#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
MRPS16	51021	broad.mit.edu	37	10	75011558	75011558	+	Silent	SNP	G	G	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr10:75011558G>A	ENST00000372945.3	-	2	447	c.237C>T	c.(235-237)tgC>tgT	p.C79C	RP11-152N13.5_ENST00000457147.1_RNA|DNAJC9-AS1_ENST00000513954.1_RNA|MRPS16_ENST00000416782.2_Silent_p.C79C|TTC18_ENST00000493787.1_5'Flank|RP11-152N13.5_ENST00000394864.2_RNA|MRPS16_ENST00000479005.1_5'UTR|MRPS16_ENST00000372940.3_Silent_p.C79C|RP11-152N13.5_ENST00000457758.1_RNA|DNAJC9_ENST00000372950.4_5'Flank|DNAJC9-AS1_ENST00000440197.2_RNA	NM_016065.3	NP_057149.1	Q9Y3D3	RT16_HUMAN	mitochondrial ribosomal protein S16	79					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)	p.C79C(1)		large_intestine(2)|lung(2)	4	Prostate(51;0.0119)					GGTGGGCCCCGCAGCCAATCC	0.502																																					p.C79C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C237T	10						.						108.0	114.0	112.0					10																	75011558		2203	4300	6503	74681564	SO:0001819	synonymous_variant	51021	exon2			AB051351	CCDS7323.1	10q22.1	2012-09-13			ENSG00000182180	ENSG00000182180		"""Mitochondrial ribosomal proteins / small subunits"""	14048	protein-coding gene	gene with protein product		609204				10810093	Standard	NM_016065		Approved	CGI-132	uc001jts.1	Q9Y3D3	OTTHUMG00000018454	ENST00000372945.3:c.237C>T	10.37:g.75011558G>A			74681564	NM_016065	B4E032|Q96Q60	Silent	SNP	ENST00000372945.3	37	CCDS7323.1																																																																																				0.502	MRPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048616.1		
MRGPRX3	117195	broad.mit.edu	37	11	18158858	18158858	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr11:18158858G>A	ENST00000396275.2	+	3	470	c.109G>A	c.(109-111)Gtt>Att	p.V37I		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V37I(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GACGTGCATCGTTTCCCTTGT	0.582																																					p.V37I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G109A	11						.						152.0	147.0	149.0					11																	18158858		2200	4293	6493	18115434	SO:0001583	missense	117195	exon3				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.109G>A	11.37:g.18158858G>A	ENSP00000379571:p.Val37Ile		18115434	NM_054031	B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.471657	0.01044	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.25250	1.81;1.81	1.46	0.111	0.14619	.	1.208180	0.05917	N	0.632663	T	0.09818	0.0241	N	0.08118	0	0.20196	N	0.999929	B	0.02656	0.0	B	0.01281	0.0	T	0.27536	-1.0071	10	0.02654	T	1	.	3.3229	0.07057	0.7452:0.0:0.2548:0.0	.	37	Q96LB0	MRGX3_HUMAN	I	37	ENSP00000379571:V37I;ENSP00000436242:V37I	ENSP00000379571:V37I	V	+	1	0	MRGPRX3	18115434	0.000000	0.05858	0.017000	0.16124	0.010000	0.07245	-0.527000	0.06200	0.048000	0.15891	-0.634000	0.03986	GTT		0.582	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031	
LDHAL6A	160287	broad.mit.edu	37	11	18485515	18485515	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr11:18485515G>A	ENST00000280706.2	+	2	931	c.134G>A	c.(133-135)aGt>aAt	p.S45N	LDHAL6A_ENST00000396213.3_Missense_Mutation_p.S45N	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	45					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)	p.S45N(1)		large_intestine(3)|lung(9)|urinary_tract(1)	13						CAGGGTTTGAGTGATGAACTT	0.383																																					p.S45N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G134A	11						.						161.0	134.0	143.0					11																	18485515		2199	4293	6492	18442091	SO:0001583	missense	160287	exon2			AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.134G>A	11.37:g.18485515G>A	ENSP00000280706:p.Ser45Asn		18442091	NM_144972	D3DQY5	Missense_Mutation	SNP	ENST00000280706.2	37	CCDS7841.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114532	0.37339	.	.	ENSG00000166800	ENST00000396213;ENST00000280706	D;D	0.88277	-2.36;-2.36	3.95	-1.08	0.09936	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.850847	0.09968	U	0.732562	D	0.82889	0.5135	L	0.39147	1.195	0.29859	N	0.82777	B	0.31256	0.316	B	0.36845	0.234	T	0.76468	-0.2948	10	0.87932	D	0	.	4.4377	0.11559	0.0993:0.3802:0.4005:0.1201	.	45	Q6ZMR3	LDH6A_HUMAN	N	45	ENSP00000379516:S45N;ENSP00000280706:S45N	ENSP00000280706:S45N	S	+	2	0	LDHAL6A	18442091	0.996000	0.38824	0.991000	0.47740	0.702000	0.40608	0.434000	0.21494	0.160000	0.19432	0.655000	0.94253	AGT		0.383	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395904.1	NM_144972	
OR5M9	390162	broad.mit.edu	37	11	56230147	56230147	+	Missense_Mutation	SNP	G	G	A	rs558210028		TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr11:56230147G>A	ENST00000279791.1	-	1	730	c.731C>T	c.(730-732)aCg>aTg	p.T244M		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T244M(3)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					AGAAACAGCCGTCAAGTGGGA	0.532													g|||	1	0.000199681	0.0008	0.0	5008	,	,		18218	0.0		0.0	False		,,,				2504	0.0				p.T244M												.	.	3	Substitution - Missense(3)	large_intestine(1)|prostate(1)|endometrium(1)	c.C731T	11						.						53.0	50.0	51.0					11																	56230147		2201	4296	6497	55986723	SO:0001583	missense	390162	exon1			AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.731C>T	11.37:g.56230147G>A	ENSP00000279791:p.Thr244Met		55986723	NM_001004743	Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	G	6.384	0.438944	0.12104	.	.	ENSG00000150269	ENST00000279791	T	0.38401	1.14	4.39	1.4	0.22301	GPCR, rhodopsin-like superfamily (1);	0.149237	0.31102	N	0.008257	T	0.48295	0.1492	L	0.53671	1.685	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.27739	-1.0065	10	0.35671	T	0.21	-10.3754	8.8175	0.35004	0.2829:0.0:0.7171:0.0	.	244	Q8NGP3	OR5M9_HUMAN	M	244	ENSP00000279791:T244M	ENSP00000279791:T244M	T	-	2	0	OR5M9	55986723	0.000000	0.05858	0.875000	0.34327	0.026000	0.11368	-0.150000	0.10189	0.420000	0.25954	-0.282000	0.10007	ACG		0.532	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743	
DTX4	23220	broad.mit.edu	37	11	58972233	58972233	+	Missense_Mutation	SNP	G	G	A	rs376862310		TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr11:58972233G>A	ENST00000227451.3	+	9	1815	c.1711G>A	c.(1711-1713)Gtc>Atc	p.V571I	DTX4_ENST00000532982.1_Missense_Mutation_p.V465I	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	571					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.V465I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GTCAGACACCGTCATCTGGAA	0.532																																					p.V571I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1711A	11						.	G	ILE/VAL	0,4260		0,0,2130	76.0	77.0	77.0		1711	5.4	1.0	11		77	1,8515		0,1,4257	no	missense	DTX4	NM_015177.1	29	0,1,6387	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging	571/620	58972233	1,12775	2130	4258	6388	58728809	SO:0001583	missense	23220	exon9			AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1711G>A	11.37:g.58972233G>A	ENSP00000227451:p.Val571Ile		58728809	NM_015177	Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425456	0.83667	0.0	1.17E-4	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.53423	0.62;0.62	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	L	0.54908	1.71	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.63532	-0.6616	10	0.46703	T	0.11	.	18.0339	0.89293	0.0:0.0:1.0:0.0	.	571	Q9Y2E6	DTX4_HUMAN	I	465;571	ENSP00000434055:V465I;ENSP00000227451:V571I	ENSP00000227451:V571I	V	+	1	0	DTX4	58728809	1.000000	0.71417	0.953000	0.39169	0.323000	0.28346	9.869000	0.99810	2.565000	0.86533	0.591000	0.81541	GTC		0.532	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213	
RELT	84957	broad.mit.edu	37	11	73103309	73103309	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr11:73103309G>A	ENST00000064780.2	+	6	682	c.421G>A	c.(421-423)Ggt>Agt	p.G141S	RELT_ENST00000393580.2_Missense_Mutation_p.G141S	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	141						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G141S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GGCCAGCAGCGGTGGTGAGAC	0.672																																					p.G141S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G421A	11						.						29.0	31.0	30.0					11																	73103309		2196	4291	6487	72780957	SO:0001583	missense	84957	exon6			AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.421G>A	11.37:g.73103309G>A	ENSP00000064780:p.Gly141Ser		72780957	NM_152222	Q86V34|Q96JU1|Q9BUX7	Missense_Mutation	SNP	ENST00000064780.2	37	CCDS8222.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452458	0.63290	.	.	ENSG00000054967	ENST00000064780;ENST00000393580	T;T	0.75821	-0.97;-0.97	5.27	-7.69	0.01263	.	1.486220	0.03619	N	0.235989	T	0.54775	0.1879	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.46569	-0.9182	10	0.44086	T	0.13	2.355	10.2263	0.43227	0.6735:0.1013:0.2252:0.0	.	141	Q969Z4	TR19L_HUMAN	S	141	ENSP00000064780:G141S;ENSP00000377207:G141S	ENSP00000064780:G141S	G	+	1	0	RELT	72780957	0.000000	0.05858	0.000000	0.03702	0.472000	0.32918	-0.195000	0.09546	-1.302000	0.02335	-0.291000	0.09656	GGT		0.672	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871	
RBM7	10179	broad.mit.edu	37	11	114270958	114270958	+	5'UTR	SNP	C	C	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr11:114270958C>T	ENST00000540163.1	+	0	207				RBM7_ENST00000544582.1_5'Flank|RBM7_ENST00000541475.1_5'Flank|C11orf71_ENST00000325636.4_Silent_p.A32A|RP11-212D19.4_ENST00000544347.1_5'Flank|RBM7_ENST00000375490.5_5'Flank|RBM7_ENST00000545678.1_5'Flank			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7						meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A32A(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		CCATCGCCAACGCTGACGCCC	0.632																																					p.A32A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G96A	11						.						16.0	18.0	17.0					11																	114270958		2198	4290	6488	113776168	SO:0001623	5_prime_UTR_variant	54494	exon1			AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"""RNA binding motif (RRM) containing"""	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.-436C>T	11.37:g.114270958C>T			113776168	NM_019021	B2R6K8|Q9NUT4	Silent	SNP	ENST00000540163.1	37	CCDS8370.1																																																																																				0.632	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399010.1	NM_016090	
HECTD4	283450	broad.mit.edu	37	12	112669382	112669382	+	Silent	SNP	G	G	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr12:112669382G>T	ENST00000430131.2	-	38	6014	c.4869C>A	c.(4867-4869)tcC>tcA	p.S1623S	HECTD4_ENST00000377560.5_Silent_p.S1873S|HECTD4_ENST00000550722.1_Silent_p.S1899S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1623					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S1623S(1)|p.S1873S(1)									TGTCGCCTGTGGATAGTCCAC	0.542																																					p.S1873S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C5619A	12						.						99.0	99.0	99.0					12																	112669382		1900	4120	6020	111153765	SO:0001819	synonymous_variant	283450	exon38			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.4869C>A	12.37:g.112669382G>T			111153765	NM_001109662	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37																																																																																					0.542	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	
KRAS	3845	broad.mit.edu	37	12	25378562	25378562	+	Missense_Mutation	SNP	C	C	T	rs121913527		TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr12:25378562C>T	ENST00000256078.4	-	4	499	c.436G>A	c.(436-438)Gca>Aca	p.A146T	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000311936.3_Missense_Mutation_p.A146T|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	146			A -> T (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.A146T(75)|p.A146P(7)	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)			CTTGTCTTTGCTGATGTTTCA	0.323	A146T(AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|A146T(LS1034_LARGE_INTESTINE)|A146T(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.A146T	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS,large_intestine,NS,Substitution - Missense,0 	.	82	Substitution - Missense(82)	large_intestine(69)|haematopoietic_and_lymphoid_tissue(11)|lung(2)	c.G436A	12						.						207.0	188.0	195.0					12																	25378562		2203	4300	6503	25269829	SO:0001583	missense	3845	exon4	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.436G>A	12.37:g.25378562C>T	ENSP00000256078:p.Ala146Thr		25269829	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234460	0.95207	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.88741	-2.42;-2.42	5.52	5.52	0.82312	Small GTP-binding protein domain (1);	0.045975	0.85682	D	0.000000	D	0.96639	0.8903	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;0.963	D;P	0.76071	0.987;0.876	D	0.97524	1.0075	10	0.72032	D	0.01	.	18.7849	0.91951	0.0:1.0:0.0:0.0	.	146;146	P01116-2;P01116	.;RASK_HUMAN	T	146	ENSP00000308495:A146T;ENSP00000256078:A146T	ENSP00000256078:A146T	A	-	1	0	KRAS	25269829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.762000	0.85270	2.757000	0.94681	0.585000	0.79938	GCA		0.323	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
SLC25A3	5250	broad.mit.edu	37	12	98995204	98995204	+	Silent	SNP	G	G	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr12:98995204G>A	ENST00000228318.3	+	8	1107	c.987G>A	c.(985-987)caG>caA	p.Q329Q	SLC25A3_ENST00000551917.1_Silent_p.Q329Q|SLC25A3_ENST00000548847.1_Silent_p.Q291Q|SLC25A3_ENST00000552981.1_Silent_p.Q328Q|SLC25A3_ENST00000401722.3_Silent_p.Q328Q|SNORA53_ENST00000391141.1_RNA|SLC25A3_ENST00000188376.5_Silent_p.Q328Q|SLC25A3_ENST00000549338.1_Silent_p.Q328Q	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	329					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)	p.Q329Q(1)|p.Q328Q(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		CTGCACTACAGTGGTTTATCT	0.458																																					p.Q328Q												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G984A	12						.						165.0	158.0	160.0					12																	98995204		2203	4300	6503	97519335	SO:0001819	synonymous_variant	5250	exon8				CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.987G>A	12.37:g.98995204G>A			97519335	NM_002635	B3KS34|Q7Z7N7|Q96A03	Silent	SNP	ENST00000228318.3	37	CCDS9066.1																																																																																				0.458	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888	
OAS3	4940	broad.mit.edu	37	12	113405775	113405775	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr12:113405775C>T	ENST00000228928.7	+	14	3079	c.2900C>T	c.(2899-2901)cCc>cTc	p.P967L	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	967	OAS domain 3.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)	p.P967L(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GGCTCCCTACCCCCACAGCAC	0.552																																					p.P967L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2900T	12						.						59.0	60.0	59.0					12																	113405775		1947	4132	6079	111890158	SO:0001583	missense	4940	exon14			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.2900C>T	12.37:g.113405775C>T	ENSP00000228928:p.Pro967Leu		111890158	NM_006187	Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	CCDS44981.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.39|13.39	2.223712|2.223712	0.39300|0.39300	.|.	.|.	ENSG00000111331|ENSG00000111331	ENST00000228928;ENST00000323881|ENST00000546973	T|T	0.63096|0.63580	-0.02|-0.05	4.99|4.99	4.08|4.08	0.47627|0.47627	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);|.	0.000000|0.000000	0.33980|0.33980	U|U	0.004372|0.004372	T|T	0.72045|0.72045	0.3412|0.3412	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.74922|0.74922	-0.3499|-0.3499	10|8	0.87932|0.87932	D|D	0|0	.|.	10.4397|10.4397	0.44457|0.44457	0.1942:0.8058:0.0:0.0|0.1942:0.8058:0.0:0.0	.|.	967|.	Q9Y6K5|.	OAS3_HUMAN|.	L|S	967;966|139	ENSP00000228928:P967L|ENSP00000447323:P139S	ENSP00000228928:P967L|ENSP00000447323:P139S	P|P	+|+	2|1	0|0	OAS3|OAS3	111890158|111890158	1.000000|1.000000	0.71417|0.71417	0.940000|0.940000	0.37924|0.37924	0.020000|0.020000	0.10135|0.10135	2.888000|2.888000	0.48594|0.48594	1.270000|1.270000	0.44297|0.44297	0.655000|0.655000	0.94253|0.94253	CCC|CCC		0.552	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1		
