#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_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	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_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABCC8	6833	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	17418564	17418564	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr11:17418564C>G	ENST00000389817.3	-	33	4086	c.4018G>C	c.(4018-4020)Gac>Cac	p.D1340H	ABCC8_ENST00000302539.4_Missense_Mutation_p.D1341H			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1340					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.D1340H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TTCCCTTGGTCTGGCCAGTTC	0.622																																																	1	Substitution - Missense(1)	kidney(1)											130.0	111.0	117.0					11																	17418564		2200	4293	6493	SO:0001583	missense	6833			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4018G>C	11.37:g.17418564C>G	ENSP00000374467:p.Asp1340His	Somatic		WXS	Illumina HiSeq	Phase_I	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	CCDS31437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.35|17.35	3.367282|3.367282	0.61513|0.61513	.|.	.|.	ENSG00000006071|ENSG00000006071	ENST00000389817;ENST00000302539|ENST00000528374	D;D|.	0.90324|.	-2.65;-2.65|.	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	0.277660|.	0.37955|.	N|.	0.001871|.	T|T	0.52821|0.52821	0.1758|0.1758	N|N	0.17674|0.17674	0.51|0.51	0.44862|0.44862	D|D	0.997872|0.997872	B|.	0.33073|.	0.396|.	B|.	0.36534|.	0.227|.	T|T	0.49021|0.49021	-0.8982|-0.8982	10|5	0.36615|.	T|.	0.2|.	.|.	18.2867|18.2867	0.90117|0.90117	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1340|.	Q09428|.	ABCC8_HUMAN|.	H|T	1340;1341|167	ENSP00000374467:D1340H;ENSP00000303960:D1341H|.	ENSP00000303960:D1341H|.	D|R	-|-	1|2	0|0	ABCC8|ABCC8	17375140|17375140	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.912000|0.912000	0.54170|0.54170	5.240000|5.240000	0.65378|0.65378	2.386000|2.386000	0.81285|0.81285	0.555000|0.555000	0.69702|0.69702	GAC|AGA		0.622	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1		NM_000352	
ALOX15B	247	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7942501	7942501	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr17:7942501A>G	ENST00000380183.4	+	1	167	c.28A>G	c.(28-30)Acc>Gcc	p.T10A	ALOX15B_ENST00000573359.1_Missense_Mutation_p.T10A|ALOX15B_ENST00000572022.1_Missense_Mutation_p.T10A|ALOX15B_ENST00000380173.2_Missense_Mutation_p.T10A	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	10	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)	p.T10A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CAGGGTGTCCACCGGAGAAGC	0.667																																																	1	Substitution - Missense(1)	kidney(1)											60.0	63.0	62.0					17																	7942501		2203	4300	6503	SO:0001583	missense	247			U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.28A>G	17.37:g.7942501A>G	ENSP00000369530:p.Thr10Ala	Somatic		WXS	Illumina HiSeq	Phase_I	D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	CCDS11128.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.452758	0.84209	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	T;T	0.80909	-1.43;-1.43	4.09	4.09	0.47781	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.000000	0.85682	U	0.000000	D	0.90239	0.6948	M	0.88979	2.995	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.91769	0.5426	10	0.87932	D	0	-25.0281	12.3363	0.55069	1.0:0.0:0.0:0.0	.	10;10;10;10	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	A	10	ENSP00000369520:T10A;ENSP00000369530:T10A	ENSP00000344337:T10A	T	+	1	0	ALOX15B	7883226	0.999000	0.42202	0.940000	0.37924	0.144000	0.21451	6.840000	0.75369	1.598000	0.50083	0.477000	0.44152	ACC		0.667	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			
ANO1	55107	broad.mit.edu;ucsc.edu	37	11	70017113	70017113	+	Missense_Mutation	SNP	G	G	A	rs376371042		TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr11:70017113G>A	ENST00000355303.5	+	22	2623	c.2318G>A	c.(2317-2319)cGa>cAa	p.R773Q	ANO1_ENST00000531349.1_Missense_Mutation_p.R482Q|ANO1_ENST00000538023.1_Missense_Mutation_p.R773Q|ANO1_ENST00000530676.1_Missense_Mutation_p.R627Q|ANO1_ENST00000398543.2_Missense_Mutation_p.R627Q|ANO1_ENST00000525494.1_3'UTR	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	773					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.R773Q(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	ACTGAGCTCCGAAGGCCGGTA	0.612																																																	2	Substitution - Missense(2)	kidney(2)						G	GLN/ARG	1,4005		0,1,2002	43.0	45.0	45.0		2318	3.5	0.9	11		45	0,8362		0,0,4181	no	missense	ANO1	NM_018043.5	43	0,1,6183	AA,AG,GG		0.0,0.025,0.0081	probably-damaging	773/987	70017113	1,12367	2003	4181	6184	SO:0001583	missense	55107			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2318G>A	11.37:g.70017113G>A	ENSP00000347454:p.Arg773Gln	Somatic		WXS	Illumina GAIIx	Phase_I	A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940097	0.92526	2.5E-4	0.0	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000530676;ENST00000531349;ENST00000539321	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	4.39	3.47	0.39725	.	0.119806	0.51477	N	0.000086	T	0.76550	0.4003	M	0.76574	2.34	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77109	-0.2709	9	.	.	.	.	12.4533	0.55688	0.0824:0.0:0.9176:0.0	.	482;773	E9PNA7;Q5XXA6	.;ANO1_HUMAN	Q	773;773;627;531;627;482;100	ENSP00000347454:R773Q;ENSP00000444689:R773Q;ENSP00000381551:R627Q;ENSP00000435797:R627Q;ENSP00000432843:R482Q	.	R	+	2	0	ANO1	69694761	0.995000	0.38212	0.915000	0.36163	0.907000	0.53573	6.476000	0.73587	0.986000	0.38683	0.462000	0.41574	CGA		0.612	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1		NM_018043	
ANO1	55107	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	70031793	70031793	+	Missense_Mutation	SNP	G	G	A	rs374804618		TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr11:70031793G>A	ENST00000355303.5	+	25	2991	c.2686G>A	c.(2686-2688)Gtc>Atc	p.V896I	ANO1_ENST00000531349.1_Missense_Mutation_p.V605I|ANO1_ENST00000538023.1_Missense_Mutation_p.V896I|ANO1_ENST00000530676.1_Missense_Mutation_p.V750I|ANO1_ENST00000398543.2_Missense_Mutation_p.V750I|ANO1_ENST00000525494.1_3'UTR|ANO1-AS1_ENST00000524987.1_RNA	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	896					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.V896I(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GTTTGTCATCGTCTTCCAGGT	0.557																																																	2	Substitution - Missense(2)	kidney(2)						G	ILE/VAL	0,3914		0,0,1957	79.0	89.0	86.0		2686	5.3	1.0	11		86	1,8297		0,1,4148	no	missense	ANO1	NM_018043.5	29	0,1,6105	AA,AG,GG		0.0121,0.0,0.0082	benign	896/987	70031793	1,12211	1957	4149	6106	SO:0001583	missense	55107			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2686G>A	11.37:g.70031793G>A	ENSP00000347454:p.Val896Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	8.653	0.898612	0.17686	0.0	1.21E-4	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000530676;ENST00000531349;ENST00000539321	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	N	0.11154	0.105	0.80722	D	1	B;B	0.32396	0.17;0.369	B;B	0.28465	0.053;0.09	T	0.37337	-0.9710	9	.	.	.	.	18.891	0.92403	0.0:0.0:1.0:0.0	.	605;896	E9PNA7;Q5XXA6	.;ANO1_HUMAN	I	896;896;750;654;750;605;223	ENSP00000347454:V896I;ENSP00000444689:V896I;ENSP00000381551:V750I;ENSP00000435797:V750I;ENSP00000432843:V605I	.	V	+	1	0	ANO1	69709441	1.000000	0.71417	0.989000	0.46669	0.724000	0.41520	4.823000	0.62694	2.460000	0.83146	0.655000	0.94253	GTC		0.557	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1		NM_018043	
AOC3	8639	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41004871	41004871	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr17:41004871C>A	ENST00000308423.2	+	1	1671	c.1511C>A	c.(1510-1512)aCt>aAt	p.T504N	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	504					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.T504N(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TTTGGTGCTACTGGGAAGTAC	0.537																																					NSCLC(3;192 220 10664 11501 16477)												1	Substitution - Missense(1)	kidney(1)											94.0	82.0	86.0					17																	41004871		2203	4300	6503	SO:0001583	missense	8639			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1511C>A	17.37:g.41004871C>A	ENSP00000312326:p.Thr504Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	C	6.418	0.445322	0.12164	.	.	ENSG00000131471	ENST00000308423	T	0.03524	3.9	5.26	1.58	0.23477	Copper amine oxidase, C-terminal (3);	0.499872	0.17942	U	0.156813	T	0.01353	0.0044	N	0.00926	-1.1	0.54753	D	0.999984	B	0.02656	0.0	B	0.06405	0.002	T	0.53599	-0.8416	10	0.21540	T	0.41	.	10.1982	0.43067	0.1119:0.3186:0.5694:0.0	.	504	Q16853	AOC3_HUMAN	N	504	ENSP00000312326:T504N	ENSP00000312326:T504N	T	+	2	0	AOC3	38258397	0.997000	0.39634	0.099000	0.21106	0.121000	0.20230	2.948000	0.49066	0.660000	0.30964	0.655000	0.94253	ACT		0.537	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1		NM_003734	
ATP5C1	509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	7839091	7839091	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr10:7839091G>T	ENST00000356708.7	+	3	252	c.173G>T	c.(172-174)cGa>cTa	p.R58L	ATP5C1_ENST00000335698.4_Missense_Mutation_p.R58L|ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000541227.1_Missense_Mutation_p.R11L	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	58					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)	p.R58L(1)		breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						AAATATGCCCGAGCTGAGAGA	0.403																																					Melanoma(143;1012 1820 16249 30920 33158)												1	Substitution - Missense(1)	kidney(1)											61.0	60.0	61.0					10																	7839091		2203	4300	6503	SO:0001583	missense	509			D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.173G>T	10.37:g.7839091G>T	ENSP00000349142:p.Arg58Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Missense_Mutation	SNP	ENST00000356708.7	37	CCDS31142.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723697	0.89298	.	.	ENSG00000165629	ENST00000356708;ENST00000335698;ENST00000541227	.	.	.	5.17	4.27	0.50696	ATPase, F1 complex, gamma subunit domain (1);	0.000000	0.85682	D	0.000000	D	0.84660	0.5521	H	0.94264	3.515	0.80722	D	1	D	0.63880	0.993	P	0.62560	0.904	D	0.88817	0.3296	9	0.87932	D	0	-7.2339	13.826	0.63351	0.0744:0.0:0.9256:0.0	.	58	P36542	ATPG_HUMAN	L	58;58;11	.	ENSP00000338568:R58L	R	+	2	0	ATP5C1	7879097	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.772000	0.85439	1.196000	0.43129	-0.150000	0.13652	CGA		0.403	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1		NM_005174	
ARMC4	55130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	28233812	28233812	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr10:28233812G>T	ENST00000305242.5	-	11	1558	c.1466C>A	c.(1465-1467)gCc>gAc	p.A489D	ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_Missense_Mutation_p.A14D|ARMC4_ENST00000537576.1_Missense_Mutation_p.A181D	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	489					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.A489D(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATCTCTGATGGCCAACTGGCA	0.463																																																	1	Substitution - Missense(1)	kidney(1)											114.0	107.0	109.0					10																	28233812		2203	4300	6503	SO:0001583	missense	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1466C>A	10.37:g.28233812G>T	ENSP00000306410:p.Ala489Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	G	35	5.557206	0.96514	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014;ENST00000537573	T;T;T	0.49720	0.77;0.77;0.77	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73853	0.3640	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.80764	0.994;0.964	T	0.74147	-0.3759	10	0.49607	T	0.09	-23.7717	20.3668	0.98882	0.0:0.0:1.0:0.0	.	14;489	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	D	181;489;14;181	ENSP00000443208:A181D;ENSP00000306410:A489D;ENSP00000441076:A14D	ENSP00000306410:A489D	A	-	2	0	ARMC4	28273818	1.000000	0.71417	0.979000	0.43373	0.981000	0.71138	9.679000	0.98649	2.894000	0.99253	0.655000	0.94253	GCC		0.463	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1		NM_018076	
C6orf222	389384	broad.mit.edu;ucsc.edu	37	6	36294388	36294388	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr6:36294388C>T	ENST00000437635.2	-	5	1112	c.935G>A	c.(934-936)gGg>gAg	p.G312E		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	312								p.G312E(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						ATCTGCAGCCCCCCTCTTGGC	0.557																																																	1	Substitution - Missense(1)	kidney(1)											130.0	138.0	135.0					6																	36294388		2203	4300	6503	SO:0001583	missense	389384				CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.935G>A	6.37:g.36294388C>T	ENSP00000418983:p.Gly312Glu	Somatic		WXS	Illumina GAIIx	Phase_I	B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	37	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	C	9.797	1.179536	0.21787	.	.	ENSG00000189325	ENST00000437635	T	0.48201	0.82	3.36	0.379	0.16213	.	0.487929	0.17517	N	0.171418	T	0.26268	0.0641	M	0.62723	1.935	0.09310	N	1	B	0.29627	0.252	B	0.37943	0.261	T	0.36138	-0.9760	10	0.66056	D	0.02	-3.6136	5.3587	0.16075	0.0:0.4746:0.4056:0.1197	.	312	P0C671	CF222_HUMAN	E	312	ENSP00000418983:G312E	ENSP00000418983:G312E	G	-	2	0	C6orf222	36402366	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.206000	0.09398	0.061000	0.16311	0.462000	0.41574	GGG		0.557	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2		NM_001010903	
