#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
ABCA1	19	broad.mit.edu;ucsc.edu	37	9	107558370	107558370	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr9:107558370G>C	ENST00000374736.3	-	39	5740	c.5346C>G	c.(5344-5346)agC>agG	p.S1782R		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1782					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.S1782R(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGGTGGCCACGCTGCCATTAA	0.537																																																	1	Substitution - Missense(1)	kidney(1)											136.0	126.0	129.0					9																	107558370		2203	4300	6503	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5346C>G	9.37:g.107558370G>C	ENSP00000363868:p.Ser1782Arg	Somatic		WXS	Illumina GAIIx	Phase_I	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	g	14.74	2.626825	0.46840	.	.	ENSG00000165029	ENST00000374736	D	0.83591	-1.74	5.76	-8.4	0.00965	.	0.000000	0.85682	D	0.000000	D	0.90170	0.6928	M	0.86420	2.815	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.91358	0.5109	10	0.72032	D	0.01	.	20.7433	0.99720	0.4322:0.0:0.5678:0.0	.	1782	O95477	ABCA1_HUMAN	R	1782	ENSP00000363868:S1782R	ENSP00000363868:S1782R	S	-	3	2	ABCA1	106598191	0.000000	0.05858	0.481000	0.27354	0.725000	0.41563	-1.350000	0.02624	-2.086000	0.00863	-3.307000	0.00045	AGC		0.537	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1		NM_005502	
ABCA2	20	broad.mit.edu;hgsc.bcm.edu	37	9	139909971	139909971	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr9:139909971C>A	ENST00000371605.3	-	23	3736	c.3589G>T	c.(3589-3591)Ggg>Tgg	p.G1197W	ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000341511.6_Missense_Mutation_p.G1198W|ABCA2_ENST00000265662.5_Missense_Mutation_p.G1198W			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1197	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)	p.G1198W(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TTGAGCTTCCCATGGGAGATG	0.667																																																	1	Substitution - Missense(1)	kidney(1)											39.0	43.0	41.0					9																	139909971		2199	4294	6493	SO:0001583	missense	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.3589G>T	9.37:g.139909971C>A	ENSP00000360666:p.Gly1197Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37		.	.	.	.	.	.	.	.	.	.	C	19.58	3.854167	0.71719	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.81499	-1.5;-1.5;-1.5	4.46	4.46	0.54185	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.059967	0.64402	U	0.000003	D	0.94483	0.8224	H	0.99425	4.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97354	0.9965	10	0.87932	D	0	.	16.704	0.85367	0.0:1.0:0.0:0.0	.	1197;1228	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	W	1198;1197;1228;1198	ENSP00000265662:G1198W;ENSP00000360666:G1197W;ENSP00000344155:G1198W	ENSP00000265662:G1198W	G	-	1	0	ABCA2	139029792	1.000000	0.71417	0.998000	0.56505	0.637000	0.38172	5.873000	0.69644	2.034000	0.60081	0.313000	0.20887	GGG		0.667	ABCA2-202	KNOWN	basic	protein_coding	protein_coding			NM_001606	
ANO4	121601	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	101504334	101504334	+	Splice_Site	SNP	G	G	C			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr12:101504334G>C	ENST00000392977.3	+	23	2512	c.2302G>C	c.(2302-2304)Gga>Cga	p.G768R	ANO4_ENST00000550015.1_Splice_Site_p.G288R|ANO4_ENST00000392979.3_Splice_Site_p.G733R|ANO4_ENST00000299222.9_Splice_Site_p.G288R			Q32M45	ANO4_HUMAN	anoctamin 4	768					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.G733R(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CAAAGACATAGGTAAGTTGGA	0.318										HNSCC(74;0.22)																																							1	Substitution - Missense(1)	kidney(1)											67.0	62.0	63.0					12																	101504334		2203	4300	6503	SO:0001630	splice_region_variant	121601			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2302+1G>C	12.37:g.101504334G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37		.	.	.	.	.	.	.	.	.	.	G	27.7	4.850874	0.91277	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000001	D	0.92388	0.7584	H	0.95850	3.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94306	0.7541	10	0.72032	D	0.01	.	19.4505	0.94865	0.0:0.0:1.0:0.0	.	288;768;733	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	R	733;288;768;288	ENSP00000376705:G733R;ENSP00000299222:G288R;ENSP00000376703:G768R;ENSP00000450192:G288R	ENSP00000299222:G288R	G	+	1	0	ANO4	100028465	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.869000	0.99810	2.597000	0.87782	0.655000	0.94253	GGA		0.318	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1		NM_178826	Missense_Mutation
