#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
KIAA2026	158358	broad.mit.edu	37	9	6007467	6007468	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AG-A02G-01	TCGA-AG-A02G-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr9:6007467_6007468insC	ENST00000399933.3	-	1	319_320	c.320_321insG	c.(319-321)ggcfs	p.G107fs	KIAA2026_ENST00000381461.2_Frame_Shift_Ins_p.G107fs|MIR4665_ENST00000581132.1_RNA	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	107								p.V108fs*104(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CGGTGGCAACGCCCCCCAAGGG	0.723																																					p.G107fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.321_322insG	9						.																																			5997468	SO:0001589	frameshift_variant	158358	exon1			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.321dupG	9.37:g.6007473_6007473dupC	ENSP00000382815:p.Gly107fs		5997467	NM_001017969	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Frame_Shift_Ins	INS	ENST00000399933.3	37																																																																																					0.723	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969	
CMTM5	116173	broad.mit.edu	37	14	23847968	23847969	+	Frame_Shift_Ins	INS	-	-	C	rs371914875		TCGA-AG-A02G-01	TCGA-AG-A02G-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr14:23847968_23847969insC	ENST00000339180.4	+	3	586_587	c.370_371insC	c.(370-372)accfs	p.T124fs	CMTM5_ENST00000555731.1_Intron|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000382809.2_Intron|CMTM5_ENST00000359320.3_Intron			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	124	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.W128fs*32(1)		endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		GCCTGGCTTGACCCCCCCGGGC	0.639																																					.												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	.	14						.																																			22917809	SO:0001589	frameshift_variant	116173	.			BC013109	CCDS9598.1, CCDS32050.1, CCDS73617.1, CCDS73618.1, CCDS73619.1	14q11.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000166091	ENSG00000166091			19176	protein-coding gene	gene with protein product		607888	"""chemokine-like factor super family 5"", ""chemokine-like factor superfamily 5"""	CKLFSF5			Standard	NM_138460		Approved	FLJ37521	uc001wjs.3	Q96DZ9	OTTHUMG00000028751	ENST00000339180.4:c.377dupC	14.37:g.23847975_23847975dupC	ENSP00000344819:p.Thr124fs		22917808	.	E9PH91|Q5PY48	Frame_Shift_Ins	INS	ENST00000339180.4	37																																																																																					0.639	CMTM5-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000133708.2		
RWDD2B	10069	broad.mit.edu	37	21	30378191	30378192	+	3'UTR	INS	-	-	C	rs386394552|rs112411829|rs1047075|rs76393200	byFrequency	TCGA-AG-A02G-01	TCGA-AG-A02G-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr21:30378191_30378192insC	ENST00000493196.1	-	0	1606_1607				RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B											endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						TCTTGGCCCTTCGTCGTGGTTC	0.475													CCTTCT|C|CC|cryptic_indel	3035	0.60603	0.5212	0.6037	5008	,	,		17345	0.4633		0.7127	False		,,,				2504	0.7597				.												.	.	0			.	21						.																																			29300063	SO:0001624	3_prime_UTR_variant	10069	.			AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 6"""	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.*547->G	21.37:g.30378192_30378192dupC			29300062	.		Splice_Site	INS	ENST00000493196.1	37	CCDS13582.1																																																																																				0.475	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171858.1		
CMTM1	113540	broad.mit.edu	37	16	66601057	66601058	+	Intron	INS	-	-	T	rs377761335|rs201236376|rs58132277	byFrequency	TCGA-AG-A02G-01	TCGA-AG-A02G-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr16:66601057_66601058insT	ENST00000457188.2	+	1	202				CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000528324.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000529506.1_Intron|CMTM1_ENST00000328020.6_Intron|CMTM1_ENST00000379500.2_Intron|CMTM1_ENST00000531885.1_Intron	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1						chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CCTATTTTTTCTTTtttttttt	0.411																																					.												.	.	0			.	16						.																																			65158559	SO:0001627	intron_variant	113540	.			AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"""chemokine-like factor super family 1"", ""chemokine-like factor superfamily 1"""	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.81+560->T	16.37:g.66601068_66601068dupT			65158558	.	Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Frame_Shift_Ins	INS	ENST00000457188.2	37	CCDS45503.1																																																																																				0.411	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999	
ASL	435	broad.mit.edu	37	7	65557632	65557633	+	Missense_Mutation	DNP	AG	AG	CA	rs202182043		TCGA-AG-A02G-01	TCGA-AG-A02G-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr7:65557632_65557633AG>CA	ENST00000304874.9	+	16	1334_1335	c.1232_1233AG>CA	c.(1231-1233)cAG>cCA	p.Q411P	ASL_ENST00000464970.1_3'UTR|AC068533.7_ENST00000450043.1_Missense_Mutation_p.G180R|ASL_ENST00000395332.3_Missense_Mutation_p.Q411P|ASL_ENST00000395331.3_Missense_Mutation_p.Q391P|ASL_ENST00000380839.4_Missense_Mutation_p.Q385P	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	411					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)	p.Q411>?(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CTGTCACTGCAGGAGCTGCAGA	0.673																																					.												.	.	1	Complex(1)	large_intestine(1)	c.1172_1173CA	7						.																																			65195068	SO:0001583	missense	435	exon14				CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	Exception_encountered	7.37:g.65557632_65557633delinsCA	ENSP00000307188:p.Gln411Pro		65195067	NM_001024944	E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	DNP	ENST00000304874.9	37	CCDS5531.1																																																																																				0.673	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048	
AKAP9	10142	broad.mit.edu	37	7	91718761	91718761	+	Silent	SNP	T	T	G			TCGA-AG-A02G-01	TCGA-AG-A02G-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr7:91718761T>G	ENST00000359028.2	+	38	9513	c.9288T>G	c.(9286-9288)tcT>tcG	p.S3096S	AKAP9_ENST00000358100.2_Silent_p.S3042S|AKAP9_ENST00000356239.3_Silent_p.S3092S			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3096					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.S3092S(1)|p.S3096S(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTTTGTTATCTGAAATTCAGG	0.393			T	BRAF	papillary thyroid																																p.S3084S			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T9252G	7						.						122.0	117.0	119.0					7																	91718761		2203	4300	6503	91556697	SO:0001819	synonymous_variant	10142	exon38			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9288T>G	7.37:g.91718761T>G			91556697	NM_147185	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	T	10.07	1.250218	0.22880	.	.	ENSG00000127914	ENST00000435423	.	.	.	4.81	2.17	0.27698	.	.	.	.	.	T	0.52158	0.1717	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44590	-0.9318	4	.	.	.	.	5.0105	0.14310	0.2511:0.0:0.3171:0.4318	.	.	.	.	R	237	.	.	L	+	2	0	AKAP9	91556697	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.393000	0.34497	0.931000	0.37242	0.482000	0.46254	CTG		0.393	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
PTN	5764	broad.mit.edu	37	7	136936069	136936069	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02G-01	TCGA-AG-A02G-01	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Unspecified	454			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr7:136936069C>A	ENST00000348225.2	-	4	786	c.359G>T	c.(358-360)gGa>gTa	p.G120V	PTN_ENST00000393083.2_Missense_Mutation_p.G120V	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	120					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)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						CTTCAGACTTCCAGTTCTGGT	0.532																																					p.G120V												.	.	0			c.G359T	7						.						284.0	259.0	267.0					7																	136936069		2203	4300	6503	136586609	SO:0001583	missense	5764	exon4			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.359G>T	7.37:g.136936069C>A	ENSP00000341170:p.Gly120Val		136586609	NM_002825	Q5U0B0|Q6ICQ5|Q9UCC6	Missense_Mutation	SNP	ENST00000348225.2	37	CCDS5844.1	.	.	.	.	.	.	.	.	.	.	C	34	5.339966	0.95783	.	.	ENSG00000105894	ENST00000348225;ENST00000393083	.	.	.	6.02	6.02	0.97574	Midkine heparin-binding growth factor, C-terminal (2);Midkine heparin-binding growth factor, disulphide-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.80374	0.4611	M	0.69523	2.12	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.97110	1.0;0.903	T	0.80405	-0.1396	9	0.87932	D	0	-13.0664	20.5373	0.99239	0.0:1.0:0.0:0.0	.	120;120	C9JR52;P21246	.;PTN_HUMAN	V	120	.	ENSP00000341170:G120V	G	-	2	0	PTN	136586609	1.000000	0.71417	0.954000	0.39281	0.996000	0.88848	7.818000	0.86416	2.857000	0.98124	0.650000	0.86243	GGA		0.532	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1	NM_002825	
DTD1	92675	broad.mit.edu	37	20	18576871	18576871	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02G-01	TCGA-AG-A02G-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr20:18576871C>T	ENST00000377452.3	+	3	536	c.356C>T	c.(355-357)cCg>cTg	p.P119L	DTD1_ENST00000494921.1_3'UTR	NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	119					D-amino acid catabolic process (GO:0019478)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)	p.P119L(1)		large_intestine(4)|lung(1)|ovary(2)	7						ACATACAGGCCGGAGCTTATC	0.527																																					p.P119L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C356T	20						.						44.0	43.0	43.0					20																	18576871		2203	4300	6503	18524871	SO:0001583	missense	92675	exon3			AF332356	CCDS13138.1	20p11.23	2012-09-25	2012-09-25	2007-02-23	ENSG00000125821	ENSG00000125821			16219	protein-coding gene	gene with protein product		610996	"""chromosome 20 open reading frame 88"", ""D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae)"""	C20orf88, HARS2			Standard	NM_080820		Approved	DUEB, MGC119131, MGC41905, bA379J5.3, bA555E18.1, pqn-68	uc002wrf.4	Q8TEA8	OTTHUMG00000031980	ENST00000377452.3:c.356C>T	20.37:g.18576871C>T	ENSP00000366672:p.Pro119Leu		18524871	NM_080820	A8K5X5|D3DW37|Q496D1|Q5W184|Q8WXU8|Q9BW67|Q9H464|Q9H474	Missense_Mutation	SNP	ENST00000377452.3	37	CCDS13138.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380566	0.61845	.	.	ENSG00000125821	ENST00000377452	.	.	.	5.83	5.83	0.93111	D-Tyr tRNAtyr deacylase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.77961	0.4209	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	T	0.78809	-0.2058	9	0.72032	D	0.01	-9.0054	19.0993	0.93268	0.0:1.0:0.0:0.0	.	119	Q8TEA8	DTD1_HUMAN	L	119	.	ENSP00000366672:P119L	P	+	2	0	DTD1	18524871	1.000000	0.71417	0.971000	0.41717	0.030000	0.12068	7.792000	0.85828	2.741000	0.93983	0.655000	0.94253	CCG		0.527	DTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078189.3	NM_080820	
DNTTIP1	116092	broad.mit.edu	37	20	44424049	44424049	+	Silent	SNP	G	G	A			TCGA-AG-A02G-01	TCGA-AG-A02G-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr20:44424049G>A	ENST00000372622.3	+	4	407	c.339G>A	c.(337-339)ctG>ctA	p.L113L		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	113						nucleolus (GO:0005730)|nucleus (GO:0005634)		p.L113L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				CAGAGCAGCTGATCCAGGAAG	0.562																																					p.L113L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G339A	20						.						48.0	33.0	38.0					20																	44424049		2203	4300	6503	43857456	SO:0001819	synonymous_variant	116092	exon4			AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.339G>A	20.37:g.44424049G>A			43857456	NM_052951	B2RA18|Q96DE3|Q9BQP2|Q9H148	Silent	SNP	ENST00000372622.3	37	CCDS13369.1																																																																																				0.562	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951	