BACH2	60468	broad.mit.edu	37	6	90660625	90660625	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr6:90660625C>A	ENST00000257749.4	-	7	1907	c.1200G>T	c.(1198-1200)aaG>aaT	p.K400N	BACH2_ENST00000537989.1_Missense_Mutation_p.K400N|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.K400N|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	400						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.K400N(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGGACACCTCCTTCTGGCCCA	0.582																																																	2	Substitution - Missense(2)	kidney(2)											25.0	27.0	26.0					6																	90660625		2149	4203	6352	SO:0001583	missense	60468			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1200G>T	6.37:g.90660625C>A	ENSP00000257749:p.Lys400Asn	Somatic		WXS	Illumina GAIIx	Phase_I	E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855078	0.51376	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.50813	0.73;0.73;0.73	5.56	5.56	0.83823	.	0.044680	0.85682	D	0.000000	T	0.51312	0.1667	L	0.32530	0.975	0.50171	D	0.999858	D	0.76494	0.999	D	0.63488	0.915	T	0.55604	-0.8115	10	0.87932	D	0	-28.2176	19.5376	0.95260	0.0:1.0:0.0:0.0	.	400	Q9BYV9	BACH2_HUMAN	N	400	ENSP00000257749:K400N;ENSP00000437473:K400N;ENSP00000345642:K400N	ENSP00000257749:K400N	K	-	3	2	BACH2	90717346	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	2.751000	0.47508	2.620000	0.88729	0.655000	0.94253	AAG		0.582	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2		NM_021813	
CAT	847	hgsc.bcm.edu;ucsc.edu	37	11	34489943	34489946	+	Splice_Site	DEL	GTGA	GTGA	-	rs373595532		TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	GTGA	GTGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr11:34489943_34489946delGTGA	ENST00000241052.4	+	11	1523		c.e11+1			NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase						aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	GAAGAAAGCGGTGAGTCTTTGTAA	0.461																																																	0																																										SO:0001630	splice_region_variant	847			AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.1434+1GTGA>-	11.37:g.34489943_34489946delGTGA		Somatic		WXS	Illumina HiSeq	Phase_I	A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Frame_Shift_Del	DEL	ENST00000241052.4	37	CCDS7891.1																																																																																				0.461	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2		NM_001752	Intron
CDH23	64072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	73544690	73544690	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr10:73544690C>T	ENST00000224721.6	+	42	5565	c.5560C>T	c.(5560-5562)Cct>Tct	p.P1854S		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1849	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.P1854S(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CGACAACGACCCTGTGCTGCT	0.597																																																	1	Substitution - Missense(1)	kidney(1)											93.0	98.0	96.0					10																	73544690		2189	4279	6468	SO:0001583	missense	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5560C>T	10.37:g.73544690C>T	ENSP00000224721:p.Pro1854Ser	Somatic		WXS	Illumina HiSeq	Phase_I	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	C	21.9	4.216955	0.79352	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	4.35	4.35	0.52113	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87561	0.6208	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92150	0.5727	9	0.87932	D	0	.	17.224	0.86964	0.0:1.0:0.0:0.0	.	1849	Q9H251	CAD23_HUMAN	S	1854;1849;1852	.	ENSP00000224721:P1854S	P	+	1	0	CDH23	73214696	1.000000	0.71417	0.997000	0.53966	0.713000	0.41058	7.744000	0.85034	2.131000	0.65755	0.305000	0.20034	CCT		0.597	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4		NM_052836	
CDH7	1005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	63547734	63547734	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr18:63547734T>A	ENST00000397968.2	+	12	2388	c.1962T>A	c.(1960-1962)gaT>gaA	p.D654E	CDH7_ENST00000323011.3_Missense_Mutation_p.D654E	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	654					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D654E(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGAGATACGATGACGAGGGCG	0.493																																																	2	Substitution - Missense(2)	kidney(2)											70.0	72.0	71.0					18																	63547734		2203	4300	6503	SO:0001583	missense	1005			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1962T>A	18.37:g.63547734T>A	ENSP00000381058:p.Asp654Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.221641	0.39300	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	T;T	0.61040	0.14;0.14	5.61	-8.64	0.00874	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.67524	0.2902	M	0.66506	2.035	0.50039	D	0.999845	D	0.89917	1.0	D	0.87578	0.998	T	0.80636	-0.1294	10	0.87932	D	0	.	16.3149	0.82915	0.0:0.5634:0.0:0.4366	.	654	Q9ULB5	CADH7_HUMAN	E	654	ENSP00000319166:D654E;ENSP00000381058:D654E	ENSP00000319166:D654E	D	+	3	2	CDH7	61698714	0.551000	0.26497	0.012000	0.15200	0.010000	0.07245	-0.188000	0.09642	-2.128000	0.00818	-1.027000	0.02421	GAT		0.493	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2		NM_033646	
CHRNA1	1134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	175614794	175614794	+	Silent	SNP	A	A	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr2:175614794A>G	ENST00000261007.5	-	8	1023	c.957T>C	c.(955-957)atT>atC	p.I319I	CHRNA1_ENST00000409542.1_Silent_p.I212I|CHRNA1_ENST00000409219.1_Silent_p.I294I|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000348749.5_Silent_p.I294I	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	319					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)	p.I319I(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	TGTATTTTCCAATCAAGGGCA	0.502																																																	1	Substitution - coding silent(1)	kidney(1)											211.0	161.0	178.0					2																	175614794		2203	4300	6503	SO:0001819	synonymous_variant	1134			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.957T>C	2.37:g.175614794A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B4DRV6|D3DPE8	Silent	SNP	ENST00000261007.5	37	CCDS33331.1																																																																																				0.502	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			
CHRNB1	1140	hgsc.bcm.edu;ucsc.edu	37	17	7350241	7350245	+	Frame_Shift_Del	DEL	TGACG	TGACG	-			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	TGACG	TGACG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr17:7350241_7350245delTGACG	ENST00000306071.2	+	4	400_404	c.333_337delTGACG	c.(331-339)cctgacgtgfs	p.DV112fs	CHRNB1_ENST00000576360.1_Frame_Shift_Del_p.DV40fs|CHRNB1_ENST00000536404.2_Frame_Shift_Del_p.DV40fs|RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.10_ENST00000575331.1_RNA	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	112					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	TGTGGCTCCCTGACGTGGTGCTACT	0.663																																																	0																																										SO:0001589	frameshift_variant	1140			X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.333_337delTGACG	17.37:g.7350241_7350245delTGACG	ENSP00000304290:p.Asp112fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z5H1|Q8IZ46|Q96FB8	Frame_Shift_Del	DEL	ENST00000306071.2	37	CCDS11106.1																																																																																				0.663	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			
CLVS1	157807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	62212689	62212689	+	Silent	SNP	C	C	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr8:62212689C>T	ENST00000519846.1	+	3	775	c.303C>T	c.(301-303)cgC>cgT	p.R101R	CLVS1_ENST00000325897.4_Silent_p.R101R|RP11-787D18.1_ENST00000518064.1_RNA|RP11-787D18.1_ENST00000521801.1_RNA|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	101					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.R101R(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCCAGTACCGCCAGCTAAACC	0.507																																																	1	Substitution - coding silent(1)	kidney(1)											65.0	63.0	64.0					8																	62212689		2203	4300	6503	SO:0001819	synonymous_variant	157807			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.303C>T	8.37:g.62212689C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2R7M5|C8UZT3|Q8NB32	Silent	SNP	ENST00000519846.1	37	CCDS6176.1																																																																																				0.507	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1		NM_173519	
COL6A3	1293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	238249699	238249699	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr2:238249699C>T	ENST00000295550.4	-	38	8312	c.7860G>A	c.(7858-7860)atG>atA	p.M2620I	COL6A3_ENST00000347401.3_Missense_Mutation_p.M2419I|COL6A3_ENST00000353578.4_Missense_Mutation_p.M2414I|COL6A3_ENST00000346358.4_Missense_Mutation_p.M2420I|COL6A3_ENST00000472056.1_Missense_Mutation_p.M2013I|COL6A3_ENST00000409809.1_Missense_Mutation_p.M2414I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2620	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.M2620I(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGATGAAAGCCATGTCGATGT	0.527																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											190.0	184.0	186.0					2																	238249699		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7860G>A	2.37:g.238249699C>T	ENSP00000295550:p.Met2620Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043294	0.36085	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.05	5.05	0.67936	von Willebrand factor, type A (3);	0.443090	0.21076	N	0.080571	T	0.62841	0.2461	N	0.17474	0.49	0.40261	D	0.978171	B;B;B	0.25390	0.001;0.001;0.125	B;B;B	0.37267	0.002;0.001;0.245	T	0.55891	-0.8069	10	0.02654	T	1	.	10.1126	0.42572	0.0:0.8746:0.0:0.1254	.	2013;2414;2620	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	I	2620;2419;2414;2013;2414;2420	ENSP00000295550:M2620I;ENSP00000315609:M2419I;ENSP00000315873:M2414I;ENSP00000418285:M2013I;ENSP00000386844:M2414I;ENSP00000295546:M2420I	ENSP00000295550:M2620I	M	-	3	0	COL6A3	237914438	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	1.181000	0.32017	2.478000	0.83669	0.655000	0.94253	ATG		0.527	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2		NM_004369	
COL6A6	131873	hgsc.bcm.edu;ucsc.edu	37	3	130286060	130286063	+	Frame_Shift_Del	DEL	GAAA	GAAA	-			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	GAAA	GAAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr3:130286060_130286063delGAAA	ENST00000358511.6	+	4	1828_1831	c.1797_1800delGAAA	c.(1795-1800)ttgaaafs	p.LK599fs	COL6A6_ENST00000453409.2_Frame_Shift_Del_p.LK599fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	599	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTGATGCATTGAAAGACATAAGAA	0.422																																																	0																																										SO:0001589	frameshift_variant	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1797_1800delGAAA	3.37:g.130286060_130286063delGAAA	ENSP00000351310:p.Leu599fs	Somatic		WXS	Illumina HiSeq	Phase_I	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Frame_Shift_Del	DEL	ENST00000358511.6	37	CCDS46911.1																																																																																				0.422	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608	
CXCR6	10663	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	45988808	45988808	+	Silent	SNP	C	C	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr3:45988808C>T	ENST00000458629.1	+	1	2298	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L	FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000304552.4_Silent_p.L279L|CXCR6_ENST00000438735.1_Silent_p.L279L|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000457814.1_Silent_p.L279L|FYCO1_ENST00000438446.1_Intron			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	279					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|viral genome replication (GO:0019079)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)	p.L279L(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CATCGCATACCTGAGGGCCTG	0.502																																					Esophageal Squamous(63;1005 1117 15521 45762 47089)												1	Substitution - coding silent(1)	kidney(1)											116.0	98.0	104.0					3																	45988808		2203	4300	6503	SO:0001819	synonymous_variant	10663			AF007545	CCDS2735.1	3p21	2012-08-08			ENSG00000172215	ENSG00000172215		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	16647	protein-coding gene	gene with protein product		605163				9166430, 9230441	Standard	XM_005264809		Approved	TYMSTR, STRL33, BONZO, CD186	uc003cpc.1	O00574	OTTHUMG00000133448	ENST00000458629.1:c.835C>T	3.37:g.45988808C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O00575|Q9HCA5	Silent	SNP	ENST00000458629.1	37	CCDS2735.1																																																																																				0.502	CXCR6-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344395.1			
DBF4B	80174	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42828502	42828502	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr17:42828502G>A	ENST00000315005.3	+	14	1867	c.1729G>A	c.(1729-1731)Gcc>Acc	p.A577T	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	577					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.A577T(1)		kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				GTGTACCCTTGCCTTCCCCTC	0.562																																																	1	Substitution - Missense(1)	kidney(1)											120.0	102.0	108.0					17																	42828502		2203	4300	6503	SO:0001583	missense	80174			AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1729G>A	17.37:g.42828502G>A	ENSP00000323663:p.Ala577Thr	Somatic		WXS	Illumina HiSeq	Phase_I	D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266502	0.40095	.	.	ENSG00000161692	ENST00000315005	T	0.54675	0.56	1.94	-1.36	0.09085	.	1.345490	0.06217	U	0.685981	T	0.27524	0.0676	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.14117	-1.0484	9	.	.	.	.	5.0654	0.14580	0.5226:0.0:0.4774:0.0	.	577	Q8NFT6	DBF4B_HUMAN	T	577	ENSP00000323663:A577T	.	A	+	1	0	DBF4B	40184028	0.000000	0.05858	0.001000	0.08648	0.079000	0.17450	-0.103000	0.10940	-0.315000	0.08703	0.313000	0.20887	GCC		0.562	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1		NM_025104	