ARID4A	5926	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	58831552	58831552	+	Silent	SNP	A	A	C			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr14:58831552A>C	ENST00000355431.3	+	20	3118	c.2745A>C	c.(2743-2745)atA>atC	p.I915I	ARID4A_ENST00000395168.3_Silent_p.I915I|ARID4A_ENST00000348476.3_Silent_p.I915I|ARID4A_ENST00000431317.2_Silent_p.I915I	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	915					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I915I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CATCATTGATAGCAGAGTCAA	0.363																																																	2	Substitution - coding silent(2)	kidney(2)											71.0	69.0	70.0					14																	58831552		2203	4299	6502	SO:0001819	synonymous_variant	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2745A>C	14.37:g.58831552A>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q15991|Q15992|Q15993	Silent	SNP	ENST00000355431.3	37	CCDS9732.1																																																																																				0.363	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2		NM_023001	
ATF7IP2	80063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	10525162	10525162	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr16:10525162G>T	ENST00000396560.2	+	3	912	c.685G>T	c.(685-687)Gtt>Ttt	p.V229F	ATF7IP2_ENST00000324570.5_Missense_Mutation_p.V229F|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.V229F|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.V229F	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.V229F(1)		large_intestine(3)	3						TTTTGTGCCTGTTGAGAAAAC	0.353																																																	1	Substitution - Missense(1)	kidney(1)											100.0	95.0	97.0					16																	10525162		2197	4300	6497	SO:0001583	missense	80063			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.685G>T	16.37:g.10525162G>T	ENSP00000379808:p.Val229Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451347	0.43531	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	4.73	0.367	0.16140	.	0.996046	0.08130	N	0.993361	T	0.25121	0.0610	N	0.22421	0.69	0.23076	N	0.998334	B;B	0.23249	0.082;0.048	B;B	0.21151	0.029;0.033	T	0.27468	-1.0073	10	0.52906	T	0.07	-0.3631	1.9131	0.03291	0.182:0.1572:0.4988:0.162	.	229;229	Q5U623-2;Q5U623	.;MCAF2_HUMAN	F	229	ENSP00000379807:V229F;ENSP00000379808:V229F;ENSP00000440791:V229F;ENSP00000348799:V229F;ENSP00000322811:V229F	ENSP00000322811:V229F	V	+	1	0	ATF7IP2	10432663	0.003000	0.15002	0.984000	0.44739	0.534000	0.34807	-0.355000	0.07671	-0.072000	0.12864	0.491000	0.48974	GTT		0.353	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1		NM_024997	
CCNJL	79616	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	159680467	159680467	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr5:159680467G>C	ENST00000393977.3	-	7	1511	c.1226C>G	c.(1225-1227)cCc>cGc	p.P409R	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.P361R	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	409						nucleus (GO:0005634)		p.P409R(1)		endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCAGTGCCTGGGCTCAGCTGC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											77.0	84.0	81.0					5																	159680467		2161	4264	6425	SO:0001583	missense	79616			BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.1226C>G	5.37:g.159680467G>C	ENSP00000377547:p.Pro409Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZN43|Q9H7W8	Missense_Mutation	SNP	ENST00000393977.3	37	CCDS4350.2	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858576	0.71834	.	.	ENSG00000135083	ENST00000393977;ENST00000257536	T;T	0.35048	1.73;1.33	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.55737	0.1939	L	0.55481	1.735	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.73380	0.944;0.98	T	0.52845	-0.8521	10	0.46703	T	0.11	-41.1382	17.0286	0.86454	0.0:0.0:1.0:0.0	.	361;409	B4DZA8;Q8IV13	.;CCNJL_HUMAN	R	409;361	ENSP00000377547:P409R;ENSP00000257536:P361R	ENSP00000257536:P361R	P	-	2	0	CCNJL	159613045	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	5.183000	0.65065	2.537000	0.85549	0.655000	0.94253	CCC		0.602	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1		NM_024565	