GALNT16	57452	broad.mit.edu	37	14	69814672	69814672	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02G-01	TCGA-AG-A02G-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr14:69814672G>A	ENST00000337827.4	+	14	1819	c.1492G>A	c.(1492-1494)Gga>Aga	p.G498R	GALNT16_ENST00000553669.1_Missense_Mutation_p.G498R|GALNT16_ENST00000448469.3_Missense_Mutation_p.G498R	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	498	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.G498R(1)									GTCCTCCCCTGGATCCCCAGT	0.612																																					p.G498R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1492A	14						.						135.0	105.0	115.0					14																	69814672		2203	4300	6503	68884425	SO:0001583	missense	57452	exon14			AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.1492G>A	14.37:g.69814672G>A	ENSP00000336729:p.Gly498Arg		68884425	NM_020692	Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	37	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613117	0.66672	.	.	ENSG00000100626	ENST00000337827;ENST00000536652;ENST00000448469;ENST00000553669	T;T;T	0.40476	1.03;1.03;1.03	5.76	5.76	0.90799	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	T	0.69214	0.3086	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76071	0.957;0.987	T	0.73560	-0.3944	10	0.87932	D	0	.	17.1265	0.86715	0.0:0.0:1.0:0.0	.	498;498	Q8N428;Q58A55	GLTL1_HUMAN;.	R	498;124;498;498	ENSP00000336729:G498R;ENSP00000402970:G498R;ENSP00000451200:G498R	ENSP00000336729:G498R	G	+	1	0	GALNTL1	68884425	1.000000	0.71417	0.512000	0.27736	0.065000	0.16274	7.536000	0.82023	2.728000	0.93425	0.655000	0.94253	GGA		0.612	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368	
DPF3	8110	broad.mit.edu	37	14	73137953	73137953	+	Intron	SNP	G	G	A			TCGA-AG-A02G-01	TCGA-AG-A02G-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr14:73137953G>A	ENST00000556509.1	-	8	871				DPF3_ENST00000541685.1_Missense_Mutation_p.T322M|DPF3_ENST00000546183.1_Missense_Mutation_p.T332M|DPF3_ENST00000557704.1_5'UTR	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3						chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)	p.T322M(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GAAAGTTGACGTGTCACTTTC	0.577																																					p.T322M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C965T	14						.						82.0	88.0	86.0					14																	73137953		2196	4296	6492	72207706	SO:0001627	intron_variant	8110	exon9			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.871+2994C>T	14.37:g.73137953G>A			72207706	NM_012074	A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	37		.	.	.	.	.	.	.	.	.	.	G	22.5	4.293994	0.81025	.	.	ENSG00000205683	ENST00000541685;ENST00000546183	T;T	0.68479	-0.31;-0.33	5.79	5.79	0.91817	.	.	.	.	.	T	0.69468	0.3114	N	0.19112	0.55	0.34409	D	0.696135	D;D	0.71674	0.998;0.994	P;P	0.58077	0.832;0.738	T	0.77273	-0.2649	9	0.66056	D	0.02	.	20.04	0.97581	0.0:0.0:1.0:0.0	.	332;322	F5H575;Q92784-2	.;.	M	322;332	ENSP00000441640:T322M;ENSP00000444662:T332M	ENSP00000381791:T377M	T	-	2	0	DPF3	72207706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.152000	0.77419	2.733000	0.93635	0.655000	0.94253	ACG		0.577	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2		
PNMAL2	57469	broad.mit.edu	37	19	46997588	46997588	+	Intron	SNP	T	T	G			TCGA-AG-A02G-01	TCGA-AG-A02G-01	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Unspecified	454			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr19:46997588T>G	ENST00000377655.2	-	1	734				PNMAL2_ENST00000599531.1_Missense_Mutation_p.M379L|AC011484.1_ENST00000377652.3_5'Flank|PNMAL2_ENST00000594749.1_Intron			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TCCTTGGACATGACGGACAAG	0.642																																					p.M379L												.	.	0			c.A1135C	19						.						22.0	25.0	24.0					19																	46997588		1957	4113	6070	51689428	SO:0001627	intron_variant	57469	exon1			AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+400A>C	19.37:g.46997588T>G			51689428	NM_020709	C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	ENST00000377655.2	37																																																																																					0.642	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709	
PREX2	80243	broad.mit.edu	37	8	69009298	69009298	+	Silent	SNP	G	G	A			TCGA-AG-A02G-01	TCGA-AG-A02G-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr8:69009298G>A	ENST00000288368.4	+	22	2692	c.2415G>A	c.(2413-2415)aaG>aaA	p.K805K	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	805					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.K805K(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATGGGAAGAAGGAGCATGTGA	0.428																																					p.K805K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2415A	8						.						173.0	152.0	159.0					8																	69009298		2203	4300	6503	69171852	SO:0001819	synonymous_variant	80243	exon22			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2415G>A	8.37:g.69009298G>A			69171852	NM_025170	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	CCDS6201.1																																																																																				0.428	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	
TCHH	7062	broad.mit.edu	37	1	152084663	152084663	+	Missense_Mutation	SNP	C	C	G	rs201434724		TCGA-AG-A02G-01	TCGA-AG-A02G-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr1:152084663C>G	ENST00000368804.1	-	2	1029	c.1030G>C	c.(1030-1032)Gag>Cag	p.E344Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	344	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.E344Q(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cgcctctcctcctgctcgcgc	0.716																																					p.E344Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1030C	1						.						11.0	15.0	14.0					1																	152084663		1908	3961	5869	150351287	SO:0001583	missense	7062	exon2			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1030G>C	1.37:g.152084663C>G	ENSP00000357794:p.Glu344Gln		150351287	NM_007113	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	N	6.972	0.549273	0.13374	.	.	ENSG00000159450	ENST00000368804	T	0.05786	3.39	4.13	-0.118	0.13547	.	.	.	.	.	T	0.00845	0.0028	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.46062	-0.9218	9	0.13853	T	0.58	.	9.5633	0.39383	0.0:0.3175:0.5938:0.0887	.	344	Q07283	TRHY_HUMAN	Q	344	ENSP00000357794:E344Q	ENSP00000357794:E344Q	E	-	1	0	TCHH	150351287	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-0.233000	0.09041	-0.165000	0.10908	-1.996000	0.00446	GAG		0.716	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
CD1C	911	broad.mit.edu	37	1	158262062	158262062	+	Missense_Mutation	SNP	G	G	A	rs146158051		TCGA-AG-A02G-01	TCGA-AG-A02G-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr1:158262062G>A	ENST00000368170.3	+	3	796	c.517G>A	c.(517-519)Gtc>Atc	p.V173I		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	173					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)	p.V173I(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTATGAAGGCGTCACAGAAAC	0.458																																					p.V173I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G517A	1						.	G	ILE/VAL	0,4406		0,0,2203	279.0	278.0	279.0		517	0.8	0.0	1	dbSNP_134	279	2,8598		0,2,4298	yes	missense	CD1C	NM_001765.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	173/334	158262062	2,13004	2203	4300	6503	156528686	SO:0001583	missense	911	exon3			M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.517G>A	1.37:g.158262062G>A	ENSP00000357152:p.Val173Ile		156528686	NM_001765	Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	CCDS1175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	0.017|0.017	-1.493131|-1.493131	0.01009|0.01009	0.0|0.0	2.33E-4|2.33E-4	ENSG00000158481|ENSG00000158481	ENST00000443761|ENST00000368169;ENST00000368170	.|T	.|0.06142	.|3.34	3.36|3.36	0.761|0.761	0.18448|0.18448	.|MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|0.438795	.|0.16866	.|N	.|0.196303	T|T	0.00300|0.00300	0.0009|0.0009	N|N	0.00197|0.00197	-1.87|-1.87	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.39583|0.39583	-0.9607|-0.9607	5|10	.|0.02654	.|T	.|1	.|.	5.213|5.213	0.15327|0.15327	0.7447:0.0:0.2553:0.0|0.7447:0.0:0.2553:0.0	.|.	.|173	.|P29017	.|CD1C_HUMAN	H|I	107|173	.|ENSP00000357152:V173I	.|ENSP00000357151:V173I	R|V	+|+	2|1	0|0	CD1C|CD1C	156528686|156528686	0.001000|0.001000	0.12720|0.12720	0.005000|0.005000	0.12908|0.12908	0.031000|0.031000	0.12232|0.12232	0.004000|0.004000	0.13106|0.13106	0.189000|0.189000	0.20188|0.20188	-0.313000|-0.313000	0.08912|0.08912	CGT|GTC		0.458	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765	
LEPROT	54741	broad.mit.edu	37	1	65895720	65895720	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02G-01	TCGA-AG-A02G-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr1:65895720C>T	ENST00000371065.4	+	3	406	c.268C>T	c.(268-270)Cgt>Tgt	p.R90C	LEPR_ENST00000344610.8_Intron|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000349533.6_Intron|LEPR_ENST00000371059.3_Intron|LEPROT_ENST00000484243.1_3'UTR|LEPR_ENST00000371060.3_Intron	NM_001198681.1|NM_017526.4	NP_001185610.1|NP_059996.1	O15243	OBRG_HUMAN	leptin receptor overlapping transcript	90					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.R90C(1)		kidney(1)|large_intestine(1)|lung(5)	7				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TATTCTTGCTCGTGTGGCTGT	0.438																																					p.R99C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C295T	1						.						351.0	338.0	342.0					1																	65895720		2203	4300	6503	65668308	SO:0001583	missense	54741	exon4			Y12670	CCDS630.1, CCDS72801.1	1p31.2	2008-02-05			ENSG00000213625	ENSG00000213625			29477	protein-coding gene	gene with protein product	"""leptin receptor gene related protein"""	613461				9207021	Standard	NM_001198681		Approved	OBRGRP, OB-RGRP, VPS55, FLJ90360	uc001dcf.3	O15243	OTTHUMG00000009065	ENST00000371065.4:c.268C>T	1.37:g.65895720C>T	ENSP00000360104:p.Arg90Cys		65668308	NM_001198681	Q6FHL5	Missense_Mutation	SNP	ENST00000371065.4	37	CCDS630.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349349	0.82132	.	.	ENSG00000213625	ENST00000371065	.	.	.	5.89	4.91	0.64330	.	0.000000	0.85682	U	0.000000	T	0.58409	0.2120	M	0.85462	2.755	0.80722	D	1	P	0.37141	0.584	B	0.35312	0.2	T	0.69749	-0.5061	9	0.87932	D	0	-11.4278	15.8532	0.78952	0.2227:0.7773:0.0:0.0	.	90	O15243	OBRG_HUMAN	C	90	.	ENSP00000360104:R90C	R	+	1	0	LEPROT	65668308	0.971000	0.33674	0.996000	0.52242	0.996000	0.88848	2.268000	0.43338	2.782000	0.95742	0.557000	0.71058	CGT		0.438	LEPROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025132.4	NM_017526	
OR2T4	127074	broad.mit.edu	37	1	248525726	248525726	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02G-01	TCGA-AG-A02G-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr1:248525726C>A	ENST00000366475.1	+	1	844	c.844C>A	c.(844-846)Ctc>Atc	p.L282I		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L282I(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGGTCATCCTCTTCTATGG	0.542																																					p.L282I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C844A	1						.						155.0	149.0	151.0					1																	248525726		2203	4300	6503	246592349	SO:0001583	missense	127074	exon1			BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.844C>A	1.37:g.248525726C>A	ENSP00000355431:p.Leu282Ile		246592349	NM_001004696	Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	7.441	0.640658	0.14386	.	.	ENSG00000196944	ENST00000366475	T	0.00256	8.42	3.0	-0.398	0.12418	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38217	N	0.001765	T	0.00144	0.0004	L	0.45470	1.425	0.09310	N	1	B	0.33826	0.427	B	0.37888	0.26	T	0.37337	-0.9710	10	0.49607	T	0.09	.	3.0637	0.06207	0.3112:0.3852:0.0:0.3036	.	282	Q8NH00	OR2T4_HUMAN	I	282	ENSP00000355431:L282I	ENSP00000355431:L282I	L	+	1	0	OR2T4	246592349	0.000000	0.05858	0.934000	0.37439	0.080000	0.17528	-1.822000	0.01711	0.045000	0.15804	0.585000	0.79938	CTC		0.542	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696	