DNAH3	55567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	21147728	21147728	+	Missense_Mutation	SNP	G	G	A	rs541602132		TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr16:21147728G>A	ENST00000261383.3	-	6	802	c.803C>T	c.(802-804)aCg>aTg	p.T268M	DNAH3_ENST00000415178.1_Missense_Mutation_p.T268M	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	268	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.T268M(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAAGGGACTCGTCAGCAGCGT	0.493																																																	2	Substitution - Missense(2)	kidney(2)											164.0	151.0	156.0					16																	21147728		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.803C>T	16.37:g.21147728G>A	ENSP00000261383:p.Thr268Met	Somatic		WXS	Illumina HiSeq	Phase_I	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	4.862	0.160318	0.09287	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.23147	1.92;2.08	5.53	-0.757	0.11054	.	0.969729	0.08520	N	0.933677	T	0.14917	0.0360	L	0.33485	1.01	0.09310	N	1	B;B	0.27380	0.025;0.177	B;B	0.15052	0.004;0.012	T	0.29027	-1.0025	10	0.49607	T	0.09	.	2.5698	0.04791	0.1525:0.102:0.3877:0.3578	.	268;239	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	M	268;268;239	ENSP00000261383:T268M;ENSP00000394245:T268M	ENSP00000261383:T268M	T	-	2	0	DNAH3	21055229	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	0.687000	0.25407	0.275000	0.22094	0.655000	0.94253	ACG		0.493	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539	
DSG1	1828	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	28898303	28898303	+	Missense_Mutation	SNP	A	A	G	rs141269991	byFrequency	TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr18:28898303A>G	ENST00000257192.4	+	1	252	c.40A>G	c.(40-42)Att>Gtt	p.I14V		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	14					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.I14V(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AATGCTGTTCATTTTTCTGGT	0.378																																																	1	Substitution - Missense(1)	kidney(1)											189.0	168.0	175.0					18																	28898303		2203	4300	6503	SO:0001583	missense	1828			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.40A>G	18.37:g.28898303A>G	ENSP00000257192:p.Ile14Val	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.597595	0.28445	.	.	ENSG00000134760	ENST00000257192	T	0.57273	0.41	5.94	-1.08	0.09936	.	0.802559	0.11300	N	0.578266	T	0.42698	0.1214	L	0.46157	1.445	0.28970	N	0.889273	B	0.15473	0.013	B	0.17098	0.017	T	0.38351	-0.9665	10	0.49607	T	0.09	.	8.6859	0.34236	0.4185:0.468:0.1135:0.0	.	14	Q02413	DSG1_HUMAN	V	14	ENSP00000257192:I14V	ENSP00000257192:I14V	I	+	1	0	DSG1	27152301	0.980000	0.34600	0.001000	0.08648	0.906000	0.53458	0.490000	0.22403	-0.384000	0.07845	-0.323000	0.08544	ATT		0.378	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1		NM_001942	
EPHA2	1969	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	16458586	16458586	+	Silent	SNP	G	G	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr1:16458586G>A	ENST00000358432.5	-	13	2452	c.2298C>T	c.(2296-2298)gaC>gaT	p.D766D		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	766	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D766D(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CCTCGGGGTCGTCCTCCAGCA	0.612																																																	1	Substitution - coding silent(1)	kidney(1)											119.0	106.0	111.0					1																	16458586		2203	4300	6503	SO:0001819	synonymous_variant	1969			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2298C>T	1.37:g.16458586G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B5A968|Q8N3Z2	Silent	SNP	ENST00000358432.5	37	CCDS169.1																																																																																				0.612	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1		NM_004431	
EXPH5	23086	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	108381263	108381263	+	Silent	SNP	G	G	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr11:108381263G>A	ENST00000265843.4	-	6	5081	c.4971C>T	c.(4969-4971)agC>agT	p.S1657S	EXPH5_ENST00000428840.1_Silent_p.S1581S|EXPH5_ENST00000443411.1_Silent_p.S1469S|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000525344.1_Silent_p.S1650S	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1657					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.S1657S(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CACTCAACCTGCTTTCGCCAA	0.488																																																	1	Substitution - coding silent(1)	kidney(1)											177.0	175.0	175.0					11																	108381263		2201	4298	6499	SO:0001819	synonymous_variant	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4971C>T	11.37:g.108381263G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	CCDS8341.1																																																																																				0.488	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1		NM_015065	
SPATA31A6	389730	broad.mit.edu	37	9	43627074	43627074	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr9:43627074T>C	ENST00000332857.6	-	4	1641	c.1613A>G	c.(1612-1614)cAc>cGc	p.H538R	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	538					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.H538R(1)									CCATTCAGGGTGCTGAGTTTC	0.478																																																	1	Substitution - Missense(1)	kidney(1)											5.0	6.0	6.0					9																	43627074		589	1485	2074	SO:0001583	missense	0				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1613A>G	9.37:g.43627074T>C	ENSP00000329825:p.His538Arg	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000332857.6	37	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.251238	0.22880	.	.	ENSG00000185775	ENST00000332857	T	0.06528	3.29	2.35	2.35	0.29111	.	0.525534	0.17575	N	0.169339	T	0.03011	0.0089	N	0.10972	0.075	0.09310	N	1	B	0.18013	0.025	B	0.20184	0.028	T	0.47018	-0.9149	10	0.13108	T	0.6	-7.5056	6.7702	0.23589	0.0:0.0:0.0:1.0	.	538	Q5VVP1	F75A6_HUMAN	R	538	ENSP00000329825:H538R	ENSP00000329825:H538R	H	-	2	0	FAM75A6	43567070	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.736000	0.04882	1.359000	0.45940	0.315000	0.21342	CAC		0.478	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1		NM_001145196	
RMDN1	51115	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	87500826	87500826	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr8:87500826C>G	ENST00000406452.3	-	3	449	c.290G>C	c.(289-291)gGa>gCa	p.G97A	CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000519966.1_Missense_Mutation_p.G97A|RMDN1_ENST00000523911.1_Missense_Mutation_p.G53A|RMDN1_ENST00000430676.2_Missense_Mutation_p.G97A	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	97						microtubule (GO:0005874)|mitochondrion (GO:0005739)		p.G97A(1)									TTCTGTTTCTCCGCTTTCATA	0.348																																																	1	Substitution - Missense(1)	kidney(1)											186.0	184.0	185.0					8																	87500826		2203	4299	6502	SO:0001583	missense	0			AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"""family with sequence similarity 82, member B"""	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.290G>C	8.37:g.87500826C>G	ENSP00000385927:p.Gly97Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Missense_Mutation	SNP	ENST00000406452.3	37	CCDS34918.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.183850	0.57800	.	.	ENSG00000176623	ENST00000406452;ENST00000523911;ENST00000519966;ENST00000430676;ENST00000521045	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.69	5.69	0.88448	.	0.114374	0.64402	N	0.000012	T	0.52837	0.1759	L	0.58669	1.825	0.80722	D	1	P;B;B	0.48089	0.905;0.285;0.285	P;B;B	0.51487	0.671;0.32;0.32	T	0.36383	-0.9750	10	0.21540	T	0.41	-23.2497	19.8093	0.96541	0.0:1.0:0.0:0.0	.	97;97;97	B4DZW6;E7EVI2;Q96DB5	.;.;RMD1_HUMAN	A	97;53;97;97;53	ENSP00000385927:G97A;ENSP00000429899:G53A;ENSP00000428661:G97A;ENSP00000409661:G97A;ENSP00000428743:G53A	ENSP00000385927:G97A	G	-	2	0	FAM82B	87569942	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.289000	0.65656	2.688000	0.91661	0.460000	0.39030	GGA		0.348	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2		NM_016033	
FMN2	56776	hgsc.bcm.edu	37	1	240371469	240371469	+	Silent	SNP	C	C	T	rs199920451		TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr1:240371469C>T	ENST00000319653.9	+	5	3587	c.3357C>T	c.(3355-3357)ccC>ccT	p.P1119P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1119	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1262P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGGCATACCCCCTCCTCCCC	0.716																																																	1	Substitution - coding silent(1)	prostate(1)											8.0	10.0	9.0					1																	240371469		2095	4131	6226	SO:0001819	synonymous_variant	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3357C>T	1.37:g.240371469C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																				0.716	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2		XM_371352	
FNBP4	23360	hgsc.bcm.edu	37	11	47774573	47774573	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr11:47774573G>A	ENST00000263773.5	-	4	544	c.532C>T	c.(532-534)Cca>Tca	p.P178S	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	178						nucleus (GO:0005634)		p.P178S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GCTTCCTTTGGCTCTGGTCGA	0.488																																																	1	Substitution - Missense(1)	kidney(1)											130.0	127.0	128.0					11																	47774573		1965	4151	6116	SO:0001583	missense	23360			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.532C>T	11.37:g.47774573G>A	ENSP00000263773:p.Pro178Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827760	0.90955	.	.	ENSG00000109920	ENST00000263773	T	0.33865	1.39	5.85	5.85	0.93711	.	0.236087	0.43260	D	0.000599	T	0.56001	0.1956	M	0.66939	2.045	0.52099	D	0.999944	D	0.60575	0.988	P	0.57720	0.826	T	0.50600	-0.8809	10	0.41790	T	0.15	-13.2611	19.76	0.96311	0.0:0.0:1.0:0.0	.	178	Q8N3X1	FNBP4_HUMAN	S	178	ENSP00000263773:P178S	ENSP00000263773:P178S	P	-	1	0	FNBP4	47731149	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	4.688000	0.61715	2.753000	0.94483	0.655000	0.94253	CCA		0.488	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			
FRMD7	90167	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	131234681	131234681	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chrX:131234681C>A	ENST00000298542.4	-	2	296	c.121G>T	c.(121-123)Gaa>Taa	p.E41*	FRMD7_ENST00000464296.1_Nonsense_Mutation_p.E41*	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	41	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.E41*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CCAAAATATTCCTTTTCAGCA	0.358																																																	1	Substitution - Nonsense(1)	kidney(1)											108.0	104.0	105.0					X																	131234681		2203	4300	6503	SO:0001587	stop_gained	90167			AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.121G>T	X.37:g.131234681C>A	ENSP00000298542:p.Glu41*	Somatic		WXS	Illumina HiSeq	Phase_I	C0LLJ3|Q5JX99	Nonsense_Mutation	SNP	ENST00000298542.4	37	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814372	0.90790	.	.	ENSG00000165694	ENST00000298542;ENST00000464296	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9397	0.79745	0.0:1.0:0.0:0.0	.	.	.	.	X	41	.	ENSP00000298542:E41X	E	-	1	0	FRMD7	131062362	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.192000	0.72069	2.067000	0.61834	0.594000	0.82650	GAA		0.358	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1		NM_194277	
GANAB	23193	broad.mit.edu;ucsc.edu	37	11	62396249	62396249	+	Silent	SNP	A	A	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr11:62396249A>G	ENST00000356638.3	-	17	2188	c.2172T>C	c.(2170-2172)ccT>ccC	p.P724P	GANAB_ENST00000540933.1_Silent_p.P627P|GANAB_ENST00000346178.4_Silent_p.P746P|GANAB_ENST00000534779.1_Silent_p.P632P	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	724					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)	p.P724P(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	ACCTCATGACAGGAATGCCTT	0.527																																					Melanoma(23;1005 1074 15747 18937)												1	Substitution - coding silent(1)	kidney(1)											142.0	133.0	136.0					11																	62396249		2202	4299	6501	SO:0001819	synonymous_variant	23193			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2172T>C	11.37:g.62396249A>G		Somatic		WXS	Illumina GAIIx	Phase_I	A6NC20|Q8WTS9|Q9P0X0	Silent	SNP	ENST00000356638.3	37	CCDS8026.1																																																																																				0.527	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1		NM_198334	
GBGT1	26301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	136029294	136029294	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr9:136029294C>G	ENST00000372040.3	-	7	1025	c.714G>C	c.(712-714)caG>caC	p.Q238H	RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000540636.1_Missense_Mutation_p.Q221H|GBGT1_ENST00000372043.3_Missense_Mutation_p.S232T|GBGT1_ENST00000472281.1_5'UTR	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	238			Q -> P (in dbSNP:rs35366884). {ECO:0000269|Ref.4}.		glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)	p.Q238H(1)		breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		CATAGGGGAACTGCTGGCGGG	0.612																																																	1	Substitution - Missense(1)	kidney(1)											81.0	81.0	81.0					9																	136029294		2203	4300	6503	SO:0001583	missense	26301			AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.714G>C	9.37:g.136029294C>G	ENSP00000361110:p.Gln238His	Somatic		WXS	Illumina HiSeq	Phase_I	A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	CCDS6960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.42|15.42	2.827753|2.827753	0.50845|0.50845	.|.	.|.	ENSG00000148288|ENSG00000148288	ENST00000372040;ENST00000540636|ENST00000372043	T;T|T	0.01272|0.22336	5.07;5.07|1.96	5.47|5.47	-1.49|-1.49	0.08718|0.08718	.|.	0.342835|.	0.30686|.	N|.	0.009087|.	T|T	0.21022|0.21022	0.0506|0.0506	L|L	0.57536|0.57536	1.79|1.79	0.22811|0.22811	N|N	0.998707|0.998707	B;B|.	0.09022|.	0.002;0.002|.	B;B|.	0.12837|.	0.008;0.008|.	T|T	0.36432|0.36432	-0.9748|-0.9748	10|7	0.48119|0.87932	T|D	0.1|0	-6.752|-6.752	1.07|1.07	0.01619|0.01619	0.2278:0.3481:0.2232:0.2009|0.2278:0.3481:0.2232:0.2009	.|.	221;238|.	B7Z8S5;Q8N5D6|.	.;GBGT1_HUMAN|.	H|T	238;221|232	ENSP00000361110:Q238H;ENSP00000437663:Q221H|ENSP00000361113:S232T	ENSP00000361110:Q238H|ENSP00000361113:S232T	Q|S	-|-	3|2	2|0	GBGT1|GBGT1	135019115|135019115	0.000000|0.000000	0.05858|0.05858	0.986000|0.986000	0.45419|0.45419	0.797000|0.797000	0.45037|0.45037	-0.989000|-0.989000	0.03736|0.03736	-0.017000|-0.017000	0.14103|0.14103	-0.314000|-0.314000	0.08810|0.08810	CAG|AGT		0.612	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1		NM_021996	
