947	T	0.61382	-0.7074	10	0.46703	T	0.11	.	4.1981	0.10453	0.0:0.1664:0.1841:0.6495	.	124	O43869	OR2T1_HUMAN	T	124	ENSP00000355430:I124T	ENSP00000355430:I124T	I	+	2	0	OR2T1	246636289	0.000000	0.05858	1.000000	0.80357	0.702000	0.40608	-0.306000	0.08178	1.993000	0.58246	0.528000	0.53228	ATT		0.448	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2		
LAMP5	24141	broad.mit.edu	37	20	9498804	9498804	+	Missense_Mutation	SNP	C	C	T	rs202101525	byFrequency	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr20:9498804C>T	ENST00000246070.2	+	5	1085	c.593C>T	c.(592-594)aCg>aTg	p.T198M	LAMP5_ENST00000427562.2_Missense_Mutation_p.T154M	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	198						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)		p.T198M(1)									CCGCAGAAGACGGTCACCATG	0.507													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19678	0.0		0.001	False		,,,				2504	0.0				p.T154M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C461T	20						.	C	MET/THR,MET/THR	0,4406		0,0,2203	133.0	108.0	116.0		461,593	4.9	0.7	20		116	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	C20orf103	NM_001199897.1,NM_012261.3	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	154/237,198/281	9498804	1,13005	2203	4300	6503	9446804	SO:0001583	missense	24141	exon4			AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.593C>T	20.37:g.9498804C>T	ENSP00000246070:p.Thr198Met		9446804	NM_001199897	B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	ENST00000246070.2	37	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	C	6.259	0.415938	0.11870	0.0	1.16E-4	ENSG00000125869	ENST00000246070;ENST00000427562	T;T	0.46451	1.46;0.87	5.84	4.89	0.63831	.	0.328684	0.37348	N	0.002133	T	0.38427	0.1040	N	0.19112	0.55	0.27225	N	0.959551	D;B	0.58620	0.983;0.329	P;B	0.51582	0.674;0.058	T	0.21415	-1.0246	9	.	.	.	-7.6681	14.0026	0.64442	0.0:0.8691:0.0:0.1309	.	154;198	Q9UJQ1-2;Q9UJQ1	.;CT103_HUMAN	M	198;154	ENSP00000246070:T198M;ENSP00000406360:T154M	.	T	+	2	0	C20orf103	9446804	0.998000	0.40836	0.714000	0.30535	0.194000	0.23727	3.250000	0.51445	0.838000	0.34948	-0.797000	0.03246	ACG		0.507	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261	
SEL1L2	80343	broad.mit.edu	37	20	13868480	13868480	+	Missense_Mutation	SNP	G	G	A	rs372260139		TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr20:13868480G>A	ENST00000284951.5	-	8	754	c.680C>T	c.(679-681)tCg>tTg	p.S227L	SEL1L2_ENST00000378072.5_Missense_Mutation_p.S227L|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	227						integral component of membrane (GO:0016021)		p.S227L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ATTGATTCCCGACAAATATCT	0.303																																					p.S227L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C680T	20						.	G	LEU/SER	1,3661		0,1,1830	131.0	127.0	128.0		680	5.7	1.0	20		128	0,8160		0,0,4080	no	missense	SEL1L2	NM_025229.1	145	0,1,5910	AA,AG,GG		0.0,0.0273,0.0085	possibly-damaging	227/689	13868480	1,11821	1831	4080	5911	13816480	SO:0001583	missense	80343	exon8			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.680C>T	20.37:g.13868480G>A	ENSP00000284951:p.Ser227Leu		13816480	NM_025229	B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37		.	.	.	.	.	.	.	.	.	.	G	14.60	2.583741	0.46006	2.73E-4	0.0	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.51817	0.69;0.69	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);	0.133415	0.34853	N	0.003627	T	0.48333	0.1494	M	0.64080	1.96	0.37370	D	0.911584	B;D	0.57571	0.323;0.98	B;P	0.46110	0.095;0.504	T	0.50516	-0.8819	10	0.12103	T	0.63	-9.039	15.3235	0.74141	0.0:0.0:1.0:0.0	.	227;227	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	L	227	ENSP00000367312:S227L;ENSP00000284951:S227L	ENSP00000284951:S227L	S	-	2	0	SEL1L2	13816480	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.574000	0.53863	2.674000	0.91012	0.650000	0.86243	TCG		0.303	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229	
CCT8L2	150160	broad.mit.edu	37	22	17072807	17072807	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr22:17072807T>A	ENST00000359963.3	-	1	893	c.634A>T	c.(634-636)Aca>Tca	p.T212S		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	212					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.T212S(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCCTCCAGTGTCCCCCCGGGC	0.612																																					p.T212S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A634T	22						.						65.0	64.0	65.0					22																	17072807		2203	4300	6503	15452807	SO:0001583	missense	150160	exon1			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.634A>T	22.37:g.17072807T>A	ENSP00000353048:p.Thr212Ser		15452807	NM_014406	A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	t	8.580	0.882137	0.17467	.	.	ENSG00000198445	ENST00000359963	T	0.76578	-1.03	1.78	-2.27	0.06846	.	1.559240	0.05009	U	0.470569	T	0.37892	0.1020	N	0.00583	-1.355	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.47433	-0.9118	10	0.02654	T	1	-0.344	2.9992	0.06008	0.0:0.3993:0.2713:0.3293	.	212	Q96SF2	TCPQM_HUMAN	S	212	ENSP00000353048:T212S	ENSP00000353048:T212S	T	-	1	0	CCT8L2	15452807	0.000000	0.05858	0.001000	0.08648	0.095000	0.18619	-0.176000	0.09811	-0.494000	0.06669	0.312000	0.20444	ACA		0.612	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1		
MOV10L1	54456	broad.mit.edu	37	22	50552163	50552163	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr22:50552163C>A	ENST00000262794.5	+	6	913	c.830C>A	c.(829-831)aCg>aAg	p.T277K	MOV10L1_ENST00000545383.1_Missense_Mutation_p.T277K|MOV10L1_ENST00000540615.1_Missense_Mutation_p.T257K|MOV10L1_ENST00000395858.3_Missense_Mutation_p.T277K|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	277					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ACACAGGTGACGCATTTTGGA	0.418																																					p.T277K												.	.	0			c.C830A	22						.						119.0	109.0	112.0					22																	50552163		2203	4300	6503	48894290	SO:0001583	missense	54456	exon6			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.830C>A	22.37:g.50552163C>A	ENSP00000262794:p.Thr277Lys		48894290	NM_001164104	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768775	0.69878	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.87571	-2.09;-2.09;-1.68;-2.27	6.17	6.17	0.99709	.	0.145922	0.64402	D	0.000006	D	0.93370	0.7886	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.987;0.971;0.971	D	0.91586	0.5283	10	0.39692	T	0.17	-25.8821	19.6509	0.95805	0.0:1.0:0.0:0.0	.	38;257;277;277	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	K	277;277;277;257	ENSP00000438978:T277K;ENSP00000262794:T277K;ENSP00000379199:T277K;ENSP00000438542:T257K	ENSP00000262794:T277K	T	+	2	0	MOV10L1	48894290	0.979000	0.34478	0.242000	0.24170	0.507000	0.33981	2.578000	0.46051	2.941000	0.99782	0.655000	0.94253	ACG		0.418	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	
GPR45	11250	broad.mit.edu	37	2	105858332	105858332	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr2:105858332C>T	ENST00000258456.1	+	1	133	c.17C>T	c.(16-18)aCg>aTg	p.T6M		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T6M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TGCAACAGCACGTCCCTTGAG	0.607																																					p.T6M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C17T	2						.						67.0	64.0	65.0					2																	105858332		2203	4300	6503	105224764	SO:0001583	missense	11250	exon1			AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.17C>T	2.37:g.105858332C>T	ENSP00000258456:p.Thr6Met		105224764	NM_007227	Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835727	0.32421	.	.	ENSG00000135973	ENST00000258456	T	0.73152	-0.72	5.49	4.59	0.56863	.	0.462900	0.19759	N	0.106713	T	0.61949	0.2388	L	0.27053	0.805	0.22171	N	0.999318	D	0.54047	0.964	B	0.43623	0.425	T	0.58907	-0.7553	10	0.87932	D	0	-19.156	15.0609	0.71951	0.0:0.8569:0.1431:0.0	.	6	Q9Y5Y3	GPR45_HUMAN	M	6	ENSP00000258456:T6M	ENSP00000258456:T6M	T	+	2	0	GPR45	105224764	0.001000	0.12720	0.679000	0.29978	0.200000	0.23975	0.982000	0.29539	1.271000	0.44313	0.462000	0.41574	ACG		0.607	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227	