KBTBD4	55709	broad.mit.edu	37	11	47599133	47599133	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02G-01	TCGA-AG-A02G-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr11:47599133C>T	ENST00000526005.1	-	2	572	c.419G>A	c.(418-420)cGc>cAc	p.R140H	NDUFS3_ENST00000528192.1_5'Flank|NDUFS3_ENST00000533507.1_Intron|NDUFS3_ENST00000534716.2_5'Flank|KBTBD4_ENST00000450908.1_5'Flank|KBTBD4_ENST00000525720.1_Missense_Mutation_p.R189H|KBTBD4_ENST00000430070.2_Missense_Mutation_p.R156H|NDUFS3_ENST00000534208.1_5'Flank|KBTBD4_ENST00000395288.2_Missense_Mutation_p.R140H|NDUFS3_ENST00000529276.1_5'Flank|KBTBD4_ENST00000533290.1_Missense_Mutation_p.R165H|RNU5E-10P_ENST00000363506.1_RNA|NDUFS3_ENST00000263774.4_5'Flank			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	140								p.R140H(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TTGCACTGTGCGGGCCAAAAA	0.517																																					p.R140H												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G419A	11						.						174.0	172.0	173.0					11																	47599133		2201	4298	6499	47555709	SO:0001583	missense	55709	exon2			AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.419G>A	11.37:g.47599133C>T	ENSP00000433340:p.Arg140His		47555709	NM_016506	D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	CCDS7940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.836560|4.836560	0.91117|0.91117	.|.	.|.	ENSG00000123444|ENSG00000123444	ENST00000359900|ENST00000526005;ENST00000533290;ENST00000395288;ENST00000430070;ENST00000525720;ENST00000529499;ENST00000531067;ENST00000529946;ENST00000534239	.|T;T;T;T;T;T;T;T;T	.|0.73047	.|-0.64;-0.71;-0.64;-0.7;-0.57;-0.57;-0.57;-0.57;-0.57	5.4|5.4	5.4|5.4	0.78164|0.78164	.|BTB/POZ-like (1);BTB/POZ fold (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82591|0.82591	0.5070|0.5070	L|L	0.60067|0.60067	1.865|1.865	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;1.0	.|D;D;D	.|0.81914	.|0.991;0.995;0.995	D|D	0.83844|0.83844	0.0259|0.0259	6|10	0.02654|0.72032	T|D	1|0.01	-17.6736|-17.6736	19.1652|19.1652	0.93553|0.93553	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|156;140;165	.|Q9NVX7-2;Q9NVX7;B3KRH9	.|.;KBTB4_HUMAN;.	T|H	155|140;165;140;156;189;140;140;140;165	.|ENSP00000433340:R140H;ENSP00000436713:R165H;ENSP00000378703:R140H;ENSP00000415106:R156H;ENSP00000434477:R189H;ENSP00000433404:R140H;ENSP00000433653:R140H;ENSP00000435651:R140H;ENSP00000433124:R165H	ENSP00000352971:A155T|ENSP00000378703:R140H	A|R	-|-	1|2	0|0	KBTBD4|KBTBD4	47555709|47555709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.487000|7.487000	0.81328|0.81328	2.520000|2.520000	0.84964|0.84964	0.462000|0.462000	0.41574|0.41574	GCA|CGC		0.517	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506	
PRPF19	27339	broad.mit.edu	37	11	60670225	60670225	+	Silent	SNP	A	A	G			TCGA-AG-A02G-01	TCGA-AG-A02G-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr11:60670225A>G	ENST00000227524.4	-	4	580	c.375T>C	c.(373-375)acT>acC	p.T125T		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19									p.T125T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						CTCGGGCAGCAGTGACTTCCT	0.582																																					p.T125T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T375C	11						.						64.0	57.0	59.0					11																	60670225		2203	4299	6502	60426801	SO:0001819	synonymous_variant	27339	exon4			BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.375T>C	11.37:g.60670225A>G			60426801	NM_014502		Silent	SNP	ENST00000227524.4	37	CCDS7995.1																																																																																				0.582	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502	
SLC22A8	9376	broad.mit.edu	37	11	62782410	62782410	+	Silent	SNP	C	C	T			TCGA-AG-A02G-01	TCGA-AG-A02G-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr11:62782410C>T	ENST00000336232.2	-	2	156	c.21G>A	c.(19-21)ctG>ctA	p.L7L	SLC22A8_ENST00000311438.8_Silent_p.L7L|SLC22A8_ENST00000545207.1_Intron|SLC22A8_ENST00000430500.2_Silent_p.L7L|SLC22A8_ENST00000535878.1_Intron	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	7					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)	p.L7L(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CCACACGGTCCAGGATCTCCG	0.582																																					p.L7L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G21A	11						.						113.0	99.0	104.0					11																	62782410		2201	4298	6499	62538986	SO:0001819	synonymous_variant	9376	exon2			AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.21G>A	11.37:g.62782410C>T			62538986	NM_001184732	B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Silent	SNP	ENST00000336232.2	37	CCDS8042.1																																																																																				0.582	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254	
GRM5	2915	broad.mit.edu	37	11	88337888	88337888	+	Silent	SNP	T	T	C			TCGA-AG-A02G-01	TCGA-AG-A02G-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr11:88337888T>C	ENST00000305447.4	-	4	1541	c.1392A>G	c.(1390-1392)ggA>ggG	p.G464G	GRM5_ENST00000393297.1_Silent_p.G464G|GRM5_ENST00000418177.2_Silent_p.G464G|GRM5_ENST00000305432.5_Silent_p.G464G|GRM5_ENST00000455756.2_Silent_p.G464G	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	464					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.G464G(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CACAATACCTTCCTGGAGAGT	0.418																																					p.G464G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A1392G	11						.						47.0	50.0	49.0					11																	88337888		2201	4299	6500	87977536	SO:0001819	synonymous_variant	2915	exon5			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1392A>G	11.37:g.88337888T>C			87977536	NM_000842	Q6J164	Silent	SNP	ENST00000305447.4	37	CCDS44694.1																																																																																				0.418	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	
GPLD1	2822	broad.mit.edu	37	6	24437388	24437388	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02G-01	TCGA-AG-A02G-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr6:24437388C>T	ENST00000230036.1	-	21	2260	c.2150G>A	c.(2149-2151)cGa>cAa	p.R717Q		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	717					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)	p.R717Q(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GCCACCAAATCGGGAGAAGCG	0.572																																					p.R717Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2150A	6						.						108.0	97.0	101.0					6																	24437388		2203	4300	6503	24545367	SO:0001583	missense	2822	exon21			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.2150G>A	6.37:g.24437388C>T	ENSP00000230036:p.Arg717Gln		24545367	NM_001503	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336492	0.60963	.	.	ENSG00000112293	ENST00000230036	T	0.73681	-0.77	4.69	3.82	0.43975	.	0.103103	0.42548	D	0.000695	T	0.79281	0.4419	M	0.84846	2.72	0.33389	D	0.575862	D	0.89917	1.0	P	0.62491	0.903	T	0.79834	-0.1636	10	0.41790	T	0.15	-15.3974	10.9809	0.47494	0.0:0.9122:0.0:0.0878	.	717	P80108	PHLD_HUMAN	Q	717	ENSP00000230036:R717Q	ENSP00000230036:R717Q	R	-	2	0	GPLD1	24545367	0.958000	0.32768	0.011000	0.14972	0.522000	0.34438	2.889000	0.48601	1.328000	0.45358	0.563000	0.77884	CGA		0.572	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503	
TULP1	7287	broad.mit.edu	37	6	35473905	35473905	+	Silent	SNP	G	G	T			TCGA-AG-A02G-01	TCGA-AG-A02G-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr6:35473905G>T	ENST00000229771.6	-	10	953	c.874C>A	c.(874-876)Cgg>Agg	p.R292R	TULP1_ENST00000322263.4_Silent_p.R239R	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	292					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R292R(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						ACAAACTCCCGGGGTTCGTCC	0.687																																					p.R292R	GBM(55;1027 1091 11115 23439)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C874A	6						.						29.0	35.0	33.0					6																	35473905		2201	4296	6497	35581883	SO:0001819	synonymous_variant	7287	exon10			U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.874C>A	6.37:g.35473905G>T			35581883	NM_003322	O43536|Q5TGM5|Q8N571	Silent	SNP	ENST00000229771.6	37	CCDS4807.1																																																																																				0.687	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2		
OR1A1	8383	broad.mit.edu	37	17	3119791	3119791	+	Missense_Mutation	SNP	C	C	T	rs371610534		TCGA-AG-A02G-01	TCGA-AG-A02G-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr17:3119791C>T	ENST00000304094.1	+	1	877	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R293W(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TCTGAGAAATCGGGACATGAA	0.468																																					p.R293W												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C877T	17						.	C	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	109.0	104.0	106.0		877	1.9	0.1	17		106	0,8600		0,0,4300	no	missense	OR1A1	NM_014565.2	101	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	293/310	3119791	3,13003	2203	4300	6503	3066541	SO:0001583	missense	8383	exon1			AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"""GPCR / Class A : Olfactory receptors"""	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.877C>T	17.37:g.3119791C>T	ENSP00000305207:p.Arg293Trp		3066541	NM_014565	A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	ENST00000304094.1	37	CCDS11022.1	.	.	.	.	.	.	.	.	.	.	C	6.227	0.409970	0.11812	6.81E-4	0.0	ENSG00000172146	ENST00000304094	T	0.39997	1.05	5.05	1.9	0.25705	.	0.547245	0.15536	N	0.257203	T	0.44953	0.1318	M	0.78637	2.42	0.09310	N	1	B	0.21753	0.06	B	0.11329	0.006	T	0.46596	-0.9180	10	0.87932	D	0	.	13.0249	0.58808	0.552:0.448:0.0:0.0	.	293	Q9P1Q5	OR1A1_HUMAN	W	293	ENSP00000305207:R293W	ENSP00000305207:R293W	R	+	1	2	OR1A1	3066541	0.000000	0.05858	0.135000	0.22099	0.303000	0.27691	-1.829000	0.01701	0.287000	0.22375	-0.428000	0.05917	CGG		0.468	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565	
SRP68	6730	broad.mit.edu	37	17	74068472	74068472	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02G-01	TCGA-AG-A02G-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr17:74068472C>T	ENST00000307877.2	-	1	262	c.101G>A	c.(100-102)gGa>gAa	p.G34E	GALR2_ENST00000329003.3_5'Flank|SRP68_ENST00000539137.1_Missense_Mutation_p.G34E|SRP68_ENST00000355113.5_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	34					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.G34E(1)		NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TTCTTCCCCTCCGGCACCACG	0.627																																					p.G34E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G101A	17						.						79.0	83.0	82.0					17																	74068472		2203	4300	6503	71580067	SO:0001583	missense	6730	exon1			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.101G>A	17.37:g.74068472C>T	ENSP00000312066:p.Gly34Glu		71580067	NM_014230	B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915549	0.52546	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220	D;D	0.86497	-2.13;-2.13	4.58	3.58	0.41010	.	0.493028	0.21464	N	0.074115	T	0.79435	0.4445	L	0.44542	1.39	0.80722	D	1	B;B	0.17038	0.02;0.02	B;B	0.18871	0.023;0.023	T	0.70324	-0.4903	10	0.21540	T	0.41	-13.9185	6.9515	0.24548	0.0:0.5658:0.3424:0.0918	.	34;34	G3V1U4;Q9UHB9	.;SRP68_HUMAN	E	34	ENSP00000446136:G34E;ENSP00000312066:G34E	ENSP00000307756:G34E	G	-	2	0	SRP68	71580067	0.991000	0.36638	1.000000	0.80357	0.854000	0.48673	1.758000	0.38410	1.243000	0.43853	0.542000	0.68232	GGA		0.627	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230	