GM2A	2760	broad.mit.edu	37	5	150646946	150646946	+	Silent	SNP	C	C	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr5:150646946C>T	ENST00000357164.3	+	4	841	c.516C>T	c.(514-516)agC>agT	p.S172S		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	172					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|learning or memory (GO:0007611)|lipid storage (GO:0019915)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	apical cortex (GO:0045179)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|mitochondrion (GO:0005739)	beta-N-acetylhexosaminidase activity (GO:0004563)|lipid transporter activity (GO:0005319)|phospholipase activator activity (GO:0016004)	p.S172S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCATAGAGAGCGTCCTGAGCA	0.577																																																	1	Substitution - coding silent(1)	kidney(1)											91.0	81.0	85.0					5																	150646946		2203	4300	6503	SO:0001819	synonymous_variant	2760				CCDS4313.1	5q33.1	2010-03-17	2004-05-20		ENSG00000196743	ENSG00000196743			4367	protein-coding gene	gene with protein product	"""cerebroside sulfate activator protein"", ""sphingolipid activator protein 3"""	613109	"""GM2 ganglioside activator protein"""			115863, 1915857	Standard	NM_000405		Approved	SAP-3	uc003ltr.4	P17900	OTTHUMG00000130124	ENST00000357164.3:c.516C>T	5.37:g.150646946C>T		Somatic		WXS	Illumina GAIIx	Phase_I	B2R699|D3DQH6|Q14426|Q14428|Q6LBL5	Silent	SNP	ENST00000357164.3	37	CCDS4313.1																																																																																				0.577	GM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252432.1		NM_000405	
GNB1L	54584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	19776236	19776236	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr22:19776236G>T	ENST00000329517.6	-	8	1216	c.980C>A	c.(979-981)gCa>gAa	p.A327E	GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Missense_Mutation_p.A327E|GNB1L_ENST00000460402.1_5'UTR	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	327					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)		p.A327E(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					GGTGAGTCATGCGCGTGGGTA	0.677																																																	1	Substitution - Missense(1)	kidney(1)											53.0	49.0	50.0					22																	19776236		2203	4299	6502	SO:0001583	missense	54584			AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"""WD repeat domain containing"""	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.980C>A	22.37:g.19776236G>T	ENSP00000331313:p.Ala327Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H2S2|Q9H4M4	Missense_Mutation	SNP	ENST00000329517.6	37	CCDS13768.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318888	0.41096	.	.	ENSG00000185838	ENST00000329517;ENST00000403325	T;T	0.39787	1.06;1.06	5.23	-2.93	0.05598	WD40-repeat-containing domain (1);	4.758170	0.03859	U	0.273664	T	0.29976	0.0750	L	0.33668	1.02	0.09310	N	0.999999	B	0.15141	0.012	B	0.14578	0.011	T	0.35624	-0.9781	10	0.66056	D	0.02	-20.8179	4.28	0.10827	0.1348:0.3439:0.4043:0.117	.	327	Q9BYB4	GNB1L_HUMAN	E	327	ENSP00000331313:A327E;ENSP00000385154:A327E	ENSP00000331313:A327E	A	-	2	0	GNB1L	18156236	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	1.010000	0.29898	-0.210000	0.10140	-0.211000	0.12701	GCA		0.677	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1			
GPHN	10243	hgsc.bcm.edu;ucsc.edu	37	14	67390942	67390943	+	Intron	INS	-	-	C			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr14:67390942_67390943insC	ENST00000315266.5	+	7	1850				GPHN_ENST00000543237.1_Intron|GPHN_ENST00000478722.1_Frame_Shift_Ins_p.M255fs|GPHN_ENST00000459628.1_Frame_Shift_Ins_p.M237fs|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Intron	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin						establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		CCTGCTGTTGTCATGGCACACG	0.411			T	MLL	AL																																			Dom	yes		14	14q24	10243	gephyrin (GPH)		L	0																																										SO:0001627	intron_variant	10243			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.729+1287->C	14.37:g.67390943_67390943dupC		Somatic		WXS	Illumina HiSeq	Phase_I	Q9H4E9|Q9P2G2	Frame_Shift_Ins	INS	ENST00000315266.5	37	CCDS32103.1																																																																																				0.411	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2		NM_020806	
GREB1	9687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	11772090	11772090	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr2:11772090A>G	ENST00000381486.2	+	27	4967	c.4667A>G	c.(4666-4668)cAt>cGt	p.H1556R	GREB1_ENST00000396123.1_Missense_Mutation_p.H554R|GREB1_ENST00000234142.5_Missense_Mutation_p.H1556R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1556						integral component of membrane (GO:0016021)		p.H1556R(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGTCACGAACATGGGCTCTTT	0.458																																					Ovarian(39;850 945 2785 23371 33093)												1	Substitution - Missense(1)	kidney(1)											101.0	99.0	100.0					2																	11772090		1944	4138	6082	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4667A>G	2.37:g.11772090A>G	ENSP00000370896:p.His1556Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.029393	0.75504	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.49432	0.78;0.78;0.78	5.48	5.48	0.80851	.	0.093220	0.64402	D	0.000001	T	0.66356	0.2781	M	0.72118	2.19	0.80722	D	1	D	0.58970	0.984	D	0.63488	0.915	T	0.69997	-0.4993	10	0.66056	D	0.02	-27.4157	15.552	0.76161	1.0:0.0:0.0:0.0	.	1556	Q4ZG55	GREB1_HUMAN	R	1556;1556;554	ENSP00000370896:H1556R;ENSP00000234142:H1556R;ENSP00000379429:H554R	ENSP00000234142:H1556R	H	+	2	0	GREB1	11689541	1.000000	0.71417	0.983000	0.44433	0.599000	0.36880	8.837000	0.92110	2.079000	0.62486	0.455000	0.32223	CAT		0.458	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1		NM_014668	
HMHA1	23526	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1074198	1074198	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr19:1074198A>T	ENST00000313093.2	+	7	1117	c.886A>T	c.(886-888)Atg>Ttg	p.M296L	HMHA1_ENST00000586866.1_Missense_Mutation_p.M300L|HMHA1_ENST00000539243.2_Missense_Mutation_p.M312L|HMHA1_ENST00000543365.1_Missense_Mutation_p.M179L|HMHA1_ENST00000536472.1_Missense_Mutation_p.M136L|HMHA1_ENST00000590214.1_Missense_Mutation_p.M323L	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	296					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)	p.M296L(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCAAGTACATGAAGGACCT	0.642																																																	1	Substitution - Missense(1)	kidney(1)											76.0	63.0	67.0					19																	1074198		2203	4300	6503	SO:0001583	missense	23526			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.886A>T	19.37:g.1074198A>T	ENSP00000316772:p.Met296Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	A	7.281	0.609044	0.14066	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	4.3	4.3	0.51218	Fps/Fes/Fer/CIP4 homology (1);	0.106321	0.64402	D	0.000011	T	0.24661	0.0598	L	0.33485	1.01	0.35485	D	0.79849	B;B;B;B	0.15930	0.012;0.015;0.001;0.009	B;B;B;B	0.12156	0.006;0.007;0.003;0.003	T	0.21586	-1.0241	10	0.21014	T	0.42	-44.1769	8.7552	0.34641	0.8086:0.1914:0.0:0.0	.	136;312;179;296	F5H4A3;F6QP70;F5H1R4;Q92619	.;.;.;HMHA1_HUMAN	L	312;296;296;136;290;179	ENSP00000439601:M312L;ENSP00000316772:M296L;ENSP00000445109:M136L;ENSP00000438979:M179L	ENSP00000316772:M296L	M	+	1	0	HMHA1	1025198	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.356000	0.66052	1.577000	0.49804	0.402000	0.26972	ATG		0.642	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			
IL3	3562	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	131396700	131396700	+	Splice_Site	SNP	T	T	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr5:131396700T>A	ENST00000296870.2	+	2	381	c.203T>A	c.(202-204)aTg>aAg	p.M68K		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3	68					cell-cell signaling (GO:0007267)|embryonic hemopoiesis (GO:0035162)|immune response (GO:0006955)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-3 receptor binding (GO:0005135)	p.M68K(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	GACATTCTGATGGTAAGAGCT	0.522																																																	1	Substitution - Missense(1)	kidney(1)											116.0	102.0	107.0					5																	131396700		2203	4300	6503	SO:0001630	splice_region_variant	3562			M14743	CCDS4149.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000164399	ENSG00000164399		"""Interleukins and interleukin receptors"""	6011	protein-coding gene	gene with protein product	"""multilineage-colony-stimulating factor"", ""hematopoietic growth factor"", ""P-cell stimulating factor"", ""mast-cell growth factor"", ""colony-stimulating factor, multiple"""	147740	"""interleukin 3 (colony-stimulating factor, multiple)"""			3489530	Standard	NM_000588		Approved	IL-3, MULTI-CSF, MCGF, MGC79398, MGC79399	uc003kwe.1	P08700	OTTHUMG00000059640	ENST00000296870.2:c.204+1T>A	5.37:g.131396700T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6GS87	Missense_Mutation	SNP	ENST00000296870.2	37	CCDS4149.1	.	.	.	.	.	.	.	.	.	.	T	2.227	-0.377119	0.05000	.	.	ENSG00000164399	ENST00000296870	T	0.29917	1.55	4.54	-9.08	0.00720	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	2.341900	0.01230	N	0.008337	T	0.16471	0.0396	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16217	-1.0410	10	0.46703	T	0.11	5.9342	1.7457	0.02961	0.2924:0.2088:0.0821:0.4168	.	68	P08700	IL3_HUMAN	K	68	ENSP00000296870:M68K	ENSP00000296870:M68K	M	+	2	0	IL3	131424599	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-6.999000	0.00047	-5.022000	0.00024	-1.385000	0.01166	ATG		0.522	IL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132639.1		NM_000588	Missense_Mutation
JMJD1C	221037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	64936178	64936178	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr10:64936178T>A	ENST00000399262.2	-	24	7498	c.7280A>T	c.(7279-7281)cAa>cTa	p.Q2427L	JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.Q2245L|JMJD1C_ENST00000402544.1_Missense_Mutation_p.Q2190L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2427	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.Q2427L(1)|p.Q2190L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATACCAACTTTGGTCACGTAT	0.363																																																	2	Substitution - Missense(2)	kidney(2)											132.0	120.0	123.0					10																	64936178		1855	4087	5942	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.7280A>T	10.37:g.64936178T>A	ENSP00000382204:p.Gln2427Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.351460	0.82132	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	T;T;T	0.72282	-0.64;-0.64;-0.64	5.75	4.61	0.57282	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	T	0.77136	0.4086	L	0.52126	1.63	0.80722	D	1	D;D	0.60160	0.985;0.987	P;P	0.60012	0.725;0.867	T	0.78580	-0.2149	10	0.87932	D	0	-6.5814	12.796	0.57560	0.0:0.0:0.1369:0.8631	.	2427;2245	Q15652;A0T124	JHD2C_HUMAN;.	L	2427;2190;2245	ENSP00000382204:Q2427L;ENSP00000384990:Q2190L;ENSP00000444682:Q2245L	ENSP00000382204:Q2427L	Q	-	2	0	JMJD1C	64606184	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	4.194000	0.58393	0.982000	0.38575	0.533000	0.62120	CAA		0.363	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2		NM_004241	
KIF21B	23046	hgsc.bcm.edu;ucsc.edu	37	1	200956041	200956046	+	Splice_Site	DEL	CTAGGG	CTAGGG	-			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	CTAGGG	CTAGGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr1:200956041_200956046delCTAGGG	ENST00000422435.2	-	26	3931_3936	c.3615_3620delCCCTAG	c.(3613-3621)ttccctagg>ttg	p.1205_1207FPR>L	KIF21B_ENST00000360529.5_Splice_Site_p.1205_1207FPR>L|KIF21B_ENST00000332129.2_Splice_Site_p.1205_1207FPR>L|KIF21B_ENST00000461742.2_Splice_Site_p.1205_1207FPR>L	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1205					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCGAGATTGCCTAGGGCTACAACAGA	0.573																																																	0																																										SO:0001630	splice_region_variant	23046			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3615-1CCCTAG>-	1.37:g.200956041_200956046delCTAGGG		Somatic		WXS	Illumina HiSeq	Phase_I	B2RP62|B7ZMI0|Q5T4J3	In_Frame_Del	DEL	ENST00000422435.2	37	CCDS58056.1																																																																																				0.573	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1		XM_371332	In_Frame_Del