SACS	26278	broad.mit.edu	37	13	23910042	23910042	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr13:23910042G>T	ENST00000382292.3	-	9	8246	c.7973C>A	c.(7972-7974)gCc>gAc	p.A2658D	SACS_ENST00000402364.1_Missense_Mutation_p.A1908D|SACS_ENST00000382298.3_Missense_Mutation_p.A2658D			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2658					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.A2511D(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATGGATGTGGCCCCTGGTGC	0.418																																					p.A2658D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7973A	13						.						65.0	65.0	65.0					13																	23910042		2203	4298	6501	22808042	SO:0001583	missense	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7973C>A	13.37:g.23910042G>T	ENSP00000371729:p.Ala2658Asp		22808042	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558129	0.86231	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88201	-2.35;-2.35;-2.35	5.56	5.56	0.83823	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.91603	0.7347	L	0.31578	0.945	0.47905	D	0.999548	D	0.89917	1.0	D	0.83275	0.996	D	0.91903	0.5533	10	0.52906	T	0.07	.	19.5206	0.95183	0.0:0.0:1.0:0.0	.	2658	Q9NZJ4	SACS_HUMAN	D	2658;1908;2658	ENSP00000371729:A2658D;ENSP00000385844:A1908D;ENSP00000371735:A2658D	ENSP00000371729:A2658D	A	-	2	0	SACS	22808042	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.476000	0.97823	2.619000	0.88677	0.462000	0.41574	GCC		0.418	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SLC10A2	6555	broad.mit.edu	37	13	103718237	103718237	+	Silent	SNP	G	G	A	rs143992162	byFrequency	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr13:103718237G>A	ENST00000245312.3	-	1	959	c.363C>T	c.(361-363)ggC>ggT	p.G121G		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	121					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)	p.G121G(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	GGTCCATGTCGCCATCGACCC	0.493																																					p.G121G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C363T	13						.	G		0,4406		0,0,2203	79.0	75.0	76.0		363	-10.5	0.1	13	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC10A2	NM_000452.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		121/349	103718237	1,13005	2203	4300	6503	102516238	SO:0001819	synonymous_variant	6555	exon1			U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.363C>T	13.37:g.103718237G>A			102516238	NM_000452	A1L4F4|Q13839	Silent	SNP	ENST00000245312.3	37	CCDS9506.1																																																																																				0.493	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1		
RALGAPA1	253959	broad.mit.edu	37	14	36211639	36211639	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr14:36211639G>A	ENST00000389698.3	-	11	1774	c.1384C>T	c.(1384-1386)Ctc>Ttc	p.L462F	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.L462F|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.L462F|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.L462F	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	462					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.L462F(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATGCAAGGGAGGTCTGAAGAA	0.338																																					p.L462F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1384T	14						.						40.0	39.0	39.0					14																	36211639		2203	4294	6497	35281390	SO:0001583	missense	253959	exon11			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.1384C>T	14.37:g.36211639G>A	ENSP00000374348:p.Leu462Phe		35281390	NM_194301	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	5.851	0.341273	0.11069	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	4.98	-0.493	0.12038	.	1.198120	0.06074	N	0.660597	T	0.57036	0.2026	N	0.14661	0.345	0.09310	N	0.999999	B;B;P;B;B	0.35077	0.321;0.034;0.483;0.001;0.016	B;B;B;B;B	0.35312	0.2;0.028;0.144;0.007;0.009	T	0.46803	-0.9165	10	0.27082	T	0.32	-0.0854	1.8069	0.03082	0.2038:0.126:0.3878:0.2824	.	462;462;462;462;462	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	F	462	ENSP00000374348:L462F;ENSP00000302647:L462F;ENSP00000258840:L462F;ENSP00000371803:L462F;ENSP00000451877:L462F	ENSP00000258840:L462F	L	-	1	0	RALGAPA1	35281390	0.969000	0.33509	0.714000	0.30535	0.777000	0.43975	0.530000	0.23036	-0.108000	0.12066	0.484000	0.47621	CTC		0.338	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022	
ATP10A	57194	broad.mit.edu	37	15	25959289	25959289	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr15:25959289C>T	ENST00000356865.6	-	10	1987	c.1876G>A	c.(1876-1878)Ggg>Agg	p.G626R		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	626					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G626R(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCAGGCTCCCGATGCTGCTG	0.632																																					p.G626R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1876A	15						.						43.0	48.0	46.0					15																	25959289		2203	4300	6503	23510382	SO:0001583	missense	57194	exon10			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1876G>A	15.37:g.25959289C>T	ENSP00000349325:p.Gly626Arg		23510382	NM_024490	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085407	0.36758	.	.	ENSG00000206190	ENST00000356865	T	0.10477	2.87	4.07	0.913	0.19354	HAD-like domain (1);	0.300312	0.37715	N	0.001970	T	0.08133	0.0203	L	0.52573	1.65	0.37108	D	0.900227	P	0.39131	0.661	B	0.36534	0.227	T	0.19844	-1.0293	10	0.62326	D	0.03	-15.1712	2.3239	0.04218	0.4835:0.2813:0.0:0.2352	.	626	O60312	AT10A_HUMAN	R	626	ENSP00000349325:G626R	ENSP00000349325:G626R	G	-	1	0	ATP10A	23510382	1.000000	0.71417	0.171000	0.22900	0.370000	0.29829	1.657000	0.37366	0.915000	0.36847	0.561000	0.74099	GGG		0.632	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
ANKDD1A	348094	broad.mit.edu	37	15	65209671	65209671	+	Silent	SNP	C	C	T	rs201773834	byFrequency	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr15:65209671C>T	ENST00000380230.3	+	3	254	c.225C>T	c.(223-225)gaC>gaT	p.D75D	ANKDD1A_ENST00000395720.1_Silent_p.D75D|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000319580.8_Intron|ANKDD1A_ENST00000357698.3_Silent_p.D75D|ANKDD1A_ENST00000496660.1_Intron	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	75					signal transduction (GO:0007165)			p.D75D(1)		NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CTGCTGTGGACGAGGAGGATG	0.657													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18891	0.0		0.0	False		,,,				2504	0.0				p.D75D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C225T	15						.	C		3,4307		0,3,2152	19.0	22.0	21.0		225	-6.9	0.3	15		21	18,8504		0,18,4243	no	coding-synonymous	ANKDD1A	NM_182703.3		0,21,6395	TT,TC,CC		0.2112,0.0696,0.1637		75/523	65209671	21,12811	2155	4261	6416	62996724	SO:0001819	synonymous_variant	348094	exon3				CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.225C>T	15.37:g.65209671C>T			62996724	NM_182703	Q495B2|Q495B3|Q8N7A0|Q8NBS5	De_novo_Start_OutOfFrame	SNP	ENST00000380230.3	37	CCDS10197.2																																																																																				0.657	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703	
CYP1A1	1543	broad.mit.edu	37	15	75015038	75015038	+	Missense_Mutation	SNP	C	C	T	rs367709511		TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr15:75015038C>T	ENST00000379727.3	-	2	599	c.401G>A	c.(400-402)cGc>cAc	p.R134H	CYP1A1_ENST00000567032.1_Missense_Mutation_p.R134H|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000395048.2_Missense_Mutation_p.R134H|CYP1A1_ENST00000395049.4_Missense_Mutation_p.R134H			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	134					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)	p.R134H(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	CAGGCGCCGGCGGGCAGCCCA	0.587									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																												p.R134H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G401A	15						.	C	HIS/ARG	0,4394		0,0,2197	53.0	60.0	57.0		401	4.3	1.0	15		57	1,8587		0,1,4293	no	missense	CYP1A1	NM_000499.3	29	0,1,6490	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	134/513	75015038	1,12981	2197	4294	6491	72802091	SO:0001583	missense	1543	exon2	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.401G>A	15.37:g.75015038C>T	ENSP00000369050:p.Arg134His		72802091	NM_000499	A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797947	0.50208	0.0	1.16E-4	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.79247	-1.25;-1.25;-1.25	5.23	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.81692	0.4876	L	0.37507	1.11	0.80722	D	1	D;D	0.76494	0.966;0.999	P;D	0.68483	0.627;0.958	D	0.83744	0.0205	10	0.87932	D	0	.	14.181	0.65574	0.0:0.9262:0.0:0.0738	.	134;134	E7EMT5;P04798	.;CP1A1_HUMAN	H	134	ENSP00000369050:R134H;ENSP00000378488:R134H;ENSP00000378489:R134H	ENSP00000268062:R134H	R	-	2	0	CYP1A1	72802091	0.995000	0.38212	1.000000	0.80357	0.972000	0.66771	2.643000	0.46604	2.432000	0.82394	0.462000	0.41574	CGC		0.587	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499	
AKAP13	11214	broad.mit.edu	37	15	86266520	86266520	+	Silent	SNP	G	G	C			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr15:86266520G>C	ENST00000394518.2	+	26	6809	c.6714G>C	c.(6712-6714)gtG>gtC	p.V2238V	AKAP13_ENST00000361243.2_Silent_p.V2242V|AKAP13_ENST00000394510.2_Silent_p.V483V|RP11-158M2.2_ENST00000561417.1_RNA|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2238	Interaction with ESR1.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.V2242V(1)|p.V318V(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATGGGAGTGTGTTTCTGAAGA	0.418																																					p.V2242V	Melanoma(94;603 1453 3280 32295 32951)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G6726C	15						.						151.0	124.0	133.0					15																	86266520		2202	4299	6501	84067524	SO:0001819	synonymous_variant	11214	exon26			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6714G>C	15.37:g.86266520G>C			84067524	NM_006738	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	CCDS32319.1																																																																																				0.418	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200	
CERS3	204219	broad.mit.edu	37	15	100943017	100943017	+	Silent	SNP	C	C	T	rs541833197	byFrequency	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr15:100943017C>T	ENST00000394113.1	-	14	1743	c.1053G>A	c.(1051-1053)gaG>gaA	p.E351E	RP11-168G16.2_ENST00000560718.1_RNA|CERS3_ENST00000538112.2_Silent_p.E351E|RP11-168G16.2_ENST00000560643.1_RNA|CERS3_ENST00000284382.4_Silent_p.E351E|CERS3_ENST00000560944.1_5'UTR			Q8IU89	CERS3_HUMAN	ceramide synthase 3	351	Poly-Glu.				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.E351E(1)									cttcttcttcctcttcctctt	0.483																																					p.E351E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1053A	15						.						122.0	92.0	102.0					15																	100943017		2203	4300	6503	98760540	SO:0001819	synonymous_variant	204219	exon13				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.1053G>A	15.37:g.100943017C>T			98760540	NM_178842	Q8NE64|Q8NEN6	Silent	SNP	ENST00000394113.1	37	CCDS10384.1																																																																																				0.483	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842	
CBX8	57332	broad.mit.edu	37	17	77768661	77768662	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr17:77768661_77768662insG	ENST00000269385.4	-	5	1059_1060	c.942_943insC	c.(940-945)cccagcfs	p.S315fs	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	315					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)	p.S315fs*43(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCCCCAGAGCTGGGGGGGCCTG	0.693																																					p.S315fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.943_944insC	17						.																																			75383257	SO:0001589	frameshift_variant	57332	exon5			AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.943dupC	17.37:g.77768668_77768668dupG	ENSP00000269385:p.Ser315fs		75383256	NM_020649	Q96H39|Q9NR07	Frame_Shift_Ins	INS	ENST00000269385.4	37	CCDS11765.1																																																																																				0.693	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649	
MAP2K4	6416	broad.mit.edu	37	17	12028614	12028614	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr17:12028614G>T	ENST00000353533.5	+	8	880	c.817G>T	c.(817-819)Gaa>Taa	p.E273*	MAP2K4_ENST00000415385.3_Nonsense_Mutation_p.E284*|MAP2K4_ENST00000581941.1_3'UTR	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(3)|p.E273*(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GTTCCAGCCTGAAAGAATAGA	0.433			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																p.E273X			Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	.	.	14	Whole gene deletion(10)|Unknown(3)|Substitution - Nonsense(1)	breast(4)|ovary(4)|large_intestine(2)|lung(2)|biliary_tract(1)|pancreas(1)	c.G817T	17						.						196.0	157.0	170.0					17																	12028614		2203	4300	6503	11969339	SO:0001587	stop_gained	6416	exon8			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.817G>T	17.37:g.12028614G>T	ENSP00000262445:p.Glu273*		11969339	NM_003010	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Nonsense_Mutation	SNP	ENST00000353533.5	37	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754487	0.89843	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.8064	0.88602	0.0:0.0:1.0:0.0	.	.	.	.	X	273;284;250;145	.	ENSP00000262445:E273X	E	+	1	0	MAP2K4	11969339	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.561000	0.98142	2.814000	0.96858	0.563000	0.77884	GAA		0.433	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1		
TRAF4	9618	broad.mit.edu	37	17	27076452	27076452	+	Missense_Mutation	SNP	C	C	T	rs201034539		TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr17:27076452C>T	ENST00000262395.5	+	7	1399	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W	AC010761.9_ENST00000577325.1_RNA|AC010761.10_ENST00000579468.1_RNA|TRAF4_ENST00000262396.6_Intron|TRAF4_ENST00000444415.3_Intron	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	424	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)	p.R424W(1)		endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			AGGCACGTGGCGGGGCTCCCT	0.557																																					p.R424W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1270T	17						.	C	TRP/ARG	0,4406		0,0,2203	55.0	55.0	55.0		1270	1.4	1.0	17		55	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TRAF4	NM_004295.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	424/471	27076452	1,13005	2203	4300	6503	24100579	SO:0001583	missense	9618	exon7			X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.1270C>T	17.37:g.27076452C>T	ENSP00000262395:p.Arg424Trp		24100579	NM_004295	O75615|Q14848|Q2KJU4|Q2PJN8	Missense_Mutation	SNP	ENST00000262395.5	37	CCDS11243.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252308	0.59212	0.0	1.16E-4	ENSG00000076604	ENST00000262395;ENST00000394924;ENST00000394925	T	0.22336	1.96	6.11	1.35	0.21983	TRAF-type (1);TRAF-like (1);MATH (3);	0.176726	0.51477	D	0.000081	T	0.23492	0.0568	M	0.79123	2.44	0.80722	D	1	B	0.29671	0.254	B	0.24006	0.05	T	0.12682	-1.0538	10	0.87932	D	0	.	10.2408	0.43310	0.434:0.4997:0.0:0.0663	.	424	Q9BUZ4	TRAF4_HUMAN	W	424;121;98	ENSP00000262395:R424W	ENSP00000262395:R424W	R	+	1	2	TRAF4	24100579	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.208000	0.42797	0.432000	0.26286	0.655000	0.94253	CGG		0.557	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751	
SLC6A4	6532	broad.mit.edu	37	17	28536213	28536213	+	Silent	SNP	G	G	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr17:28536213G>A	ENST00000401766.2	-	11	2009	c.1497C>T	c.(1495-1497)ccC>ccT	p.P499P	RP11-354P11.4_ENST00000581633.1_RNA|SLC6A4_ENST00000261707.3_Silent_p.P499P			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	499					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)	p.P499P(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	TGAGCACTGCGGGCCCCGTGG	0.632																																					p.P499P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1497T	17						.						85.0	77.0	79.0					17																	28536213		2203	4300	6503	25560339	SO:0001819	synonymous_variant	6532	exon12			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.1497C>T	17.37:g.28536213G>A			25560339	NM_001045	Q5EE02	Silent	SNP	ENST00000401766.2	37	CCDS11256.1																																																																																				0.632	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045	