USP36	57602	broad.mit.edu	37	17	76803074	76803074	+	Silent	SNP	T	T	C			TCGA-AG-A02G-01	TCGA-AG-A02G-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr17:76803074T>C	ENST00000542802.3	-	14	2495	c.2052A>G	c.(2050-2052)ccA>ccG	p.P684P	USP36_ENST00000449938.2_Silent_p.P384P|USP36_ENST00000588467.1_5'Flank|USP36_ENST00000312010.6_Silent_p.P684P			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	684					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.P684P(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTTTGGCTGGTGGAGGAGACA	0.562																																					p.P684P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A2052G	17						.						120.0	105.0	110.0					17																	76803074		2203	4300	6503	74314669	SO:0001819	synonymous_variant	57602	exon14			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2052A>G	17.37:g.76803074T>C			74314669	NM_025090	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	ENST00000542802.3	37	CCDS32755.1																																																																																				0.562	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090	
RNF40	9810	broad.mit.edu	37	16	30780286	30780286	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02G-01	TCGA-AG-A02G-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr16:30780286G>A	ENST00000324685.6	+	15	2660	c.2225G>A	c.(2224-2226)cGc>cAc	p.R742H	RNF40_ENST00000563683.1_Missense_Mutation_p.R702H|RNF40_ENST00000357890.5_Missense_Mutation_p.R642H|RNF40_ENST00000402121.3_Missense_Mutation_p.R434H	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	742					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R742H(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CACCTGCAGCGCAAGCTGGGT	0.617																																					p.R742H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2225A	16						.						44.0	44.0	44.0					16																	30780286		2197	4300	6497	30687787	SO:0001583	missense	9810	exon15			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.2225G>A	16.37:g.30780286G>A	ENSP00000325677:p.Arg742His		30687787	NM_014771	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114195	0.77210	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121;ENST00000538323	T;T;T	0.32272	1.46;1.46;1.47	5.87	4.86	0.63082	.	0.056954	0.64402	D	0.000003	T	0.43875	0.1267	L	0.50333	1.59	0.44995	D	0.998017	D;D;D;D;D	0.76494	0.98;0.996;0.999;0.994;0.994	P;P;D;P;P	0.65323	0.725;0.852;0.934;0.655;0.655	T	0.31613	-0.9937	10	0.87932	D	0	-19.3507	8.7875	0.34830	0.078:0.0:0.7693:0.1526	.	74;434;642;742;742	F6SYU7;F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;.;BRE1B_HUMAN	H	742;642;434;74	ENSP00000325677:R742H;ENSP00000350563:R642H;ENSP00000384942:R434H	ENSP00000325677:R742H	R	+	2	0	RNF40	30687787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.808000	0.47963	2.779000	0.95612	0.655000	0.94253	CGC		0.617	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771	
SALL3	27164	broad.mit.edu	37	18	76757273	76757273	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02G-01	TCGA-AG-A02G-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr18:76757273G>A	ENST00000537592.2	+	3	3854	c.3854G>A	c.(3853-3855)cGc>cAc	p.R1285H	SALL3_ENST00000536229.3_Missense_Mutation_p.R1080H|SALL3_ENST00000575389.2_Missense_Mutation_p.R1213H	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1285					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R1285H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCAGCCAGCCGCCCATTCACG	0.572																																					p.R1285H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3854A	18						.						128.0	130.0	130.0					18																	76757273		2203	4300	6503	74858261	SO:0001583	missense	27164	exon3			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3854G>A	18.37:g.76757273G>A	ENSP00000441823:p.Arg1285His		74858261	NM_171999	Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	9.711	1.157041	0.21454	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.41400	1.0	5.52	5.52	0.82312	.	0.000000	0.56097	D	0.000035	T	0.23886	0.0578	N	0.03238	-0.38	0.51012	D	0.999904	B;B	0.31054	0.037;0.306	B;B	0.25291	0.007;0.059	T	0.10154	-1.0642	10	0.37606	T	0.19	-58.0545	19.4741	0.94979	0.0:0.0:1.0:0.0	.	945;1285	F5GXY4;Q9BXA9	.;SALL3_HUMAN	H	1285;1213;945	ENSP00000441823:R1285H	ENSP00000299466:R1285H	R	+	2	0	SALL3	74858261	1.000000	0.71417	0.992000	0.48379	0.369000	0.29798	5.659000	0.68010	2.595000	0.87683	0.655000	0.94253	CGC		0.572	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999	
DZIP1L	199221	broad.mit.edu	37	3	137786448	137786448	+	Missense_Mutation	SNP	G	G	A	rs150921263	byFrequency	TCGA-AG-A02G-01	TCGA-AG-A02G-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr3:137786448G>A	ENST00000327532.2	-	14	2289	c.1927C>T	c.(1927-1929)Cgg>Tgg	p.R643W	DZIP1L_ENST00000488595.1_5'Flank	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	643					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)	p.R643W(2)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TCCTTGGGCCGGGGCACCATC	0.622													G|||	7	0.00139776	0.003	0.0043	5008	,	,		15974	0.0		0.0	False		,,,				2504	0.0				p.R643W												.	.	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)	c.C1927T	3						.	G	TRP/ARG	2,4404	2.1+/-5.4	0,2,2201	57.0	57.0	57.0		1927	-0.9	0.0	3	dbSNP_134	57	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DZIP1L	NM_173543.2	101	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	possibly-damaging	643/768	137786448	4,13002	2203	4300	6503	139269138	SO:0001583	missense	199221	exon14			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1927C>T	3.37:g.137786448G>A	ENSP00000332148:p.Arg643Trp		139269138	NM_173543	C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	37	CCDS3096.1	3|3	0.0013736263736263737|0.0013736263736263737	1|1	0.0020325203252032522|0.0020325203252032522	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	0|0	0.0|0.0	G|G	12.56|12.56	1.975595|1.975595	0.34848|0.34848	4.54E-4|4.54E-4	2.33E-4|2.33E-4	ENSG00000158163|ENSG00000158163	ENST00000486487|ENST00000327532	T|T	0.47177|0.39229	0.85|1.09	4.45|4.45	-0.889|-0.889	0.10580|0.10580	.|.	.|1.282800	.|0.05751	.|N	.|0.603121	T|T	0.28928|0.28928	0.0718|0.0718	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	.|B	.|0.15719	.|0.014	.|B	.|0.09377	.|0.004	T|T	0.44421|0.44421	-0.9329|-0.9329	7|10	0.66056|0.72032	D|D	0.02|0.01	-2.0392|-2.0392	12.3472|12.3472	0.55128|0.55128	0.0:0.0:0.3111:0.6889|0.0:0.0:0.3111:0.6889	.|.	.|643	.|Q8IYY4	.|DZI1L_HUMAN	L|W	12|643	ENSP00000417228:P12L|ENSP00000332148:R643W	ENSP00000417228:P12L|ENSP00000332148:R643W	P|R	-|-	2|1	0|2	DZIP1L|DZIP1L	139269138|139269138	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.005000|0.005000	0.04900|0.04900	-0.001000|-0.001000	0.12947|0.12947	-0.012000|-0.012000	0.14223|0.14223	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.622	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543	
PCED1B	91523	broad.mit.edu	37	12	47629178	47629178	+	Missense_Mutation	SNP	C	C	G	rs146595577		TCGA-AG-A02G-01	TCGA-AG-A02G-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr12:47629178C>G	ENST00000546455.1	+	4	1063	c.332C>G	c.(331-333)tCg>tGg	p.S111W	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.S111W			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	111							hydrolase activity (GO:0016787)	p.S111W(1)									GAGCTGCAGTCGGGCGAGCAC	0.577																																					p.S111W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C332G	12						.						105.0	117.0	113.0					12																	47629178		2203	4300	6503	45915445	SO:0001583	missense	91523	exon2			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.332C>G	12.37:g.47629178C>G	ENSP00000446688:p.Ser111Trp		45915445	NM_138371	Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	C	7.334	0.619559	0.14193	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000549500;ENST00000549630	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	4.19	1.29	0.21616	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	1.794230	0.03374	N	0.199407	T	0.32315	0.0825	L	0.29908	0.895	0.09310	N	0.999999	D	0.76494	0.999	D	0.71414	0.973	T	0.20371	-1.0277	10	0.37606	T	0.19	-0.5229	6.2747	0.20973	0.0:0.5348:0.364:0.1012	.	111	Q96HM7	F113B_HUMAN	W	111	ENSP00000446688:S111W;ENSP00000396040:S111W;ENSP00000449680:S111W;ENSP00000448000:S111W	ENSP00000396040:S111W	S	+	2	0	FAM113B	45915445	0.001000	0.12720	0.000000	0.03702	0.104000	0.19210	1.387000	0.34430	0.286000	0.22352	0.655000	0.94253	TCG		0.577	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371	
PA2G4	5036	broad.mit.edu	37	12	56505062	56505062	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02G-01	TCGA-AG-A02G-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr12:56505062C>T	ENST00000303305.6	+	11	1453	c.1034C>T	c.(1033-1035)tCt>tTt	p.S345F	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	345	Necessary for nucleolar localization.				cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)	p.S345F(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			CTCTACAAGTCTGAGATGGAG	0.483																																					p.S345F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1034T	12						.						82.0	73.0	76.0					12																	56505062		2203	4300	6503	54791329	SO:0001583	missense	5036	exon11			U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.1034C>T	12.37:g.56505062C>T	ENSP00000302886:p.Ser345Phe		54791329	NM_006191	O43846|Q9UM59	Missense_Mutation	SNP	ENST00000303305.6	37	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206015	0.95033	.	.	ENSG00000170515	ENST00000303305;ENST00000417031;ENST00000546435	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.85474	0.5705	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	D	0.87545	0.2461	9	0.66056	D	0.02	.	18.1683	0.89736	0.0:1.0:0.0:0.0	.	345;345	F8VTY8;Q9UQ80	.;PA2G4_HUMAN	F	345;374;345	.	ENSP00000302886:S345F	S	+	2	0	PA2G4	54791329	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.567000	0.82357	2.824000	0.97209	0.655000	0.94253	TCT		0.483	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191	
CSRP2	1466	broad.mit.edu	37	12	77256987	77256987	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02G-01	TCGA-AG-A02G-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr12:77256987G>A	ENST00000311083.5	-	3	373	c.250C>T	c.(250-252)Cgt>Tgt	p.R84C	CSRP2_ENST00000552330.1_Missense_Mutation_p.R84C|CSRP2_ENST00000546966.1_Missense_Mutation_p.R84C|CSRP2_ENST00000547435.1_Missense_Mutation_p.R84C	NM_001321.1	NP_001312.1	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	84					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R84C(1)		kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						CTCTCGCCACGGTCCATGTTA	0.522																																					p.R84C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C250T	12						.						109.0	94.0	99.0					12																	77256987		2203	4300	6503	75781118	SO:0001583	missense	1466	exon3			BC000992	CCDS9015.1	12q21.1	2005-10-30				ENSG00000175183			2470	protein-coding gene	gene with protein product		601871				7499425, 9286703	Standard	XM_006719258		Approved	SmLIM, CRP2, LMO5	uc001syl.1	Q16527		ENST00000311083.5:c.250C>T	12.37:g.77256987G>A	ENSP00000310901:p.Arg84Cys		75781118	NM_001321	Q93030	Missense_Mutation	SNP	ENST00000311083.5	37	CCDS9015.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754994	0.49362	.	.	ENSG00000175183	ENST00000311083;ENST00000552330;ENST00000546966;ENST00000547435	T;T;T;T	0.64618	-0.03;-0.01;-0.03;-0.11	5.72	4.78	0.61160	.	0.104904	0.64402	D	0.000008	T	0.57272	0.2042	L	0.44542	1.39	0.58432	D	0.999999	D	0.54397	0.966	P	0.44860	0.462	T	0.61048	-0.7141	10	0.54805	T	0.06	-1.5829	13.7683	0.63008	0.0:0.0:0.7367:0.2633	.	84	Q16527	CSRP2_HUMAN	C	84	ENSP00000310901:R84C;ENSP00000449824:R84C;ENSP00000450056:R84C;ENSP00000450143:R84C	ENSP00000310901:R84C	R	-	1	0	CSRP2	75781118	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.229000	0.42990	2.878000	0.98634	0.650000	0.86243	CGT		0.522	CSRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406572.1	NM_001321	