MARCO	8685	broad.mit.edu	37	2	119726780	119726780	+	Missense_Mutation	SNP	G	G	A	rs374405181		TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr2:119726780G>A	ENST00000327097.4	+	2	277	c.142G>A	c.(142-144)Gtg>Atg	p.V48M	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	48					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.V48M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CTCCCTAGCTGTGGTGGTCAT	0.577																																					p.V48M	GBM(8;18 374 7467 11269 32796)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G142A	2						.	G	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	142.0	126.0	132.0		142	-10.3	0.0	2		132	0,8600		0,0,4300	no	missense	MARCO	NM_006770.3	21	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	48/521	119726780	2,13004	2203	4300	6503	119443250	SO:0001583	missense	8685	exon2			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.142G>A	2.37:g.119726780G>A	ENSP00000318916:p.Val48Met		119443250	NM_006770	B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	G	0.094	-1.162078	0.01673	4.54E-4	0.0	ENSG00000019169	ENST00000327097;ENST00000410021	D	0.91011	-2.77	5.14	-10.3	0.00346	.	2.961790	0.00868	N	0.001983	T	0.78824	0.4344	N	0.14661	0.345	0.09310	N	0.999999	B	0.12013	0.005	B	0.06405	0.002	T	0.67284	-0.5709	9	.	.	.	.	8.2088	0.31471	0.0801:0.4647:0.3175:0.1377	.	48	Q9UEW3	MARCO_HUMAN	M	48	ENSP00000318916:V48M	.	V	+	1	0	MARCO	119443250	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-2.914000	0.00697	-4.973000	0.00025	-0.793000	0.03317	GTG		0.577	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770	
R3HDM1	23518	broad.mit.edu	37	2	136467655	136467655	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr2:136467655G>A	ENST00000264160.4	+	22	2855	c.2485G>A	c.(2485-2487)Ggg>Agg	p.G829R	R3HDM1_ENST00000329971.3_Missense_Mutation_p.G700R|R3HDM1_ENST00000409478.1_Missense_Mutation_p.G701R|R3HDM1_ENST00000410054.1_Missense_Mutation_p.G774R|R3HDM1_ENST00000409606.1_Missense_Mutation_p.G830R	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	829							poly(A) RNA binding (GO:0044822)	p.G829R(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ACCTGGTGGGGGGATGGTGAT	0.453											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G829R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2485A	2						.						95.0	92.0	93.0					2																	136467655		2203	4300	6503	136184125	SO:0001583	missense	23518	exon22			D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.2485G>A	2.37:g.136467655G>A	ENSP00000264160:p.Gly829Arg	1626	136184125	NM_015361	A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.559978|4.559978	0.86335|0.86335	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000429703|ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	T|T;T;T;T;T	0.45668|0.72394	0.89|-0.49;0.4;-0.52;-0.65;0.4	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.121195|0.121195	0.56097|0.56097	D|D	0.000031|0.000031	D|D	0.83478|0.83478	0.5263|0.5263	M|M	0.66939|0.66939	2.045|2.045	0.47659|0.47659	D|D	0.999484|0.999484	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.999	D|D	0.85041|0.85041	0.0923|0.0923	8|10	0.46703|0.72032	T|D	0.11|0.01	-8.6574|-8.6574	18.5376|18.5376	0.91015|0.91015	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|701;830;774;829	.|G5E9G8;E9PBB4;E9PG42;Q15032	.|.;.;.;R3HD1_HUMAN	E|R	552|701;829;700;774;830	ENSP00000403406:G552E|ENSP00000386457:G701R;ENSP00000264160:G829R;ENSP00000331396:G700R;ENSP00000386877:G774R;ENSP00000387010:G830R	ENSP00000403406:G552E|ENSP00000264160:G829R	G|G	+|+	2|1	0|0	R3HDM1|R3HDM1	136184125|136184125	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	5.841000|5.841000	0.69409|0.69409	2.460000|2.460000	0.83146|0.83146	0.650000|0.650000	0.86243|0.86243	GGG|GGG		0.453	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361	
TTN	7273	broad.mit.edu	37	2	179612339	179612339	+	Intron	SNP	C	C	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr2:179612339C>A	ENST00000591111.1	-	45	10585				TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.V4930F|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA			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.V4930F(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)			TCACTCTGGACAAGCTTTGCC	0.443																																					p.V4930F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G14788T	2						.						121.0	116.0	118.0					2																	179612339		2203	4300	6503	179320584	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+5511G>T	2.37:g.179612339C>A			179320584	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	17.47	3.397647	0.62177	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.59364	0.27	5.79	3.84	0.44239	.	.	.	.	.	T	0.41719	0.1171	L	0.28274	0.84	0.20975	N	0.999814	B	0.06786	0.001	B	0.09377	0.004	T	0.31081	-0.9956	9	0.62326	D	0.03	.	5.6953	0.17853	0.24:0.6618:0.0:0.0982	.	4930	Q8WZ42-6	.	F	4930;244	ENSP00000354117:V4930F	ENSP00000304714:V244F	V	-	1	0	TTN	179320584	0.003000	0.15002	0.060000	0.19600	0.640000	0.38277	0.492000	0.22435	1.452000	0.47756	0.655000	0.94253	GTC		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179647539	179647539	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr2:179647539C>T	ENST00000591111.1	-	18	3318	c.3094G>A	c.(3094-3096)Gtg>Atg	p.V1032M	TTN_ENST00000460472.2_Missense_Mutation_p.V986M|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.V1032M|TTN_ENST00000342175.6_Missense_Mutation_p.V986M|TTN_ENST00000342992.6_Missense_Mutation_p.V1032M|TTN_ENST00000589042.1_Missense_Mutation_p.V1032M|TTN_ENST00000359218.5_Missense_Mutation_p.V986M			Q8WZ42	TITIN_HUMAN	titin	32579					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.V986M(3)|p.V1032M(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)			TAACCCTGCACAGCCAGATAG	0.493																																					p.V1032M												.	.	5	Substitution - Missense(5)	large_intestine(5)	c.G3094A	2						.						76.0	62.0	66.0					2																	179647539		2203	4300	6503	179355784	SO:0001583	missense	7273	exon18			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.3094G>A	2.37:g.179647539C>T	ENSP00000465570:p.Val1032Met		179355784	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	17.45	3.392115	0.62066	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	6.17	6.17	0.99709	Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91955	0.7452	M	0.93462	3.42	0.43965	D	0.996641	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	0.92648	0.6130	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	986;986;986;1032;1032	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	M	1032;986;986;986;986;1032	ENSP00000343764:V1032M;ENSP00000434586:V986M;ENSP00000340554:V986M;ENSP00000352154:V986M;ENSP00000354117:V1032M	ENSP00000340554:V986M	V	-	1	0	TTN	179355784	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.792000	0.85828	2.941000	0.99782	0.655000	0.94253	GTG		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
PROKR1	10887	broad.mit.edu	37	2	68882442	68882442	+	Missense_Mutation	SNP	G	G	A	rs143892402		TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr2:68882442G>A	ENST00000303786.3	+	3	1336	c.916G>A	c.(916-918)Gtg>Atg	p.V306M	PROKR1_ENST00000394342.2_Missense_Mutation_p.V306M			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	306					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.V306M(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTTCACCATCGTGCGCGACTT	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		22077	0.0		0.0	False		,,,				2504	0.001				p.V306M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G916A	2						.						148.0	110.0	123.0					2																	68882442		2203	4300	6503	68735946	SO:0001583	missense	10887	exon2			AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.916G>A	2.37:g.68882442G>A	ENSP00000303775:p.Val306Met		68735946	NM_138964	A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364317	0.61513	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.39406	1.08;1.08	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.113799	0.64402	D	0.000012	T	0.44891	0.1315	L	0.46670	1.46	0.43003	D	0.994526	D	0.57899	0.981	P	0.47786	0.557	T	0.46484	-0.9188	10	0.62326	D	0.03	.	15.9178	0.79535	0.0:0.0:1.0:0.0	.	306	Q8TCW9	PKR1_HUMAN	M	306	ENSP00000303775:V306M;ENSP00000377874:V306M	ENSP00000303775:V306M	V	+	1	0	PROKR1	68735946	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.855000	0.55957	2.884000	0.98904	0.655000	0.94253	GTG		0.587	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2		