CHD7	55636	hgsc.bcm.edu	37	8	61777948	61777948	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr8:61777948A>G	ENST00000423902.2	+	38	8929	c.8450A>G	c.(8449-8451)aAt>aGt	p.N2817S	CHD7_ENST00000524602.1_Missense_Mutation_p.N768S	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2817					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.N2817I(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGGCTGTTGAATAACCCTCTG	0.557																																																	2	Substitution - Missense(2)	lung(2)											53.0	53.0	53.0					8																	61777948		2019	4171	6190	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.8450A>G	8.37:g.61777948A>G	ENSP00000392028:p.Asn2817Ser	Somatic		WXS	Illumina HiSeq	Phase_I	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.303884	0.23736	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602	D;T	0.81739	-1.53;2.03	5.25	5.25	0.73442	.	0.139657	0.48767	D	0.000169	T	0.68016	0.2955	L	0.36672	1.1	0.38552	D	0.94947	P	0.34662	0.462	B	0.23275	0.045	T	0.68443	-0.5407	10	0.12430	T	0.62	-21.3317	15.1443	0.72637	1.0:0.0:0.0:0.0	.	2817	Q9P2D1	CHD7_HUMAN	S	2817;2817;768	ENSP00000392028:N2817S;ENSP00000437061:N768S	ENSP00000307304:N2817S	N	+	2	0	CHD7	61940502	1.000000	0.71417	0.581000	0.28614	0.978000	0.69477	4.314000	0.59166	1.978000	0.57642	0.482000	0.46254	AAT		0.557	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2		XM_098762	
CLCN2	1181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	184064449	184064449	+	Missense_Mutation	SNP	C	C	T	rs199616806		TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr3:184064449C>T	ENST00000265593.4	-	24	2813	c.2642G>A	c.(2641-2643)cGt>cAt	p.R881H	CLCN2_ENST00000344937.7_Missense_Mutation_p.R864H|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.R852H|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.R837H	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	881					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)	p.R881H(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GAGGCCATGACGGGAGTGGGG	0.667																																																	1	Substitution - Missense(1)	kidney(1)											59.0	56.0	57.0					3																	184064449		2203	4300	6503	SO:0001583	missense	1181			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.2642G>A	3.37:g.184064449C>T	ENSP00000265593:p.Arg881His	Somatic		WXS	Illumina HiSeq	Phase_I	B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	10.45	1.352766	0.24512	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.85556	-1.89;-1.84;-1.94;-2.0	5.51	2.42	0.29668	.	0.634353	0.16741	N	0.201437	T	0.71787	0.3381	N	0.16478	0.41	0.80722	D	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001	B;B;B;B;B	0.06405	0.001;0.001;0.002;0.001;0.001	T	0.60954	-0.7160	10	0.31617	T	0.26	-7.5281	9.255	0.37577	0.0:0.6492:0.0:0.3508	.	837;852;864;881;837	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	H	881;864;837;852	ENSP00000265593:R881H;ENSP00000345056:R864H;ENSP00000400425:R837H;ENSP00000391928:R852H	ENSP00000265593:R881H	R	-	2	0	CLCN2	185547143	0.978000	0.34361	1.000000	0.80357	0.467000	0.32768	0.578000	0.23773	0.514000	0.28300	-0.126000	0.14955	CGT		0.667	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			