PIP4K2B	8396	broad.mit.edu	37	17	36927475	36927475	+	Silent	SNP	G	G	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr17:36927475G>A	ENST00000269554.3	-	8	1338	c.858C>T	c.(856-858)caC>caT	p.H286H		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	286	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)	p.H286H(1)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						GGTCCACGTCGTGGATGCCCA	0.572																																					p.H286H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C858T	17						.						124.0	95.0	105.0					17																	36927475		2203	4300	6503	34181001	SO:0001819	synonymous_variant	8396	exon8			U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.858C>T	17.37:g.36927475G>A			34181001	NM_003559	Q5U0E8|Q8TBP2	Silent	SNP	ENST00000269554.3	37	CCDS11329.1																																																																																				0.572	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559	
KRTAP4-12	83755	broad.mit.edu	37	17	39280162	39280162	+	Silent	SNP	A	A	G	rs28515113	byFrequency	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr17:39280162A>G	ENST00000394014.1	-	1	257	c.213T>C	c.(211-213)tgT>tgC	p.C71C		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	71	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament (GO:0045095)		p.C71C(3)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGGTGGTCCTACAGCAGGTGG	0.677													A|||	863	0.172324	0.4357	0.1138	5008	,	,		14227	0.1389		0.0477	False		,,,				2504	0.0204				p.C71C												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.T213C	17						.	A		192,3702		9,174,1764	31.0	55.0	47.0		213	-2.0	0.0	17	dbSNP_125	47	5,8543		0,5,4269	no	coding-synonymous	KRTAP4-12	NM_031854.2		9,179,6033	GG,GA,AA		0.0585,4.9307,1.5833		71/202	39280162	197,12245	1947	4274	6221	36533688	SO:0001819	synonymous_variant	83755	exon1			AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"""Keratin associated proteins"""	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.213T>C	17.37:g.39280162A>G			36533688	NM_031854	A3KMC5|Q495I0	Silent	SNP	ENST00000394014.1	37	CCDS32649.1																																																																																				0.677	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257777.1		
HELZ	9931	broad.mit.edu	37	17	65105760	65105760	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr17:65105760G>A	ENST00000358691.5	-	29	4127	c.3961C>T	c.(3961-3963)Cgt>Tgt	p.R1321C	HELZ_ENST00000580168.1_Missense_Mutation_p.R1322C	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1321						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R1321C(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ACACTAGGACGTGATTCAGGA	0.413																																					p.R1321C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3961T	17						.						153.0	147.0	149.0					17																	65105760		1888	4123	6011	62536222	SO:0001583	missense	9931	exon29			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3961C>T	17.37:g.65105760G>A	ENSP00000351524:p.Arg1321Cys		62536222	NM_014877	I6L9H4	De_novo_Start_OutOfFrame	SNP	ENST00000358691.5	37	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320329	0.41096	.	.	ENSG00000198265	ENST00000358691	D	0.84223	-1.82	5.81	5.81	0.92471	.	0.051896	0.85682	D	0.000000	D	0.89378	0.6698	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	D	0.89901	0.4044	10	0.72032	D	0.01	-16.5084	20.0742	0.97736	0.0:0.0:1.0:0.0	.	1322;1321	B7ZLW2;P42694	.;HELZ_HUMAN	C	1321	ENSP00000351524:R1321C	ENSP00000351524:R1321C	R	-	1	0	HELZ	62536222	1.000000	0.71417	0.995000	0.50966	0.874000	0.50279	6.629000	0.74267	2.752000	0.94435	0.637000	0.83480	CGT		0.413	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877	
ST8SIA5	29906	broad.mit.edu	37	18	44260371	44260371	+	Silent	SNP	G	G	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr18:44260371G>A	ENST00000315087.7	-	7	1425	c.765C>T	c.(763-765)acC>acT	p.T255T	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Silent_p.T291T|ST8SIA5_ENST00000536490.1_Silent_p.T224T	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	255					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.T255T(1)		kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TGGACACGTCGGTGTTGCGCG	0.597																																					p.T255T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C765T	18						.						99.0	56.0	71.0					18																	44260371		2203	4300	6503	42514369	SO:0001819	synonymous_variant	29906	exon7			U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.765C>T	18.37:g.44260371G>A			42514369	NM_013305	B7Z1K9|Q6IAW7	Silent	SNP	ENST00000315087.7	37	CCDS11930.1																																																																																				0.597	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305	
KIAA1683	80726	broad.mit.edu	37	19	18376110	18376111	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	-	-	-	-	-	-	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr19:18376110_18376111insG	ENST00000600328.3	-	3	2432_2433	c.2239_2240insC	c.(2239-2241)cagfs	p.Q747fs	KIAA1683_ENST00000600359.3_Frame_Shift_Ins_p.Q701fs|KIAA1683_ENST00000392413.4_Frame_Shift_Ins_p.Q747fs			Q9H0B3	K1683_HUMAN	KIAA1683	747						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGTGATCGGCTGCCCCCGGGAC	0.609																																					p.Q747fs												.	.	0			c.2240_2241insC	19						.																																			18237111	SO:0001589	frameshift_variant	80726	exon3			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2240dupC	19.37:g.18376111_18376111dupG	ENSP00000470780:p.Gln747fs		18237110	NM_025249	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Frame_Shift_Ins	INS	ENST00000600328.3	37	CCDS32958.1																																																																																				0.609	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3		
CACNA1A	773	broad.mit.edu	37	19	13397513	13397513	+	Silent	SNP	G	G	A	rs372364153		TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr19:13397513G>A	ENST00000360228.5	-	20	3356	c.3357C>T	c.(3355-3357)gcC>gcT	p.A1119A	CACNA1A_ENST00000573710.2_Silent_p.A1120A	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1120					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.A1120A(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCGGCTGGCGGCGTTCTGGG	0.701																																					p.A1120A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3360T	19						.	G	,,,,	1,3793		0,1,1896	19.0	23.0	22.0		3369,3360,3357,3360,3369	-4.9	0.1	19		22	0,8194		0,0,4097	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	0,1,5993	AA,AG,GG		0.0,0.0264,0.0083	,,,,	1123/2267,1120/2262,1119/2507,1120/2264,1123/2513	13397513	1,11987	1897	4097	5994	13258513	SO:0001819	synonymous_variant	773	exon20			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.3357C>T	19.37:g.13397513G>A			13258513	NM_001174080	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																				0.701	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
ARRDC2	27106	broad.mit.edu	37	19	18121520	18121520	+	Silent	SNP	G	G	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr19:18121520G>A	ENST00000222250.4	+	7	1295	c.1152G>A	c.(1150-1152)ccG>ccA	p.P384P	ARRDC2_ENST00000379656.3_Silent_p.P379P	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	384					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)		p.P379P(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GCTACCGCCCGCCACCCCTGT	0.627																																					p.P379P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1137A	19						.						41.0	41.0	41.0					19																	18121520		2203	4300	6503	17982520	SO:0001819	synonymous_variant	27106	exon7				CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.1152G>A	19.37:g.18121520G>A			17982520	NM_001025604	B2RBG9|O95895|Q6ZRV9|Q8WYG6	Silent	SNP	ENST00000222250.4	37	CCDS12370.1																																																																																				0.627	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	NM_015683	
TSHZ3	57616	broad.mit.edu	37	19	31769081	31769081	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr19:31769081C>T	ENST00000240587.4	-	2	1945	c.1618G>A	c.(1618-1620)Ggc>Agc	p.G540S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	540					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G357S(1)|p.G540S(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTAGGAGTGCCGTTCTGGGCC	0.547																																					p.G540S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1618A	19						.						129.0	129.0	129.0					19																	31769081		2203	4300	6503	36460921	SO:0001583	missense	57616	exon2			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1618G>A	19.37:g.31769081C>T	ENSP00000240587:p.Gly540Ser		36460921	NM_020856	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644846	0.87859	.	.	ENSG00000121297	ENST00000240587	T	0.59502	0.26	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.59945	0.2231	M	0.73598	2.24	0.80722	D	1	P	0.45827	0.867	B	0.37387	0.248	T	0.69774	-0.5054	10	0.87932	D	0	-41.0333	19.1896	0.93660	0.0:1.0:0.0:0.0	.	540	Q63HK5	TSH3_HUMAN	S	540	ENSP00000240587:G540S	ENSP00000240587:G540S	G	-	1	0	TSHZ3	36460921	1.000000	0.71417	0.965000	0.40720	0.985000	0.73830	7.461000	0.80834	2.519000	0.84933	0.655000	0.94253	GGC		0.547	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856	
DLL3	10683	broad.mit.edu	37	19	39995967	39995967	+	Silent	SNP	C	C	T	rs139638161	byFrequency	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr19:39995967C>T	ENST00000205143.4	+	6	976	c.969C>T	c.(967-969)aaC>aaT	p.N323N	DLL3_ENST00000356433.5_Silent_p.N323N	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	323	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)	p.N323N(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCTGCTTCAACGGCGGCTTGT	0.622													C|||	2	0.000399361	0.0	0.0	5008	,	,		17849	0.002		0.0	False		,,,				2504	0.0				p.N323N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C969T	19						.						151.0	132.0	138.0					19																	39995967		2203	4300	6503	44687807	SO:0001819	synonymous_variant	10683	exon6			AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"""delta (Drosophila)-like 3"""			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.969C>T	19.37:g.39995967C>T			44687807	NM_203486	E9PFG2|Q8NBS4	Silent	SNP	ENST00000205143.4	37	CCDS12538.1																																																																																				0.622	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1		
CYP2A7	1549	broad.mit.edu	37	19	41387525	41387525	+	Missense_Mutation	SNP	T	T	G	rs545708572		TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr19:41387525T>G	ENST00000301146.4	-	2	853	c.312A>C	c.(310-312)caA>caC	p.Q104H	CYP2A7_ENST00000291764.3_Intron|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	104						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.Q104H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CGAAGGTGGCTTGCTCGCCTC	0.637																																					p.Q104H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A312C	19						.						71.0	61.0	64.0					19																	41387525		2203	4297	6500	46079365	SO:0001583	missense	1549	exon2			NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.312A>C	19.37:g.41387525T>G	ENSP00000301146:p.Gln104His		46079365	NM_000764	Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	T	1.263	-0.615329	0.03663	.	.	ENSG00000198077	ENST00000301146	T	0.68903	-0.36	2.18	-0.475	0.12104	.	0.387972	0.24141	U	0.041178	T	0.44953	0.1318	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.34290	0.265;0.447	B;B	0.33521	0.102;0.165	T	0.25117	-1.0141	10	0.30078	T	0.28	.	4.1957	0.10441	0.0:0.5552:0.1886:0.2562	.	104;104	B7ZKR0;P20853	.;CP2A7_HUMAN	H	104	ENSP00000301146:Q104H	ENSP00000301146:Q104H	Q	-	3	2	CYP2A7	46079365	0.000000	0.05858	0.073000	0.20177	0.241000	0.25554	0.250000	0.18235	-0.155000	0.11098	-1.372000	0.01188	CAA		0.637	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589	
ARHGEF1	9138	broad.mit.edu	37	19	42396715	42396715	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr19:42396715C>T	ENST00000354532.3	+	7	557	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	ARHGEF1_ENST00000599846.1_Missense_Mutation_p.R137W|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R119W|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R104W|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R152W	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	137	RGSL.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R152W(1)		breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TGTCCAGCGGCGGTTCGTGCA	0.662																																					p.R104W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C310T	19						.						39.0	40.0	40.0					19																	42396715		2203	4300	6503	47088555	SO:0001583	missense	9138	exon6			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.409C>T	19.37:g.42396715C>T	ENSP00000346532:p.Arg137Trp		47088555	NM_198977	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661160	0.67700	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	4.32	4.32	0.51571	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.159975	0.39687	N	0.001298	D	0.86222	0.5881	L	0.34521	1.04	0.34586	D	0.715026	D;D;D;D;D	0.89917	1.0;0.998;0.987;0.995;1.0	D;P;P;P;D	0.67900	0.954;0.458;0.629;0.616;0.944	D	0.89736	0.3930	10	0.87932	D	0	-9.0256	10.0713	0.42335	0.2011:0.7989:0.0:0.0	.	119;152;104;137;197	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	W	137;104;173;152;119	ENSP00000346532:R137W;ENSP00000344429:R104W;ENSP00000337261:R152W;ENSP00000367394:R119W	ENSP00000323044:R173W	R	+	1	2	ARHGEF1	47088555	0.989000	0.36119	0.998000	0.56505	0.832000	0.47134	2.557000	0.45871	2.157000	0.67596	0.306000	0.20318	CGG		0.662	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002	
EML2	24139	broad.mit.edu	37	19	46136210	46136210	+	Missense_Mutation	SNP	C	C	T	rs371712778		TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr19:46136210C>T	ENST00000245925.3	-	6	469	c.419G>A	c.(418-420)cGc>cAc	p.R140H	EML2_ENST00000586902.1_5'Flank|EML2_ENST00000536630.1_Missense_Mutation_p.R287H|EML2_ENST00000587152.1_Missense_Mutation_p.R341H|EML2_ENST00000589876.1_Missense_Mutation_p.R140H	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	140	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.R140H(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GTCCCAGATGCGCACGTGGGG	0.587																																					p.R287H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G860A	19						.						125.0	99.0	108.0					19																	46136210		2203	4300	6503	50828050	SO:0001583	missense	24139	exon9			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.419G>A	19.37:g.46136210C>T	ENSP00000245925:p.Arg140His		50828050	NM_001193269	B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639917	0.87760	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.42900	0.96;0.96;4.88	4.97	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.57873	0.2083	L	0.49350	1.555	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.996;0.998;0.999	T	0.52223	-0.8604	10	0.33141	T	0.24	-32.5005	15.7695	0.78157	0.0:1.0:0.0:0.0	.	140;306;287;298;140	B7Z918;B7Z3Q9;B7Z3I2;B7Z872;O95834	.;.;.;.;EMAL2_HUMAN	H	287;140;341;298	ENSP00000442365:R287H;ENSP00000245925:R140H;ENSP00000382503:R298H	ENSP00000245925:R140H	R	-	2	0	EML2	50828050	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.509000	0.67012	2.567000	0.86603	0.563000	0.77884	CGC		0.587	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155	
NCR1	9437	broad.mit.edu	37	19	55417663	55417663	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr19:55417663G>A	ENST00000291890.4	+	2	79	c.41G>A	c.(40-42)tGt>tAt	p.C14Y	NCR1_ENST00000350790.5_Missense_Mutation_p.C14Y|NCR1_ENST00000447255.1_Missense_Mutation_p.C14Y|NCR1_ENST00000598576.1_Intron|NCR1_ENST00000594765.1_Missense_Mutation_p.C14Y|NCR1_ENST00000338835.5_Missense_Mutation_p.C14Y|NCR1_ENST00000357397.5_Intron	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	14					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)	p.C14Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CCAGGGCTGTGTCTGAGTCAG	0.612																																					p.C14Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G41A	19						.						109.0	89.0	96.0					19																	55417663		2203	4300	6503	60109475	SO:0001583	missense	9437	exon2			AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.41G>A	19.37:g.55417663G>A	ENSP00000291890:p.Cys14Tyr		60109475	NM_004829	B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411525	0.25465	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790	T;T;T;T	0.00529	6.78;6.81;6.9;6.82	3.31	0.00309	0.14053	.	0.885699	0.09766	N	0.758566	T	0.00412	0.0013	L	0.49126	1.545	0.80722	D	1	B;B;B;B;B	0.19331	0.001;0.006;0.001;0.035;0.021	B;B;B;B;B	0.13407	0.002;0.004;0.002;0.009;0.004	T	0.54576	-0.8273	10	0.49607	T	0.09	.	0.9243	0.01321	0.1547:0.2344:0.3716:0.2393	.	14;14;14;14;14	B0V3L4;B0V3L5;B0V3L2;O76036-6;O76036	.;.;.;.;NCTR1_HUMAN	Y	14	ENSP00000291890:C14Y;ENSP00000404434:C14Y;ENSP00000339515:C14Y;ENSP00000344358:C14Y	ENSP00000291890:C14Y	C	+	2	0	NCR1	60109475	0.035000	0.19736	0.980000	0.43619	0.903000	0.53119	-0.361000	0.07612	0.056000	0.16144	0.650000	0.86243	TGT		0.612	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1		