PPFIA2	8499	broad.mit.edu	37	12	81693091	81693091	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02G-01	TCGA-AG-A02G-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr12:81693091C>T	ENST00000549396.1	-	23	2873	c.2713G>A	c.(2713-2715)Gca>Aca	p.A905T	PPFIA2_ENST00000550584.2_Missense_Mutation_p.A905T|PPFIA2_ENST00000541017.1_Missense_Mutation_p.A122T|PPFIA2_ENST00000333447.7_Missense_Mutation_p.A890T|PPFIA2_ENST00000443686.3_Missense_Mutation_p.A806T|PPFIA2_ENST00000552948.1_Missense_Mutation_p.A905T|PPFIA2_ENST00000541570.2_Missense_Mutation_p.A472T|PPFIA2_ENST00000407050.4_Missense_Mutation_p.A831T|PPFIA2_ENST00000549325.1_Missense_Mutation_p.A890T|PPFIA2_ENST00000550359.2_Missense_Mutation_p.A752T|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000548586.1_Missense_Mutation_p.A905T|PPFIA2_ENST00000545296.2_Intron	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	905	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.A905T(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTAGCCATGCGACCACAGTT	0.423																																					p.A905T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2713A	12						.						71.0	69.0	69.0					12																	81693091		1840	4105	5945	80217222	SO:0001583	missense	8499	exon23			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2713G>A	12.37:g.81693091C>T	ENSP00000450337:p.Ala905Thr		80217222	NM_003625	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.881334|4.881334	0.91740|0.91740	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000551147	T;T;T;T;T;T;T;T;T|.	0.49432|.	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78|.	6.06|6.06	6.06|6.06	0.98353|0.98353	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72045|0.72045	0.3412|0.3412	L|L	0.52206|0.52206	1.635|1.635	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.65833|0.65833	-0.6072|-0.6072	10|5	0.45353|.	T|.	0.12|.	-16.922|-16.922	20.6397|20.6397	0.99537|0.99537	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	905|.	O75334|.	LIPA2_HUMAN|.	T|H	905;890;472;122;831;916;890;905;806;905|70	ENSP00000450337:A905T;ENSP00000450298:A890T;ENSP00000438337:A472T;ENSP00000445532:A122T;ENSP00000385093:A831T;ENSP00000327416:A890T;ENSP00000449338:A905T;ENSP00000388373:A806T;ENSP00000447868:A905T|.	ENSP00000327416:A890T|.	A|R	-|-	1|2	0|0	PPFIA2|PPFIA2	80217222|80217222	1.000000|1.000000	0.71417|0.71417	0.280000|0.280000	0.24747|0.24747	0.997000|0.997000	0.91878|0.91878	6.019000|6.019000	0.70818|0.70818	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	GCA|CGC		0.423	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		
DNAH10	196385	broad.mit.edu	37	12	124419261	124419261	+	Missense_Mutation	SNP	A	A	C	rs568485698		TCGA-AG-A02G-01	TCGA-AG-A02G-01	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Unspecified	454			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr12:124419261A>C	ENST00000409039.3	+	77	13242	c.13217A>C	c.(13216-13218)gAc>gCc	p.D4406A	RP11-380L11.3_ENST00000602292.1_RNA|DNAH10OS_ENST00000514254.2_5'UTR|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4406					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGGTTGTGGACCTGCCGATC	0.537																																					p.D4406A												.	.	0			c.A13217C	12						.																																			122985214	SO:0001583	missense	196385	exon77			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.13217A>C	12.37:g.124419261A>C	ENSP00000386770:p.Asp4406Ala		122985214	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	A	16.60	3.168608	0.57584	.	.	ENSG00000197653	ENST00000409039	T	0.07327	3.2	5.18	5.18	0.71444	Dynein heavy chain (1);	0.445705	0.23720	N	0.045234	T	0.05823	0.0152	N	0.13327	0.33	0.80722	D	1	B	0.13594	0.008	B	0.16722	0.016	T	0.38067	-0.9678	10	0.12766	T	0.61	.	14.9964	0.71436	1.0:0.0:0.0:0.0	.	4406	Q8IVF4	DYH10_HUMAN	A	4406	ENSP00000386770:D4406A	ENSP00000386770:D4406A	D	+	2	0	DNAH10	122985214	1.000000	0.71417	0.992000	0.48379	0.978000	0.69477	7.335000	0.79234	2.074000	0.62210	0.459000	0.35465	GAC		0.537	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
THBS1	7057	broad.mit.edu	37	15	39886364	39886364	+	Missense_Mutation	SNP	G	G	A	rs370392120		TCGA-AG-A02G-01	TCGA-AG-A02G-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr15:39886364G>A	ENST00000260356.5	+	20	3497	c.3332G>A	c.(3331-3333)cGt>cAt	p.R1111H	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1111	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.R1111H(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TACAGATGGCGTCTCAGCCAC	0.463																																					p.R1111H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3332A	15						.	G	HIS/ARG	0,4400		0,0,2200	68.0	66.0	67.0		3332	4.9	1.0	15		67	1,8593	1.2+/-3.3	0,1,4296	no	missense	THBS1	NM_003246.2	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	1111/1171	39886364	1,12993	2200	4297	6497	37673656	SO:0001583	missense	7057	exon20				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3332G>A	15.37:g.39886364G>A	ENSP00000260356:p.Arg1111His		37673656	NM_003246	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182340	0.57800	0.0	1.16E-4	ENSG00000137801	ENST00000260356	D	0.95238	-3.65	5.83	4.92	0.64577	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.214223	0.23811	N	0.044321	T	0.77232	0.4100	N	0.00403	-1.54	0.48762	D	0.999706	B;B	0.14438	0.007;0.01	B;B	0.06405	0.001;0.002	T	0.75519	-0.3289	10	0.02654	T	1	-12.1599	11.0787	0.48047	0.1417:0.0:0.8583:0.0	.	1026;1111	B4E3J7;P07996	.;TSP1_HUMAN	H	1111	ENSP00000260356:R1111H	ENSP00000260356:R1111H	R	+	2	0	THBS1	37673656	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.284000	0.72652	1.468000	0.48064	0.655000	0.94253	CGT		0.463	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246	
CYP11A1	1583	broad.mit.edu	37	15	74631641	74631641	+	Silent	SNP	G	G	A			TCGA-AG-A02G-01	TCGA-AG-A02G-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr15:74631641G>A	ENST00000268053.6	-	7	1327	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S	CYP11A1_ENST00000358632.4_Silent_p.S233S|CYP11A1_ENST00000419019.2_Silent_p.S233S	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	391					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.S391S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	GCAGGGTCACGGAGATGGGGT	0.582																																					p.S391S	Esophageal Squamous(87;818 1337 4093 9268 37314)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1173T	15						.																																			72418694	SO:0001819	synonymous_variant	1583	exon7			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.1173C>T	15.37:g.74631641G>A			72418694	NM_000781	A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Silent	SNP	ENST00000268053.6	37	CCDS32291.1																																																																																				0.582	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1		
ACAN	176	broad.mit.edu	37	15	89382193	89382193	+	Missense_Mutation	SNP	C	C	T	rs201105250		TCGA-AG-A02G-01	TCGA-AG-A02G-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr15:89382193C>T	ENST00000561243.1	+	2	370	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	ACAN_ENST00000558207.1_Missense_Mutation_p.R124C|ACAN_ENST00000439576.2_Missense_Mutation_p.R124C|ACAN_ENST00000559004.1_Missense_Mutation_p.R124C|ACAN_ENST00000352105.7_Missense_Mutation_p.R124C			P16112	PGCA_HUMAN	aggrecan	124	G1-A.|Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.R124C(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCAGAGCCTGCGCTCCAATGA	0.617																																					p.R124C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C370T	15						.						116.0	133.0	127.0					15																	89382193		2138	4255	6393	87183197	SO:0001583	missense	176	exon3			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.370C>T	15.37:g.89382193C>T	ENSP00000453342:p.Arg124Cys		87183197	NM_001135	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250194	0.59212	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.68765	-0.35;-0.35	5.36	4.45	0.53987	.	.	.	.	.	T	0.82079	0.4959	M	0.86343	2.81	0.48040	D	0.999574	P;P;D	0.89917	0.697;0.697;1.0	B;B;D	0.83275	0.178;0.178;0.996	D	0.84230	0.0466	9	0.87932	D	0	-12.5448	10.1001	0.42499	0.1361:0.7904:0.0:0.0735	.	124;124;124	E7ENV9;E7EX88;Q6PID9	.;.;.	C	124	ENSP00000387356:R124C;ENSP00000341615:R124C	ENSP00000268134:R124C	R	+	1	0	ACAN	87183197	0.992000	0.36948	1.000000	0.80357	0.985000	0.73830	2.067000	0.41461	1.410000	0.46936	0.591000	0.81541	CGC		0.617	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	
MTTP	4547	broad.mit.edu	37	4	100515928	100515928	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02G-01	TCGA-AG-A02G-01	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Unspecified	454			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr4:100515928G>A	ENST00000265517.5	+	7	1000	c.797G>A	c.(796-798)aGa>aAa	p.R266K	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Missense_Mutation_p.R266K|MTTP_ENST00000511045.1_Missense_Mutation_p.R293K			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	266	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GCAGGCCCAAGATTGATGTCT	0.428																																					p.R266K												.	.	0			c.G797A	4						.						109.0	100.0	103.0					4																	100515928		2203	4300	6503	100734951	SO:0001583	missense	4547	exon8				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.797G>A	4.37:g.100515928G>A	ENSP00000265517:p.Arg266Lys		100734951	NM_000253	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	G	0.153	-1.089470	0.01873	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	T;T;T	0.37752	1.18;1.18;1.18	4.96	4.96	0.65561	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (3);Vitellinogen, beta-sheet N-terminal (1);	0.444025	0.28104	N	0.016596	T	0.24774	0.0601	L	0.36672	1.1	0.21933	N	0.99947	B;B	0.14012	0.002;0.009	B;B	0.14023	0.003;0.01	T	0.21655	-1.0239	10	0.05959	T	0.93	-9.7603	12.0072	0.53265	0.0802:0.0:0.9198:0.0	.	293;266	E9PBP6;P55157	.;MTP_HUMAN	K	293;266;266;266	ENSP00000427679:R293K;ENSP00000400821:R266K;ENSP00000265517:R266K	ENSP00000265517:R266K	R	+	2	0	MTTP	100734951	0.932000	0.31603	0.978000	0.43139	0.037000	0.13140	2.932000	0.48940	2.442000	0.82660	0.563000	0.77884	AGA		0.428	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3		
RUFY3	22902	broad.mit.edu	37	4	71634260	71634260	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A02G-01	TCGA-AG-A02G-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr4:71634260T>G	ENST00000226328.4	+	5	1141	c.578T>G	c.(577-579)tTc>tGc	p.F193C	RUFY3_ENST00000536664.1_Missense_Mutation_p.F177C|RUFY3_ENST00000502653.1_Missense_Mutation_p.F140C|RUFY3_ENST00000417478.2_Missense_Mutation_p.F253C|RUFY3_ENST00000381006.3_Missense_Mutation_p.F193C	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	193	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)		p.F193C(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TACAGTGAATTCTACGAACCC	0.383																																					p.F193C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T578G	4						.						146.0	143.0	144.0					4																	71634260		2203	4300	6503	71853124	SO:0001583	missense	22902	exon5			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.578T>G	4.37:g.71634260T>G	ENSP00000226328:p.Phe193Cys		71853124	NM_014961	B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.696620	0.88830	.	.	ENSG00000018189	ENST00000503876;ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000513597;ENST00000502653	T;T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2;1.2	5.73	5.73	0.89815	RUN (3);	0.000000	0.85682	D	0.000000	T	0.64483	0.2602	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.987	D;D;D;D	0.91635	0.999;0.997;0.998;0.93	T	0.70174	-0.4944	10	0.87932	D	0	-15.8519	16.017	0.80445	0.0:0.0:0.0:1.0	.	177;193;193;253	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	C	129;253;193;193;177;129;140	ENSP00000426734:F129C;ENSP00000399771:F253C;ENSP00000370394:F193C;ENSP00000226328:F193C;ENSP00000443652:F177C;ENSP00000425574:F129C;ENSP00000425400:F140C	ENSP00000226328:F193C	F	+	2	0	RUFY3	71853124	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.874000	0.87199	2.182000	0.69389	0.455000	0.32223	TTC		0.383	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961	