PCBP1	5093	broad.mit.edu	37	2	70315174	70315174	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr2:70315174T>A	ENST00000303577.5	+	1	590	c.299T>A	c.(298-300)cTg>cAg	p.L100Q	PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	100	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.L100P(1)|p.L100Q(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						CCGGTCACCCTGAGGCTGGTG	0.602																																					p.L100Q	Colon(85;1146 1307 3484 18706 25380)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T299A	2						.						59.0	73.0	68.0					2																	70315174		2201	4300	6501	70168678	SO:0001583	missense	5093	exon1				CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein E1"""	601209	"""poly(rC)-binding protein 1"""			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.299T>A	2.37:g.70315174T>A	ENSP00000305556:p.Leu100Gln		70168678	NM_006196	Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	37	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	T	18.11	3.551119	0.65311	.	.	ENSG00000169564	ENST00000303577	T	0.30714	1.52	4.16	4.16	0.48862	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.168590	0.40469	U	0.001094	T	0.60573	0.2279	M	0.91459	3.21	0.54753	D	0.999986	D	0.71674	0.998	D	0.70487	0.969	T	0.69781	-0.5052	10	0.87932	D	0	.	11.8577	0.52449	0.0:0.0:0.0:1.0	.	100	Q15365	PCBP1_HUMAN	Q	100	ENSP00000305556:L100Q	ENSP00000305556:L100Q	L	+	2	0	PCBP1	70168678	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.884000	0.69729	2.120000	0.65058	0.477000	0.44152	CTG		0.602	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	NM_006196	
STAT4	6775	broad.mit.edu	37	2	191929583	191929583	+	Silent	SNP	G	G	A	rs557179689		TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr2:191929583G>A	ENST00000392320.2	-	8	1046	c.732C>T	c.(730-732)atC>atT	p.I244I	STAT4_ENST00000358470.4_Silent_p.I244I	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	244					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.I244I(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CGATGCAGGCGATTTGCTGCC	0.488													g|||	1	0.000199681	0.0	0.0014	5008	,	,		15516	0.0		0.0	False		,,,				2504	0.0				p.I244I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C732T	2						.						123.0	133.0	130.0					2																	191929583		2203	4300	6503	191637828	SO:0001819	synonymous_variant	6775	exon8				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.732C>T	2.37:g.191929583G>A			191637828	NM_003151	Q96NZ6	Silent	SNP	ENST00000392320.2	37	CCDS2310.1																																																																																				0.488	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151	
GMPS	8833	broad.mit.edu	37	3	155632238	155632238	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr3:155632238G>T	ENST00000496455.2	+	8	1252	c.917G>T	c.(916-918)gGa>gTa	p.G306V	GMPS_ENST00000295920.7_Missense_Mutation_p.G207V	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	306	GMPS ATP-PPase. {ECO:0000255|PROSITE- ProRule:PRU00886}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)	p.G306V(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	TTCTACAATGGAACAACAACC	0.338			T	MLL	AML																																p.G306V	Ovarian(153;896 1876 4149 15499 28134)		Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G917T	3						.						114.0	106.0	108.0					3																	155632238		1834	4079	5913	157114932	SO:0001583	missense	8833	exon8			U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.917G>T	3.37:g.155632238G>T	ENSP00000419851:p.Gly306Val		157114932	NM_003875	A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	ENST00000496455.2	37	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731183	0.89390	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	.	.	.	5.88	4.97	0.65823	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.80465	0.4628	M	0.86028	2.79	0.80722	D	1	D;D	0.76494	0.978;0.999	P;D	0.68039	0.724;0.955	D	0.83494	0.0071	9	0.87932	D	0	-17.8339	16.463	0.84070	0.0:0.0:0.8684:0.1316	.	207;306	F8W720;P49915	.;GUAA_HUMAN	V	306;207;255;306	.	ENSP00000295920:G207V	G	+	2	0	GMPS	157114932	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.498000	0.81546	2.780000	0.95670	0.655000	0.94253	GGA		0.338	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2		
SPATA16	83893	broad.mit.edu	37	3	172834945	172834945	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr3:172834945C>T	ENST00000351008.3	-	2	760	c.577G>A	c.(577-579)Gcc>Acc	p.A193T		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	193					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)		p.A193T(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GCTGCCAAGGCGTATTTCTTT	0.403																																					p.A193T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G577A	3						.						151.0	148.0	149.0					3																	172834945		2203	4300	6503	174317639	SO:0001583	missense	83893	exon2			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.577G>A	3.37:g.172834945C>T	ENSP00000341765:p.Ala193Thr		174317639	NM_031955	Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427820	0.83667	.	.	ENSG00000144962	ENST00000351008	T	0.24151	1.87	5.7	5.7	0.88788	Tetratricopeptide-like helical (1);	0.105246	0.42053	D	0.000766	T	0.39145	0.1067	L	0.29908	0.895	0.34950	D	0.75116	D	0.76494	0.999	D	0.64237	0.923	T	0.48422	-0.9037	10	0.87932	D	0	-3.3927	17.6138	0.88063	0.0:1.0:0.0:0.0	.	193	Q9BXB7	SPT16_HUMAN	T	193	ENSP00000341765:A193T	ENSP00000341765:A193T	A	-	1	0	SPATA16	174317639	0.930000	0.31532	0.158000	0.22627	0.941000	0.58515	2.172000	0.42463	2.677000	0.91161	0.650000	0.86243	GCC		0.403	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955	
ARPP21	10777	broad.mit.edu	37	3	35778793	35778793	+	Missense_Mutation	SNP	C	C	T	rs142886822		TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr3:35778793C>T	ENST00000187397.4	+	16	2039	c.1583C>T	c.(1582-1584)cCg>cTg	p.P528L	ARPP21_ENST00000337271.5_Missense_Mutation_p.P474L|ARPP21_ENST00000444190.1_Missense_Mutation_p.P474L|ARPP21_ENST00000417925.1_Missense_Mutation_p.P494L|ARPP21_ENST00000458225.1_Missense_Mutation_p.P494L	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	528	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.P528L(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CAGCCCTCCCCGCAGCCCCAA	0.647																																					p.P528L												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.C1583T	3						.	C	LEU/PRO	0,4404		0,0,2202	31.0	36.0	34.0		1583	5.0	0.3	3	dbSNP_134	34	2,8590		0,2,4294	no	missense	ARPP21	NM_016300.4	98	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	528/813	35778793	2,12994	2202	4296	6498	35753797	SO:0001583	missense	10777	exon16			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1583C>T	3.37:g.35778793C>T	ENSP00000187397:p.Pro528Leu		35753797	NM_016300	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623690	0.46840	0.0	2.33E-4	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.81;0.79	5.91	5.04	0.67666	.	0.260094	0.28360	N	0.015626	T	0.37758	0.1015	M	0.62723	1.935	0.51482	D	0.999926	P;P;P;P	0.46621	0.549;0.641;0.881;0.549	B;B;B;B	0.29077	0.077;0.072;0.098;0.052	T	0.35251	-0.9796	10	0.15952	T	0.53	-4.0219	15.1237	0.72465	0.0:0.9324:0.0:0.0676	.	494;16;528;474	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	L	494;474;474;528;494	ENSP00000414351:P494L;ENSP00000337792:P474L;ENSP00000405276:P474L;ENSP00000187397:P528L;ENSP00000412326:P494L	ENSP00000187397:P528L	P	+	2	0	ARPP21	35753797	0.344000	0.24827	0.258000	0.24420	0.429000	0.31625	3.849000	0.55910	1.517000	0.48917	-0.140000	0.14226	CCG		0.647	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399	