MUC16	94025	broad.mit.edu	37	19	9089222	9089222	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr19:9089222C>A	ENST00000397910.4	-	1	2796	c.2593G>T	c.(2593-2595)Gaa>Taa	p.E865*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	865	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.E865*(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						TCCTCTGTTTCTTCTCCACTA	0.473																																					p.E865X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2593T	19						.						82.0	82.0	82.0					19																	9089222		1930	4121	6051	8950222	SO:0001587	stop_gained	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.2593G>T	19.37:g.9089222C>A	ENSP00000381008:p.Glu865*		8950222	NM_024690	Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	38	7.151620	0.98099	.	.	ENSG00000181143	ENST00000397910	.	.	.	1.45	-1.21	0.09524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.2224	0.06720	0.2958:0.4115:0.2927:0.0	.	.	.	.	X	865	.	ENSP00000381008:E865X	E	-	1	0	MUC16	8950222	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.333000	0.19768	-0.252000	0.09528	0.205000	0.17691	GAA		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ZNF324	25799	broad.mit.edu	37	19	58983149	58983149	+	Silent	SNP	C	C	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr19:58983149C>T	ENST00000536459.2	+	4	1999	c.1290C>T	c.(1288-1290)tgC>tgT	p.C430C	ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000196482.3_Silent_p.C430C|ZNF324_ENST00000535298.1_Silent_p.C207C			O75467	Z324A_HUMAN	zinc finger protein 324	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C430C(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCCCACAGTGCGGCCGCGCCT	0.677																																					p.C430C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1290T	19						.						38.0	39.0	39.0					19																	58983149		2203	4300	6503	63674961	SO:0001819	synonymous_variant	25799	exon4			AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1290C>T	19.37:g.58983149C>T			63674961	NM_014347	B3KRX1	Silent	SNP	ENST00000536459.2	37	CCDS12981.1																																																																																				0.677	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347	
FLG2	388698	broad.mit.edu	37	1	152329514	152329514	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr1:152329514C>A	ENST00000388718.5	-	3	820	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	250	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.E250*(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTTTGATTCATGCCCACTA	0.463																																					p.E250X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G748T	1						.						151.0	145.0	147.0					1																	152329514		2203	4300	6503	150596138	SO:0001587	stop_gained	388698	exon3			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.748G>T	1.37:g.152329514C>A	ENSP00000373370:p.Glu250*		150596138	NM_001014342	Q9H4U1	Nonsense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628697	0.87560	.	.	ENSG00000143520	ENST00000388718	.	.	.	5.05	2.18	0.27775	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-7.4846	6.9425	0.24500	0.0:0.7166:0.0:0.2834	.	.	.	.	X	250	.	ENSP00000373370:E250X	E	-	1	0	FLG2	150596138	.	.	0.171000	0.22900	0.754000	0.42855	.	.	0.304000	0.22809	0.650000	0.86243	GAA		0.463	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
PGLYRP3	114771	broad.mit.edu	37	1	153270580	153270580	+	Missense_Mutation	SNP	G	G	A	rs142436988	byFrequency	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr1:153270580G>A	ENST00000290722.1	-	7	930	c.878C>T	c.(877-879)gCg>gTg	p.A293V		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	293					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.A293V(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCCTGGGCCGCCTCCAGCGC	0.552													N|||	36	0.0071885	0.0257	0.0014	5008	,	,		18353	0.0		0.001	False		,,,				2504	0.0				p.A293V												.	.	2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)	c.C878T	1						.	G	VAL/ALA	95,4311		3,89,2111	240.0	216.0	224.0		878	1.2	0.8	1	dbSNP_134	224	3,8597		0,3,4297	yes	missense	PGLYRP3	NM_052891.1	64	3,92,6408	AA,AG,GG		0.0349,2.1562,0.7535	probably-damaging	293/342	153270580	98,12908	2203	4300	6503	151537204	SO:0001583	missense	114771	exon7			AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.878C>T	1.37:g.153270580G>A	ENSP00000290722:p.Ala293Val		151537204	NM_052891	A1A4U8|Q5SY65	Missense_Mutation	SNP	ENST00000290722.1	37	CCDS1035.1	19	0.0086996336996337	16	0.032520325203252036	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	N	13.33	2.204452	0.38905	0.021562	3.49E-4	ENSG00000159527	ENST00000290722	T	0.18174	2.23	4.26	1.17	0.20885	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.107096	0.38720	N	0.001586	T	0.25232	0.0613	M	0.80746	2.51	0.42130	D	0.991462	D	0.89917	1.0	D	0.91635	0.999	T	0.03315	-1.1049	10	0.52906	T	0.07	-33.6909	6.5654	0.22509	0.1202:0.1595:0.7203:0.0	.	293	Q96LB9	PGRP3_HUMAN	V	293	ENSP00000290722:A293V	ENSP00000290722:A293V	A	-	2	0	PGLYRP3	151537204	0.109000	0.22037	0.846000	0.33378	0.234000	0.25298	2.113000	0.41902	0.450000	0.26774	-0.920000	0.02741	GCG		0.552	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891	
PADI6	353238	broad.mit.edu	37	1	17721448	17721448	+	RNA	SNP	G	G	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr1:17721448G>A	ENST00000434762.2	+	0	1390							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.A446T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TCCTTCTAGCGCAGAGGGCCG	0.602																																					p.R447H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1340A	1						.						29.0	33.0	32.0					1																	17721448		2067	4233	6300	17594035			353238	exon12			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17721448G>A			17594035	NM_207421	Q330K5|Q70SX3	Missense_Mutation	SNP	ENST00000434762.2	37																																																																																					0.602	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421	
CADM3	57863	broad.mit.edu	37	1	159141622	159141622	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr1:159141622G>A	ENST00000368125.4	+	1	224	c.67G>A	c.(67-69)Ggg>Agg	p.G23R	CADM3_ENST00000368124.4_Missense_Mutation_p.G23R	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	23					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.G23R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GGCGCCCGGCGGGGCCAACCT	0.761																																					p.G23R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G67A	1						.						2.0	3.0	3.0					1																	159141622		1617	3542	5159	157408246	SO:0001583	missense	57863	exon1			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.67G>A	1.37:g.159141622G>A	ENSP00000357107:p.Gly23Arg		157408246	NM_021189	Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593119	0.46214	.	.	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	T;T;T	0.77750	-1.12;0.49;4.03	3.72	3.72	0.42706	Immunoglobulin-like (1);	0.000000	0.31721	U	0.007174	T	0.46600	0.1401	L	0.29908	0.895	0.30073	N	0.809847	B;D;P	0.54207	0.29;0.965;0.706	B;B;B	0.33521	0.018;0.114;0.165	T	0.55237	-0.8172	10	0.87932	D	0	.	11.2365	0.48944	0.0:0.0:1.0:0.0	.	23;23;23	Q8N126-3;Q8N126;Q8N126-2	.;CADM3_HUMAN;.	R	23	ENSP00000357106:G23R;ENSP00000357107:G23R;ENSP00000387802:G23R	ENSP00000357106:G23R	G	+	1	0	CADM3	157408246	0.998000	0.40836	1.000000	0.80357	0.955000	0.61496	1.534000	0.36051	2.078000	0.62432	0.551000	0.68910	GGG		0.761	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189	
IL24	11009	broad.mit.edu	37	1	207073677	207073677	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr1:207073677A>T	ENST00000294984.2	+	4	552	c.278A>T	c.(277-279)cAg>cTg	p.Q93L	IL24_ENST00000367093.3_Missense_Mutation_p.Q94L|IL24_ENST00000391929.3_Missense_Mutation_p.Q94L|IL24_ENST00000491169.1_3'UTR	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	93					apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)		p.Q93L(1)		endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					CGGCTGCTGCAGCAGGAGGTT	0.552																																					p.Q94L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A281T	1						.						66.0	62.0	64.0					1																	207073677		2203	4300	6503	205140300	SO:0001583	missense	11009	exon4			U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892		"""Interleukins and interleukin receptors"""	11346	protein-coding gene	gene with protein product	"""melanoma differentiation association protein 7"", ""suppression of tumorigenicity 16 (melanoma differentiation)"", ""IL-4-induced secreted protein"""	604136		ST16		8545104, 8799171	Standard	NM_001185156		Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	Q13007	OTTHUMG00000036459	ENST00000294984.2:c.278A>T	1.37:g.207073677A>T	ENSP00000294984:p.Gln93Leu		205140300	NM_001185156	Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	Missense_Mutation	SNP	ENST00000294984.2	37	CCDS1471.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.869|6.869	0.529686|0.529686	0.13127|0.13127	.|.	.|.	ENSG00000162892|ENSG00000162892	ENST00000391929;ENST00000294984;ENST00000367093|ENST00000480741	T;T;T|.	0.17528|.	2.27;2.27;2.27|.	4.3|4.3	-1.18|-1.18	0.09617|0.09617	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);|.	0.852017|.	0.10360|.	N|.	0.684064|.	T|T	0.40909|0.40909	0.1136|0.1136	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B;B|.	0.24721|.	0.11;0.095;0.095|.	B;B;B|.	0.26969|.	0.075;0.069;0.069|.	T|T	0.43734|0.43734	-0.9373|-0.9373	9|5	0.59425|0.87932	D|D	0.04|0	.|.	7.7897|7.7897	0.29112|0.29112	0.4719:0.0:0.5281:0.0|0.4719:0.0:0.5281:0.0	.|.	94;94;93|.	Q2YHE5;Q53XZ7;Q13007|.	.;.;IL24_HUMAN|.	L|C	94;93;94|28	ENSP00000375795:Q94L;ENSP00000294984:Q93L;ENSP00000356060:Q94L|.	ENSP00000294984:Q93L|ENSP00000356062:S28C	Q|S	+|+	2|1	0|0	IL24|IL24	205140300|205140300	0.006000|0.006000	0.16342|0.16342	0.009000|0.009000	0.14445|0.14445	0.017000|0.017000	0.09413|0.09413	-0.163000|-0.163000	0.09997|0.09997	-0.478000|-0.478000	0.06823|0.06823	-0.366000|-0.366000	0.07423|0.07423	CAG|AGC		0.552	IL24-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088680.2	NM_006850	
KIF26B	55083	broad.mit.edu	37	1	245704129	245704129	+	Silent	SNP	C	C	T	rs372159973		TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr1:245704129C>T	ENST00000407071.2	+	5	1667	c.1227C>T	c.(1225-1227)tcC>tcT	p.S409S	KIF26B_ENST00000366518.4_Silent_p.S28S	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	409					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.S409S(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCACTTCTTCCGCTGCCGAAC	0.517																																					p.S409S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1227T	1						.	C		2,3742		0,2,1870	89.0	91.0	90.0		1227	-9.5	0.0	1		90	0,8196		0,0,4098	no	coding-synonymous	KIF26B	NM_018012.3		0,2,5968	TT,TC,CC		0.0,0.0534,0.0168		409/2109	245704129	2,11938	1872	4098	5970	243770752	SO:0001819	synonymous_variant	55083	exon5			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1227C>T	1.37:g.245704129C>T			243770752	NM_018012	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	CCDS44342.1																																																																																				0.517	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354	
TESK2	10420	broad.mit.edu	37	1	45813304	45813304	+	Nonsense_Mutation	SNP	G	G	A	rs375688752		TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr1:45813304G>A	ENST00000372086.3	-	7	1085	c.685C>T	c.(685-687)Cga>Tga	p.R229*	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000538496.1_Nonsense_Mutation_p.R146*|TESK2_ENST00000341771.6_Nonsense_Mutation_p.R229*|TESK2_ENST00000372084.1_Nonsense_Mutation_p.R229*	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	229	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R213*(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					GGCTCATCTCGGAGAACCTCA	0.463																																					p.R229X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C685T	1						.	G	stop/ARG	0,3806		0,0,1903	122.0	124.0	123.0		685	4.1	1.0	1		123	1,8273		0,1,4136	no	stop-gained	TESK2	NM_007170.2		0,1,6039	AA,AG,GG		0.0121,0.0,0.0083		229/572	45813304	1,12079	1903	4137	6040	45585891	SO:0001587	stop_gained	10420	exon7			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.685C>T	1.37:g.45813304G>A	ENSP00000361158:p.Arg229*		45585891	NM_007170	Q5T422|Q5T423|Q8N520|Q9Y3Q6	Nonsense_Mutation	SNP	ENST00000372086.3	37	CCDS41323.1	.	.	.	.	.	.	.	.	.	.	G	38	7.161401	0.98103	0.0	1.21E-4	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000538496	.	.	.	6.07	4.09	0.47781	.	0.000000	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.3353	13.6132	0.62092	0.0:0.0:0.524:0.476	.	.	.	.	X	229;229;213;229;146	.	ENSP00000343940:R229X	R	-	1	2	TESK2	45585891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.026000	0.30103	1.511000	0.48818	0.650000	0.86243	CGA		0.463	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170	
ZYG11B	79699	broad.mit.edu	37	1	53236941	53236941	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr1:53236941C>T	ENST00000294353.6	+	3	591	c.446C>T	c.(445-447)tCc>tTc	p.S149F	ZYG11B_ENST00000443756.2_Missense_Mutation_p.S149F|ZYG11B_ENST00000545132.1_Missense_Mutation_p.S149F	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	149								p.S149F(1)		breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TTAACTCTCTCCCTCGAGGAT	0.468																																					p.S149F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C446T	1						.						93.0	90.0	91.0					1																	53236941		2203	4300	6503	53009529	SO:0001583	missense	79699	exon3			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.446C>T	1.37:g.53236941C>T	ENSP00000294353:p.Ser149Phe		53009529	NM_024646	Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	37	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609813	0.66558	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T;T	0.07908	3.15;3.15;3.15	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	M	0.62723	1.935	0.58432	D	0.999998	D;P	0.58620	0.983;0.875	P;P	0.56865	0.808;0.509	T	0.05162	-1.0902	10	0.09843	T	0.71	.	19.6182	0.95643	0.0:1.0:0.0:0.0	.	149;149	B4DK95;Q9C0D3	.;ZY11B_HUMAN	F	149	ENSP00000400522:S149F;ENSP00000441315:S149F;ENSP00000294353:S149F	ENSP00000294353:S149F	S	+	2	0	ZYG11B	53009529	1.000000	0.71417	0.842000	0.33263	0.695000	0.40330	7.354000	0.79424	2.653000	0.90120	0.650000	0.86243	TCC		0.468	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646	
OR2M4	26245	broad.mit.edu	37	1	248403030	248403030	+	Missense_Mutation	SNP	C	C	T	rs144697226	byFrequency	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr1:248403030C>T	ENST00000306687.1	+	1	800	c.800C>T	c.(799-801)aCg>aTg	p.T267M		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	267					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T267M(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTAAACATACGCCAGACCAG	0.517													t|||	11	0.00219649	0.0045	0.0014	5008	,	,		18038	0.0		0.0	False		,,,				2504	0.0041				p.T267M												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C800T	1						.	T	MET/THR	29,4377	823.6+/-416.5	0,29,2174	131.0	113.0	119.0		800	1.4	0.0	1	dbSNP_134	119	1,8599	819.2+/-406.8	0,1,4299	yes	missense	OR2M4	NM_017504.1	81	0,30,6473	TT,TC,CC		0.0116,0.6582,0.2307	probably-damaging	267/312	248403030	30,12976	2203	4300	6503	246469653	SO:0001583	missense	26245	exon1			X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.800C>T	1.37:g.248403030C>T	ENSP00000306688:p.Thr267Met		246469653	NM_017504	Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	CCDS31108.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	t	7.287	0.610196	0.14066	0.006582	1.16E-4	ENSG00000171180	ENST00000306687	T	0.00130	8.69	3.34	1.42	0.22433	GPCR, rhodopsin-like superfamily (1);	2.248960	0.02593	N	0.100179	T	0.00210	0.0006	L	0.45228	1.405	0.09310	N	1	D	0.71674	0.998	D	0.65140	0.932	T	0.50742	-0.8792	10	0.72032	D	0.01	.	3.4528	0.07505	0.298:0.4908:0.0:0.2112	.	267	Q96R27	OR2M4_HUMAN	M	267	ENSP00000306688:T267M	ENSP00000306688:T267M	T	+	2	0	OR2M4	246469653	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	-0.096000	0.11059	0.238000	0.21222	-1.215000	0.01618	ACG		0.517	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504	