CLVS1	157807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	62212433	62212433	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr8:62212433G>T	ENST00000519846.1	+	3	519	c.47G>T	c.(46-48)tGg>tTg	p.W16L	CLVS1_ENST00000325897.4_Missense_Mutation_p.W16L|RP11-787D18.1_ENST00000521801.1_RNA|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	16					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.W16L(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TTAAACACTTGGAACGGAGAT	0.453																																																	1	Substitution - Missense(1)	kidney(1)											57.0	57.0	57.0					8																	62212433		2203	4300	6503	SO:0001583	missense	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.47G>T	8.37:g.62212433G>T	ENSP00000428402:p.Trp16Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	G	7.203	0.593954	0.13875	.	.	ENSG00000177182	ENST00000522621;ENST00000519846;ENST00000325897	T;T	0.78246	-1.16;-1.16	5.69	2.84	0.33178	.	0.842461	0.10876	N	0.624284	T	0.53530	0.1802	N	0.12182	0.205	0.38181	D	0.939617	B;B;B	0.24186	0.0;0.099;0.0	B;B;B	0.21917	0.0;0.037;0.001	T	0.42832	-0.9428	10	0.07482	T	0.82	4.8743	3.9066	0.09185	0.138:0.1312:0.5947:0.1362	.	16;16;16	E5RK22;Q8IUQ0;Q8IUQ0-2	.;CLVS1_HUMAN;.	L	16	ENSP00000428402:W16L;ENSP00000325506:W16L	ENSP00000325506:W16L	W	+	2	0	CLVS1	62374987	1.000000	0.71417	0.241000	0.24154	0.563000	0.35712	2.138000	0.42140	0.303000	0.22785	0.655000	0.94253	TGG		0.453	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1		NM_173519	
CSE1L	1434	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47682942	47682942	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr20:47682942C>A	ENST00000262982.2	+	5	494	c.371C>A	c.(370-372)cCa>cAa	p.P124Q	CSE1L_ENST00000542325.1_Intron|CSE1L_ENST00000396192.3_Missense_Mutation_p.P124Q	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	124					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)	p.P124Q(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GAAGATTTTCCACAGAAATGG	0.393																																																	1	Substitution - Missense(1)	kidney(1)											135.0	130.0	132.0					20																	47682942		2203	4300	6503	SO:0001583	missense	1434			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.371C>A	20.37:g.47682942C>A	ENSP00000262982:p.Pro124Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858716	0.91433	.	.	ENSG00000124207	ENST00000262982;ENST00000396192	T;T	0.74106	-0.81;-0.81	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90937	0.7151	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	D	0.93202	0.6592	10	0.87932	D	0	-13.5603	19.5362	0.95254	0.0:1.0:0.0:0.0	.	124;124	F8W904;P55060	.;XPO2_HUMAN	Q	124	ENSP00000262982:P124Q;ENSP00000379495:P124Q	ENSP00000262982:P124Q	P	+	2	0	CSE1L	47116349	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.818000	0.86416	2.607000	0.88179	0.557000	0.71058	CCA		0.393	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2		NM_001316	
CSPG4	1464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75977757	75977757	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr15:75977757G>C	ENST00000308508.5	-	4	4167	c.4075C>G	c.(4075-4077)Cca>Gca	p.P1359A		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1359	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.P1359A(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCCTCTAGTGGGATGGCAGCG	0.672																																																	1	Substitution - Missense(1)	kidney(1)											24.0	27.0	26.0					15																	75977757		2189	4290	6479	SO:0001583	missense	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.4075C>G	15.37:g.75977757G>C	ENSP00000312506:p.Pro1359Ala	Somatic		WXS	Illumina HiSeq	Phase_I	D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	19.95	3.922491	0.73213	.	.	ENSG00000173546	ENST00000308508	T	0.25912	1.77	4.76	4.76	0.60689	.	0.098603	0.43416	D	0.000569	T	0.46249	0.1383	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.37478	-0.9704	10	0.49607	T	0.09	.	17.1218	0.86704	0.0:0.0:1.0:0.0	.	1359	Q6UVK1	CSPG4_HUMAN	A	1359	ENSP00000312506:P1359A	ENSP00000312506:P1359A	P	-	1	0	CSPG4	73764812	1.000000	0.71417	0.977000	0.42913	0.625000	0.37756	8.259000	0.89855	2.356000	0.79943	0.505000	0.49811	CCA		0.672	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1		NM_001897	