KLHL15	80311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	24006422	24006422	+	Silent	SNP	C	C	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chrX:24006422C>A	ENST00000328046.8	-	4	1686	c.1431G>T	c.(1429-1431)gcG>gcT	p.A477A		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	477					protein ubiquitination (GO:0016567)			p.A477A(1)		autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GAAAGCATCTCGCGTAATTCA	0.468																																																	1	Substitution - coding silent(1)	kidney(1)											191.0	171.0	177.0					X																	24006422		2203	4300	6503	SO:0001819	synonymous_variant	80311			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1431G>T	X.37:g.24006422C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Silent	SNP	ENST00000328046.8	37	CCDS35217.1																																																																																				0.468	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1		XM_040383	
KLHL38	340359	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	124664647	124664647	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr8:124664647C>G	ENST00000325995.7	-	1	543	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	174	BACK.							p.E174Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GCACAGAGCTCCTTCAGGTCG	0.557																																																	1	Substitution - Missense(1)	kidney(1)											55.0	56.0	56.0					8																	124664647		1994	4147	6141	SO:0001583	missense	340359				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.520G>C	8.37:g.124664647C>G	ENSP00000321475:p.Glu174Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669308	0.47677	.	.	ENSG00000175946	ENST00000325995	T	0.68903	-0.36	5.29	5.29	0.74685	BTB/Kelch-associated (2);	0.141194	0.64402	D	0.000005	T	0.57021	0.2025	L	0.28192	0.835	0.47698	D	0.999493	B	0.20459	0.045	B	0.20384	0.029	T	0.51108	-0.8747	10	0.32370	T	0.25	.	18.9124	0.92491	0.0:1.0:0.0:0.0	.	174	Q2WGJ6	KLH38_HUMAN	Q	174	ENSP00000321475:E174Q	ENSP00000321475:E174Q	E	-	1	0	KLHL38	124733828	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	7.739000	0.84976	2.480000	0.83734	0.491000	0.48974	GAG		0.557	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			
MAP6	4135	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	75298336	75298336	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr11:75298336T>C	ENST00000304771.3	-	4	2960	c.2210A>G	c.(2209-2211)aAt>aGt	p.N737S	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526689.1_5'Flank|MAP6_ENST00000526740.1_Missense_Mutation_p.N408S	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	737	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)		p.N737S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					ACGACCTTGATTCTTTGGAGG	0.502																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)												1	Substitution - Missense(1)	kidney(1)											156.0	158.0	157.0					11																	75298336		2200	4293	6493	SO:0001583	missense	4135			AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.2210A>G	11.37:g.75298336T>C	ENSP00000307093:p.Asn737Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	T	1.213	-0.629041	0.03610	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.45276	0.9	4.46	-1.32	0.09201	.	0.980175	0.08347	N	0.959938	T	0.25865	0.0630	L	0.48642	1.525	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.28073	-1.0055	10	0.09338	T	0.73	0.0803	0.8805	0.01233	0.1577:0.1893:0.3248:0.3283	.	737	Q96JE9	MAP6_HUMAN	S	737;408;408	ENSP00000307093:N737S	ENSP00000307093:N737S	N	-	2	0	MAP6	74975984	0.000000	0.05858	0.003000	0.11579	0.629000	0.37895	-0.769000	0.04710	-0.019000	0.14055	0.533000	0.62120	AAT		0.502	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1		NM_033063	
LAYN	143903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	111431066	111431066	+	Silent	SNP	G	G	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr11:111431066G>A	ENST00000375615.3	+	8	1217	c.1032G>A	c.(1030-1032)gtG>gtA	p.V344V	LAYN_ENST00000525126.1_3'UTR|LAYN_ENST00000436913.2_Silent_p.V191V|LAYN_ENST00000533265.1_3'UTR|LAYN_ENST00000375614.2_Silent_p.V336V	NM_001258390.1	NP_001245319.1	Q6UX15	LAYN_HUMAN	layilin	344	3 X 5 AA repeats of E-S-G-X-V.|Interaction with NF2. {ECO:0000250}.|Interaction with TLN1. {ECO:0000250}.			V -> M (in Ref. 5; AAH25407). {ECO:0000305}.		cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|ruffle (GO:0001726)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.V336V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	Hyaluronan(DB08818)	GTGGGTTTGTGACTCTGGTGA	0.478																																					Ovarian(17;551 586 12136 22082 22900)												1	Substitution - coding silent(1)	kidney(1)											149.0	129.0	136.0					11																	111431066		2201	4297	6498	SO:0001819	synonymous_variant	143903				CCDS31676.1, CCDS58178.1, CCDS58179.1	11q23.1	2006-02-09			ENSG00000204381	ENSG00000204381			29471	protein-coding gene	gene with protein product						15913605	Standard	NM_001258390		Approved	FLJ30977, FLJ31092	uc001plr.2	Q6UX15	OTTHUMG00000166721	ENST00000375615.3:c.1032G>A	11.37:g.111431066G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NJB0|B4DJU0|Q8TAY8|Q96NC5|Q96NF3	Silent	SNP	ENST00000375615.3	37	CCDS58178.1																																																																																				0.478	LAYN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391187.1		NM_178834	
MCHR2	84539	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	100395756	100395756	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr6:100395756G>T	ENST00000281806.2	-	3	588	c.274C>A	c.(274-276)Caa>Aaa	p.Q92K	MCHR2_ENST00000369212.2_Missense_Mutation_p.Q92K	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q92K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CGGGCCCATTGGTGAATAAGA	0.493																																																	1	Substitution - Missense(1)	kidney(1)											96.0	98.0	97.0					6																	100395756		2203	4300	6503	SO:0001583	missense	84539			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.274C>A	6.37:g.100395756G>T	ENSP00000281806:p.Gln92Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449182	0.84101	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.71461	-0.57;-0.57;-0.57	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000012	T	0.75946	0.3919	L	0.57536	1.79	0.40887	D	0.984042	D	0.76494	0.999	D	0.79108	0.992	T	0.75233	-0.3390	10	0.35671	T	0.21	.	15.9515	0.79843	0.0:0.0:1.0:0.0	.	92	Q969V1	MCHR2_HUMAN	K	92	ENSP00000403490:Q92K;ENSP00000281806:Q92K;ENSP00000358214:Q92K	ENSP00000281806:Q92K	Q	-	1	0	MCHR2	100502477	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.393000	0.66279	2.089000	0.63090	0.650000	0.86243	CAA		0.493	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2		NM_032503	
MME	4311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	154862150	154862150	+	Silent	SNP	C	C	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr3:154862150C>A	ENST00000460393.1	+	14	1440	c.1320C>A	c.(1318-1320)gtC>gtA	p.V440V	MME_ENST00000493237.1_Silent_p.V440V|MME_ENST00000492661.1_Silent_p.V440V|MME_ENST00000462745.1_Silent_p.V440V|MME_ENST00000360490.2_Silent_p.V440V	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	440					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.V440V(2)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GATTTGAGGTCGAGGATTTGA	0.343																																																	2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											90.0	93.0	92.0					3																	154862150		2203	4300	6503	SO:0001819	synonymous_variant	4311				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1320C>A	3.37:g.154862150C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	ENST00000460393.1	37	CCDS3172.1																																																																																				0.343	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1		NM_000902	
MTUS1	57509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	17612685	17612685	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr8:17612685G>T	ENST00000262102.6	-	2	856	c.632C>A	c.(631-633)tCc>tAc	p.S211Y	MTUS1_ENST00000519263.1_Missense_Mutation_p.S211Y|MTUS1_ENST00000381869.3_Missense_Mutation_p.S211Y|MTUS1_ENST00000381862.3_Missense_Mutation_p.S211Y	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	211					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S211Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		ATCAGAATGGGAAGATGTCCA	0.438																																																	1	Substitution - Missense(1)	kidney(1)											164.0	143.0	149.0					8																	17612685		1916	4125	6041	SO:0001583	missense	57509			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.632C>A	8.37:g.17612685G>T	ENSP00000262102:p.Ser211Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286522	0.59867	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.23552	2.84;2.92;2.84;1.9	4.42	2.64	0.31445	.	0.619577	0.15249	N	0.272432	T	0.25082	0.0609	L	0.27053	0.805	0.09310	N	1	D;P;P	0.54047	0.964;0.688;0.688	P;B;B	0.53185	0.72;0.428;0.428	T	0.05801	-1.0863	9	.	.	.	-1.0599	7.9638	0.30087	0.2682:0.0:0.7318:0.0	.	211;211;211	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	Y	211	ENSP00000371293:S211Y;ENSP00000262102:S211Y;ENSP00000430167:S211Y;ENSP00000371286:S211Y	.	S	-	2	0	MTUS1	17656965	0.026000	0.19158	0.005000	0.12908	0.646000	0.38490	1.042000	0.30303	0.810000	0.34279	0.563000	0.77884	TCC		0.438	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1		XM_372031	
MYH9	4627	broad.mit.edu;ucsc.edu	37	22	36723503	36723504	+	Intron	INS	-	-	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr22:36723503_36723504insA	ENST00000216181.5	-	4	749				MYH9_ENST00000401701.1_Intron	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle						actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GAGAAATACTTACGTGCACAAG	0.495			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0																																										SO:0001627	intron_variant	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.518+1->T	22.37:g.36723504_36723504dupA		Somatic		WXS	Illumina GAIIx	Phase_I	A8K6E4|O60805|Q60FE2|Q86T83	Splice_Site	INS	ENST00000216181.5	37	CCDS13927.1																																																																																				0.495	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3		NM_002473	
MYT1	4661	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	62850364	62850364	+	Silent	SNP	G	G	A	rs142303893		TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr20:62850364G>A	ENST00000328439.1	+	12	2311	c.1947G>A	c.(1945-1947)acG>acA	p.T649T	MYT1_ENST00000536311.1_Silent_p.T676T|MYT1_ENST00000360149.4_Silent_p.T351T	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T649T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACCTCAGCACGAAGCCACAGG	0.587																																					GBM(59;481 1041 20555 21139 33705)												1	Substitution - coding silent(1)	kidney(1)						G		2,4404	6.2+/-15.9	0,2,2201	56.0	44.0	48.0		1947	-10.7	0.9	20	dbSNP_134	48	0,8600		0,0,4300	no	coding-synonymous	MYT1	NM_004535.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		649/1122	62850364	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4661			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1947G>A	20.37:g.62850364G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	CCDS13558.1																																																																																				0.587	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1		NM_004535	
NDUFA13	51079	broad.mit.edu	37	19	19627139	19627139	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr19:19627139C>T	ENST00000507754.4	+	1	576	c.92C>T	c.(91-93)tCg>tTg	p.S31L	CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.S31L|NDUFA13_ENST00000503283.1_Missense_Mutation_p.S31L|NDUFA13_ENST00000428459.2_Missense_Mutation_p.S31L|CTC-260F20.3_ENST00000586674.1_3'UTR|TSSK6_ENST00000360913.3_5'Flank|TSSK6_ENST00000585580.3_5'Flank|YJEFN3_ENST00000608404.1_Missense_Mutation_p.S31L|NDUFA13_ENST00000512771.3_Missense_Mutation_p.S31L|NDUFA13_ENST00000252576.5_Missense_Mutation_p.S114L			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	31					apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)	p.S114L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CGAGGACTGTCGGGTCAGTAT	0.667																																																	1	Substitution - Missense(1)	kidney(1)											25.0	28.0	27.0					19																	19627139		2202	4298	6500	SO:0001583	missense	51079			AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.92C>T	19.37:g.19627139C>T	ENSP00000423673:p.Ser31Leu	Somatic		WXS	Illumina GAIIx	Phase_I	B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959953	0.92791	.	.	ENSG00000186010;ENSG00000186010;ENSG00000250067;ENSG00000258674	ENST00000507754;ENST00000252576;ENST00000553705;ENST00000555938	T;T;T	0.79554	-1.28;-1.28;-1.28	5.3	5.3	0.74995	.	0.236704	0.36234	N	0.002703	D	0.90872	0.7132	M	0.91038	3.17	0.26112	N	0.980661	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.987;0.943	D	0.85411	0.1137	10	0.72032	D	0.01	.	12.281	0.54762	0.0:0.829:0.171:0.0	.	31;31;31	E7ENQ6;B4DF76;Q9P0J0	.;.;NDUAD_HUMAN	L	31;114;31;31	ENSP00000423673:S31L;ENSP00000252576:S114L;ENSP00000452549:S31L	ENSP00000252576:S114L	S	+	2	0	YJEFN3;NDUFA13;CTC-260F20.3	19488139	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	4.448000	0.60027	2.504000	0.84457	0.650000	0.86243	TCG		0.667	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6		NM_015965	
NLRP9	338321	broad.mit.edu;hgsc.bcm.edu	37	19	56244059	56244059	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr19:56244059T>A	ENST00000332836.2	-	2	1165	c.1138A>T	c.(1138-1140)Agt>Tgt	p.S380C		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	380	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.S380C(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAACTCTGACTTCCTGCTTTG	0.418																																																	1	Substitution - Missense(1)	kidney(1)											94.0	95.0	95.0					19																	56244059		2202	4300	6502	SO:0001583	missense	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1138A>T	19.37:g.56244059T>A	ENSP00000331857:p.Ser380Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	T	2.964	-0.214004	0.06101	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	D	0.84298	-1.83	2.56	-5.13	0.02884	.	.	.	.	.	T	0.74786	0.3762	L	0.52573	1.65	0.09310	N	1	B	0.17465	0.022	B	0.17979	0.02	T	0.55055	-0.8200	9	0.39692	T	0.17	.	2.2034	0.03929	0.2708:0.42:0.1371:0.1722	.	380	Q7RTR0	NALP9_HUMAN	C	380	ENSP00000331857:S380C	ENSP00000331857:S380C	S	-	1	0	NLRP9	60935871	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.255000	0.01182	-2.373000	0.00600	-0.269000	0.10298	AGT		0.418	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1		NM_176820	