DNMT3B	1789	broad.mit.edu	37	20	31383226	31383226	+	Nonsense_Mutation	SNP	C	C	T	rs376213530		TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr20:31383226C>T	ENST00000328111.2	+	11	1459	c.1138C>T	c.(1138-1140)Cga>Tga	p.R380*	DNMT3B_ENST00000201963.3_Nonsense_Mutation_p.R372*|DNMT3B_ENST00000456297.2_Nonsense_Mutation_p.R284*|DNMT3B_ENST00000375623.4_Silent_p.L269L|DNMT3B_ENST00000353855.2_Nonsense_Mutation_p.R360*|DNMT3B_ENST00000348286.2_Nonsense_Mutation_p.R360*|DNMT3B_ENST00000443239.3_Nonsense_Mutation_p.R318*|DNMT3B_ENST00000344505.4_Nonsense_Mutation_p.R360*	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	380					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)	p.R380*(1)|p.R372*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAACAAGACTCGAAGACGCAC	0.552																																					p.R360X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1078T	20						.	C	stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	102.0	108.0	106.0		952,850,1138,1078,1078,1114	3.9	0.5	20		106	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	DNMT3B	NM_001207055.1,NM_001207056.1,NM_006892.3,NM_175848.1,NM_175849.1,NM_175850.2	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	318/729,284/695,380/854,360/834,360/771,372/846	31383226	1,13005	2203	4300	6503	30846887	SO:0001587	stop_gained	1789	exon10				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1138C>T	20.37:g.31383226C>T	ENSP00000328547:p.Arg380*		30846887	NM_175848	A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Nonsense_Mutation	SNP	ENST00000328111.2	37	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	C	39	7.456173	0.98296	0.0	1.16E-4	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	.	.	.	4.89	3.93	0.45458	.	0.638796	0.16344	N	0.218524	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-10.8964	12.1243	0.53909	0.1872:0.8128:0.0:0.0	.	.	.	.	X	380;446;360;360;318;284;360;372	.	ENSP00000201963:R372X	R	+	1	2	DNMT3B	30846887	0.058000	0.20735	0.480000	0.27341	0.943000	0.58893	1.108000	0.31123	1.349000	0.45751	-0.283000	0.09986	CGA		0.552	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892	
ANKEF1	63926	broad.mit.edu	37	20	10033776	10033776	+	Silent	SNP	C	C	T	rs370547870		TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr20:10033776C>T	ENST00000378380.3	+	8	2216	c.1887C>T	c.(1885-1887)gaC>gaT	p.D629D	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Silent_p.D629D|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	629							calcium ion binding (GO:0005509)	p.D629D(1)									GTGCCATGGACGTTGCAAAGG	0.333																																					p.D629D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1887T	20						.	C	,	0,4406		0,0,2203	120.0	132.0	128.0		1887,1887	-0.7	0.6	20		128	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ANKRD5	NM_022096.4,NM_198798.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	629/777,629/777	10033776	1,13005	2203	4300	6503	9981776	SO:0001819	synonymous_variant	63926	exon8			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1887C>T	20.37:g.10033776C>T			9981776	NM_198798	B3KUQ0|Q9H6Y9	Silent	SNP	ENST00000378380.3	37	CCDS13108.1																																																																																				0.333	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096	
APCDD1L	164284	broad.mit.edu	37	20	57036037	57036037	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr20:57036037C>T	ENST00000371149.3	-	4	1545	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N	APCDD1L_ENST00000439429.1_Missense_Mutation_p.D450N|APCDD1L_ENST00000491015.1_5'Flank	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	439						integral component of membrane (GO:0016021)		p.D439N(1)		large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			TCTGGGGTATCGGGACTTGAG	0.612																																					p.D439N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1315A	20						.						104.0	98.0	100.0					20																	57036037		2203	4300	6503	56469443	SO:0001583	missense	164284	exon4			AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.1315G>A	20.37:g.57036037C>T	ENSP00000360191:p.Asp439Asn		56469443	NM_153360		Missense_Mutation	SNP	ENST00000371149.3	37	CCDS13467.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601749	0.46423	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.16597	2.33;2.33	4.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.22898	0.0553	M	0.73217	2.22	0.36149	D	0.847305	D;D	0.55605	0.968;0.972	P;B	0.45276	0.475;0.243	T	0.31475	-0.9942	10	0.41790	T	0.15	.	11.2774	0.49174	0.0:0.9104:0.0:0.0896	.	450;439	F5H6V6;Q8NCL9	.;APCDL_HUMAN	N	439;450	ENSP00000360191:D439N;ENSP00000413261:D450N	ENSP00000360191:D439N	D	-	1	0	APCDD1L	56469443	0.996000	0.38824	0.459000	0.27081	0.217000	0.24651	3.447000	0.52936	1.926000	0.55796	0.460000	0.39030	GAT		0.612	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360	
CECR2	27443	broad.mit.edu	37	22	18028280	18028280	+	Silent	SNP	G	G	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr22:18028280G>A	ENST00000400585.2	+	17	3249	c.2811G>A	c.(2809-2811)ccG>ccA	p.P937P	CECR2_ENST00000262608.8_Silent_p.P1080P|CECR2_ENST00000400573.5_Silent_p.P1079P			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1121					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.P1079P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CAGCGACACCGCCCAGCACAG	0.597																																					p.R1080H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3239A	22						.						27.0	32.0	31.0					22																	18028280		2172	4263	6435	16408280	SO:0001819	synonymous_variant	27443	exon16			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2811G>A	22.37:g.18028280G>A			16408280	NM_031413	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	ENST00000400585.2	37																																																																																					0.597	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413	
SOX10	6663	broad.mit.edu	37	22	38379424	38379424	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr22:38379424G>A	ENST00000396884.2	-	2	650	c.368C>T	c.(367-369)gCg>gTg	p.A123V	POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron|SOX10_ENST00000470555.1_Intron|SOX10_ENST00000360880.2_Missense_Mutation_p.A123V	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	123					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)	p.A123V(1)		NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GTACTGGTCCGCGAGCTTCCT	0.677																																					p.A123V	Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C368T	22						.						38.0	30.0	32.0					22																	38379424		2203	4300	6503	36709370	SO:0001583	missense	6663	exon2				CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"""SRY (sex determining region Y)-boxes"""	11190	protein-coding gene	gene with protein product	"""dominant megacolon, mouse, human homolog of"""	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.368C>T	22.37:g.38379424G>A	ENSP00000380093:p.Ala123Val		36709370	NM_006941	B4DV62|Q6FHW7	Missense_Mutation	SNP	ENST00000396884.2	37	CCDS13964.1	.	.	.	.	.	.	.	.	.	.	G	31	5.058746	0.93846	.	.	ENSG00000100146	ENST00000396884;ENST00000360880;ENST00000416937;ENST00000427770	D;D;D	0.97941	-4.62;-4.62;-4.62	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.97986	0.9337	L	0.51853	1.615	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.97978	1.0347	9	.	.	.	.	17.1362	0.86740	0.0:0.0:1.0:0.0	.	123	P56693	SOX10_HUMAN	V	123	ENSP00000380093:A123V;ENSP00000354130:A123V;ENSP00000414853:A123V	.	A	-	2	0	SOX10	36709370	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.274000	0.95731	2.265000	0.75225	0.462000	0.41574	GCG		0.677	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313875.1	NM_006941	
TTN	7273	broad.mit.edu	37	2	179408994	179408994	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr2:179408994C>T	ENST00000591111.1	-	295	91263	c.91039G>A	c.(91039-91041)Gtg>Atg	p.V30347M	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V22923M|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V29420M|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V23048M|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V23115M|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V31988M			Q8WZ42	TITIN_HUMAN	titin	30347	Fibronectin type-III 121. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V23115M(1)|p.V29418M(1)|p.V22923M(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)			TTCACGTTCACGGCAGCAACT	0.413																																					p.P22922P												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G68766A	2						.						91.0	86.0	87.0					2																	179408994		1891	4123	6014	179117240	SO:0001583	missense	7273	exon173			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.91039G>A	2.37:g.179408994C>T	ENSP00000465570:p.Val30347Met		179117240	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	13.80	2.345998	0.41599	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72471	0.3464	M	0.71581	2.175	0.48975	D	0.999734	D;D;D;D	0.60575	0.988;0.988;0.988;0.988	P;P;P;P	0.56398	0.797;0.797;0.797;0.797	T	0.74951	-0.3489	9	0.87932	D	0	.	11.7019	0.51575	0.0:0.8958:0.0:0.1042	.	22923;23048;23115;30347	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	29420;22923;23115;23048;22920	ENSP00000343764:V29420M;ENSP00000434586:V22923M;ENSP00000340554:V23115M;ENSP00000352154:V23048M	ENSP00000340554:V23115M	V	-	1	0	TTN	179117240	0.959000	0.32827	1.000000	0.80357	0.837000	0.47467	1.976000	0.40579	2.941000	0.99782	0.655000	0.94253	GTG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179501491	179501491	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr2:179501491C>T	ENST00000591111.1	-	175	36264	c.36040G>A	c.(36040-36042)Gaa>Aaa	p.E12014K	TTN_ENST00000460472.2_Missense_Mutation_p.E4590K|TTN_ENST00000342992.6_Missense_Mutation_p.E11087K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4715K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4782K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E13655K			Q8WZ42	TITIN_HUMAN	titin	12014	Pro-rich.				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.E4590K(1)|p.E4782K(1)|p.E11087K(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)			TTTCTCCTTTCGGCTTCTATT	0.433																																					p.E4590K												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G13768A	2						.						54.0	53.0	53.0					2																	179501491		1870	4100	5970	179209736	SO:0001583	missense	7273	exon53			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.36040G>A	2.37:g.179501491C>T	ENSP00000465570:p.Glu12014Lys		179209736	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	16.10	3.026398	0.54683	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000414766	T;T;T;T	0.66638	-0.22;0.08;0.06;0.05	5.86	5.86	0.93980	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.62109	0.2401	L	0.56769	1.78	0.35320	D	0.784706	P;P;P;P	0.39737	0.685;0.685;0.685;0.685	B;B;B;B	0.25405	0.06;0.06;0.06;0.06	T	0.74805	-0.3540	9	0.87932	D	0	.	20.1996	0.98256	0.0:1.0:0.0:0.0	.	4590;4715;4782;12014	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	11087;4590;4782;4715;4590;959	ENSP00000343764:E11087K;ENSP00000434586:E4590K;ENSP00000340554:E4782K;ENSP00000352154:E4715K	ENSP00000340554:E4782K	E	-	1	0	TTN	179209736	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	3.349000	0.52217	2.776000	0.95493	0.650000	0.86243	GAA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
HECW2	57520	broad.mit.edu	37	2	197298027	197298027	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr2:197298027T>C	ENST00000260983.3	-	2	303	c.121A>G	c.(121-123)Atg>Gtg	p.M41V		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	41					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.M41V(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TGCAGGGTCATGTTCTCTGGC	0.597																																					p.M41V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A121G	2						.						85.0	74.0	78.0					2																	197298027		2203	4300	6503	197006272	SO:0001583	missense	57520	exon2			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.121A>G	2.37:g.197298027T>C	ENSP00000260983:p.Met41Val		197006272	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	T	1.789	-0.479984	0.04383	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.33865	1.39;1.39;1.39	5.27	4.12	0.48240	.	0.105878	0.64402	N	0.000004	T	0.14700	0.0355	N	0.10733	0.035	0.34468	D	0.70253	B	0.02656	0.0	B	0.04013	0.001	T	0.23833	-1.0177	10	0.02654	T	1	.	8.1897	0.31361	0.0:0.1524:0.0:0.8476	.	41	Q9P2P5	HECW2_HUMAN	V	41	ENSP00000260983:M41V;ENSP00000409918:M41V;ENSP00000395770:M41V	ENSP00000260983:M41V	M	-	1	0	HECW2	197006272	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	1.297000	0.33400	1.031000	0.39867	0.459000	0.35465	ATG		0.597	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	
DOCK10	55619	broad.mit.edu	37	2	225659771	225659771	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr2:225659771C>T	ENST00000258390.7	-	45	5046	c.4979G>A	c.(4978-4980)cGt>cAt	p.R1660H	DOCK10_ENST00000409592.3_Missense_Mutation_p.R1654H	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1660					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1658H(1)|p.R198H(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGTCCTTATACGCTTAGTCAG	0.478																																					p.R1660H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4979A	2						.						142.0	143.0	143.0					2																	225659771		2005	4185	6190	225368015	SO:0001583	missense	55619	exon45			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4979G>A	2.37:g.225659771C>T	ENSP00000258390:p.Arg1660His		225368015	NM_014689	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	35	5.577896	0.96565	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.65178	4.66;-0.14	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83603	0.5290	M	0.91090	3.175	0.58432	D	0.999999	D;P;D;D	0.76494	0.972;0.95;0.984;0.999	B;B;P;D	0.64410	0.444;0.439;0.74;0.925	D	0.86564	0.1843	10	0.87932	D	0	.	20.0637	0.97700	0.0:1.0:0.0:0.0	.	1660;514;1654;322	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	H	1654;1660;198	ENSP00000386694:R1654H;ENSP00000258390:R1660H	ENSP00000258390:R1660H	R	-	2	0	DOCK10	225368015	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	7.487000	0.81328	2.751000	0.94390	0.650000	0.86243	CGT		0.478	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		
KIF1A	547	broad.mit.edu	37	2	241710464	241710464	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr2:241710464C>T	ENST00000320389.7	-	14	1396	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	KIF1A_ENST00000498729.2_Missense_Mutation_p.R422H	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	413					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.R413H(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGAGGCCGCGCGGCTGGACAG	0.647																																					p.R413H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1238A	2						.						46.0	59.0	54.0					2																	241710464		2111	4257	6368	241359137	SO:0001583	missense	547	exon14			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1238G>A	2.37:g.241710464C>T	ENSP00000322791:p.Arg413His		241359137	NM_004321	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949679	0.73787	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.73469	-0.6;-0.68;-0.75	4.11	4.11	0.48088	.	0.065014	0.64402	U	0.000005	T	0.78805	0.4341	L	0.31926	0.97	0.80722	D	1	D;D;D	0.89917	0.987;1.0;0.996	P;D;P	0.68039	0.707;0.955;0.687	T	0.79862	-0.1624	10	0.44086	T	0.13	.	16.3652	0.83317	0.0:1.0:0.0:0.0	.	422;422;413	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	H	413;422;422;422	ENSP00000322791:R413H;ENSP00000438388:R422H;ENSP00000384231:R422H	ENSP00000322791:R413H	R	-	2	0	KIF1A	241359137	1.000000	0.71417	0.986000	0.45419	0.760000	0.43138	4.774000	0.62339	1.848000	0.53677	0.555000	0.69702	CGC		0.647	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483	