NR3C2	4306	broad.mit.edu	37	4	149181259	149181259	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A02G-01	TCGA-AG-A02G-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr4:149181259G>A	ENST00000358102.3	-	3	2130	c.1768C>T	c.(1768-1770)Cga>Tga	p.R590*	NR3C2_ENST00000355292.3_Nonsense_Mutation_p.R590*|NR3C2_ENST00000512865.1_Nonsense_Mutation_p.R590*|NR3C2_ENST00000344721.4_Nonsense_Mutation_p.R590*|NR3C2_ENST00000511528.1_Nonsense_Mutation_p.R590*	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	590	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R590*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GAAACACTTCGTAAAGTAGAG	0.408																																					p.R590X	Melanoma(27;428 957 40335 51025 51111)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1768T	4	GRCh37	CM066154	NR3C2	M		.						85.0	82.0	83.0					4																	149181259		2203	4300	6503	149400709	SO:0001587	stop_gained	4306	exon3			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1768C>T	4.37:g.149181259G>A	ENSP00000350815:p.Arg590*		149400709	NM_001166104	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Nonsense_Mutation	SNP	ENST00000358102.3	37	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	G	39	7.873960	0.98537	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	.	.	.	5.98	5.98	0.97165	.	0.065195	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.077	0.72084	0.0:0.0:0.8252:0.1748	.	.	.	.	X	590	.	.	R	-	1	2	NR3C2	149400709	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.787000	0.62432	2.838000	0.97847	0.591000	0.81541	CGA		0.408	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1		
DMD	1756	broad.mit.edu	37	X	31986498	31986498	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02G-01	TCGA-AG-A02G-01	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chrX:31986498C>T	ENST00000357033.4	-	45	6778	c.6572G>A	c.(6571-6573)cGg>cAg	p.R2191Q	DMD_ENST00000378677.2_Missense_Mutation_p.R2187Q|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000359836.1_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2191			R -> W. {ECO:0000269|PubMed:7849724}.		cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R2187Q(1)|p.R2186Q(1)|p.R850Q(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCCTGCCACCGCAGATTCAG	0.408																																					p.R850Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G2549A	X						.						121.0	115.0	117.0					X																	31986498		2202	4300	6502	31896419	SO:0001583	missense	1756	exon17			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6572G>A	X.37:g.31986498C>T	ENSP00000354923:p.Arg2191Gln		31896419	NM_004011	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254825	0.80135	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.38077	1.16;1.16	5.37	4.51	0.55191	.	0.000000	0.32258	U	0.006351	T	0.59514	0.2199	M	0.77486	2.375	0.80722	D	1	D;B;D;B;D;D	0.89917	1.0;0.006;0.962;0.007;0.999;0.998	D;B;B;B;P;D	0.77004	0.989;0.004;0.297;0.007;0.908;0.988	T	0.61182	-0.7114	10	0.45353	T	0.12	.	13.2846	0.60235	0.0:0.9217:0.0:0.0783	.	850;2183;2191;2187;850;847	P11532-2;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;.;DMD_HUMAN;.;.;.	Q	2183;850;847;2187;2191;2191;2068	ENSP00000367948:R2187Q;ENSP00000354923:R2191Q	ENSP00000354923:R2191Q	R	-	2	0	DMD	31896419	1.000000	0.71417	0.999000	0.59377	0.850000	0.48378	4.078000	0.57606	1.050000	0.40346	0.538000	0.68166	CGG		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
AMER1	139285	broad.mit.edu	37	X	63411961	63411961	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AG-A02G-01	TCGA-AG-A02G-01			T	-	T	T	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chrX:63411961delT	ENST00000330258.3	-	2	1478	c.1206delA	c.(1204-1206)gaafs	p.E402fs	AMER1_ENST00000403336.1_Frame_Shift_Del_p.E402fs|AMER1_ENST00000374869.3_Frame_Shift_Del_p.E402fs	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	402	Glu-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.D403fs*4(2)									AGTCATCAtcttcttcctcct	0.517																																					p.E402fs												.	.	69	Whole gene deletion(67)|Deletion - Frameshift(2)	kidney(65)|large_intestine(3)|ovary(1)	c.1206delA	X						.						232.0	221.0	225.0					X																	63411961		2203	4300	6503	63328686	SO:0001589	frameshift_variant	139285	exon2			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1206delA	X.37:g.63411961delT	ENSP00000329117:p.Glu402fs		63328686	NM_152424	A2IB86|Q8N885	Frame_Shift_Del	DEL	ENST00000330258.3	37	CCDS14377.2																																																																																				0.517	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
ELF4	2000	broad.mit.edu	37	X	129200876	129200876	+	Silent	SNP	G	G	A			TCGA-AG-A02G-01	TCGA-AG-A02G-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chrX:129200876G>A	ENST00000308167.5	-	9	2191	c.1812C>T	c.(1810-1812)cgC>cgT	p.R604R	ELF4_ENST00000335997.7_Silent_p.R604R	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)									p.R604R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CAACAGTGGGGCGGCTGGGAG	0.597			T	ERG	AML																																p.R604R			Dom	yes		X	Xq26	2000	E74-like factor 4 (ets domain transcription factor)		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1812T	X						.						80.0	87.0	85.0					X																	129200876		2203	4300	6503	129028557	SO:0001819	synonymous_variant	2000	exon9			U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1812C>T	X.37:g.129200876G>A			129028557	NM_001421		Silent	SNP	ENST00000308167.5	37	CCDS14617.1																																																																																				0.597	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421	
BIN1	274	broad.mit.edu	37	2	127806139	127806139	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02G-01	TCGA-AG-A02G-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr2:127806139C>A	ENST00000316724.5	-	19	2156	c.1745G>T	c.(1744-1746)gGc>gTc	p.G582V	BIN1_ENST00000351659.3_Missense_Mutation_p.G495V|BIN1_ENST00000376113.2_Missense_Mutation_p.G413V|BIN1_ENST00000348750.4_Missense_Mutation_p.G398V|BIN1_ENST00000466111.1_5'Flank|BIN1_ENST00000259238.4_Missense_Mutation_p.G486V|BIN1_ENST00000357970.3_Missense_Mutation_p.G539V|BIN1_ENST00000409400.1_Missense_Mutation_p.G428V|BIN1_ENST00000393040.3_Missense_Mutation_p.G471V|BIN1_ENST00000352848.3_Missense_Mutation_p.G443V|BIN1_ENST00000346226.3_Missense_Mutation_p.G507V|BIN1_ENST00000393041.3_Missense_Mutation_p.G464V	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	582	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)	p.G582V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GGGGAAGACGCCACGGCACTT	0.627																																					p.G471V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1412T	2						.						96.0	92.0	93.0					2																	127806139		2203	4300	6503	127522609	SO:0001583	missense	274	exon15			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.1745G>T	2.37:g.127806139C>A	ENSP00000316779:p.Gly582Val		127522609	NM_139348	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Missense_Mutation	SNP	ENST00000316724.5	37	CCDS2138.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242176	0.58995	.	.	ENSG00000136717	ENST00000376113;ENST00000357970;ENST00000393040;ENST00000348750;ENST00000259238;ENST00000346226;ENST00000393041;ENST00000351659;ENST00000352848;ENST00000316724;ENST00000409400	T;T;T;T;T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	4.88	4.88	0.63580	Src homology-3 domain (4);Variant SH3 (1);	0.000000	0.85682	D	0.000000	D	0.92932	0.7751	H	0.98866	4.355	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.95460	0.8542	10	0.87932	D	0	-33.5637	15.6379	0.76970	0.0:1.0:0.0:0.0	.	459;374;464;428;471;507;495;443;486;539;413;398;582	B7Z2Z2;B7Z6Y2;O00499-4;O00499-7;O00499-6;O00499-2;O00499-3;O00499-8;O00499-11;O00499-5;O00499-10;O00499-9;O00499	.;.;.;.;.;.;.;.;.;.;.;.;BIN1_HUMAN	V	413;539;471;398;486;507;464;495;443;582;428	ENSP00000365281:G413V;ENSP00000350654:G539V;ENSP00000376760:G471V;ENSP00000259237:G398V;ENSP00000259238:G486V;ENSP00000315411:G507V;ENSP00000376761:G464V;ENSP00000315388:G495V;ENSP00000315284:G443V;ENSP00000316779:G582V;ENSP00000386797:G428V	ENSP00000259238:G486V	G	-	2	0	BIN1	127522609	1.000000	0.71417	0.995000	0.50966	0.130000	0.20726	6.071000	0.71229	2.565000	0.86533	0.555000	0.69702	GGC		0.627	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343	
THSD7B	80731	broad.mit.edu	37	2	137872782	137872782	+	Missense_Mutation	SNP	G	G	A	rs375232957		TCGA-AG-A02G-01	TCGA-AG-A02G-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr2:137872782G>A	ENST00000409968.1	+	5	1466	c.1288G>A	c.(1288-1290)Gtg>Atg	p.V430M	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.V430M|THSD7B_ENST00000413152.2_Missense_Mutation_p.V399M			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	430	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.V430M(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GACGGGACCCGTGTGTGGCGG	0.597																																					p.V399M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1195A	2						.	G	MET/VAL	1,3929		0,1,1964	46.0	51.0	50.0		1195	-1.0	0.0	2		50	0,8316		0,0,4158	no	missense	THSD7B	NM_001080427.1	21	0,1,6122	AA,AG,GG		0.0,0.0254,0.0082	possibly-damaging	399/1578	137872782	1,12245	1965	4158	6123	137589252	SO:0001583	missense	80731	exon4					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1288G>A	2.37:g.137872782G>A	ENSP00000387145:p.Val430Met		137589252	NM_001080427		Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	G	10.92	1.487096	0.26686	2.54E-4	0.0	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60920	0.15;0.15;0.15	4.88	-1.02	0.10135	.	0.351936	0.30085	N	0.010447	T	0.35451	0.0932	L	0.29908	0.895	0.20638	N	0.999879	P;P	0.46987	0.888;0.888	B;B	0.39503	0.301;0.283	T	0.31110	-0.9955	10	0.44086	T	0.13	.	4.9514	0.14015	0.4264:0.2418:0.3318:0.0	.	430;399	Q9C0I4;C9JKN6	THS7B_HUMAN;.	M	430;430;399	ENSP00000387145:V430M;ENSP00000272643:V430M;ENSP00000413841:V399M	ENSP00000272643:V430M	V	+	1	0	THSD7B	137589252	0.014000	0.17966	0.028000	0.17463	0.577000	0.36160	0.205000	0.17356	-0.030000	0.13804	0.655000	0.94253	GTG		0.597	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	
LRP2	4036	broad.mit.edu	37	2	170022537	170022537	+	Missense_Mutation	SNP	C	C	T	rs77686710	byFrequency	TCGA-AG-A02G-01	TCGA-AG-A02G-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr2:170022537C>T	ENST00000263816.3	-	62	11948	c.11663G>A	c.(11662-11664)cGt>cAt	p.R3888H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3888	LDL-receptor class A 35. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R3888H(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACACCGGAAACGGTTTGGTGA	0.398													C|||	16	0.00319489	0.0091	0.0043	5008	,	,		22500	0.0		0.001	False		,,,				2504	0.0				p.R3888H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11663A	2						.	C	HIS/ARG	43,4363	45.3+/-79.5	0,43,2160	172.0	159.0	164.0		11663	6.1	1.0	2	dbSNP_131	164	3,8597	3.0+/-9.4	0,3,4297	yes	missense	LRP2	NM_004525.2	29	0,46,6457	TT,TC,CC		0.0349,0.9759,0.3537	probably-damaging	3888/4656	170022537	46,12960	2203	4300	6503	169730783	SO:0001583	missense	4036	exon62				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11663G>A	2.37:g.170022537C>T	ENSP00000263816:p.Arg3888His		169730783	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	5|5	0.0022893772893772895|0.0022893772893772895	3|3	0.006097560975609756|0.006097560975609756	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	0|0	0.0|0.0	C|C	36|36	5.765429|5.765429	0.96906|0.96906	0.009759|0.009759	3.49E-4|3.49E-4	ENSG00000081479|ENSG00000081479	ENST00000263816|ENST00000536293	D|.	0.95412|.	-3.7|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64316|0.64316	0.2587|0.2587	L|L	0.42529|0.42529	1.33|1.33	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.66504|0.66504	-0.5907|-0.5907	10|6	0.59425|0.54805	D|T	0.04|0.06	.|.	20.6397|20.6397	0.99537|0.99537	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3888|.	P98164|.	LRP2_HUMAN|.	H|I	3888|553	ENSP00000263816:R3888H|.	ENSP00000263816:R3888H|ENSP00000438157:V553I	R|V	-|-	2|1	0|0	LRP2|LRP2	169730783|169730783	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.974000|0.974000	0.67602|0.67602	6.093000|6.093000	0.71422|0.71422	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	CGT|GTT		0.398	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