NMRAL1	57407	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4511892	4511892	+	Silent	SNP	G	G	A	rs1043380		TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr16:4511892G>A	ENST00000574733.1	-	6	1518	c.789C>T	c.(787-789)ttC>ttT	p.F263F	NMRAL1_ENST00000404295.3_Silent_p.F263F|NMRAL1_ENST00000283429.6_Silent_p.F263F|NMRAL1_ENST00000574425.1_Silent_p.F263F|NMRAL1_ENST00000572391.1_5'Flank			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	263						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.F263F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						TCAGGGCATAGAAACGGAACA	0.602																																																	1	Substitution - coding silent(1)	kidney(1)											152.0	149.0	150.0					16																	4511892		2197	4300	6497	SO:0001819	synonymous_variant	57407			AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	24987	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 48A, member 1"""					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.789C>T	16.37:g.4511892G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000574733.1	37	CCDS10516.1																																																																																				0.602	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438579.1		NM_020677	
NUDT6	11162	broad.mit.edu	37	4	123843511	123843511	+	Missense_Mutation	SNP	C	C	T	rs202184714		TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr4:123843511C>T	ENST00000304430.5	-	1	250	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	NUDT6_ENST00000339154.2_Intron|SPATA5_ENST00000274008.4_5'Flank	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	73						mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)	p.A73T(1)		endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						TTCTGGAAGGCGGCAGCGTCC	0.667																																																	1	Substitution - Missense(1)	kidney(1)											12.0	15.0	14.0					4																	123843511		1967	4141	6108	SO:0001583	missense	11162			AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"""Nudix motif containing"""	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.217G>A	4.37:g.123843511C>T	ENSP00000306070:p.Ala73Thr	Somatic		WXS	Illumina GAIIx	Phase_I	A8K756|O95097|Q9UQD9	Missense_Mutation	SNP	ENST00000304430.5	37	CCDS43268.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960183	0.74016	.	.	ENSG00000170917	ENST00000304430	T	0.23147	1.92	4.5	0.419	0.16438	.	0.357416	0.27912	N	0.017356	T	0.14399	0.0348	L	0.38838	1.175	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.14144	-1.0483	10	0.13108	T	0.6	-2.0913	5.6749	0.17743	0.1512:0.5745:0.0:0.2743	.	73	P53370	NUDT6_HUMAN	T	73	ENSP00000306070:A73T	ENSP00000306070:A73T	A	-	1	0	NUDT6	124062961	0.330000	0.24705	0.990000	0.47175	0.694000	0.40290	-0.521000	0.06245	0.140000	0.18849	0.561000	0.74099	GCC		0.667	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3		NM_007083	
NUP62	23636	hgsc.bcm.edu	37	19	50411672	50411673	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr19:50411672_50411673insG	ENST00000596217.1	-	2	3279_3280	c.1392_1393insC	c.(1390-1395)cccgccfs	p.A465fs	IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597029.1_Frame_Shift_Ins_p.A465fs|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000413454.1_Frame_Shift_Ins_p.A465fs|NUP62_ENST00000352066.3_Frame_Shift_Ins_p.A465fs|NUP62_ENST00000422090.2_Frame_Shift_Ins_p.A465fs|NUP62_ENST00000597723.1_Frame_Shift_Ins_p.A389fs			P37198	NUP62_HUMAN	nucleoporin 62kDa	465					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTGGTGTCGGCGGGGGCCCCGG	0.579																																																	0																																										SO:0001589	frameshift_variant	23636			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.1393dupC	19.37:g.50411677_50411677dupG	ENSP00000471191:p.Ala465fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Frame_Shift_Ins	INS	ENST00000596217.1	37	CCDS12788.1																																																																																				0.579	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1		NM_153719	
OLFML3	56944	hgsc.bcm.edu	37	1	114522961	114522962	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr1:114522961_114522962insG	ENST00000320334.4	+	2	196_197	c.122_123insG	c.(121-126)ctggccfs	p.A42fs	OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.A22fs|OLFML3_ENST00000369551.1_Frame_Shift_Ins_p.A22fs|OLFML3_ENST00000491700.1_3'UTR	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	42					multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGGAACGGCTGGCCCAGTGCC	0.604																																																	0																																										SO:0001589	frameshift_variant	56944			AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.124dupG	1.37:g.114522963_114522963dupG	ENSP00000322273:p.Ala42fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Frame_Shift_Ins	INS	ENST00000320334.4	37	CCDS870.1																																																																																				0.604	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1		NM_020190	
ONECUT1	3175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	53081592	53081592	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr15:53081592G>T	ENST00000305901.5	-	1	617	c.490C>A	c.(490-492)Ctc>Atc	p.L164I	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	164					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L164I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GGGGTATAGAGGTTATTCATG	0.657																																																	1	Substitution - Missense(1)	kidney(1)											50.0	63.0	58.0					15																	53081592		2194	4293	6487	SO:0001583	missense	3175			U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.490C>A	15.37:g.53081592G>T	ENSP00000302630:p.Leu164Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636652	0.47049	.	.	ENSG00000169856	ENST00000305901	T	0.50548	0.74	4.29	4.29	0.51040	.	0.000000	0.64402	D	0.000001	T	0.66645	0.2810	M	0.79475	2.455	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.70854	-0.4759	10	0.52906	T	0.07	-20.8087	15.5436	0.76077	0.0:0.0:1.0:0.0	.	164	Q9UBC0	HNF6_HUMAN	I	164	ENSP00000302630:L164I	ENSP00000302630:L164I	L	-	1	0	ONECUT1	50868884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.506000	0.81665	2.216000	0.71823	0.505000	0.49811	CTC		0.657	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52651339	52651339	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr3:52651339A>G	ENST00000296302.7	-	14	1758	c.1757T>C	c.(1756-1758)aTg>aCg	p.M586T	PBRM1_ENST00000394830.3_Missense_Mutation_p.M586T|PBRM1_ENST00000337303.4_Missense_Mutation_p.M586T|PBRM1_ENST00000356770.4_Missense_Mutation_p.M554T|PBRM1_ENST00000409057.1_Missense_Mutation_p.M586T|PBRM1_ENST00000409114.3_Missense_Mutation_p.M601T|PBRM1_ENST00000409767.1_Missense_Mutation_p.M601T|PBRM1_ENST00000410007.1_Missense_Mutation_p.M586T			Q86U86	PB1_HUMAN	polybromo 1	586	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.M586T(2)|p.M586K(2)|p.M554T(1)|p.M554K(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GTCTTCTATCATTCCCTCTTC	0.443			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	6	Substitution - Missense(6)	kidney(6)											118.0	107.0	111.0					3																	52651339		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1757T>C	3.37:g.52651339A>G	ENSP00000296302:p.Met586Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	A	17.27	3.347378	0.61183	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.84	5.84	0.93424	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	M	0.69185	2.1	0.80722	D	1	P;P;P;P;B;P;P;B;P	0.52842	0.772;0.866;0.8;0.608;0.322;0.866;0.809;0.299;0.956	P;P;D;P;B;P;P;B;D	0.72338	0.685;0.813;0.947;0.606;0.28;0.652;0.699;0.365;0.977	T	0.57154	-0.7860	10	0.72032	D	0.01	-18.2278	16.2167	0.82231	1.0:0.0:0.0:0.0	.	586;586;586;586;601;601;586;554;586	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	T	554;586;586;586;586;586;601;601;586;545	ENSP00000349213:M554T;ENSP00000378307:M586T;ENSP00000296302:M586T;ENSP00000338302:M586T;ENSP00000386593:M586T;ENSP00000386529:M586T;ENSP00000386643:M601T;ENSP00000386601:M601T;ENSP00000387775:M586T;ENSP00000397662:M545T	ENSP00000296302:M586T	M	-	2	0	PBRM1	52626379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.231000	0.72958	0.533000	0.62120	ATG		0.443	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PGF	5228	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	75416059	75416059	+	Splice_Site	SNP	C	C	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr14:75416059C>T	ENST00000405431.2	-	3	315		c.e3+1		PGF_ENST00000555567.1_Splice_Site|PGF_ENST00000553716.1_Splice_Site|PGF_ENST00000238607.6_Splice_Site			P49763	PLGF_HUMAN	placental growth factor						branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of morphogenesis of a branching structure (GO:0060688)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.?(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)	Aflibercept(DB08885)	TATGGACCTACCTGCATGGTG	0.627																																					GBM(127;389 2301 5452 48547)												1	Unknown(1)	kidney(1)											87.0	79.0	82.0					14																	75416059		2203	4300	6503	SO:0001630	splice_region_variant	5228			S72960	CCDS9835.1, CCDS55932.1, CCDS73664.1	14q24.3	2013-02-18	2008-03-20		ENSG00000119630	ENSG00000119630			8893	protein-coding gene	gene with protein product	"""placenta growth factor"""	601121	"""placental growth factor-like"", ""placental growth factor, vascular endothelial growth factor-related protein"""	PGFL		7681160	Standard	NM_002632		Approved	PLGF, PlGF-2, PlGF, SHGC-10760, D12S1900	uc001xqz.3	P49763	OTTHUMG00000171496	ENST00000405431.2:c.315+1G>A	14.37:g.75416059C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q07101|Q9BV78|Q9Y6S8	Splice_Site	SNP	ENST00000405431.2	37	CCDS9835.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977961	0.74360	.	.	ENSG00000119630	ENST00000555567;ENST00000553716;ENST00000238607;ENST00000405431	.	.	.	4.16	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.287	0.82725	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PGF	74485812	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	7.651000	0.83577	2.157000	0.67596	0.561000	0.74099	.		0.627	PGF-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414064.1		NM_002632	Intron
PIRT	644139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10728814	10728814	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr17:10728814T>A	ENST00000580256.2	-	2	787	c.149A>T	c.(148-150)gAa>gTa	p.E50V		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	50						integral component of membrane (GO:0016021)		p.E50V(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						GCGGTAGATTTCCCAGTTACT	0.597																																																	1	Substitution - Missense(1)	kidney(1)											54.0	57.0	56.0					17																	10728814		2058	4185	6243	SO:0001583	missense	644139			AK021549	CCDS45614.1	17p12	2010-06-04			ENSG00000233670	ENSG00000233670			37239	protein-coding gene	gene with protein product	"""phosphoinositide-interacting regulator of TRPV1"""	612068				18455988	Standard	NM_001101387		Approved		uc010col.3	P0C851		ENST00000580256.2:c.149A>T	17.37:g.10728814T>A	ENSP00000462046:p.Glu50Val	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z648	Missense_Mutation	SNP	ENST00000580256.2	37	CCDS45614.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.583976	0.86748	.	.	ENSG00000233670	ENST00000441732	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	T	0.62417	0.2426	N	0.24115	0.695	0.38949	D	0.95831	D	0.76494	0.999	D	0.68943	0.961	T	0.68557	-0.5377	8	0.72032	D	0.01	-20.0766	13.5458	0.61702	0.0:0.0:0.0:1.0	.	50	P0C851	PIRT_HUMAN	V	50	.	ENSP00000408936:E50V	E	-	2	0	PIRT	10669539	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	6.335000	0.72949	2.291000	0.77112	0.533000	0.62120	GAA		0.597	PIRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441078.2		NM_001101387	
PPP2R2B	5521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	146236091	146236091	+	Intron	SNP	T	T	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr5:146236091T>A	ENST00000394413.3	-	1	641				PPP2R2B_ENST00000394411.4_Intron|PPP2R2B_ENST00000504198.1_Intron|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.Y3F|PPP2R2B_ENST00000336640.6_Intron|PPP2R2B_ENST00000394414.1_Intron|PPP2R2B_ENST00000530902.1_Intron|PPP2R2B_ENST00000453001.1_Intron|PPP2R2B_ENST00000356826.3_Intron|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.Y3F|PPP2R2B_ENST00000394409.3_Intron			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta						apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.Y3F(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCATCTGGATAATTCATGCT	0.383																																																	1	Substitution - Missense(1)	kidney(1)											144.0	127.0	132.0					5																	146236091		1862	4097	5959	SO:0001627	intron_variant	5521			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.70+21473A>T	5.37:g.146236091T>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.456819	0.26161	.	.	ENSG00000156475	ENST00000508545;ENST00000394410	T;T	0.73363	-0.74;-0.74	4.66	2.33	0.28932	.	.	.	.	.	T	0.45955	0.1368	N	0.08118	0	0.18873	N	0.999981	B	0.02656	0.0	B	0.01281	0.0	T	0.37572	-0.9700	9	0.02654	T	1	.	5.6867	0.17807	0.0:0.2109:0.0:0.7891	.	3	G3V149	.	F	3	ENSP00000431320:Y3F;ENSP00000377932:Y3F	ENSP00000377932:Y3F	Y	-	2	0	AC011357.1	146216284	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	0.382000	0.20635	0.924000	0.37069	0.454000	0.30748	TAT		0.383	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2		NM_181678	