DDX28	55794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	68055772	68055772	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr16:68055772T>C	ENST00000332395.5	-	1	1998	c.1334A>G	c.(1333-1335)aAg>aGg	p.K445R	DUS2_ENST00000565263.1_5'Flank|DUS2_ENST00000358896.6_5'Flank|DUS2_ENST00000432752.1_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	445	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.K445R(1)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TCGGGAGCTCTTCTGGAAGGA	0.522																																																	1	Substitution - Missense(1)	kidney(1)											79.0	75.0	76.0					16																	68055772		2198	4300	6498	SO:0001583	missense	55794			AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"""DEAD-boxes"""	17330	protein-coding gene	gene with protein product		607618	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"""			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.1334A>G	16.37:g.68055772T>C	ENSP00000332340:p.Lys445Arg	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000332395.5	37	CCDS10858.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.475165	0.43942	.	.	ENSG00000182810	ENST00000332395	T	0.76316	-1.01	5.81	5.81	0.92471	Helicase, C-terminal (3);	0.168937	0.49916	D	0.000122	T	0.60011	0.2236	N	0.05177	-0.1	0.35979	D	0.835891	B	0.06786	0.001	B	0.10450	0.005	T	0.61426	-0.7065	10	0.22706	T	0.39	-18.3377	15.8472	0.78901	0.0:0.0:0.0:1.0	.	445	Q9NUL7	DDX28_HUMAN	R	445	ENSP00000332340:K445R	ENSP00000332340:K445R	K	-	2	0	DDX28	66613273	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.952000	0.56691	2.221000	0.72209	0.455000	0.32223	AAG		0.522	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268883.1		NM_018380	
DNAH2	146754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7701105	7701105	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr17:7701105G>A	ENST00000572933.1	+	53	9648	c.8188G>A	c.(8188-8190)Gtg>Atg	p.V2730M	DNAH2_ENST00000389173.2_Missense_Mutation_p.V2730M			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2730	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V2730M(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACCCTCTGTCGTGCCCATGCA	0.522																																																	1	Substitution - Missense(1)	kidney(1)											161.0	140.0	147.0					17																	7701105		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8188G>A	17.37:g.7701105G>A	ENSP00000458355:p.Val2730Met	Somatic		WXS	Illumina HiSeq	Phase_I	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616369	0.66672	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.40756	1.02	4.84	4.84	0.62591	.	0.070956	0.56097	D	0.000034	T	0.61426	0.2346	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.66602	0.945	T	0.63400	-0.6646	10	0.52906	T	0.07	.	14.9697	0.71223	0.0:0.0:1.0:0.0	.	2730	Q9P225	DYH2_HUMAN	M	2730	ENSP00000373825:V2730M	ENSP00000353818:V2730M	V	+	1	0	DNAH2	7641830	1.000000	0.71417	0.938000	0.37757	0.369000	0.29798	6.206000	0.72154	2.519000	0.84933	0.650000	0.86243	GTG		0.522	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		NM_020877	
FGFR3	2261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	1804696	1804696	+	Intron	SNP	C	C	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr4:1804696C>A	ENST00000260795.2	+	7	1032				FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Intron|FGFR3_ENST00000340107.4_Nonsense_Mutation_p.S329*|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000440486.2_Intron			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3						alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.S329*(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GCCAATGTGTCGGAGCGGGAC	0.667		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																															Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"""L, E"""	1	Substitution - Nonsense(1)	kidney(1)											23.0	26.0	25.0					4																	1804696		1564	3579	5143	SO:0001627	intron_variant	2261	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.931-723C>A	4.37:g.1804696C>A		Somatic		WXS	Illumina HiSeq	Phase_I	D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Nonsense_Mutation	SNP	ENST00000260795.2	37	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	39	7.488904	0.98316	.	.	ENSG00000068078	ENST00000340107	.	.	.	4.08	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	16.4681	0.84090	0.0:1.0:0.0:0.0	.	.	.	.	X	329	.	ENSP00000339824:S329X	S	+	2	0	FGFR3	1774494	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.202000	0.77856	2.115000	0.64714	0.655000	0.94253	TCG		0.667	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142	