GPR113	165082	broad.mit.edu	37	2	26534355	26534356	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-AG-A02G-01	TCGA-AG-A02G-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr2:26534355_26534356GC>AT	ENST00000311519.1	-	11	2239_2240	c.2240_2241GC>AT	c.(2239-2241)tGC>tAT	p.C747Y	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Missense_Mutation_p.C350Y|GPR113_ENST00000421160.2_Missense_Mutation_p.C678Y|GPR113_ENST00000333478.6_Missense_Mutation_p.C548Y	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	747	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C548>?(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGGCAGAGGCACTGAGCAGT	0.619																																					.												.	.	1	Complex(1)	large_intestine(1)	c.2033_2034AT	2						.																																			26387860	SO:0001583	missense	165082	exon10			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2240_2241delinsAT	2.37:g.26534355_26534356delinsAT	ENSP00000307831:p.Cys747Tyr		26387859	NM_001145169	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	DNP	ENST00000311519.1	37	CCDS46239.1																																																																																				0.619	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835	
SOCS5	9655	broad.mit.edu	37	2	46987060	46987060	+	Missense_Mutation	SNP	C	C	T	rs149307689		TCGA-AG-A02G-01	TCGA-AG-A02G-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr2:46987060C>T	ENST00000306503.5	+	2	1563	c.1391C>T	c.(1390-1392)tCg>tTg	p.S464L	SOCS5_ENST00000394861.2_Missense_Mutation_p.S464L	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	464	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)	p.S464L(3)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GATCCCAGTTCGTGCATGTTT	0.438																																					p.S464L												.	.	3	Substitution - Missense(3)	large_intestine(2)|lung(1)	c.C1391T	2						.	C	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	111.0	106.0	107.0		1391,1391	4.6	1.0	2	dbSNP_134	107	0,8600		0,0,4300	no	missense,missense	SOCS5	NM_014011.4,NM_144949.2	145,145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	464/537,464/537	46987060	1,13005	2203	4300	6503	46840564	SO:0001583	missense	9655	exon2			AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1391C>T	2.37:g.46987060C>T	ENSP00000305133:p.Ser464Leu		46840564	NM_144949	Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781752	0.70222	2.27E-4	0.0	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.32272	1.46;1.46	5.43	4.55	0.56014	SH2 motif (3);	0.055880	0.64402	D	0.000001	T	0.13072	0.0317	N	0.01352	-0.895	0.53005	D	0.999961	B	0.19583	0.037	B	0.12837	0.008	T	0.07252	-1.0782	10	0.41790	T	0.15	-20.7869	15.4335	0.75125	0.1399:0.8601:0.0:0.0	.	464	O75159	SOCS5_HUMAN	L	464	ENSP00000305133:S464L;ENSP00000378330:S464L	ENSP00000305133:S464L	S	+	2	0	SOCS5	46840564	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	7.651000	0.83577	1.514000	0.48869	0.655000	0.94253	TCG		0.438	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2		
ITGAV	3685	broad.mit.edu	37	2	187540408	187540408	+	Nonsense_Mutation	SNP	C	C	A	rs199793723	byFrequency	TCGA-AG-A02G-01	TCGA-AG-A02G-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr2:187540408C>A	ENST00000261023.3	+	27	3058	c.2784C>A	c.(2782-2784)taC>taA	p.Y928*	ITGAV_ENST00000374907.3_Nonsense_Mutation_p.Y892*|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Nonsense_Mutation_p.Y882*	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	928					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)	p.Y928fs*1(1)|p.Y928*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	CAATCTTGTACGTAAAGTCAT	0.393																																					p.Y882X	Melanoma(58;108 1995 6081)											.	.	2	Substitution - Nonsense(1)|Deletion - Frameshift(1)	large_intestine(1)|stomach(1)	c.C2646A	2						.						126.0	119.0	121.0					2																	187540408		2203	4300	6503	187248653	SO:0001587	stop_gained	3685	exon27				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2784C>A	2.37:g.187540408C>A	ENSP00000261023:p.Tyr928*		187248653	NM_001144999	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Nonsense_Mutation	SNP	ENST00000261023.3	37	CCDS2292.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.510260|5.510260	0.96386|0.96386	.|.	.|.	ENSG00000138448|ENSG00000138448	ENST00000430709|ENST00000261023;ENST00000374907;ENST00000433736	.|.	.|.	.|.	5.4|5.4	-4.85|-4.85	0.03142|0.03142	.|.	.|0.060791	.|0.64402	.|D	.|0.000002	T|.	0.35422|.	0.0931|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.44128|.	-0.9348|.	3|.	.|0.10636	.|T	.|0.68	.|.	13.0029|13.0029	0.58687|0.58687	0.0:0.5285:0.0:0.4715|0.0:0.5285:0.0:0.4715	.|.	.|.	.|.	.|.	K|X	79|928;892;882	.|.	.|ENSP00000261023:Y928X	T|Y	+|+	2|3	0|2	ITGAV|ITGAV	187248653|187248653	0.837000|0.837000	0.29446|0.29446	0.097000|0.097000	0.21041|0.21041	0.258000|0.258000	0.26162|0.26162	-0.285000|-0.285000	0.08410|0.08410	-0.977000|-0.977000	0.03537|0.03537	-0.440000|-0.440000	0.05779|0.05779	ACG|TAC		0.393	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210	
ZNF462	58499	broad.mit.edu	37	9	109694777	109694777	+	Silent	SNP	C	C	T	rs376720857		TCGA-AG-A02G-01	TCGA-AG-A02G-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr9:109694777C>T	ENST00000277225.5	+	5	6352	c.6063C>T	c.(6061-6063)cgC>cgT	p.R2021R	ZNF462_ENST00000542028.1_5'Flank|ZNF462_ENST00000457913.1_Silent_p.R2081R|ZNF462_ENST00000441147.2_Silent_p.R927R|ZNF462_ENST00000497489.1_3'UTR			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2021					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R2021R(2)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGTTTACCCGCGAGGACAAGT	0.537													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18931	0.0		0.0	False		,,,				2504	0.0				p.R2021R												.	.	2	Substitution - coding silent(2)	large_intestine(1)|breast(1)	c.C6063T	9						.	C		1,4405	2.1+/-5.4	0,1,2202	145.0	105.0	119.0		6063	-5.0	1.0	9		119	0,8600		0,0,4300	no	coding-synonymous	ZNF462	NM_021224.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		2021/2507	109694777	1,13005	2203	4300	6503	108734598	SO:0001819	synonymous_variant	58499	exon5			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6063C>T	9.37:g.109694777C>T			108734598	NM_021224	Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	CCDS35096.1																																																																																				0.537	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
LRRC8A	56262	broad.mit.edu	37	9	131671018	131671018	+	Silent	SNP	C	C	G			TCGA-AG-A02G-01	TCGA-AG-A02G-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr9:131671018C>G	ENST00000259324.5	+	3	2098	c.1575C>G	c.(1573-1575)ggC>ggG	p.G525G	LRRC8A_ENST00000372599.3_Silent_p.G525G|LRRC8A_ENST00000372600.4_Silent_p.G525G	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	525					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.G525G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						ACCTGACGGGCAACCTGAGCG	0.592																																					p.G525G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1575G	9						.						47.0	42.0	44.0					9																	131671018		2203	4300	6503	130710839	SO:0001819	synonymous_variant	56262	exon3			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1575C>G	9.37:g.131671018C>G			130710839	NM_019594	Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	ENST00000259324.5	37	CCDS35155.1																																																																																				0.592	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594	
FLT1	2321	broad.mit.edu	37	13	28903789	28903789	+	Silent	SNP	G	G	A	rs550669773		TCGA-AG-A02G-01	TCGA-AG-A02G-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr13:28903789G>A	ENST00000282397.4	-	19	2921	c.2670C>T	c.(2668-2670)aaC>aaT	p.N890N	FLT1_ENST00000540678.1_Silent_p.N108N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	890	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.N890N(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGTTAACCACGTTCAGATGGT	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17705	0.0		0.0	False		,,,				2504	0.0				p.N890N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2670T	13						.						156.0	132.0	140.0					13																	28903789		2203	4300	6503	27801789	SO:0001819	synonymous_variant	2321	exon19			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2670C>T	13.37:g.28903789G>A			27801789	NM_002019	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	CCDS9330.1																																																																																				0.572	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
INTS6	26512	broad.mit.edu	37	13	51961664	51961664	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A02G-01	TCGA-AG-A02G-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr13:51961664T>A	ENST00000311234.4	-	7	1224	c.752A>T	c.(751-753)gAt>gTt	p.D251V	INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000497989.1_Missense_Mutation_p.D73V|INTS6_ENST00000490542.1_5'Flank|INTS6_ENST00000463928.1_Missense_Mutation_p.D251V|INTS6_ENST00000398119.2_Missense_Mutation_p.D238V|INTS6_ENST00000420668.2_3'UTR	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	251					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)	p.D251V(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		CCTTGATATATCTGGCTGCCC	0.358																																					p.D251V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A752T	13						.						58.0	54.0	56.0					13																	51961664		2203	4300	6503	50859665	SO:0001583	missense	26512	exon7			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.752A>T	13.37:g.51961664T>A	ENSP00000310260:p.Asp251Val		50859665	NM_012141	Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.723288	0.48728	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989	.	.	.	4.81	4.81	0.61882	.	0.435447	0.27433	N	0.019392	T	0.63331	0.2502	M	0.63428	1.95	0.80722	D	1	B	0.26935	0.164	B	0.34590	0.186	T	0.63567	-0.6608	9	0.44086	T	0.13	-14.4311	13.825	0.63346	0.0:0.0:0.0:1.0	.	251	Q9UL03	INT6_HUMAN	V	251;238;73	.	ENSP00000310260:D251V	D	-	2	0	INTS6	50859665	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.688000	0.68227	1.909000	0.55274	0.459000	0.35465	GAT		0.358	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141	
NALCN	259232	broad.mit.edu	37	13	102029174	102029174	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02G-01	TCGA-AG-A02G-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr13:102029174G>A	ENST00000251127.6	-	6	602	c.521C>T	c.(520-522)tCg>tTg	p.S174L	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.S174L|NALCN_ENST00000376200.5_Missense_Mutation_p.S174L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	174					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.S174L(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGTTCTCCCGATCGCCTAGA	0.313																																					p.S174L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C521T	13						.						104.0	116.0	112.0					13																	102029174		2202	4300	6502	100827175	SO:0001583	missense	259232	exon6			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.521C>T	13.37:g.102029174G>A	ENSP00000251127:p.Ser174Leu		100827175	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400129	0.83120	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98889	-5.21;-5.21;-5.21	4.92	4.92	0.64577	Ion transport (1);	0.066807	0.64402	D	0.000006	D	0.99093	0.9688	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.975;0.991	D	0.99814	1.1043	10	0.87932	D	0	.	17.7591	0.88459	0.0:0.0:1.0:0.0	.	174;174	F2Z323;Q8IZF0	.;NALCN_HUMAN	L	174	ENSP00000251127:S174L;ENSP00000365367:S174L;ENSP00000365373:S174L	ENSP00000251127:S174L	S	-	2	0	NALCN	100827175	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	9.460000	0.97641	2.283000	0.76528	0.650000	0.86243	TCG		0.313	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