ABI3BP	25890	broad.mit.edu	37	3	100471737	100471737	+	Silent	SNP	C	C	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr3:100471737C>T	ENST00000284322.5	-	33	2992	c.2883G>A	c.(2881-2883)gaG>gaA	p.E961E	ABI3BP_ENST00000471714.1_Silent_p.E1663E|ABI3BP_ENST00000383691.4_Silent_p.E915E	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	961					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.E915E(1)|p.E962E(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGCCCTTACACTCTGAGTAAG	0.403																																					p.E961E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2883A	3						.						98.0	90.0	92.0					3																	100471737		1853	4097	5950	101954427	SO:0001819	synonymous_variant	25890	exon33			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2883G>A	3.37:g.100471737C>T			101954427	NM_015429	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Silent	SNP	ENST00000284322.5	37	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	C	8.136	0.784200	0.16189	.	.	ENSG00000154175	ENST00000495591	.	.	.	6.02	2.49	0.30216	.	.	.	.	.	T	0.57961	0.2089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51725	-0.8669	4	.	.	.	-23.797	8.8776	0.35354	0.0:0.2136:0.0:0.7864	.	.	.	.	N	1017	.	.	S	-	2	0	ABI3BP	101954427	0.987000	0.35691	1.000000	0.80357	0.992000	0.81027	0.169000	0.16641	0.536000	0.28733	-0.312000	0.09012	AGT		0.403	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1		
COL6A6	131873	broad.mit.edu	37	3	130381087	130381087	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr3:130381087G>A	ENST00000358511.6	+	34	6468	c.6437G>A	c.(6436-6438)cGa>cAa	p.R2146Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R2146Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2146	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R2146Q(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGCTTGGCCGAATTCATAAA	0.443																																					p.R2146Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6437A	3						.						151.0	154.0	153.0					3																	130381087		1931	4138	6069	131863777	SO:0001583	missense	131873	exon34			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.6437G>A	3.37:g.130381087G>A	ENSP00000351310:p.Arg2146Gln		131863777	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026374	0.75390	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.90069	-2.59;-2.61	5.81	5.81	0.92471	von Willebrand factor, type A (2);	.	.	.	.	D	0.95040	0.8394	M	0.82517	2.595	0.36807	D	0.885657	D;D	0.89917	0.999;1.0	D;D	0.77557	0.99;0.988	D	0.95556	0.8625	9	0.49607	T	0.09	.	20.0833	0.97789	0.0:0.0:1.0:0.0	.	2146;2146	A6NMZ7;F8W6Y7	CO6A6_HUMAN;.	Q	2146	ENSP00000351310:R2146Q;ENSP00000399236:R2146Q	ENSP00000351310:R2146Q	R	+	2	0	COL6A6	131863777	0.998000	0.40836	0.996000	0.52242	0.345000	0.29048	3.697000	0.54764	2.756000	0.94617	0.655000	0.94253	CGA		0.443	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
MED12L	116931	broad.mit.edu	37	3	151087334	151087334	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr3:151087334C>A	ENST00000474524.1	+	24	3594	c.3556C>A	c.(3556-3558)Ctt>Att	p.L1186I	MED12L_ENST00000273432.4_Missense_Mutation_p.L1046I|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1186						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.L1186I(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATTATGATGCTTGGTAAGAT	0.378																																					p.L1186I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3556A	3						.						126.0	119.0	121.0					3																	151087334		2203	4300	6503	152570024	SO:0001583	missense	116931	exon24			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.3556C>A	3.37:g.151087334C>A	ENSP00000417235:p.Leu1186Ile		152570024	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896162	0.91962	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.29655	1.56;1.56	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.52549	0.1741	M	0.68317	2.08	0.80722	D	1	P;D;D	0.67145	0.911;0.996;0.993	P;D;D	0.72625	0.674;0.978;0.967	T	0.53143	-0.8480	10	0.87932	D	0	-18.4374	12.9675	0.58492	0.0:0.9258:0.0:0.0742	.	1046;1185;1186	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	I	1186;1046	ENSP00000417235:L1186I;ENSP00000273432:L1046I	ENSP00000273432:L1046I	L	+	1	0	MED12L	152570024	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.311000	0.43717	2.746000	0.94184	0.591000	0.81541	CTT		0.378	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	
SCN5A	6331	broad.mit.edu	37	3	38592932	38592932	+	Missense_Mutation	SNP	C	C	T	rs28937316		TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr3:38592932C>T	ENST00000333535.4	-	28	5080	c.4931G>A	c.(4930-4932)cGc>cAc	p.R1644H	SCN5A_ENST00000449557.2_Missense_Mutation_p.R1590H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1590H|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1644H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1643H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1611H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1643H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1626H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1590H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1626H|SCN5A_ENST00000464652.1_5'Flank			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1644			R -> C (in LQT3 and BRGDA1).|R -> H (in LQT3; dbSNP:rs28937316). {ECO:0000269|PubMed:10973849, ECO:0000269|PubMed:15840476}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.R1644H(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GAGCAGCGTGCGGATCCCCTT	0.582																																					p.R1626H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4877A	3	GRCh37	CM951143	SCN5A	M	rs28937316	.						130.0	129.0	129.0					3																	38592932		2203	4300	6503	38567936	SO:0001583	missense	6331	exon27			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4931G>A	3.37:g.38592932C>T	ENSP00000328968:p.Arg1644His		38567936	NM_001099405	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576814	0.86645	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98889	-5.21;-5.21;-5.21;-5.21;-5.21;-5.21;-5.21;-5.21;-5.21;-5.21	4.54	4.54	0.55810	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99408	0.9791	H	0.95611	3.695	0.58432	A	0.999998	D;D;D;D;D;P	0.89917	1.0;1.0;1.0;0.995;1.0;0.781	D;D;D;P;D;B	0.91635	0.995;0.998;0.999;0.841;0.998;0.214	D	0.98389	1.0562	9	0.87932	D	0	.	17.4903	0.87701	0.0:1.0:0.0:0.0	rs28937316	1590;1611;1626;1644;1643;1644	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	H	1626;1643;1644;1590;1643;1626;1644;1611;1590;1590	ENSP00000398962:R1626H;ENSP00000398266:R1643H;ENSP00000410257:R1644H;ENSP00000388797:R1590H;ENSP00000397915:R1643H;ENSP00000416634:R1626H;ENSP00000328968:R1644H;ENSP00000399524:R1611H;ENSP00000403355:R1590H;ENSP00000413996:R1590H	ENSP00000328968:R1644H	R	-	2	0	SCN5A	38567936	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.639000	0.83342	2.353000	0.79882	0.561000	0.74099	CGC		0.582	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
TGM4	7047	broad.mit.edu	37	3	44952815	44952815	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr3:44952815G>T	ENST00000296125.4	+	13	1898	c.1830G>T	c.(1828-1830)aaG>aaT	p.K610N		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	610					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.K610N(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GTATCTTCAAGAATACCCTGG	0.507																																					p.K610N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1830T	3						.						182.0	165.0	171.0					3																	44952815		2203	4300	6503	44927819	SO:0001583	missense	7047	exon13			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1830G>T	3.37:g.44952815G>T	ENSP00000296125:p.Lys610Asn		44927819	NM_003241	Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892676	0.33442	.	.	ENSG00000163810	ENST00000296125	T	0.70399	-0.48	2.72	1.82	0.25136	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.285320	0.22331	U	0.061471	T	0.59004	0.2162	L	0.38175	1.15	0.28698	N	0.904207	B	0.22211	0.066	B	0.29077	0.098	T	0.52381	-0.8583	10	0.36615	T	0.2	.	9.4344	0.38630	0.1117:0.0:0.8883:0.0	.	610	P49221	TGM4_HUMAN	N	610	ENSP00000296125:K610N	ENSP00000296125:K610N	K	+	3	2	TGM4	44927819	0.999000	0.42202	0.002000	0.10522	0.002000	0.02628	1.416000	0.34759	0.237000	0.21200	0.563000	0.77884	AAG		0.507	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241	
MITF	4286	broad.mit.edu	37	3	70014171	70014171	+	Silent	SNP	G	G	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr3:70014171G>A	ENST00000448226.2	+	10	1480	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	MITF_ENST00000314589.5_Silent_p.T429T|MITF_ENST00000394351.3_Silent_p.T344T|MITF_ENST00000531774.1_Silent_p.T282T|MITF_ENST00000472437.1_Silent_p.T393T|MITF_ENST00000394355.2_Silent_p.T420T|MITF_ENST00000352241.4_Silent_p.T445T|MITF_ENST00000314557.6_Silent_p.T338T|MITF_ENST00000328528.6_Silent_p.T444T			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	451					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)	p.T344T(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TCGATCTCACGGATGGCACCA	0.498			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														p.T338T	Melanoma(29;269 969 31479 41502 42961)		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1014A	3						.						179.0	143.0	155.0					3																	70014171		2203	4300	6503	70096861	SO:0001819	synonymous_variant	4286	exon9				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.1353G>A	3.37:g.70014171G>A			70096861	NM_198158	B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Silent	SNP	ENST00000448226.2	37																																																																																					0.498	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159	
CLCN2	1181	broad.mit.edu	37	3	184064546	184064546	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr3:184064546T>C	ENST00000265593.4	-	24	2716	c.2545A>G	c.(2545-2547)Aaa>Gaa	p.K849E	CLCN2_ENST00000457512.1_Missense_Mutation_p.K820E|CLCN2_ENST00000344937.7_Missense_Mutation_p.K832E|CLCN2_ENST00000423355.2_3'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.K805E	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	849	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)	p.K849E(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GGCCGGACTTTCACACCCTGT	0.637																																					p.K849E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2545G	3						.						50.0	50.0	50.0					3																	184064546		2203	4300	6503	185547240	SO:0001583	missense	1181	exon24			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.2545A>G	3.37:g.184064546T>C	ENSP00000265593:p.Lys849Glu		185547240	NM_004366	B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	t	27.0	4.793356	0.90453	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.88046	-1.94;-1.89;-1.98;-2.33	5.51	5.51	0.81932	Cystathionine beta-synthase, core (1);	0.000000	0.85682	D	0.000000	D	0.88526	0.6460	N	0.25647	0.755	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.998	D;D;D;D;D	0.85130	0.997;0.997;0.962;0.997;0.917	D	0.86160	0.1593	10	0.20519	T	0.43	-12.546	15.6239	0.76833	0.0:0.0:0.0:1.0	.	805;820;832;849;805	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	E	849;832;805;820	ENSP00000265593:K849E;ENSP00000345056:K832E;ENSP00000400425:K805E;ENSP00000391928:K820E	ENSP00000265593:K849E	K	-	1	0	CLCN2	185547240	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.084000	0.71335	2.105000	0.64084	0.533000	0.62120	AAA		0.637	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1		
POLR2B	5431	broad.mit.edu	37	4	57873104	57873104	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr4:57873104C>T	ENST00000381227.1	+	11	1753	c.1340C>T	c.(1339-1341)tCt>tTt	p.S447F	POLR2B_ENST00000431623.2_Missense_Mutation_p.S372F|POLR2B_ENST00000441246.2_Missense_Mutation_p.S440F|POLR2B_ENST00000314595.5_Missense_Mutation_p.S447F			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	447					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.S447F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CTAAAATACTCTTTAGCTACT	0.413																																					p.S447F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1340T	4						.						84.0	90.0	88.0					4																	57873104		2203	4300	6503	57567861	SO:0001583	missense	5431	exon10				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1340C>T	4.37:g.57873104C>T	ENSP00000370625:p.Ser447Phe		57567861	NM_000938	A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873817	0.91664	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.2	5.2	0.72013	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.82467	0.5043	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86752	0.1961	10	0.87932	D	0	.	19.098	0.93260	0.0:1.0:0.0:0.0	.	372;447	C9J4M6;P30876	.;RPB2_HUMAN	F	447;372;440;447	ENSP00000370625:S447F;ENSP00000391096:S372F;ENSP00000391452:S440F;ENSP00000312735:S447F	ENSP00000312735:S447F	S	+	2	0	POLR2B	57567861	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	7.658000	0.83755	2.600000	0.87896	0.655000	0.94253	TCT		0.413	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938	
INPP4B	8821	broad.mit.edu	37	4	143044560	143044560	+	Silent	SNP	T	T	C			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr4:143044560T>C	ENST00000513000.1	-	21	2335	c.1902A>G	c.(1900-1902)ggA>ggG	p.G634G	INPP4B_ENST00000508116.1_Silent_p.G634G|INPP4B_ENST00000509777.1_Silent_p.G634G|INPP4B_ENST00000308502.4_Silent_p.G634G|INPP4B_ENST00000262992.4_Silent_p.G634G	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	634					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.G634G(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CACAAACCAATCCAGCAAGCT	0.358																																					p.G634G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1902G	4						.						75.0	72.0	73.0					4																	143044560		2203	4300	6503	143264010	SO:0001819	synonymous_variant	8821	exon21			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1902A>G	4.37:g.143044560T>C			143264010	NM_003866	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Silent	SNP	ENST00000513000.1	37	CCDS3757.1																																																																																				0.358	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866	
SLC12A2	6558	broad.mit.edu	37	5	127471439	127471439	+	Silent	SNP	C	C	T	rs377735249		TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr5:127471439C>T	ENST00000262461.2	+	7	1536	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	SLC12A2_ENST00000343225.4_Silent_p.F449F	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	449					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)	p.F449F(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	TTGGTGATTTCGTCATAGGAA	0.308																																					p.F449F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1347T	5						.	C		2,4404	4.2+/-10.8	0,2,2201	124.0	125.0	125.0		1347	3.8	1.0	5		125	0,8600		0,0,4300	no	coding-synonymous	SLC12A2	NM_001046.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		449/1213	127471439	2,13004	2203	4300	6503	127499338	SO:0001819	synonymous_variant	6558	exon7				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.1347C>T	5.37:g.127471439C>T			127499338	NM_001046	Q8N713|Q8WWH7	Silent	SNP	ENST00000262461.2	37	CCDS4144.1																																																																																				0.308	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046	
FSTL4	23105	broad.mit.edu	37	5	132553003	132553003	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr5:132553003A>G	ENST00000265342.7	-	13	1775	c.1526T>C	c.(1525-1527)gTc>gCc	p.V509A	CTB-49A3.2_ENST00000502776.1_RNA|CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	509						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.V509A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCGGTTCCGGACATTGACTGC	0.488																																					p.V509A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1526C	5						.						120.0	115.0	117.0					5																	132553003		2203	4300	6503	132580902	SO:0001583	missense	23105	exon13			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1526T>C	5.37:g.132553003A>G	ENSP00000265342:p.Val509Ala		132580902	NM_015082	Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.447426	0.63178	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.33216	1.42	5.22	5.22	0.72569	WD40/YVTN repeat-like-containing domain (1);	0.177135	0.49305	D	0.000155	T	0.51958	0.1705	M	0.80183	2.485	0.51482	D	0.999927	P;D	0.61697	0.943;0.99	P;P	0.56648	0.459;0.803	T	0.59500	-0.7443	10	0.72032	D	0.01	-32.3894	14.5652	0.68171	1.0:0.0:0.0:0.0	.	509;158	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	A	509;340	ENSP00000265342:V509A	ENSP00000265342:V509A	V	-	2	0	FSTL4	132580902	1.000000	0.71417	0.989000	0.46669	0.563000	0.35712	8.776000	0.91776	2.094000	0.63399	0.533000	0.62120	GTC		0.488	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786	