FKBP6	8468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	72745747	72745747	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr7:72745747C>T	ENST00000252037.4	+	5	625	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C	FKBP6_ENST00000431982.2_Missense_Mutation_p.R181C|FKBP6_ENST00000413573.2_Missense_Mutation_p.R156C	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	186					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R186C(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCGCCAGAATCGTTTCTATGA	0.423																																																	2	Substitution - Missense(2)	kidney(2)											103.0	100.0	101.0					7																	72745747		1862	4096	5958	SO:0001583	missense	8468			AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.556C>T	7.37:g.72745747C>T	ENSP00000252037:p.Arg186Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192615	0.38707	.	.	ENSG00000077800	ENST00000431982;ENST00000413573;ENST00000252037	T;T;T	0.75821	-0.97;-0.97;-0.97	5.46	5.46	0.80206	Tetratricopeptide-like helical (1);	0.239091	0.41605	D	0.000848	T	0.65186	0.2667	L	0.60455	1.87	0.80722	D	1	P;B;B	0.40180	0.705;0.258;0.381	B;B;B	0.31686	0.134;0.029;0.043	T	0.70274	-0.4917	10	0.72032	D	0.01	-11.454	8.6777	0.34189	0.1512:0.7706:0.0:0.0782	.	181;186;156	O75344-2;O75344;Q7Z4T4	.;FKBP6_HUMAN;.	C	181;156;186	ENSP00000416277:R181C;ENSP00000394952:R156C;ENSP00000252037:R186C	ENSP00000252037:R186C	R	+	1	0	FKBP6	72383683	0.118000	0.22208	0.944000	0.38274	0.739000	0.42172	2.097000	0.41748	2.573000	0.86826	0.655000	0.94253	CGT		0.423	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1		NM_003602	
GBA3	57733	broad.mit.edu;hgsc.bcm.edu	37	4	22820365	22820365	+	RNA	SNP	A	A	G	rs556093396		TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr4:22820365A>G	ENST00000503442.1	+	0	399				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000508264.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.N410S(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GATAAAGTCAATCTTCAAGTA	0.393													A|||	1	0.000199681	0.0	0.0014	5008	,	,		18490	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											66.0	59.0	61.0					4																	22820365		1846	4087	5933			57733			AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22820365A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37																																																																																					0.393	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			
GPR162	27239	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6936017	6936017	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr12:6936017A>T	ENST00000311268.3	+	5	2202	c.1415A>T	c.(1414-1416)gAa>gTa	p.E472V	GPR162_ENST00000428545.2_Missense_Mutation_p.E188V|LEPREL2_ENST00000251761.8_RNA|GPR162_ENST00000382315.3_Missense_Mutation_p.E168V|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	472						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E472V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GAAGAGGCTGAAGGTGGGGGG	0.662																																																	1	Substitution - Missense(1)	kidney(1)											50.0	64.0	59.0					12																	6936017		2203	4300	6503	SO:0001583	missense	27239			U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.1415A>T	12.37:g.6936017A>T	ENSP00000311528:p.Glu472Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	37	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.295525	0.40594	.	.	ENSG00000250510	ENST00000311268;ENST00000428545;ENST00000382315	T;T;T	0.47528	3.0;0.84;0.84	4.24	3.1	0.35709	.	.	.	.	.	T	0.25044	0.0608	N	0.08118	0	0.29402	N	0.861851	B;P	0.48911	0.077;0.917	B;B	0.41135	0.165;0.348	T	0.10730	-1.0617	9	0.72032	D	0.01	.	4.4758	0.11739	0.578:0.2317:0.1902:0.0	.	188;472	Q16538-2;Q16538	.;GP162_HUMAN	V	472;188;168	ENSP00000311528:E472V;ENSP00000399670:E188V;ENSP00000371752:E168V	ENSP00000311528:E472V	E	+	2	0	GPR162	6806278	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.224000	0.51238	0.969000	0.38237	0.459000	0.35465	GAA		0.662	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1		NM_019858	