ERCC6	2074	broad.mit.edu	37	10	50678590	50678590	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02G-01	TCGA-AG-A02G-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr10:50678590G>A	ENST00000355832.5	-	18	3494	c.3416C>T	c.(3415-3417)tCt>tTt	p.S1139F	ERCC6_ENST00000465653.1_5'Flank|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.S509F	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1139					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.S1139F(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGATGGCATAGAAGTTTTGCC	0.408								Direct reversal of damage;Nucleotide excision repair (NER)																													p.S1139F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3416T	10						.						119.0	110.0	113.0					10																	50678590		2203	4300	6503	50348596	SO:0001583	missense	2074	exon18			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3416C>T	10.37:g.50678590G>A	ENSP00000348089:p.Ser1139Phe		50348596	NM_000124	D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434193	0.25813	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.82984	-1.67;-1.41	5.65	-4.25	0.03766	.	.	.	.	.	T	0.64538	0.2607	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.51276	-0.8726	9	0.52906	T	0.07	11.5364	5.9236	0.19096	0.0774:0.2384:0.5085:0.1757	.	1139;516	Q03468;Q59FF6	ERCC6_HUMAN;.	F	1139;516;509	ENSP00000348089:S1139F;ENSP00000445134:S509F	ENSP00000348089:S1139F	S	-	2	0	ERCC6	50348596	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.216000	0.01221	-0.506000	0.06558	0.655000	0.94253	TCT		0.408	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124	
TET1	80312	broad.mit.edu	37	10	70451231	70451231	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02G-01	TCGA-AG-A02G-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr10:70451231G>A	ENST00000373644.4	+	12	6280	c.6071G>A	c.(6070-6072)cGg>cAg	p.R2024Q		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2024					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.R2024Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAGTGTGCCCGGCGAGAGCTG	0.522																																					p.R2024Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6071A	10						.						96.0	90.0	92.0					10																	70451231		2203	4300	6503	70121237	SO:0001583	missense	80312	exon12			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.6071G>A	10.37:g.70451231G>A	ENSP00000362748:p.Arg2024Gln		70121237	NM_030625	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053723	0.75960	.	.	ENSG00000138336	ENST00000373644	T	0.12465	2.68	5.6	5.6	0.85130	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.296167	0.30781	N	0.008893	T	0.35828	0.0945	M	0.72894	2.215	0.32793	N	0.500866	D	0.76494	0.999	D	0.79108	0.992	T	0.45702	-0.9243	10	0.72032	D	0.01	.	13.2315	0.59947	0.0729:0.0:0.9271:0.0	.	2024	Q8NFU7	TET1_HUMAN	Q	2024	ENSP00000362748:R2024Q	ENSP00000362748:R2024Q	R	+	2	0	TET1	70121237	1.000000	0.71417	0.950000	0.38849	0.329000	0.28539	7.596000	0.82721	2.806000	0.96561	0.655000	0.94253	CGG		0.522	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625	
NT5C2	22978	broad.mit.edu	37	10	104850701	104850701	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02G-01	TCGA-AG-A02G-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr10:104850701G>A	ENST00000404739.3	-	15	1287	c.1264C>T	c.(1264-1266)Cgt>Tgt	p.R422C	NT5C2_ENST00000343289.5_Missense_Mutation_p.R422C|NT5C2_ENST00000423468.2_Missense_Mutation_p.R393C|NT5C2_ENST00000369857.4_5'UTR			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	422					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)	p.R422C(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	ACCTTAATACGTCTCTGGATG	0.363																																					p.R422C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1264T	10						.						87.0	88.0	88.0					10																	104850701		2203	4300	6503	104840691	SO:0001583	missense	22978	exon17			D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.1264C>T	10.37:g.104850701G>A	ENSP00000383960:p.Arg422Cys		104840691	NM_012229	B7Z382|D3DR91|Q5JUV5	Missense_Mutation	SNP	ENST00000404739.3	37	CCDS7544.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416477	0.42918	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000423468;ENST00000421281	T;T;T;T	0.24350	1.9;1.9;1.9;1.86	5.95	5.95	0.96441	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	L	0.46614	1.455	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.997	P;P;P	0.55087	0.668;0.768;0.668	T	0.01228	-1.1412	10	0.35671	T	0.21	-13.1343	20.3854	0.98941	0.0:0.0:1.0:0.0	.	393;269;422	B7Z382;B3KXN5;P49902	.;.;5NTC_HUMAN	C	422;422;393;122	ENSP00000339479:R422C;ENSP00000383960:R422C;ENSP00000392236:R393C;ENSP00000408112:R122C	ENSP00000339479:R422C	R	-	1	0	NT5C2	104840691	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.656000	0.67988	2.825000	0.97269	0.655000	0.94253	CGT		0.363	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229	
APC	324	broad.mit.edu	37	5	112116592	112116592	+	Nonsense_Mutation	SNP	C	C	T	rs587781392		TCGA-AG-A02G-01	TCGA-AG-A02G-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr5:112116592C>T	ENST00000457016.1	+	6	1017	c.637C>T	c.(637-639)Cga>Tga	p.R213*	APC_ENST00000257430.4_Nonsense_Mutation_p.R213*|APC_ENST00000508376.2_Nonsense_Mutation_p.R213*|RNU6-482P_ENST00000391068.1_RNA			P25054	APC_HUMAN	adenomatous polyposis coli	213	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R213*(20)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TATGGAAAAACGAGCACAGGT	0.348		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.R223X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,large_intestine,rectum,Substitution - Nonsense,0	.	20	Substitution - Nonsense(20)	large_intestine(19)|lung(1)	c.C667T	5	GRCh37	CM920027	APC	M		.						58.0	57.0	58.0					5																	112116592		2202	4300	6502	112144491	SO:0001587	stop_gained	324	exon5	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.637C>T	5.37:g.112116592C>T	ENSP00000413133:p.Arg213*		112144491	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	37	6.046788	0.97231	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.56	3.74	0.42951	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0079	14.2561	0.66053	0.4075:0.5925:0.0:0.0	.	.	.	.	X	213;223;213;213;213	.	ENSP00000257430:R213X	R	+	1	2	APC	112144491	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.672000	0.46850	0.659000	0.30945	0.655000	0.94253	CGA		0.348	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
NRG2	9542	broad.mit.edu	37	5	139267060	139267060	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02G-01	TCGA-AG-A02G-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr5:139267060G>A	ENST00000361474.1	-	2	961	c.737C>T	c.(736-738)aCg>aTg	p.T246M	NRG2_ENST00000340391.3_Missense_Mutation_p.T43M|NRG2_ENST00000394770.1_Missense_Mutation_p.T246M|NRG2_ENST00000545385.1_Missense_Mutation_p.T246M|NRG2_ENST00000289409.4_Missense_Mutation_p.T246M|NRG2_ENST00000541337.1_Missense_Mutation_p.T246M|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000358522.3_Missense_Mutation_p.T246M|NRG2_ENST00000289422.7_Missense_Mutation_p.T246M	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	246	Ig-like C2-type.				embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.T154M(2)|p.T246M(2)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTGTCCCGTCTGGCTCTT	0.582																																					p.T246M												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C737T	5						.						96.0	81.0	86.0					5																	139267060		2203	4300	6503	139247244	SO:0001583	missense	9542	exon2				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.737C>T	5.37:g.139267060G>A	ENSP00000354910:p.Thr246Met		139247244	NM_013981		Missense_Mutation	SNP	ENST00000361474.1	37	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.491233	0.64074	.	.	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000394770;ENST00000340391;ENST00000289409;ENST00000358522;ENST00000544729;ENST00000378238	T;T;T;T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.29	4.36	0.52297	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.349244	0.26616	N	0.023382	T	0.66327	0.2778	M	0.68317	2.08	0.37234	D	0.905809	P;P;P;P	0.47253	0.868;0.725;0.868;0.892	B;B;B;P	0.45232	0.294;0.37;0.294;0.474	T	0.74269	-0.3720	10	0.59425	D	0.04	-8.1125	10.3883	0.44154	0.0:0.0:0.7124:0.2876	.	246;246;246;246	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	M	246;246;246;246;246;246;43;246;246;154;246	ENSP00000444235:T246M;ENSP00000289422:T246M;ENSP00000354910:T246M;ENSP00000438753:T246M;ENSP00000378251:T246M;ENSP00000342660:T43M;ENSP00000289409:T246M;ENSP00000351323:T246M;ENSP00000367483:T246M	ENSP00000289409:T246M	T	-	2	0	NRG2	139247244	0.990000	0.36364	0.969000	0.41365	0.991000	0.79684	2.167000	0.42415	2.473000	0.83533	0.462000	0.41574	ACG		0.582	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982	
PCDHA3	56145	broad.mit.edu	37	5	140181074	140181074	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02G-01	TCGA-AG-A02G-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr5:140181074C>T	ENST00000522353.2	+	1	292	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R98W|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	98	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R98W(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGTGCGGGCGGAGCGCGGA	0.567																																					p.R98W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C292T	5						.						127.0	142.0	137.0					5																	140181074		2203	4300	6503	140161258	SO:0001583	missense	56145	exon1			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.292C>T	5.37:g.140181074C>T	ENSP00000429808:p.Arg98Trp		140161258	NM_031497	O75286	Missense_Mutation	SNP	ENST00000522353.2	37	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	N	3.113	-0.182174	0.06340	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.28666	1.6;1.6	4.51	1.59	0.23543	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.38005	U	0.001845	T	0.27594	0.0678	M	0.66378	2.025	0.09310	N	1	P;B	0.35226	0.491;0.091	B;B	0.35039	0.194;0.106	T	0.18335	-1.0340	10	0.59425	D	0.04	.	5.4105	0.16346	0.3787:0.4499:0.0978:0.0737	.	98;98	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	W	98	ENSP00000429808:R98W;ENSP00000434086:R98W	ENSP00000429808:R98W	R	+	1	2	PCDHA3	140161258	0.000000	0.05858	0.664000	0.29753	0.048000	0.14542	-1.633000	0.02022	-0.140000	0.11394	-1.595000	0.00837	CGG		0.567	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
PCDHB16	57717	broad.mit.edu	37	5	140563853	140563853	+	Silent	SNP	T	T	C	rs111302655		TCGA-AG-A02G-01	TCGA-AG-A02G-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02G-01	TCGA-AG-A02G-01	g.chr5:140563853T>C	ENST00000361016.2	+	1	2874	c.1719T>C	c.(1717-1719)acT>acC	p.T573T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	573	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T573T(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCCTGCACTGAGCTGGTGC	0.697																																					p.T573T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1719C	5						.						16.0	20.0	19.0					5																	140563853		1987	3954	5941	140544037	SO:0001819	synonymous_variant	57717	exon1			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1719T>C	5.37:g.140563853T>C			140544037	NM_020957	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																				0.697	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957	