MAGI1	9223	broad.mit.edu	37	3	65376868	65376868	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr3:65376868G>T	ENST00000497477.2	-	14	2364	c.2365C>A	c.(2365-2367)Cca>Aca	p.P789T	MAGI1_ENST00000483466.1_Missense_Mutation_p.P789T|MAGI1_ENST00000402939.2_Missense_Mutation_p.P789T|MAGI1_ENST00000330909.8_Missense_Mutation_p.P789T			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	789					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.P789T(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AAAGGATCTGGTTTTTTCTGG	0.567																																					p.P789T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2365A	3						.						96.0	96.0	96.0					3																	65376868		2203	4300	6503	65351908	SO:0001583	missense	9223	exon14			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2365C>A	3.37:g.65376868G>T	ENSP00000424369:p.Pro789Thr		65351908	NM_015520	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.516730|4.516730	0.85495|0.85495	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	.|T;T;T;T;T;T	.|0.24908	.|2.42;2.21;2.21;2.22;1.83;2.02	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.103697	.|0.64402	.|D	.|0.000002	T|T	0.51278|0.51278	0.1665|0.1665	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D;B;D;D;D	.|0.89917	.|0.998;0.033;1.0;1.0;0.998	.|D;B;D;D;D	.|0.87578	.|0.96;0.04;0.992;0.998;0.974	T|T	0.20472|0.20472	-1.0274|-1.0274	5|10	.|0.35671	.|T	.|0.21	-8.0913|-8.0913	20.5407|20.5407	0.99260|0.99260	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|789;789;789;789;789	.|A8K188;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;.;.;.;.	K|T	669|789;789;685;664;789;789;575	.|ENSP00000385450:P789T;ENSP00000331157:P789T;ENSP00000418177:P664T;ENSP00000420323:P789T;ENSP00000424369:P789T;ENSP00000420796:P575T	.|ENSP00000331157:P789T	N|P	-|-	3|1	2|0	MAGI1|MAGI1	65351908|65351908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	9.476000|9.476000	0.97823|0.97823	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	AAC|CCA		0.567	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742	
PIK3CA	5290	broad.mit.edu	37	3	178936094	178936094	+	Missense_Mutation	SNP	C	C	A	rs121913286		TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr3:178936094C>A	ENST00000263967.3	+	10	1793	c.1636C>A	c.(1636-1638)Cag>Aag	p.Q546K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q546K(89)|p.Q546E(12)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATCACTGAGCAGGAGAAAGA	0.358		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.Q546K	Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	PIK3CA,large_intestine,colon,Substitution - Missense,-1 	.	101	Substitution - Missense(101)	large_intestine(55)|breast(17)|endometrium(15)|central_nervous_system(3)|lung(3)|ovary(3)|skin(2)|cervix(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)	c.C1636A	3						.						61.0	61.0	61.0					3																	178936094		1814	4072	5886	180418788	SO:0001583	missense	5290	exon10				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1636C>A	3.37:g.178936094C>A	ENSP00000263967:p.Gln546Lys		180418788	NM_006218	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838482	0.91117	.	.	ENSG00000121879	ENST00000263967	T	0.62232	0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	M	0.64404	1.975	0.80722	D	1	D	0.58970	0.984	P	0.58660	0.843	T	0.73833	-0.3858	10	0.46703	T	0.11	-14.2064	20.0024	0.97423	0.0:1.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	K	546	ENSP00000263967:Q546K	ENSP00000263967:Q546K	Q	+	1	0	PIK3CA	180418788	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.487000	0.81328	2.722000	0.93159	0.467000	0.42956	CAG		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
CRIPAK	285464	broad.mit.edu	37	4	1389481	1389481	+	Silent	SNP	C	C	T	rs149222149		TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr4:1389481C>T	ENST00000324803.4	+	1	4142	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	394	Interaction with PAK1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P394P(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGGAGTGCCCGCCTGCTCAC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		18050	0.0		0.001	False		,,,				2504	0.0				p.P394P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1182T	4						.						197.0	191.0	193.0					4																	1389481		2203	4300	6503	1379481	SO:0001819	synonymous_variant	285464	exon1			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1182C>T	4.37:g.1389481C>T			1379481	NM_175918	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																				0.612	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
CENPE	1062	broad.mit.edu	37	4	104080357	104080357	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr4:104080357T>C	ENST00000265148.3	-	22	2500	c.2411A>G	c.(2410-2412)gAc>gGc	p.D804G	CENPE_ENST00000380026.3_Missense_Mutation_p.D779G	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	804					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.D804G(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AGTTGCTAGGTCATCTTTTGT	0.318																																					p.D804G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2411G	4						.						131.0	133.0	132.0					4																	104080357		2203	4300	6503	104299806	SO:0001583	missense	1062	exon22			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2411A>G	4.37:g.104080357T>C	ENSP00000265148:p.Asp804Gly		104299806	NM_001813	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.296632	0.23650	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.78126	-1.15;-1.15;-1.15	5.03	2.52	0.30459	.	.	.	.	.	T	0.77054	0.4074	L	0.60455	1.87	0.09310	N	1	B;D	0.57257	0.023;0.979	B;P	0.49999	0.015;0.628	T	0.65755	-0.6091	9	0.59425	D	0.04	.	6.9284	0.24428	0.1336:0.0732:0.0:0.7933	.	779;804	Q02224-3;Q02224	.;CENPE_HUMAN	G	804;804;779;804	ENSP00000265148:D804G;ENSP00000369365:D779G;ENSP00000423981:D804G	ENSP00000265148:D804G	D	-	2	0	CENPE	104299806	0.031000	0.19500	0.023000	0.16930	0.126000	0.20510	0.500000	0.22562	0.315000	0.23110	0.528000	0.53228	GAC		0.318	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
TMEM184C	55751	broad.mit.edu	37	4	148554145	148554145	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr4:148554145G>A	ENST00000296582.3	+	8	1445	c.871G>A	c.(871-873)Gga>Aga	p.G291R	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	291						integral component of membrane (GO:0016021)		p.G291R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TGTGGCCACCGGACTCCAGGT	0.398																																					p.G291R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G871A	4						.						117.0	106.0	110.0					4																	148554145		2203	4300	6503	148773595	SO:0001583	missense	55751	exon8			AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.871G>A	4.37:g.148554145G>A	ENSP00000296582:p.Gly291Arg		148773595	NM_018241	D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	ENST00000296582.3	37	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.853225	0.71719	.	.	ENSG00000164168	ENST00000296582	T	0.42131	0.98	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.62196	0.2408	M	0.64260	1.97	0.80722	D	1	D	0.71674	0.998	D	0.65773	0.938	T	0.57785	-0.7751	10	0.39692	T	0.17	-1.6964	19.7537	0.96281	0.0:0.0:1.0:0.0	.	291	Q9NVA4	T184C_HUMAN	R	291	ENSP00000296582:G291R	ENSP00000296582:G291R	G	+	1	0	TMEM184C	148773595	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.502000	0.97981	2.738000	0.93877	0.585000	0.79938	GGA		0.398	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241	
GUF1	60558	broad.mit.edu	37	4	44693801	44693801	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr4:44693801C>T	ENST00000281543.5	+	13	1792	c.1598C>T	c.(1597-1599)tCt>tTt	p.S533F	RP11-700J17.1_ENST00000610260.1_RNA|GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)									p.S533F(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						AAATCCCTATCTTCTGGATAT	0.279																																					p.S533F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1598T	4						.						93.0	109.0	104.0					4																	44693801		2201	4281	6482	44388558	SO:0001583	missense	60558	exon13				CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1598C>T	4.37:g.44693801C>T	ENSP00000281543:p.Ser533Phe		44388558	NM_021927		Missense_Mutation	SNP	ENST00000281543.5	37	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214250	0.79352	.	.	ENSG00000151806	ENST00000281543	T	0.69926	-0.44	4.87	4.87	0.63330	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.87071	0.6086	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.91206	0.4995	10	0.87932	D	0	-15.107	17.3559	0.87335	0.0:1.0:0.0:0.0	.	533	Q8N442	GUF1_HUMAN	F	533	ENSP00000281543:S533F	ENSP00000281543:S533F	S	+	2	0	GUF1	44388558	1.000000	0.71417	0.992000	0.48379	0.964000	0.63967	7.355000	0.79434	2.410000	0.81850	0.655000	0.94253	TCT		0.279	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927	