HECTD2	143279	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	93258806	93258806	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr10:93258806G>A	ENST00000298068.5	+	18	1943	c.1849G>A	c.(1849-1851)Gta>Ata	p.V617I	HECTD2_ENST00000371667.1_Missense_Mutation_p.V267I|HECTD2_ENST00000446394.1_Missense_Mutation_p.V621I|HECTD2_ENST00000536715.1_Missense_Mutation_p.V206I	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	617	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.V617I(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TTCAGAATATGTACAGCTTTA	0.284																																					NSCLC(12;376 469 1699 39910 41417)												1	Substitution - Missense(1)	kidney(1)											93.0	91.0	92.0					10																	93258806		2202	4296	6498	SO:0001583	missense	143279			AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.1849G>A	10.37:g.93258806G>A	ENSP00000298068:p.Val617Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380301	0.82682	.	.	ENSG00000165338	ENST00000446394;ENST00000298068;ENST00000536715;ENST00000371667	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.96	5.06	0.68205	HECT (4);	0.059826	0.64402	N	0.000003	T	0.53658	0.1810	L	0.49126	1.545	0.58432	D	0.999991	B;D	0.52996	0.206;0.957	B;P	0.56823	0.232;0.807	T	0.55438	-0.8141	10	0.54805	T	0.06	.	15.1406	0.72607	0.0686:0.0:0.9314:0.0	.	621;617	E7ERR3;Q5U5R9	.;HECD2_HUMAN	I	621;617;206;267	ENSP00000401023:V621I;ENSP00000298068:V617I;ENSP00000439687:V206I;ENSP00000360731:V267I	ENSP00000298068:V617I	V	+	1	0	HECTD2	93248786	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.050000	0.71063	1.525000	0.49052	0.650000	0.86243	GTA		0.284	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			
HNRNPA2B1	3181	hgsc.bcm.edu	37	7	26235512	26235512	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr7:26235512G>T	ENST00000354667.4	-	8	880	c.712C>A	c.(712-714)Cgt>Agt	p.R238S	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.R226S	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	238	Gly-rich.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)	p.R238S(1)|p.R226S(1)	HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CCAAATCCACGTCCACTGCCA	0.388			T	ETV1	prostate																																			Dom	yes		7	7p15	3181	heterogeneous nuclear ribonucleoprotein A2/B1		E	2	Substitution - Missense(2)	kidney(2)											110.0	94.0	99.0					7																	26235512		2203	4300	6503	SO:0001583	missense	3181			D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.712C>A	7.37:g.26235512G>T	ENSP00000346694:p.Arg238Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A8K064|P22627|Q9UC98|Q9UDJ2	Missense_Mutation	SNP	ENST00000354667.4	37	CCDS43557.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.673609	0.29693	.	.	ENSG00000122566	ENST00000354667;ENST00000356674	D;D	0.85955	-2.05;-2.05	5.92	5.04	0.67666	.	0.000000	0.64402	D	0.000001	T	0.77850	0.4192	L	0.33189	0.99	0.34754	D	0.732108	B;B	0.19200	0.023;0.034	B;B	0.13407	0.009;0.007	T	0.76602	-0.2899	10	0.20046	T	0.44	.	14.8457	0.70259	0.0686:0.0:0.9313:0.0	.	226;238	P22626-2;P22626	.;ROA2_HUMAN	S	238;226	ENSP00000346694:R238S;ENSP00000349101:R226S	ENSP00000346694:R238S	R	-	1	0	HNRNPA2B1	26202037	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.841000	0.69409	1.493000	0.48517	0.650000	0.86243	CGT		0.388	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1		NM_002137	
IL17RC	84818	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	9960258	9960258	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr3:9960258G>T	ENST00000295981.3	+	5	861	c.643G>T	c.(643-645)Gtg>Ttg	p.V215L	IL17RC_ENST00000403601.3_Missense_Mutation_p.V144L|IL17RC_ENST00000383812.4_Missense_Mutation_p.V144L|IL17RC_ENST00000455057.1_Missense_Mutation_p.V144L|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000413608.1_Missense_Mutation_p.V144L|RNU6-882P_ENST00000391025.1_RNA|IL17RC_ENST00000416074.2_Missense_Mutation_p.V15L	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	215					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)	p.V215L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGAGGTGCAAGTGCCTGCTGC	0.502																																																	1	Substitution - Missense(1)	kidney(1)											91.0	85.0	87.0					3																	9960258		2203	4300	6503	SO:0001583	missense	84818			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.643G>T	3.37:g.9960258G>T	ENSP00000295981:p.Val215Leu	Somatic		WXS	Illumina HiSeq	Phase_I	E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059107	0.76074	.	