MAP1B	4131	broad.mit.edu	37	5	71493807	71493807	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr5:71493807C>T	ENST00000296755.7	+	5	4923	c.4625C>T	c.(4624-4626)aCg>aTg	p.T1542M		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1542					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.T1542M(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GCAGAAGACACGTACTCTCAT	0.478																																					p.T1542M	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4625T	5						.						123.0	106.0	112.0					5																	71493807		2203	4300	6503	71529563	SO:0001583	missense	4131	exon5			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4625C>T	5.37:g.71493807C>T	ENSP00000296755:p.Thr1542Met		71529563	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.230381	0.39399	.	.	ENSG00000131711	ENST00000296755	T	0.03801	3.8	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000004	T	0.14356	0.0347	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.02632	-1.1131	10	0.72032	D	0.01	-16.6237	18.7095	0.91651	0.0:1.0:0.0:0.0	.	1416;1542	A2BDK6;P46821	.;MAP1B_HUMAN	M	1542	ENSP00000296755:T1542M	ENSP00000296755:T1542M	T	+	2	0	MAP1B	71529563	1.000000	0.71417	0.992000	0.48379	0.487000	0.33371	6.056000	0.71111	2.435000	0.82474	0.313000	0.20887	ACG		0.478	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
SLIT3	6586	broad.mit.edu	37	5	168180894	168180894	+	Missense_Mutation	SNP	G	G	A	rs577365804		TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr5:168180894G>A	ENST00000519560.1	-	17	2223	c.1804C>T	c.(1804-1806)Cgt>Tgt	p.R602C	SLIT3_ENST00000332966.8_Missense_Mutation_p.R602C|SLIT3_ENST00000404867.3_Missense_Mutation_p.R602C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	602					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.R602C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGAGGCCACGGAACACGCGC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		19418	0.001		0.0	False		,,,				2504	0.0				p.R602C	Ovarian(29;311 847 10864 17279 24903)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1804T	5						.						52.0	50.0	51.0					5																	168180894		2203	4300	6503	168113472	SO:0001583	missense	6586	exon17			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1804C>T	5.37:g.168180894G>A	ENSP00000430333:p.Arg602Cys		168113472	NM_003062	A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010368	0.75046	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.79653	-1.29;-1.29;-1.29	5.27	5.27	0.74061	.	0.141277	0.64402	D	0.000009	D	0.84424	0.5469	L	0.42744	1.35	0.58432	D	0.999999	D	0.76494	0.999	D	0.67725	0.953	D	0.85578	0.1238	10	0.87932	D	0	.	12.1672	0.54138	0.0:0.0:0.7098:0.2902	.	602	O75094	SLIT3_HUMAN	C	602	ENSP00000430333:R602C;ENSP00000332164:R602C;ENSP00000384890:R602C	ENSP00000332164:R602C	R	-	1	0	SLIT3	168113472	1.000000	0.71417	0.997000	0.53966	0.757000	0.42996	4.043000	0.57354	2.491000	0.84063	0.650000	0.86243	CGT		0.632	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	
Unknown	0	broad.mit.edu	37	6	29855864	29855865	+	IGR	INS	-	-	T	rs201660016|rs9280745	byFrequency	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr6:29855864_29855865insT								HLA-G (56962 upstream) : HLA-A (53171 downstream)														p.E71fs*30(1)									AGTCCGAGAGAGGAGCCGCGGG	0.668													-|-|T|insertion	1569	0.313299	0.261	0.3948	5008	,	,		10396	0.378		0.3201	False		,,,				2504	0.2526				.												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	.	6						.																																			29963844	SO:0001628	intergenic_variant	3136	.																															6.37:g.29855864_29855865insT			29963843	.		Frame_Shift_Ins	INS		37																																																																																				0	0.668								
LRFN2	57497	broad.mit.edu	37	6	40360417	40360417	+	Silent	SNP	C	C	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr6:40360417C>T	ENST00000338305.6	-	3	2177	c.1635G>A	c.(1633-1635)acG>acA	p.T545T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	545						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.T545T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGACCAGCAGCGTGGCCACGA	0.597																																					p.T545T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1635A	6						.						84.0	63.0	70.0					6																	40360417		2203	4300	6503	40468395	SO:0001819	synonymous_variant	57497	exon3			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1635G>A	6.37:g.40360417C>T			40468395	NM_020737	A5PKU3|Q5SYP9	Silent	SNP	ENST00000338305.6	37	CCDS34443.1																																																																																				0.597	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372	
TFAP2D	83741	broad.mit.edu	37	6	50683312	50683312	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr6:50683312G>T	ENST00000008391.3	+	2	751	c.523G>T	c.(523-525)Gca>Tca	p.A175S		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.A175S(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CGCCGCGGGAGCAGACGACTT	0.607																																					p.A175S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G523T	6						.						46.0	54.0	51.0					6																	50683312		2130	4164	6294	50791271	SO:0001583	missense	83741	exon2			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.523G>T	6.37:g.50683312G>T	ENSP00000008391:p.Ala175Ser		50791271	NM_172238		Missense_Mutation	SNP	ENST00000008391.3	37	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	G	8.523	0.869141	0.17322	.	.	ENSG00000008197	ENST00000008391	D	0.97161	-4.27	5.06	5.06	0.68205	.	0.238293	0.42548	N	0.000700	D	0.87176	0.6112	N	0.08118	0	0.48975	D	0.999734	B	0.02656	0.0	B	0.04013	0.001	D	0.84121	0.0406	10	0.09084	T	0.74	-8.8929	18.8042	0.92030	0.0:0.0:1.0:0.0	.	175	Q7Z6R9	AP2D_HUMAN	S	175	ENSP00000008391:A175S	ENSP00000008391:A175S	A	+	1	0	TFAP2D	50791271	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.264000	0.65513	2.509000	0.84616	0.655000	0.94253	GCA		0.607	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238	
ANKRD6	22881	broad.mit.edu	37	6	90337365	90337365	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr6:90337365C>T	ENST00000522441.1	+	14	2076	c.1435C>T	c.(1435-1437)Cgc>Tgc	p.R479C	ANKRD6_ENST00000369408.5_Missense_Mutation_p.R444C|ANKRD6_ENST00000520793.1_Missense_Mutation_p.R420C|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R479C|ANKRD6_ENST00000339746.4_Missense_Mutation_p.R479C	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	479					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R479C(2)		NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GTGCCTGAACCGCCTGCAACA	0.512																																					p.R479C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1435T	6						.						78.0	87.0	84.0					6																	90337365		2047	4212	6259	90394086	SO:0001583	missense	22881	exon14			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.1435C>T	6.37:g.90337365C>T	ENSP00000430985:p.Arg479Cys		90394086	NM_014942	B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	CCDS56441.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.06|19.06	3.753786|3.753786	0.69648|0.69648	.|.	.|.	ENSG00000135299|ENSG00000135299	ENST00000492158|ENST00000369408;ENST00000339746;ENST00000447838;ENST00000522441;ENST00000518150;ENST00000520793;ENST00000521004	.|T;T;T;T;T	.|0.80393	.|0.33;0.14;0.12;0.14;-1.37	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.000000	.|0.56097	.|D	.|0.000039	D|D	0.87382|0.87382	0.6163|0.6163	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.988;0.998;0.999;0.98	D|D	0.88178|0.88178	0.2869|0.2869	5|10	.|0.87932	.|D	.|0	-18.8383|-18.8383	19.3118|19.3118	0.94189|0.94189	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|420;479;444;479	.|B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.|.;ANKR6_HUMAN;.;.	L|C	52|444;479;479;479;220;420;34	.|ENSP00000358416:R444C;ENSP00000345767:R479C;ENSP00000396771:R479C;ENSP00000430985:R479C;ENSP00000429782:R420C	.|ENSP00000345767:R479C	P|R	+|+	2|1	0|0	ANKRD6|ANKRD6	90394086|90394086	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.423000|0.423000	0.31445|0.31445	5.104000|5.104000	0.64584|0.64584	2.558000|2.558000	0.86282|0.86282	0.563000|0.563000	0.77884|0.77884	CCG|CGC		0.512	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1		
CARD11	84433	broad.mit.edu	37	7	2963932	2963932	+	Silent	SNP	G	G	A	rs138416850		TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr7:2963932G>A	ENST00000396946.4	-	15	2278	c.1875C>T	c.(1873-1875)tcC>tcT	p.S625S		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	625					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.S618S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCAGGCCCTCGGATTGGTGGG	0.602			Mis		DLBCL																																p.S625S			Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1875T	7						.						79.0	66.0	71.0					7																	2963932		2203	4300	6503	2930458	SO:0001819	synonymous_variant	84433	exon15			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1875C>T	7.37:g.2963932G>A			2930458	NM_032415	A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	CCDS5336.2																																																																																				0.602	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415	
GCK	2645	broad.mit.edu	37	7	44189372	44189372	+	Silent	SNP	G	G	A	rs193922318		TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr7:44189372G>A	ENST00000403799.3	-	6	1135	c.666C>T	c.(664-666)gtC>gtT	p.V222V	GCK_ENST00000437084.1_Silent_p.V205V|GCK_ENST00000345378.2_Silent_p.V223V|GCK_ENST00000395796.3_Silent_p.V221V	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	222	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)	p.V223V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CGATCATGCCGACCTCGCACT	0.577																																					p.V222V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C666T	7						.	G	,,	0,4406		0,0,2203	145.0	121.0	129.0		666,669,663	-0.0	1.0	7		129	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	GCK	NM_000162.3,NM_033507.1,NM_033508.1	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	222/466,223/467,221/465	44189372	2,13004	2203	4300	6503	44155897	SO:0001819	synonymous_variant	2645	exon6			AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.666C>T	7.37:g.44189372G>A			44155897	NM_000162	A4D2J2|A4D2J3|Q05810	Silent	SNP	ENST00000403799.3	37	CCDS5479.1																																																																																				0.577	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2		
PTN	5764	broad.mit.edu	37	7	136938340	136938340	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr7:136938340C>A	ENST00000348225.2	-	3	587	c.160G>T	c.(160-162)Gtg>Ttg	p.V54L	PTN_ENST00000393083.2_Missense_Mutation_p.V54L	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	54					bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)	p.V54L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						GGCACACACACACTCCACTGC	0.483																																					p.V54L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G160T	7						.						85.0	75.0	78.0					7																	136938340		2203	4300	6503	136588880	SO:0001583	missense	5764	exon3			M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"""Endogenous ligands"""	9630	protein-coding gene	gene with protein product	"""heparin binding growth factor 8"""	162095	"""neurite growth-promoting factor 1"""	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.160G>T	7.37:g.136938340C>A	ENSP00000341170:p.Val54Leu		136588880	NM_002825	Q5U0B0|Q6ICQ5|Q9UCC6	Missense_Mutation	SNP	ENST00000348225.2	37	CCDS5844.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598018	0.87055	.	.	ENSG00000105894	ENST00000348225;ENST00000393083	.	.	.	5.66	4.77	0.60923	Midkine heparin-binding growth factor, N-terminal (3);Midkine heparin-binding growth factor, conserved site (1);Midkine heparin-binding growth factor, disulphide-rich domain (1);	0.231871	0.43919	D	0.000517	T	0.62636	0.2444	L	0.36672	1.1	0.50039	D	0.999841	P;D	0.53312	0.906;0.959	P;P	0.57679	0.76;0.825	T	0.60855	-0.7180	9	0.33940	T	0.23	-16.5775	15.9634	0.79948	0.136:0.864:0.0:0.0	.	54;54	C9JR52;P21246	.;PTN_HUMAN	L	54	.	ENSP00000341170:V54L	V	-	1	0	PTN	136588880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.613000	0.82986	1.363000	0.46019	0.591000	0.81541	GTG		0.483	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1	NM_002825	
BMP1	649	broad.mit.edu	37	8	22021059	22021060	+	5'Flank	INS	-	-	GT	rs149538549		TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr8:22021059_22021060insGT	ENST00000306385.5	+	0	0				BMP1_ENST00000397816.3_5'Flank|SFTPC_ENST00000437090.2_Splice_Site_p.H146fs|BMP1_ENST00000306349.8_5'Flank|BMP1_ENST00000397814.3_5'Flank|SFTPC_ENST00000524255.1_Splice_Site_p.M93fs|SFTPC_ENST00000520605.1_Splice_Site_p.G93fs|BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000522109.1_Frame_Shift_Ins_p.V146fs|SFTPC_ENST00000521315.1_Splice_Site_p.A146fs|SFTPC_ENST00000318561.3_Splice_Site_p.M146fs	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.M146fs*41(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACAACTTCCAGGTGTGTGTGTG	0.545																																					p.Q145fs												.	.	1	Unknown(1)	large_intestine(1)	c.435_436insGT	8	GRCh37	CS014615|CS022505	SFTPC	S	rs149538549	.																																			22077005	SO:0001631	upstream_gene_variant	6440	exon4				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22021068_22021069dupGT	Exception_encountered		22077004	NM_003018	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Splice_Site	INS	ENST00000306385.5	37	CCDS6026.1																																																																																				0.545	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132	
DLC1	10395	broad.mit.edu	37	8	12957933	12957933	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr8:12957933C>A	ENST00000276297.4	-	9	2322	c.1913G>T	c.(1912-1914)gGc>gTc	p.G638V	DLC1_ENST00000520226.1_Missense_Mutation_p.G127V|DLC1_ENST00000512044.2_Missense_Mutation_p.G235V|DLC1_ENST00000358919.2_Missense_Mutation_p.G201V	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	638					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.G638V(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGGCAGGCTGCCGAAAGAGTC	0.592																																					p.G638V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1913T	8						.						82.0	80.0	81.0					8																	12957933		2203	4300	6503	13002304	SO:0001583	missense	10395	exon9			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1913G>T	8.37:g.12957933C>A	ENSP00000276297:p.Gly638Val		13002304	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852037	0.32699	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.05855	3.64;3.39;3.38;3.38	4.42	3.52	0.40303	.	0.851928	0.10993	N	0.611341	T	0.05686	0.0149	N	0.11927	0.2	0.80722	D	1	B;B;B	0.17667	0.02;0.002;0.023	B;B;B	0.21151	0.01;0.011;0.033	T	0.38993	-0.9635	10	0.62326	D	0.03	.	15.0232	0.71647	0.0:0.8514:0.1486:0.0	.	638;235;201	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	V	638;201;235;127	ENSP00000276297:G638V;ENSP00000351797:G201V;ENSP00000422595:G235V;ENSP00000428028:G127V	ENSP00000276297:G638V	G	-	2	0	DLC1	13002304	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.343000	0.52167	1.408000	0.46895	0.655000	0.94253	GGC		0.592	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