TENM3	55714	broad.mit.edu	37	4	183714430	183714430	+	Missense_Mutation	SNP	C	C	T	rs146065963	byFrequency	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr4:183714430C>T	ENST00000511685.1	+	26	6728	c.6605C>T	c.(6604-6606)aCg>aTg	p.T2202M	TENM3_ENST00000406950.2_Missense_Mutation_p.T2202M			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2202					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.T2202M(2)									CAAAGGGGCACGGAAATCTTT	0.502													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19911	0.0		0.001	False		,,,				2504	0.0				p.T2202M												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C6605T	4						.						102.0	101.0	102.0					4																	183714430		1915	4126	6041	183951424	SO:0001583	missense	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.6605C>T	4.37:g.183714430C>T	ENSP00000424226:p.Thr2202Met		183951424	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	12.51	1.959437	0.34565	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.87103	-2.21;-2.21	4.89	4.89	0.63831	.	.	.	.	.	D	0.84777	0.5547	L	0.49571	1.57	0.48901	D	0.99972	D	0.57257	0.979	B	0.41299	0.353	D	0.87211	0.2247	9	0.59425	D	0.04	.	18.2684	0.90060	0.0:1.0:0.0:0.0	.	2202	Q9P273	TEN3_HUMAN	M	2202	ENSP00000424226:T2202M;ENSP00000385276:T2202M	ENSP00000385276:T2202M	T	+	2	0	ODZ3	183951424	1.000000	0.71417	0.993000	0.49108	0.822000	0.46500	5.817000	0.69229	2.534000	0.85438	0.563000	0.77884	ACG		0.502	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
APC	324	broad.mit.edu	37	5	112174096	112174096	+	Nonsense_Mutation	SNP	C	C	A	rs137854575|rs398123120	byFrequency	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr5:112174096C>A	ENST00000457016.1	+	16	3185	c.2805C>A	c.(2803-2805)taC>taA	p.Y935*	APC_ENST00000257430.4_Nonsense_Mutation_p.Y935*|APC_ENST00000508376.2_Nonsense_Mutation_p.Y935*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	935	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.Y935*(5)|p.Y935fs*1(2)|p.N936fs*1(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAAACACTTACAATTTCACTA	0.358		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.Y917X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,large_intestine,colon,Substitution - Nonsense,0 	.	9	Substitution - Nonsense(5)|Insertion - Frameshift(3)|Unknown(1)	large_intestine(8)|skin(1)	c.C2751A	5	GRCh37	CD041148|CI994312|CM920044|CM970086	APC	D|I|M	rs137854575	.						68.0	70.0	69.0					5																	112174096		2202	4300	6502	112201995	SO:0001587	stop_gained	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2805C>A	5.37:g.112174096C>A	ENSP00000413133:p.Tyr935*		112201995	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	36	5.776291	0.96922	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.77	4.9	0.64082	.	0.249510	0.35772	N	0.002998	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6869	13.1773	0.59635	0.0:0.9222:0.0:0.0778	.	.	.	.	X	935;917;935;935;935	.	ENSP00000257430:Y935X	Y	+	3	2	APC	112201995	1.000000	0.71417	0.997000	0.53966	0.760000	0.43138	1.364000	0.34171	2.729000	0.93468	0.557000	0.71058	TAC		0.358	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
PCDHGB4	8641	broad.mit.edu	37	5	140769586	140769586	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr5:140769586G>A	ENST00000519479.1	+	1	2135	c.2135G>A	c.(2134-2136)cGc>cAc	p.R712H	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	712					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R712H(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGCCTTGCGCCTGCGACGC	0.602																																					p.R712H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2135A	5						.						148.0	162.0	157.0					5																	140769586		2090	4215	6305	140749770	SO:0001583	missense	8641	exon1			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.2135G>A	5.37:g.140769586G>A	ENSP00000428288:p.Arg712His		140749770	NM_032098	O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	13.97	2.395369	0.42512	.	.	ENSG00000253953	ENST00000519479	T	0.13420	2.59	5.31	2.25	0.28309	.	.	.	.	.	T	0.17152	0.0412	M	0.77712	2.385	0.09310	N	1	B;B	0.16166	0.003;0.016	B;B	0.15870	0.005;0.014	T	0.17440	-1.0369	9	0.56958	D	0.05	.	6.2792	0.20997	0.2395:0.137:0.6235:0.0	.	712;712	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	H	712	ENSP00000428288:R712H	ENSP00000428288:R712H	R	+	2	0	PCDHGB4	140749770	0.000000	0.05858	0.630000	0.29268	0.709000	0.40893	-0.110000	0.10824	1.193000	0.43086	0.563000	0.77884	CGC		0.602	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736	
PCDHGB3	56102	broad.mit.edu	37	5	140779229	140779229	+	Intron	SNP	C	C	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr5:140779229C>T	ENST00000576222.1	+	1	2546				PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTGTTCGCGCAGCGCGCC	0.627																																					p.A512V												.	.	0			c.C1535T	5						.						31.0	35.0	34.0					5																	140779229		2006	4167	6173	140759413	SO:0001627	intron_variant	56101	exon1			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+26853C>T	5.37:g.140779229C>T			140759413	NM_032099	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.627	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
ADAMTS16	170690	broad.mit.edu	37	5	5237199	5237199	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr5:5237199A>T	ENST00000274181.7	+	14	2279	c.2141A>T	c.(2140-2142)gAt>gTt	p.D714V	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	714	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D714V(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTTTGTATAGATGGGATATGT	0.408																																					p.D714V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2141T	5						.						127.0	118.0	121.0					5																	5237199		1916	4126	6042	5290199	SO:0001583	missense	170690	exon14			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2141A>T	5.37:g.5237199A>T	ENSP00000274181:p.Asp714Val		5290199	NM_139056	C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.374022	0.82573	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.61158	0.13	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.82153	0.4975	H	0.94222	3.51	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.74674	0.928;0.984	D	0.87137	0.2200	10	0.72032	D	0.01	.	14.9999	0.71464	1.0:0.0:0.0:0.0	.	714;714	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	V	714	ENSP00000274181:D714V	ENSP00000274181:D714V	D	+	2	0	ADAMTS16	5290199	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.501000	0.90501	2.186000	0.69663	0.533000	0.62120	GAT		0.408	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
CDH10	1008	broad.mit.edu	37	5	24488058	24488058	+	Missense_Mutation	SNP	G	G	A	rs543550761		TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr5:24488058G>A	ENST00000264463.4	-	12	2588	c.2081C>T	c.(2080-2082)aCg>aTg	p.T694M	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	694					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T694M(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AATAAATAACGTTTCTGGAAT	0.498										HNSCC(23;0.051)			G|||	1	0.000199681	0.0	0.0	5008	,	,		15514	0.0		0.0	False		,,,				2504	0.001				p.T694M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2081T	5						.						68.0	74.0	72.0					5																	24488058		2203	4300	6503	24523815	SO:0001583	missense	1008	exon12			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2081C>T	5.37:g.24488058G>A	ENSP00000264463:p.Thr694Met		24523815	NM_006727	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.391869	0.25118	.	.	ENSG00000040731	ENST00000264463	T	0.77098	-1.07	5.46	5.46	0.80206	Cadherin, cytoplasmic domain (1);	0.477443	0.23498	N	0.047527	T	0.64294	0.2585	L	0.32530	0.975	0.35997	D	0.837144	P	0.36483	0.555	B	0.23419	0.046	T	0.71866	-0.4463	10	0.37606	T	0.19	.	13.9707	0.64237	0.0:0.1515:0.8485:0.0	.	694	Q9Y6N8	CAD10_HUMAN	M	694	ENSP00000264463:T694M	ENSP00000264463:T694M	T	-	2	0	CDH10	24523815	1.000000	0.71417	0.091000	0.20842	0.980000	0.70556	3.982000	0.56909	2.580000	0.87095	0.655000	0.94253	ACG		0.498	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	