PRRC2B	84726	hgsc.bcm.edu;ucsc.edu	37	9	134323058	134323058	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr9:134323058C>G	ENST00000357304.4	+	8	1042	c.987C>G	c.(985-987)aaC>aaG	p.N329K	PRRC2B_ENST00000405995.1_Missense_Mutation_p.N329K|PRRC2B_ENST00000458550.1_Missense_Mutation_p.N329K|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	329							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GAAAAGAAAACAGGCTGGGAT	0.473																																																	0													15.0	17.0	16.0					9																	134323058		1864	4084	5948	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.987C>G	9.37:g.134323058C>G	ENSP00000349856:p.Asn329Lys	Somatic		WXS	Illumina HiSeq	Phase_I	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079998	0.36662	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550	T;T;T	0.02369	4.32;4.63;4.32	4.52	3.62	0.41486	.	0.178323	0.25854	U	0.027866	T	0.02610	0.0079	L	0.40543	1.245	0.80722	D	1	B	0.24483	0.104	B	0.19148	0.024	T	0.30736	-0.9968	10	0.06099	T	0.92	-2.9266	11.6248	0.51138	0.0:0.912:0.0:0.088	.	329	Q5JSZ5	PRC2B_HUMAN	K	329	ENSP00000384606:N329K;ENSP00000349856:N329K;ENSP00000398853:N329K	ENSP00000349856:N329K	N	+	3	2	PRRC2B	133312879	0.970000	0.33590	0.684000	0.30055	0.894000	0.52154	2.286000	0.43496	0.885000	0.36088	0.467000	0.42956	AAC		0.473	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				
RASA1	5921	broad.mit.edu	37	5	86564517	86564517	+	Silent	SNP	A	A	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr5:86564517A>G	ENST00000274376.6	+	1	813	c.249A>G	c.(247-249)ggA>ggG	p.G83G	RASA1_ENST00000512763.1_5'Flank|RASA1_ENST00000456692.2_5'Flank|RASA1_ENST00000506290.1_5'Flank	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	83					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.G83G(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CACTGGGGGGAGCTGGACTGA	0.662																																																	1	Substitution - coding silent(1)	kidney(1)											30.0	26.0	27.0					5																	86564517		2202	4300	6502	SO:0001819	synonymous_variant	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.249A>G	5.37:g.86564517A>G		Somatic		WXS	Illumina GAIIx	Phase_I	B2R6W3|Q9UDI1	Silent	SNP	ENST00000274376.6	37	CCDS34200.1																																																																																				0.662	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1		NM_002890	
RASSF2	9770	broad.mit.edu	37	20	4771138	4771138	+	Missense_Mutation	SNP	G	G	A	rs147789166		TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr20:4771138G>A	ENST00000379400.3	-	7	691	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.R166C	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	166				R -> C (in Ref. 4; BAD96370). {ECO:0000305}.	bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R166C(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						AAGCGGTGGCGTCTGATTCGC	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16648	0.0		0.0	False		,,,				2504	0.0				Melanoma(158;1891 3343 50738)												1	Substitution - Missense(1)	kidney(1)						G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	131.0	97.0	109.0		496,496	5.1	1.0	20	dbSNP_134	109	0,8600		0,0,4300	no	missense,missense	RASSF2	NM_014737.2,NM_170774.1	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	166/327,166/327	4771138	1,13005	2203	4300	6503	SO:0001583	missense	9770			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.496C>T	20.37:g.4771138G>A	ENSP00000368710:p.Arg166Cys	Somatic		WXS	Illumina GAIIx	Phase_I	A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	CCDS13083.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	25.9	4.683770	0.88639	2.27E-4	0.0	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.11495	2.77;2.77	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.36936	0.0985	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.19451	-1.0305	10	0.66056	D	0.02	.	17.2582	0.87063	0.0:0.0:1.0:0.0	.	166	P50749	RASF2_HUMAN	C	166	ENSP00000368710:R166C;ENSP00000368684:R166C	ENSP00000368684:R166C	R	-	1	0	RASSF2	4719138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.067000	0.71193	2.650000	0.89964	0.563000	0.77884	CGC		0.607	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1		NM_014737	
RC3H1	149041	hgsc.bcm.edu;ucsc.edu	37	1	173950062	173950074	+	Frame_Shift_Del	DEL	GAGTCATGTTCTC	GAGTCATGTTCTC	-			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	GAGTCATGTTCTC	GAGTCATGTTCTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr1:173950062_173950074delGAGTCATGTTCTC	ENST00000367696.2	-	6	1193_1205	c.842_854delGAGAACATGACTC	c.(841-855)cgagaacatgactccfs	p.REHDS281fs	RC3H1_ENST00000258349.4_Frame_Shift_Del_p.REHDS281fs|RC3H1_ENST00000367694.2_Frame_Shift_Del_p.REHDS281fs			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	281					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CACTATCTGGGAGTCATGTTCTCGCCGCAGAGC	0.432																																																	0																																										SO:0001589	frameshift_variant	149041			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.842_854delGAGAACATGACTC	1.37:g.173950062_173950074delGAGTCATGTTCTC	ENSP00000356669:p.Arg281fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Frame_Shift_Del	DEL	ENST00000367696.2	37	CCDS30940.1																																																																																				0.432	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2		NM_172071	
ROCK1	6093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	18549140	18549140	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr18:18549140T>G	ENST00000399799.2	-	24	3790	c.2850A>C	c.(2848-2850)aaA>aaC	p.K950N		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	950	Glu-rich.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K950N(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTTCAATATCTTTGGTTAGCA	0.338																																																	1	Substitution - Missense(1)	kidney(1)											158.0	151.0	153.0					18																	18549140		2203	4299	6502	SO:0001583	missense	6093				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.2850A>C	18.37:g.18549140T>G	ENSP00000382697:p.Lys950Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	17.06	3.291818	0.59976	.	.	ENSG00000067900	ENST00000399799	T	0.14893	2.47	5.45	3.05	0.35203	Rho Binding (2);	0.047041	0.85682	D	0.000000	T	0.16981	0.0408	L	0.60845	1.875	0.80722	D	1	B	0.28026	0.198	B	0.32090	0.14	T	0.03875	-1.0996	10	0.32370	T	0.25	.	7.2885	0.26352	0.1295:0.0697:0.0:0.8008	.	950	Q13464	ROCK1_HUMAN	N	950	ENSP00000382697:K950N	ENSP00000382697:K950N	K	-	3	2	ROCK1	16803138	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	1.794000	0.38774	0.498000	0.27948	0.533000	0.62120	AAA		0.338	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2		NM_005406	
RPL22	6146	broad.mit.edu;hgsc.bcm.edu	37	1	6246862	6246862	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr1:6246862A>G	ENST00000234875.4	-	4	295	c.257T>C	c.(256-258)cTc>cCc	p.L86P	RPL22_ENST00000484532.1_Intron|RPL22_ENST00000497965.1_Missense_Mutation_p.L53P	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	86					alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.L86P(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TTTTTTGGTGAGATATTTCAA	0.368			T	RUNX1	"""AML, CML"""																																			Dom	yes		1	1p36.31	6146	ribosomal protein L22 (EAP)		L	1	Substitution - Missense(1)	kidney(1)											42.0	43.0	42.0					1																	6246862		2203	4299	6502	SO:0001583	missense	6146			BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.257T>C	1.37:g.6246862A>G	ENSP00000346088:p.Leu86Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B2R495|Q6IBD1	Missense_Mutation	SNP	ENST00000234875.4	37	CCDS58.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.287530	0.80803	.	.	ENSG00000116251	ENST00000234875	T	0.65916	-0.18	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.83487	0.5265	H	0.94964	3.605	0.80722	D	1	D	0.67145	0.996	D	0.63877	0.919	D	0.88419	0.3027	10	0.72032	D	0.01	-21.7793	15.4654	0.75397	1.0:0.0:0.0:0.0	.	86	P35268	RL22_HUMAN	P	86	ENSP00000346088:L86P	ENSP00000346088:L86P	L	-	2	0	RPL22	6169449	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.158000	0.94723	2.049000	0.60858	0.379000	0.24179	CTC		0.368	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002830.1		NM_000983	
SETD2	29072	hgsc.bcm.edu;ucsc.edu	37	3	47058645	47058646	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr3:47058645_47058646insA	ENST00000409792.3	-	21	7674_7675	c.7632_7633insT	c.(7630-7635)attaagfs	p.K2545fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2545	Interaction with POLR2A.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATGTACTTCTTAATGTACTCCT	0.46			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001589	frameshift_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.7633dupT	3.37:g.47058647_47058647dupA	ENSP00000386759:p.Lys2545fs	Somatic		WXS	Illumina HiSeq	Phase_I	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	INS	ENST00000409792.3	37	CCDS2749.2																																																																																				0.460	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
SH2D7	646892	broad.mit.edu	37	15	78393441	78393441	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr15:78393441G>T	ENST00000328828.5	+	5	846	c.846G>T	c.(844-846)agG>agT	p.R282S	SH2D7_ENST00000409568.2_Missense_Mutation_p.R146S	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	282								p.R282S(1)|p.R146S(1)		endometrium(2)|kidney(2)|lung(3)	7						AGGCCCAAAGGAGACTCTCAG	0.647																																																	2	Substitution - Missense(2)	kidney(2)											23.0	26.0	25.0					15																	78393441		1908	4115	6023	SO:0001583	missense	646892				CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"""SH2 domain containing"""	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.846G>T	15.37:g.78393441G>T	ENSP00000327846:p.Arg282Ser	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000328828.5	37	CCDS45315.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322407	0.60634	.	.	ENSG00000183476	ENST00000409568;ENST00000328828	T;T	0.37752	1.18;1.33	4.96	0.875	0.19130	.	0.599152	0.14111	N	0.340681	T	0.20333	0.0489	L	0.27053	0.805	0.09310	N	1	P	0.37781	0.608	B	0.32864	0.154	T	0.09487	-1.0672	10	0.33141	T	0.24	-5.6774	7.82	0.29282	0.3695:0.0:0.6305:0.0	.	282	A6NKC9	SH2D7_HUMAN	S	146;282	ENSP00000386676:R146S;ENSP00000327846:R282S	ENSP00000327846:R282S	R	+	3	2	SH2D7	76180496	0.049000	0.20398	0.002000	0.10522	0.922000	0.55478	0.973000	0.29422	0.226000	0.20979	0.561000	0.74099	AGG		0.647	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000334660.2		NM_001101404	
SH3KBP1	30011	hgsc.bcm.edu	37	X	19560246	19560247	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chrX:19560246_19560247insG	ENST00000397821.3	-	16	1978_1979	c.1688_1689insC	c.(1687-1689)ccafs	p.P563fs	SH3KBP1_ENST00000379716.1_Frame_Shift_Ins_p.P325fs|SH3KBP1_ENST00000541422.1_Frame_Shift_Ins_p.P302fs|SH3KBP1_ENST00000379698.4_Frame_Shift_Ins_p.P526fs	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	563					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						ACAGAGGGGCTGGCCCACCGCC	0.653																																																	0																																										SO:0001589	frameshift_variant	30011			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1689dupC	X.37:g.19560248_19560248dupG	ENSP00000380921:p.Pro563fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Frame_Shift_Ins	INS	ENST00000397821.3	37	CCDS14193.1																																																																																				0.653	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1		NM_031892	
SIGLEC8	27181	hgsc.bcm.edu;ucsc.edu	37	19	51957520	51957520	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr19:51957520delC	ENST00000321424.3	-	6	1264	c.1198delG	c.(1198-1200)gatfs	p.D400fs	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000340550.5_Frame_Shift_Del_p.D307fs|SIGLEC8_ENST00000430817.1_Frame_Shift_Del_p.D291fs	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	400					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATGCCTGTATCCCCCACGCCC	0.592																																																	0													122.0	110.0	114.0					19																	51957520		2203	4300	6503	SO:0001589	frameshift_variant	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1198delG	19.37:g.51957520delC	ENSP00000321077:p.Asp400fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z728	Frame_Shift_Del	DEL	ENST00000321424.3	37	CCDS33086.1																																																																																				0.592	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2		NM_014442	
SLC22A8	9376	hgsc.bcm.edu;ucsc.edu	37	11	62762194	62762195	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr11:62762194_62762195insA	ENST00000336232.2	-	8	1170_1171	c.1035_1036insT	c.(1033-1038)gctatgfs	p.M346fs	SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000430500.2_Frame_Shift_Ins_p.M346fs|SLC22A8_ENST00000311438.8_Frame_Shift_Ins_p.M346fs|SLC22A8_ENST00000545207.1_Frame_Shift_Ins_p.M255fs|SLC22A8_ENST00000535878.1_Frame_Shift_Ins_p.M223fs	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	346					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)			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)	TCCACACCCATAGCCAAACTAT	0.51																																																	0																																										SO:0001589	frameshift_variant	9376			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.1036dupT	11.37:g.62762195_62762195dupA	ENSP00000337335:p.Met346fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Frame_Shift_Ins	INS	ENST00000336232.2	37	CCDS8042.1																																																																																				0.510	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1		NM_004254	