LOXL2	4017	broad.mit.edu	37	8	23225654	23225654	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr8:23225654G>A	ENST00000389131.3	-	2	580	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	71	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)	p.R71W(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		ACCTCCACCCGGCCCTCGCTG	0.657																																					p.R71W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C211T	8						.						79.0	65.0	69.0					8																	23225654		2203	4300	6503	23281599	SO:0001583	missense	4017	exon2			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.211C>T	8.37:g.23225654G>A	ENSP00000373783:p.Arg71Trp		23281599	NM_002318	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602189	0.87055	.	.	ENSG00000134013	ENST00000389131;ENST00000524144;ENST00000520871;ENST00000518083;ENST00000524168;ENST00000519243	T;T;T;T;T;T	0.41758	1.26;1.26;1.26;1.26;0.99;0.99	5.5	4.61	0.57282	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.76399	0.3982	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85401	0.1131	10	0.87932	D	0	.	14.5748	0.68238	0.0:0.0:0.8524:0.1476	.	71	Q9Y4K0	LOXL2_HUMAN	W	71;152;112;71;71;71	ENSP00000373783:R71W;ENSP00000427883:R152W;ENSP00000429778:R112W;ENSP00000430519:R71W;ENSP00000428497:R71W;ENSP00000428933:R71W	ENSP00000373783:R71W	R	-	1	2	LOXL2	23281599	1.000000	0.71417	0.996000	0.52242	0.778000	0.44026	6.384000	0.73177	1.408000	0.46895	0.563000	0.77884	CGG		0.657	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1		
RGS20	8601	broad.mit.edu	37	8	54852163	54852163	+	Missense_Mutation	SNP	C	C	T	rs200019464	byFrequency	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr8:54852163C>T	ENST00000297313.3	+	3	630	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	RGS20_ENST00000276500.4_Missense_Mutation_p.R33W|RGS20_ENST00000344277.6_Missense_Mutation_p.R65W|RGS20_ENST00000522225.1_Intron	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	180					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.R180W(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GATGGAGATGCGGAAGCGGCA	0.672																																					p.R180W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C538T	8						.						15.0	20.0	19.0					8																	54852163		2198	4299	6497	55014716	SO:0001583	missense	8601	exon3			AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"""Regulators of G-protein signaling"""	14600	protein-coding gene	gene with protein product		607193	"""regulator of G-protein signalling 20"""			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.538C>T	8.37:g.54852163C>T	ENSP00000297313:p.Arg180Trp		55014716	NM_170587	Q96BG9	Missense_Mutation	SNP	ENST00000297313.3	37	CCDS6155.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529188	0.85706	.	.	ENSG00000147509	ENST00000297313;ENST00000344277;ENST00000276500	T;T;T	0.48522	0.82;0.85;0.81	4.89	4.89	0.63831	.	31.918700	0.00166	N	0.000000	T	0.76147	0.3947	M	0.77103	2.36	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.58346	-0.7652	10	0.87932	D	0	.	17.1905	0.86878	0.0:1.0:0.0:0.0	.	33;65;180	O76081-6;O76081-2;O76081	.;.;RGS20_HUMAN	W	180;65;33	ENSP00000297313:R180W;ENSP00000344630:R65W;ENSP00000276500:R33W	ENSP00000276500:R33W	R	+	1	2	RGS20	55014716	1.000000	0.71417	0.987000	0.45799	0.478000	0.33099	4.416000	0.59815	2.418000	0.82041	0.650000	0.86243	CGG		0.672	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1		
ORM2	5005	broad.mit.edu	37	9	117093887	117093887	+	Silent	SNP	G	G	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr9:117093887G>A	ENST00000431067.2	+	4	405	c.369G>A	c.(367-369)agG>agA	p.R123R	ORM2_ENST00000412657.1_3'UTR	NM_000608.2	NP_000599.1	P19652	A1AG2_HUMAN	orosomucoid 2	123					acute-phase response (GO:0006953)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R123R(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)			Chlorpromazine(DB00477)|Oxycodone(DB00497)|Thalidomide(DB01041)	TGTTCCTTAGGGACACCAAGA	0.522																																					p.R123R	NSCLC(65;867 1308 1814 2391 12508)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G369A	9						.						171.0	147.0	155.0					9																	117093887		2203	4300	6503	116133708	SO:0001819	synonymous_variant	5005	exon4				CCDS6804.1	9q32	2013-09-19			ENSG00000228278	ENSG00000228278		"""Lipocalins"""	8499	protein-coding gene	gene with protein product	"""alpha-1-acid glycoprotein, type 2"""	138610				4711474, 2970990	Standard	NM_000608		Approved	AGP-B, AGP-B', AGP2		P19652	OTTHUMG00000021014	ENST00000431067.2:c.369G>A	9.37:g.117093887G>A			116133708	NM_000608	B2R5L2|Q16571|Q5T538|Q6IB74	Silent	SNP	ENST00000431067.2	37	CCDS6804.1																																																																																				0.522	ORM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055432.1	NM_000608	
BNC2	54796	broad.mit.edu	37	9	16437028	16437028	+	Silent	SNP	G	G	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr9:16437028G>T	ENST00000380672.4	-	6	1221	c.1164C>A	c.(1162-1164)acC>acA	p.T388T	BNC2_ENST00000380667.2_Silent_p.T321T|BNC2_ENST00000380666.2_Silent_p.T388T|BNC2_ENST00000545497.1_Silent_p.T293T	NM_017637.5	NP_060107.3			basonuclin 2									p.T388T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TAGTAATGCTGGTCAGGGCAT	0.448																																					p.T388T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1164A	9						.						103.0	107.0	105.0					9																	16437028		2203	4300	6503	16427028	SO:0001819	synonymous_variant	54796	exon6			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1164C>A	9.37:g.16437028G>T			16427028	NM_017637		Silent	SNP	ENST00000380672.4	37	CCDS6482.2																																																																																				0.448	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	
TRPM6	140803	broad.mit.edu	37	9	77411667	77411667	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr9:77411667C>T	ENST00000360774.1	-	18	2618	c.2381G>A	c.(2380-2382)aGt>aAt	p.S794N	TRPM6_ENST00000361255.3_Missense_Mutation_p.S789N|TRPM6_ENST00000449912.2_Missense_Mutation_p.S789N|TRPM6_ENST00000451710.3_Missense_Mutation_p.S794N|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.S794N|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	794					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.S794N(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CACAGAAGCACTTTCTTTGGA	0.378																																					p.S789N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2366A	9						.						126.0	121.0	123.0					9																	77411667		2203	4300	6503	76601487	SO:0001583	missense	140803	exon18			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2381G>A	9.37:g.77411667C>T	ENSP00000354006:p.Ser794Asn		76601487	NM_001177310	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	3.857	-0.030738	0.07543	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.58	-4.86	0.03132	.	1.450640	0.03556	N	0.226261	T	0.43055	0.1230	N	0.17474	0.49	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.10450	0.005;0.002;0.005	T	0.27365	-1.0076	10	0.30078	T	0.28	.	8.622	0.33866	0.1703:0.2147:0.0:0.6151	.	457;794;789	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	N	794;794;789;789;794;457;457	ENSP00000354006:S794N;ENSP00000407341:S794N;ENSP00000396672:S789N;ENSP00000354962:S789N;ENSP00000366060:S794N	ENSP00000309693:S457N	S	-	2	0	TRPM6	76601487	0.000000	0.05858	0.033000	0.17914	0.008000	0.06430	-1.423000	0.02450	-0.582000	0.05929	-0.150000	0.13652	AGT		0.378	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
DAPK1	1612	broad.mit.edu	37	9	90219898	90219898	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr9:90219898G>A	ENST00000408954.3	+	3	427	c.92G>A	c.(91-93)cGt>cAt	p.R31H	DAPK1_ENST00000491893.1_Missense_Mutation_p.R31H|DAPK1_ENST00000469640.2_Missense_Mutation_p.R31H|DAPK1_ENST00000472284.1_Missense_Mutation_p.R31H|DAPK1_ENST00000358077.5_Missense_Mutation_p.R31H	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	31	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R31H(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AAGAAATGCCGTGAGAAAAGC	0.502									Chronic Lymphocytic Leukemia, Familial Clustering of																												p.R31H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G92A	9						.						34.0	35.0	35.0					9																	90219898		2019	4200	6219	89409718	SO:0001583	missense	1612	exon3	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.92G>A	9.37:g.90219898G>A	ENSP00000386135:p.Arg31His		89409718	NM_004938	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198432	0.79015	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.04	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.155687	0.30959	N	0.008523	T	0.49047	0.1534	L	0.31578	0.945	0.80722	D	1	D;D;D	0.89917	1.0;0.991;0.986	D;P;P	0.68621	0.959;0.681;0.567	T	0.48043	-0.9069	10	0.62326	D	0.03	.	11.0484	0.47872	0.0843:0.0:0.9157:0.0	.	31;31;31	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	H	31	ENSP00000350785:R31H;ENSP00000417076:R31H;ENSP00000418885:R31H;ENSP00000386135:R31H;ENSP00000419026:R31H	ENSP00000350785:R31H	R	+	2	0	DAPK1	89409718	1.000000	0.71417	0.989000	0.46669	0.814000	0.46013	7.676000	0.84012	2.628000	0.89032	0.511000	0.50034	CGT		0.502	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938	
AKNA	80709	broad.mit.edu	37	9	117130751	117130751	+	Missense_Mutation	SNP	G	G	A	rs368698649		TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chr9:117130751G>A	ENST00000307564.4	-	5	1702	c.1541C>T	c.(1540-1542)cCg>cTg	p.P514L	AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000312033.3_Missense_Mutation_p.P514L|AKNA_ENST00000374075.5_Missense_Mutation_p.P433L|AKNA_ENST00000374088.3_Missense_Mutation_p.P514L	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	514					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P514L(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GTCCTCGGCCGGGCCCGGCCA	0.662													g|||	1	0.000199681	0.0	0.0	5008	,	,		15805	0.0		0.0	False		,,,				2504	0.001				p.P514L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1541T	9						.	A	LEU/PRO	0,4404		0,0,2202	35.0	33.0	34.0		1541	4.0	0.0	9		34	1,8597		0,1,4298	no	missense	AKNA	NM_030767.4	98	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	514/1440	117130751	1,13001	2202	4299	6501	116170572	SO:0001583	missense	80709	exon5			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1541C>T	9.37:g.117130751G>A	ENSP00000303769:p.Pro514Leu		116170572	NM_030767	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	g	12.50	1.955847	0.34471	0.0	1.16E-4	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000374075;ENST00000312033	T;T;T;T	0.37411	2.41;2.41;2.41;1.2	4.87	3.98	0.46160	.	0.545068	0.16949	N	0.192969	T	0.33206	0.0855	L	0.36672	1.1	0.21256	N	0.999748	D;B	0.58268	0.982;0.023	P;B	0.47102	0.537;0.007	T	0.12604	-1.0541	10	0.66056	D	0.02	-4.1785	9.206	0.37289	0.0978:0.0:0.9022:0.0	.	514;433	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	L	514;355;514;433;514	ENSP00000303769:P514L;ENSP00000363201:P514L;ENSP00000363188:P433L;ENSP00000309222:P514L	ENSP00000303769:P514L	P	-	2	0	AKNA	116170572	0.008000	0.16893	0.003000	0.11579	0.034000	0.12701	1.653000	0.37323	1.291000	0.44653	-0.119000	0.15052	CCG		0.662	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767	
DCX	1641	broad.mit.edu	37	X	110555903	110555903	+	Silent	SNP	C	C	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chrX:110555903C>T	ENST00000338081.3	-	6	1407	c.1236G>A	c.(1234-1236)acG>acA	p.T412T	DCX_ENST00000356220.3_Silent_p.T336T|DCX_ENST00000488120.1_Silent_p.T331T|DCX_ENST00000371993.2_Silent_p.T331T|DCX_ENST00000356915.2_Silent_p.T336T	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	412	Pro/Ser-rich.				axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)	p.T412T(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GACTGGTGGGCGTAGAGATGG	0.488													C|||	1	0.000264901	0.0	0.0	3775	,	,		14186	0.0		0.0	False		,,,				2504	0.001				p.T331T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G993A	X						.						148.0	108.0	122.0					X																	110555903		2203	4300	6503	110442559	SO:0001819	synonymous_variant	1641	exon6			AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.1236G>A	X.37:g.110555903C>T			110442559	NM_178153	A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Silent	SNP	ENST00000338081.3	37	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	C	9.748	1.166571	0.21621	.	.	ENSG00000077279	ENST00000358070	.	.	.	5.63	-0.954	0.10359	.	.	.	.	.	T	0.42743	0.1216	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22871	-1.0204	4	.	.	.	.	3.2802	0.06912	0.0894:0.2858:0.1661:0.4586	.	.	.	.	H	409	.	.	R	-	2	0	DCX	110442559	0.958000	0.32768	0.992000	0.48379	0.991000	0.79684	-0.193000	0.09573	-0.324000	0.08589	-0.192000	0.12808	CGC		0.488	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153	
HTR2C	3358	broad.mit.edu	37	X	114141602	114141602	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chrX:114141602C>A	ENST00000276198.1	+	6	1729	c.1001C>A	c.(1000-1002)tCt>tAt	p.S334Y	HTR2C_ENST00000371951.1_Missense_Mutation_p.S334Y|HTR2C_ENST00000371950.3_3'UTR	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	334					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.S334Y(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AATATTCTGTCTGTTCTTTGT	0.388																																					p.S334Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1001A	X						.						194.0	174.0	181.0					X																	114141602		2203	4300	6503	114047858	SO:0001583	missense	3358	exon6				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.1001C>A	X.37:g.114141602C>A	ENSP00000276198:p.Ser334Tyr		114047858	NM_000868	B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	0.277	-0.989031	0.02162	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.72942	-0.7;-0.7	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.712335	0.13973	N	0.350009	T	0.58807	0.2148	N	0.17838	0.53	0.80722	D	1	B	0.31769	0.339	B	0.39531	0.302	T	0.51466	-0.8702	10	0.02654	T	1	.	15.2701	0.73693	0.0:1.0:0.0:0.0	.	334	P28335	5HT2C_HUMAN	Y	334	ENSP00000276198:S334Y;ENSP00000361019:S334Y	ENSP00000276198:S334Y	S	+	2	0	HTR2C	114047858	0.977000	0.34250	0.989000	0.46669	0.574000	0.36063	2.370000	0.44240	2.285000	0.76669	0.468000	0.43344	TCT		0.388	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868	
LUZP4	51213	broad.mit.edu	37	X	114540855	114540855	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chrX:114540855C>T	ENST00000371920.3	+	4	435	c.428C>T	c.(427-429)cCg>cTg	p.P143L	LUZP4_ENST00000451986.2_Missense_Mutation_p.P61L	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	143						nucleus (GO:0005634)		p.P143L(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GAAGGAAATCCGGACAAATCA	0.468																																					p.P143L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C428T	X						.						84.0	79.0	81.0					X																	114540855		2203	4300	6503	114447111	SO:0001583	missense	51213	exon4			AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.428C>T	X.37:g.114540855C>T	ENSP00000360988:p.Pro143Leu		114447111	NM_016383	B3KSD6	Missense_Mutation	SNP	ENST00000371920.3	37	CCDS14567.1	.	.	.	.	.	.	.	.	.	.	C	0.346	-0.947906	0.02304	.	.	ENSG00000102021	ENST00000451986;ENST00000371920	T;T	0.73363	-0.74;-0.74	1.38	-2.77	0.05877	.	.	.	.	.	T	0.44414	0.1292	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.08055	0.002;0.003	T	0.13388	-1.0511	9	0.19147	T	0.46	.	1.2314	0.01944	0.199:0.3407:0.2952:0.165	.	61;143	B3KSD6;Q9P127	.;LUZP4_HUMAN	L	61;143	ENSP00000411212:P61L;ENSP00000360988:P143L	ENSP00000360988:P143L	P	+	2	0	LUZP4	114447111	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.136000	0.10405	-2.061000	0.00892	-1.552000	0.00895	CCG		0.468	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383	
DCAF12L1	139170	broad.mit.edu	37	X	125686560	125686560	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3986-01A-02W-0995-10	TCGA-AA-3986-10A-01W-0999-10	g.chrX:125686560C>T	ENST00000371126.1	-	1	274	c.32G>A	c.(31-33)cGg>cAg	p.R11Q		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	11								p.R11Q(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GGGCGCTTTCCGTTTCCTGCT	0.726																																					p.R11Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G32A	X						.						17.0	21.0	20.0					X																	125686560		2125	4126	6251	125514241	SO:0001583	missense	139170	exon1			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.32G>A	X.37:g.125686560C>T	ENSP00000360167:p.Arg11Gln		125514241	NM_178470	Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770623	0.69992	.	.	ENSG00000198889	ENST00000371126	T	0.25250	1.81	2.83	-1.61	0.08399	.	.	.	.	.	T	0.31606	0.0802	M	0.67953	2.075	0.09310	N	1	D	0.76494	0.999	P	0.55545	0.778	T	0.15464	-1.0436	9	0.44086	T	0.13	.	1.1065	0.01695	0.3836:0.2957:0.1873:0.1334	.	11	Q5VU92	DC121_HUMAN	Q	11	ENSP00000360167:R11Q	ENSP00000360167:R11Q	R	-	2	0	DCAF12L1	125514241	0.955000	0.32602	0.001000	0.08648	0.257000	0.26127	0.255000	0.18333	-0.565000	0.06061	0.506000	0.49869	CGG		0.726	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470	