HTR1A	3350	broad.mit.edu	37	5	63256429	63256429	+	Missense_Mutation	SNP	C	C	G	rs200892437		TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr5:63256429C>G	ENST00000323865.3	-	1	1351	c.1118G>C	c.(1117-1119)aGc>aCc	p.S373T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	373					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.S373T(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GTGGCAGCTGCTCTCGCAGAA	0.547																																					p.S373T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1118C	5						.						125.0	132.0	129.0					5																	63256429		2203	4300	6503	63292185	SO:0001583	missense	3350	exon1			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.1118G>C	5.37:g.63256429C>G	ENSP00000316244:p.Ser373Thr		63292185	NM_000524	Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	5.904	0.350879	0.11182	.	.	ENSG00000178394	ENST00000323865	T	0.72282	-0.64	5.7	0.571	0.17352	GPCR, rhodopsin-like superfamily (1);	0.695541	0.15464	N	0.260992	T	0.46541	0.1398	N	0.11789	0.175	0.27294	N	0.957759	B	0.26975	0.165	B	0.28385	0.089	T	0.30880	-0.9963	10	0.30078	T	0.28	.	5.4542	0.16582	0.0:0.5622:0.1344:0.3033	.	373	P08908	5HT1A_HUMAN	T	373	ENSP00000316244:S373T	ENSP00000316244:S373T	S	-	2	0	HTR1A	63292185	0.000000	0.05858	0.997000	0.53966	0.925000	0.55904	0.178000	0.16820	0.063000	0.16370	0.655000	0.94253	AGC		0.547	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524	
GFM2	84340	broad.mit.edu	37	5	74046462	74046462	+	Missense_Mutation	SNP	C	C	T	rs371589931		TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr5:74046462C>T	ENST00000296805.3	-	7	918	c.461G>A	c.(460-462)cGg>cAg	p.R154Q	GFM2_ENST00000345239.2_Missense_Mutation_p.R154Q|GFM2_ENST00000509430.1_Missense_Mutation_p.R154Q|GFM2_ENST00000427854.2_Missense_Mutation_p.R154Q	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2									p.R154Q(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TCTTAGGCACCGCTCAACCTC	0.403																																					p.R154Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G461A	5						.	C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	92.0	78.0	83.0		461,461,461	5.1	1.0	5		83	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	GFM2	NM_032380.3,NM_170681.1,NM_170691.1	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	154/780,154/514,154/733	74046462	1,13005	2203	4300	6503	74082218	SO:0001583	missense	84340	exon7			AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.461G>A	5.37:g.74046462C>T	ENSP00000296805:p.Arg154Gln		74082218	NM_170681		Missense_Mutation	SNP	ENST00000296805.3	37	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283115	0.80803	0.0	1.16E-4	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430;ENST00000427854;ENST00000509097	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	5.93	5.05	0.67936	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	D	0.000000	D	0.86615	0.5975	M	0.90309	3.105	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.988	D;P;D;D;P	0.97110	1.0;0.831;1.0;1.0;0.832	D	0.88822	0.3299	10	0.87932	D	0	-8.4121	15.5219	0.75871	0.0:0.9328:0.0:0.0672	.	154;154;154;154;154	F5H687;Q969S9-3;Q969S9-5;Q969S9-2;Q969S9	.;.;.;.;RRF2M_HUMAN	Q	154;154;154;154;154;112	ENSP00000296805:R154Q;ENSP00000296804:R154Q;ENSP00000427004:R154Q;ENSP00000405808:R154Q;ENSP00000421717:R112Q	ENSP00000296805:R154Q	R	-	2	0	GFM2	74082218	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.673000	0.83973	2.805000	0.96524	0.655000	0.94253	CGG		0.403	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380	
TTC37	9652	broad.mit.edu	37	5	94803578	94803578	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr5:94803578G>T	ENST00000358746.2	-	42	4910	c.4612C>A	c.(4612-4614)Ctt>Att	p.L1538I		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1538						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.L1538I(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ACGTCAATAAGCTCATAGTCA	0.333																																					p.L1538I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4612A	5						.						122.0	111.0	115.0					5																	94803578		2203	4300	6503	94829334	SO:0001583	missense	9652	exon42			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4612C>A	5.37:g.94803578G>T	ENSP00000351596:p.Leu1538Ile		94829334	NM_014639	O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672095	0.67928	.	.	ENSG00000198677	ENST00000358746	D	0.85629	-2.01	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.89114	0.6623	M	0.61703	1.905	0.43032	D	0.994608	D	0.69078	0.997	D	0.65010	0.931	D	0.89294	0.3621	10	0.59425	D	0.04	.	9.6484	0.39881	0.1575:0.0:0.8425:0.0	.	1538	Q6PGP7	TTC37_HUMAN	I	1538	ENSP00000351596:L1538I	ENSP00000351596:L1538I	L	-	1	0	TTC37	94829334	1.000000	0.71417	0.999000	0.59377	0.858000	0.48976	3.875000	0.56108	2.467000	0.83353	0.555000	0.69702	CTT		0.333	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639	
ITK	3702	broad.mit.edu	37	5	156644903	156644903	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr5:156644903C>T	ENST00000422843.3	+	5	633	c.481C>T	c.(481-483)Cct>Tct	p.P161S	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	161					activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.P161S(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	TCCTCCTACTCCTGAAGACAA	0.512			T	SYK	peripheral T-cell lymphoma																																p.P161S	Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C481T	5						.						134.0	138.0	137.0					5																	156644903		2203	4300	6503	156577481	SO:0001583	missense	3702	exon5			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.481C>T	5.37:g.156644903C>T	ENSP00000398655:p.Pro161Ser		156577481	NM_005546	B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891517	0.72524	.	.	ENSG00000113263	ENST00000521769;ENST00000422843	D;T	0.93247	-3.19;-1.01	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.96540	0.8871	M	0.79805	2.47	0.51767	D	0.99993	D	0.89917	1.0	D	0.85130	0.997	D	0.96946	0.9691	10	0.66056	D	0.02	.	15.253	0.73561	0.0:1.0:0.0:0.0	.	161	Q08881	ITK_HUMAN	S	36;161	ENSP00000430327:P36S;ENSP00000398655:P161S	ENSP00000398655:P161S	P	+	1	0	ITK	156577481	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.921000	0.63397	2.318000	0.78349	0.561000	0.74099	CCT		0.512	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2		
PRDM1	639	broad.mit.edu	37	6	106554884	106554884	+	Silent	SNP	G	G	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr6:106554884G>A	ENST00000369096.4	+	7	2235	c.2001G>A	c.(1999-2001)aaG>aaA	p.K667K	PRDM1_ENST00000369091.2_Silent_p.K631K|PRDM1_ENST00000369089.3_Silent_p.K533K	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	667					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K631K(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GCCCTGCCAAGTTCACCCAGT	0.542			"""D, N, Mis, F, S"""		DLBCL																																p.K667K			Rec	yes		6	6q21	639	"""PR domain containing 1, with ZNF domain"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2001A	6						.						120.0	121.0	120.0					6																	106554884		2203	4300	6503	106661577	SO:0001819	synonymous_variant	639	exon7				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.2001G>A	6.37:g.106554884G>A			106661577	NM_001198	B2REA6|E1P5E0|Q86WM7	Silent	SNP	ENST00000369096.4	37	CCDS5054.2																																																																																				0.542	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3		
COL12A1	1303	broad.mit.edu	37	6	75841699	75841699	+	Missense_Mutation	SNP	C	C	T	rs199747984		TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr6:75841699C>T	ENST00000322507.8	-	35	6203	c.5894G>A	c.(5893-5895)cGc>cAc	p.R1965H	COL12A1_ENST00000483888.2_Missense_Mutation_p.R1965H|COL12A1_ENST00000345356.6_Missense_Mutation_p.R801H|COL12A1_ENST00000416123.2_Missense_Mutation_p.R1965H	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1965	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.R1965H(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATACACAACGCGATATTGCAG	0.468																																					p.R1965H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5894A	6						.						136.0	133.0	134.0					6																	75841699		2022	4182	6204	75898419	SO:0001583	missense	1303	exon35			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5894G>A	6.37:g.75841699C>T	ENSP00000325146:p.Arg1965His		75898419	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405176	0.62288	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	6.17	6.17	0.99709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.165364	0.39341	N	0.001394	T	0.72558	0.3475	M	0.82517	2.595	0.43756	D	0.996268	D;D	0.89917	1.0;1.0	D;D	0.72075	0.949;0.976	T	0.74520	-0.3638	10	0.56958	D	0.05	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	801;1965	Q99715-2;Q99715	.;COCA1_HUMAN	H	1965;1965;801;1965;1965	ENSP00000325146:R1965H;ENSP00000305147:R801H;ENSP00000412864:R1965H;ENSP00000421216:R1965H	ENSP00000325146:R1965H	R	-	2	0	COL12A1	75898419	0.998000	0.40836	0.593000	0.28771	0.014000	0.08584	4.695000	0.61767	2.941000	0.99782	0.655000	0.94253	CGC		0.468	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