SNX7	51375	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	99156689	99156689	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr1:99156689T>A	ENST00000306121.3	+	3	431	c.422T>A	c.(421-423)tTc>tAc	p.F141Y	SNX7_ENST00000529992.1_Missense_Mutation_p.F141Y|SNX7_ENST00000370189.5_Missense_Mutation_p.F77Y	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	77	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.F77Y(1)|p.F141Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TATCAAGATTTCCTTTGGTTG	0.358																																																	2	Substitution - Missense(2)	kidney(2)											93.0	90.0	91.0					1																	99156689		2203	4300	6503	SO:0001583	missense	51375			AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.422T>A	1.37:g.99156689T>A	ENSP00000304429:p.Phe141Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	CCDS755.2	.	.	.	.	.	.	.	.	.	.	T	29.4	5.006861	0.93287	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121;ENST00000454199	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.89931	0.6858	H	0.98802	4.335	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.93934	0.7217	10	0.87932	D	0	-21.3036	16.4781	0.84144	0.0:0.0:0.0:1.0	.	141;141;77	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	Y	77;141;141;77	ENSP00000359208:F77Y;ENSP00000434731:F141Y;ENSP00000304429:F141Y;ENSP00000388266:F77Y	ENSP00000304429:F141Y	F	+	2	0	SNX7	98929277	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.288000	0.76882	0.528000	0.53228	TTC		0.358	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			
SP8	221833	broad.mit.edu	37	7	20824941	20824943	+	In_Frame_Del	DEL	GCC	GCC	-	rs372591893	byFrequency	TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	GCC	GCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr7:20824941_20824943delGCC	ENST00000361443.4	-	3	676_678	c.439_441delGGC	c.(439-441)ggcdel	p.G147del	SP8_ENST00000418710.2_In_Frame_Del_p.G165del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	147					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|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.G165delG(1)|p.G147delG(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGAGGAgccgccgccgccg	0.729														461	0.0920527	0.0098	0.1124	5008	,	,		5525	0.002		0.2664	False		,,,				2504	0.1022																2	Deletion - In frame(2)	central_nervous_system(2)							,	50,654		19,12,321					,	0.5	0.3			2	602,1424		217,168,628	no	coding,coding	SP8	NM_198956.2,NM_182700.4	,	236,180,949	A1A1,A1R,RR		29.7137,7.1023,23.8828	,	,		652,2078				SO:0001651	inframe_deletion	221833				CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.439_441delGGC	7.37:g.20824950_20824952delGCC	ENSP00000354482:p.Gly147del	Somatic		WXS	Illumina GAIIx	Phase_I	Q7Z615|Q7Z616|Q96MJ1	In_Frame_Del	DEL	ENST00000361443.4	37	CCDS5372.1																																																																																				0.729	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			
SRP9	6726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	225971002	225971002	+	Splice_Site	SNP	G	G	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr1:225971002G>A	ENST00000304786.7	+	2	185	c.73G>A	c.(73-75)Gca>Aca	p.A25T	SRP9_ENST00000366839.4_Splice_Site_p.A25T|SRP9_ENST00000366838.1_Splice_Site_p.A25T	NM_003133.5	NP_003124.1	P49458	SRP09_HUMAN	signal recognition particle 9kDa	25					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|negative regulation of translational elongation (GO:0045900)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|signal recognition particle receptor complex (GO:0005785)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|RNA binding (GO:0003723)|signal recognition particle binding (GO:0005047)	p.A25T(1)		endometrium(1)|kidney(1)|skin(1)	3						TTTGTTTCAGGCACGTGTGGT	0.294																																																	1	Substitution - Missense(1)	kidney(1)											148.0	146.0	146.0					1																	225971002		2203	4297	6500	SO:0001630	splice_region_variant	6726			BC015094	CCDS1546.1, CCDS44323.1	1q42.12	2010-06-03	2002-08-29		ENSG00000143742	ENSG00000143742			11304	protein-coding gene	gene with protein product		600707	"""signal recognition particle 9kD"""			7730321	Standard	NM_001130440		Approved		uc001hpg.3	P49458	OTTHUMG00000037738	ENST00000304786.7:c.73-1G>A	1.37:g.225971002G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K0N0|Q6NVX0|Q8WTW0	Missense_Mutation	SNP	ENST00000304786.7	37	CCDS1546.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115639	0.37339	.	.	ENSG00000143742	ENST00000304786;ENST00000366839;ENST00000366838	.	.	.	5.77	5.77	0.91146	Signal recognition particle, SRP9/SRP14 subunit (2);	0.178109	0.37623	U	0.002006	T	0.49064	0.1535	.	.	.	0.37319	D	0.909466	B;B	0.30686	0.29;0.003	B;B	0.30782	0.12;0.013	T	0.49234	-0.8961	7	.	.	.	-2.811	18.1789	0.89771	0.0:0.0:1.0:0.0	.	25;25	P49458-2;P49458	.;SRP09_HUMAN	T	25	.	.	A	+	1	0	SRP9	224037625	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.904000	0.87408	2.724000	0.93272	0.561000	0.74099	GCA		0.294	SRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092054.1		NM_003133	Missense_Mutation
STAG3L2	442582	broad.mit.edu	37	7	74299903	74299903	+	RNA	DEL	C	C	-			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr7:74299903delC	ENST00000423186.1	-	0	1024							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GGGGTAGACGCTCTCACAGTC	0.502																																																	0													1.0	1.0	1.0					7																	74299903		736	1437	2173			442582					7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74299903delC		Somatic		WXS	Illumina GAIIx	Phase_I	A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	Frame_Shift_Del	DEL	ENST00000423186.1	37																																																																																					0.502	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2		NM_001025202	
UGT2A3	79799	broad.mit.edu;hgsc.bcm.edu	37	4	69817503	69817503	+	5'UTR	SNP	T	T	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr4:69817503T>A	ENST00000251566.4	-	0	6				UGT2A3_ENST00000420231.2_5'Flank	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3						cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CACACACTGATCTGCAATGGT	0.408																																																	0													27.0	26.0	26.0					4																	69817503		2203	4297	6500	SO:0001623	5_prime_UTR_variant	79799				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.-25A>T	4.37:g.69817503T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9H6S4	RNA	SNP	ENST00000251566.4	37	CCDS3525.1																																																																																				0.408	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1		NM_024743	
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	RNA	SNP	C	C	G	rs17857355	byFrequency	TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr2:114355998C>G	ENST00000538033.2	+	0	2178							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CCAAGGTGGGCACTTGATGTC	0.612																																																	0																																												375260					2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114355998C>G		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000538033.2	37																																																																																					0.612	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1		NM_198943	
ZNF333	84449	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	14829357	14829357	+	Silent	SNP	C	C	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr19:14829357C>T	ENST00000292530.6	+	12	1309	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S	ZNF333_ENST00000536363.1_Silent_p.S297S|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	406					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.S406S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TCAAATATTCCTCGAATCTCC	0.453																																					NSCLC(60;75 1281 16985 25154 29885)												1	Substitution - coding silent(1)	kidney(1)											55.0	53.0	54.0					19																	14829357		2203	4300	6503	SO:0001819	synonymous_variant	84449				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1218C>T	19.37:g.14829357C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6P2E6|Q86WS6|Q8TDL0	Silent	SNP	ENST00000292530.6	37	CCDS12316.1																																																																																				0.453	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1		NM_032433	
ZNF341	84905	broad.mit.edu;hgsc.bcm.edu	37	20	32379290	32379290	+	Silent	SNP	C	C	T	rs148919836		TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr20:32379290C>T	ENST00000375200.1	+	15	2897	c.2532C>T	c.(2530-2532)ctC>ctT	p.L844L	RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Silent_p.L837L|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	844					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.L837L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GTGCCATGCTCGCTGTGCCCG	0.672																																																	1	Substitution - coding silent(1)	kidney(1)						C		0,4406		0,0,2203	27.0	23.0	24.0		2511	-8.5	0.7	20	dbSNP_134	24	1,8597		0,1,4298	no	coding-synonymous	ZNF341	NM_032819.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		837/848	32379290	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	84905			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.2532C>T	20.37:g.32379290C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Silent	SNP	ENST00000375200.1	37																																																																																					0.672	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				
ZNF91	7644	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	23545331	23545331	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr19:23545331C>G	ENST00000300619.7	-	4	655	c.450G>C	c.(448-450)caG>caC	p.Q150H	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.Q118H	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	150					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q150H(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ATACTTTGCTCTGGGCAGTTG	0.318																																																	1	Substitution - Missense(1)	kidney(1)											74.0	78.0	77.0					19																	23545331		2154	4276	6430	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.450G>C	19.37:g.23545331C>G	ENSP00000300619:p.Gln150His	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	2.577	-0.298360	0.05532	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.05996	3.41;3.36	0.428	0.428	0.16499	.	.	.	.	.	T	0.11665	0.0284	L	0.46670	1.46	0.09310	N	1	P;D	0.58620	0.787;0.983	B;P	0.59948	0.248;0.866	T	0.30621	-0.9972	8	0.19590	T	0.45	.	.	.	.	.	118;150	Q05481-2;Q05481	.;ZNF91_HUMAN	H	150;118	ENSP00000300619:Q150H;ENSP00000380272:Q118H	ENSP00000300619:Q150H	Q	-	3	2	ZNF91	23337171	0.000000	0.05858	0.002000	0.10522	0.091000	0.18340	-0.420000	0.07062	0.436000	0.26393	0.174000	0.16983	CAG		0.318	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1		NM_003430	
ZNF584	201514	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	58921394	58921394	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr19:58921394T>G	ENST00000306910.4	+	2	628	c.105T>G	c.(103-105)aaT>aaG	p.N35K	ZNF584_ENST00000322834.7_Missense_Mutation_p.N27K|CTD-2619J13.14_ENST00000593393.1_lincRNA|ZNF584_ENST00000593920.1_De_novo_Start_OutOfFrame|ZNF584_ENST00000599238.1_De_novo_Start_OutOfFrame|ZNF584_ENST00000596921.1_Intron|ZNF584_ENST00000596281.1_Intron	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N35K(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		GGCTCCTTAATGTGACCCAGA	0.522																																																	1	Substitution - Missense(1)	kidney(1)											178.0	156.0	164.0					19																	58921394		2203	4300	6503	SO:0001583	missense	201514			AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"""Zinc fingers, C2H2-type"", ""-"""	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.105T>G	19.37:g.58921394T>G	ENSP00000306756:p.Asn35Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K203	Missense_Mutation	SNP	ENST00000306910.4	37	CCDS12979.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.038467	0.55003	.	.	ENSG00000171574	ENST00000306910;ENST00000322834	T;T	0.01804	4.63;4.63	3.92	2.83	0.33086	Krueppel-associated box (4);	.	.	.	.	T	0.02688	0.0081	L	0.50847	1.595	0.09310	N	1	P;B	0.44690	0.841;0.058	P;B	0.46076	0.503;0.025	T	0.45585	-0.9251	9	0.62326	D	0.03	.	2.3753	0.04340	0.2419:0.1365:0.0:0.6216	.	27;35	F6W0P0;Q8IVC4	.;ZN584_HUMAN	K	35;27	ENSP00000306756:N35K;ENSP00000320731:N27K	ENSP00000306756:N35K	N	+	3	2	ZNF584	63613206	0.000000	0.05858	0.002000	0.10522	0.992000	0.81027	-1.927000	0.01561	1.668000	0.50843	0.454000	0.30748	AAT		0.522	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467022.1		NM_173548	
ZP4	57829	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	238048491	238048491	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr1:238048491C>A	ENST00000366570.4	-	9	1443	c.1285G>T	c.(1285-1287)Gtg>Ttg	p.V429L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	429	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.V429L(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGTTTCTCCACTGTAGGGTTC	0.532																																					NSCLC(166;160 2029 11600 18754 19936)												1	Substitution - Missense(1)	kidney(1)											88.0	91.0	90.0					1																	238048491		2203	4300	6503	SO:0001583	missense	57829			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1285G>T	1.37:g.238048491C>A	ENSP00000355529:p.Val429Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	C	5.632	0.301343	0.10678	.	.	ENSG00000116996	ENST00000366570	T	0.74209	-0.82	5.09	-7.04	0.01578	Zona pellucida sperm-binding protein (3);	2.733670	0.01388	N	0.013174	T	0.60958	0.2309	L	0.46741	1.465	0.09310	N	1	B	0.10296	0.003	B	0.16722	0.016	T	0.38243	-0.9670	10	0.25751	T	0.34	.	2.9815	0.05955	0.1038:0.1418:0.3069:0.4474	.	429	Q12836	ZP4_HUMAN	L	429	ENSP00000355529:V429L	ENSP00000355529:V429L	V	-	1	0	ZP4	236115114	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.298000	0.02756	-0.982000	0.03515	-0.840000	0.03056	GTG		0.532	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			