ME1	4199	broad.mit.edu	37	6	84117566	84117566	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr6:84117566G>T	ENST00000369705.3	-	2	249	c.133C>A	c.(133-135)Cca>Aca	p.P45T	ME1_ENST00000541327.1_Intron|ME1_ENST00000543031.1_Intron	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	45					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)	p.P45T(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		AAGGAAGGTGGCAACAATCCA	0.423																																					p.P45T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C133A	6						.						148.0	148.0	148.0					6																	84117566		2203	4300	6503	84174285	SO:0001583	missense	4199	exon2			X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.133C>A	6.37:g.84117566G>T	ENSP00000358719:p.Pro45Thr		84174285	NM_002395	B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409931	0.83340	.	.	ENSG00000065833	ENST00000369705	T	0.65549	-0.16	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.85349	0.5676	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90267	0.4305	10	0.87932	D	0	-12.1328	19.0279	0.92941	0.0:0.0:1.0:0.0	.	45	P48163	MAOX_HUMAN	T	45	ENSP00000358719:P45T	ENSP00000358719:P45T	P	-	1	0	ME1	84174285	1.000000	0.71417	0.998000	0.56505	0.776000	0.43924	9.539000	0.98076	2.492000	0.84095	0.650000	0.86243	CCA		0.423	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1		
ORC3	23595	broad.mit.edu	37	6	88311589	88311589	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr6:88311589C>A	ENST00000392844.3	+	3	215	c.167C>A	c.(166-168)tCt>tAt	p.S56Y	ORC3_ENST00000257789.4_Missense_Mutation_p.S56Y|ORC3_ENST00000417380.2_Missense_Mutation_p.S3Y|ORC3_ENST00000546266.1_Intron	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	56				S -> F (in Ref. 5; BAD96515). {ECO:0000305}.	DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)	p.S56Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CAGATGAAATCTGAAAATGAG	0.338																																					p.S56Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C167A	6						.						61.0	64.0	63.0					6																	88311589		2203	4300	6503	88368308	SO:0001583	missense	23595	exon3			AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.167C>A	6.37:g.88311589C>A	ENSP00000376586:p.Ser56Tyr		88368308	NM_012381	A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	ENST00000392844.3	37	CCDS43486.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357041	0.41801	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000417380	T;T;T	0.15487	2.42;2.42;2.42	5.12	3.31	0.37934	.	0.315450	0.35320	N	0.003286	T	0.19485	0.0468	M	0.78637	2.42	0.80722	D	1	B;B;P;B;B	0.43477	0.369;0.369;0.808;0.369;0.318	B;B;P;B;B	0.51229	0.424;0.328;0.663;0.328;0.22	T	0.01225	-1.1413	10	0.72032	D	0.01	-0.0219	9.8063	0.40795	0.0:0.6637:0.2637:0.0726	.	56;56;56;56;56	B7ZAI3;B7Z8A5;B4E014;Q9UBD5;Q9UBD5-2	.;.;.;ORC3_HUMAN;.	Y	56;56;3	ENSP00000376586:S56Y;ENSP00000257789:S56Y;ENSP00000390176:S3Y	ENSP00000257789:S56Y	S	+	2	0	ORC3	88368308	0.762000	0.28451	1.000000	0.80357	0.983000	0.72400	0.754000	0.26390	0.562000	0.29204	0.549000	0.68633	TCT		0.338	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2		
UTRN	7402	broad.mit.edu	37	6	144749962	144749962	+	Silent	SNP	G	G	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr6:144749962G>A	ENST00000367545.3	+	7	627	c.627G>A	c.(625-627)gaG>gaA	p.E209E		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	209	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E209E(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CACCAATTGAGAGACTTGAAC	0.363																																					p.E209E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G627A	6						.						108.0	102.0	104.0					6																	144749962		2203	4300	6503	144791655	SO:0001819	synonymous_variant	7402	exon7			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.627G>A	6.37:g.144749962G>A			144791655	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	CCDS34547.1																																																																																				0.363	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
MUC17	140453	broad.mit.edu	37	7	100686567	100686567	+	Missense_Mutation	SNP	C	C	T	rs140415574		TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr7:100686567C>T	ENST00000306151.4	+	3	11934	c.11870C>T	c.(11869-11871)aCa>aTa	p.T3957I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3957					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T3957I(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTTCCTGCAACAACTGGTGCT	0.438																																					p.T3957I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11870T	7						.						162.0	160.0	161.0					7																	100686567		2203	4300	6503	100473287	SO:0001583	missense	140453	exon3			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11870C>T	7.37:g.100686567C>T	ENSP00000302716:p.Thr3957Ile		100473287	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	10.79	1.449762	0.26074	.	.	ENSG00000169876	ENST00000306151	T	0.02197	4.4	1.36	1.36	0.22044	.	.	.	.	.	T	0.03695	0.0105	N	0.14661	0.345	0.25739	N	0.985182	D	0.71674	0.998	D	0.71656	0.974	T	0.51052	-0.8754	9	0.36615	T	0.2	.	6.0479	0.19770	0.0:1.0:0.0:0.0	.	3957	Q685J3	MUC17_HUMAN	I	3957	ENSP00000302716:T3957I	ENSP00000302716:T3957I	T	+	2	0	MUC17	100473287	.	.	0.073000	0.20177	0.048000	0.14542	.	.	0.740000	0.32651	0.424000	0.28305	ACA		0.438	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
LRGUK	136332	broad.mit.edu	37	7	133906601	133906601	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr7:133906601C>A	ENST00000285928.2	+	16	1983	c.1914C>A	c.(1912-1914)ttC>ttA	p.F638L		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	638						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.F638L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TGGGTGATTTCCTGCATTCTA	0.383																																					p.F638L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1914A	7						.						73.0	74.0	73.0					7																	133906601		2203	4300	6503	133557141	SO:0001583	missense	136332	exon16			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1914C>A	7.37:g.133906601C>A	ENSP00000285928:p.Phe638Leu		133557141	NM_144648	Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	C	7.741	0.701227	0.15172	.	.	ENSG00000155530	ENST00000285928	T	0.34072	1.38	5.76	-5.71	0.02413	.	0.629924	0.16514	N	0.211107	T	0.10208	0.0250	N	0.11201	0.11	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30765	-0.9967	10	0.07813	T	0.8	-3.8396	0.8146	0.01100	0.3351:0.1815:0.1097:0.3737	.	638	Q96M69	LRGUK_HUMAN	L	638	ENSP00000285928:F638L	ENSP00000285928:F638L	F	+	3	2	LRGUK	133557141	0.009000	0.17119	0.000000	0.03702	0.002000	0.02628	-0.532000	0.06164	-0.728000	0.04882	0.650000	0.86243	TTC		0.383	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648	
EPHB6	2051	broad.mit.edu	37	7	142562077	142562077	+	Silent	SNP	T	T	C	rs78315767		TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr7:142562077T>C	ENST00000392957.2	+	7	1306	c.519T>C	c.(517-519)tcT>tcC	p.S173S	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.S173S	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	173	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Poly-Ser.					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.S158S(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)					cctcctcctcttcttcctcTG	0.622																																					p.S173S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T519C	7						.						82.0	100.0	94.0					7																	142562077		2201	4299	6500	142272199	SO:0001819	synonymous_variant	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.519T>C	7.37:g.142562077T>C			142272199	NM_004445	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	CCDS5873.2																																																																																				0.622	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1		
UBE3C	9690	broad.mit.edu	37	7	156956550	156956550	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr7:156956550A>C	ENST00000348165.5	+	2	473	c.113A>C	c.(112-114)aAg>aCg	p.K38T	UBE3C_ENST00000389103.4_Intron	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	38	Cis-determinant of acceptor ubiquitin- binding.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.K38T(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GAAAGAAGAAAGAGAGAGGTA	0.323																																					p.K38T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A113C	7						.																																			156649311	SO:0001583	missense	9690	exon2			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.113A>C	7.37:g.156956550A>C	ENSP00000309198:p.Lys38Thr		156649311	NM_014671	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.191947	0.78902	.	.	ENSG00000009335	ENST00000348165	T	0.50277	0.75	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;0.99	D;D	0.87578	0.998;0.969	T	0.63677	-0.6583	10	0.48119	T	0.1	.	13.7332	0.62802	1.0:0.0:0.0:0.0	.	38;38	Q15386;Q15386-2	UBE3C_HUMAN;.	T	38	ENSP00000309198:K38T	ENSP00000309198:K38T	K	+	2	0	UBE3C	156649311	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.767000	0.74975	1.943000	0.56356	0.477000	0.44152	AAG		0.323	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	
ZFHX4	79776	broad.mit.edu	37	8	77617274	77617274	+	Silent	SNP	C	C	T			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr8:77617274C>T	ENST00000521891.2	+	2	1399	c.951C>T	c.(949-951)tgC>tgT	p.C317C	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.C317C|ZFHX4_ENST00000050961.6_Silent_p.C317C|ZFHX4_ENST00000518282.1_Silent_p.C317C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	317					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.C317C(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)			GTAATAAATGCGTCTCCGCCA	0.413										HNSCC(33;0.089)																											p.C317C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C951T	8						.						140.0	130.0	133.0					8																	77617274		1871	4115	5986	77779829	SO:0001819	synonymous_variant	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.951C>T	8.37:g.77617274C>T			77779829	NM_024721	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.413	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
MLLT3	4300	broad.mit.edu	37	9	20363527	20363527	+	Silent	SNP	G	G	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr9:20363527G>A	ENST00000380338.4	-	7	1564	c.1278C>T	c.(1276-1278)gaC>gaT	p.D426D	MLLT3_ENST00000429426.2_Silent_p.D423D|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000380321.1_Silent_p.D20D|MLLT3_ENST00000355930.6_Silent_p.D20D	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	426					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.D426D(1)		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)		CAGAGTCATTGTCGTTATCCT	0.458			T	MLL	ALL																																p.D426D			Dom	yes		9	9p22	4300	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1278T	9						.						178.0	149.0	159.0					9																	20363527		2203	4300	6503	20353527	SO:0001819	synonymous_variant	4300	exon7			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.1278C>T	9.37:g.20363527G>A			20353527	NM_004529	B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	CCDS6494.1																																																																																				0.458	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529	
RNF20	56254	broad.mit.edu	37	9	104314845	104314845	+	Nonsense_Mutation	SNP	C	C	T	rs142811207		TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chr9:104314845C>T	ENST00000389120.3	+	13	1801	c.1711C>T	c.(1711-1713)Cga>Tga	p.R571*	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	571					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R571*(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		agaacgagaacgagaaaggag	0.473																																					p.R571X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1711T	9						.	C	stop/ARG	0,4406		0,0,2203	81.0	94.0	90.0		1711	3.2	1.0	9	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	RNF20	NM_019592.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		571/976	104314845	1,13005	2203	4300	6503	103354666	SO:0001587	stop_gained	56254	exon13			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1711C>T	9.37:g.104314845C>T	ENSP00000373772:p.Arg571*		103354666	NM_019592	A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Nonsense_Mutation	SNP	ENST00000389120.3	37	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	C	38	7.209417	0.98136	0.0	1.16E-4	ENSG00000155827	ENST00000389120	.	.	.	6.17	3.25	0.37280	.	0.480250	0.22264	N	0.062380	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-7.6766	9.6167	0.39696	0.2534:0.6797:0.0:0.0668	.	.	.	.	X	571	.	ENSP00000373772:R571X	R	+	1	2	RNF20	103354666	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.124000	0.50461	0.928000	0.37168	-0.169000	0.13324	CGA		0.473	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592	
PTCHD1	139411	broad.mit.edu	37	X	23397822	23397822	+	Missense_Mutation	SNP	G	G	A	rs199597484		TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chrX:23397822G>A	ENST00000379361.4	+	2	1326	c.466G>A	c.(466-468)Gtc>Atc	p.V156I		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	156					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.V51I(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CATAGTGCACGTCCTGGAAGA	0.458																																					p.V156I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G466A	X						.						95.0	82.0	86.0					X																	23397822		2203	4300	6503	23307743	SO:0001583	missense	139411	exon2			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.466G>A	X.37:g.23397822G>A	ENSP00000368666:p.Val156Ile		23307743	NM_173495	B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275947	0.23307	.	.	ENSG00000165186	ENST00000379361	D	0.85411	-1.98	5.06	5.06	0.68205	.	0.067749	0.64402	D	0.000010	T	0.71829	0.3386	N	0.20685	0.6	0.35756	D	0.81978	B;B	0.17465	0.022;0.0	B;B	0.09377	0.004;0.001	T	0.69687	-0.5078	10	0.22109	T	0.4	.	8.6741	0.34167	0.1713:0.0:0.8287:0.0	.	51;156	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	I	156	ENSP00000368666:V156I	ENSP00000368666:V156I	V	+	1	0	PTCHD1	23307743	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	4.325000	0.59234	2.483000	0.83821	0.600000	0.82982	GTC		0.458	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495	
KDM5D	8284	broad.mit.edu	37	Y	21877537	21877537	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A01I-01A-02W-A00E-09	TCGA-AA-A01I-10A-01W-A00E-09	g.chrY:21877537G>A	ENST00000317961.4	-	17	2573	c.2302C>T	c.(2302-2304)Cga>Tga	p.R768*	KDM5D_ENST00000541639.1_Nonsense_Mutation_p.R799*|KDM5D_ENST00000382806.2_Nonsense_Mutation_p.R711*	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	768					histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.R768*(1)		kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	AAGGCCACTCGCACTTTGTTG	0.493																																					p.R768X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2302T	Y						.																																			20336925	SO:0001587	stop_gained	8284	exon17			U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11115	protein-coding gene	gene with protein product		426000	"""Jumonji, AT rich interactive domain 1D (RBP2-like)"", ""Smcy homolog, Y-linked (mouse)"", ""jumonji, AT rich interactive domain 1D"""	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.2302C>T	Y.37:g.21877537G>A	ENSP00000322408:p.Arg768*		20336925	NM_004653	A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Nonsense_Mutation	SNP	ENST00000317961.4	37	CCDS14794.1																																																																																				0.493	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088790.1	NM_004653	