.	ENSG00000163702	ENST00000383812;ENST00000438091;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47	5.12	5.12	0.69794	.	0.000000	0.48286	D	0.000184	T	0.39009	0.1062	M	0.66939	2.045	0.28048	N	0.933467	D;D;D;D;D;D;D;P;D	0.76494	0.999;0.977;0.999;0.999;0.985;0.985;0.999;0.894;0.994	D;P;D;D;P;P;D;P;P	0.78314	0.991;0.854;0.981;0.981;0.729;0.729;0.991;0.535;0.89	T	0.16928	-1.0386	10	0.45353	T	0.12	-20.4193	14.0618	0.64804	0.0:0.0:1.0:0.0	.	144;15;144;144;144;144;144;215;144	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;A8BWC9;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	L	144;119;215;119;144;15;144;144	ENSP00000373323:V144L;ENSP00000414609:V119L;ENSP00000295981:V215L;ENSP00000401128:V119L;ENSP00000384969:V144L;ENSP00000395315:V15L;ENSP00000407894:V144L;ENSP00000396064:V144L	ENSP00000295981:V215L	V	+	1	0	IL17RC	9935258	0.998000	0.40836	0.994000	0.49952	0.991000	0.79684	3.598000	0.54038	2.390000	0.81377	0.555000	0.69702	GTG		0.502	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2		NM_032732	
ILDR2	387597	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	166908755	166908755	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr1:166908755C>T	ENST00000271417.3	-	4	607	c.552G>A	c.(550-552)atG>atA	p.M184I	ILDR2_ENST00000528703.1_Missense_Mutation_p.M184I|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.M184I|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000529071.1_Intron|ILDR2_ENST00000526687.1_Missense_Mutation_p.M184I	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	184					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.M184I(1)		NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GAATACCTGGCATAATCTCCA	0.423																																																	1	Substitution - Missense(1)	kidney(1)											111.0	95.0	100.0					1																	166908755		2203	4300	6503	SO:0001583	missense	387597			AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.552G>A	1.37:g.166908755C>T	ENSP00000271417:p.Met184Ile	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000271417.3	37	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982259	0.74474	.	.	ENSG00000143195	ENST00000271417;ENST00000469934;ENST00000526687;ENST00000528703	T;T;T;T	0.77620	0.3;0.4;-1.11;-0.17	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.84871	0.5568	L	0.59436	1.845	0.58432	D	0.999995	D	0.63880	0.993	D	0.70227	0.968	T	0.83253	-0.0052	10	0.52906	T	0.07	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	184	Q71H61	ILDR2_HUMAN	I	184	ENSP00000271417:M184I;ENSP00000437008:M184I;ENSP00000434273:M184I;ENSP00000432750:M184I	ENSP00000271417:M184I	M	-	3	0	ILDR2	165175379	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.912000	0.75753	2.885000	0.99019	0.655000	0.94253	ATG		0.423	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2		NM_199351	
IPO7	10527	broad.mit.edu;hgsc.bcm.edu	37	11	9446754	9446754	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr11:9446754G>A	ENST00000379719.3	+	12	1422	c.1280G>A	c.(1279-1281)cGa>cAa	p.R427Q		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	427					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)	p.R427Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GCTGACCCTCGAAAAAAAGAT	0.368																																																	1	Substitution - Missense(1)	kidney(1)											84.0	82.0	83.0					11																	9446754		2201	4295	6496	SO:0001583	missense	10527			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.1280G>A	11.37:g.9446754G>A	ENSP00000369042:p.Arg427Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	36	5.604402	0.96626	.	.	ENSG00000205339	ENST00000379719	T	0.67865	-0.29	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	T	0.77150	0.4088	M	0.72576	2.205	0.80722	D	1	D	0.61080	0.989	P	0.54856	0.762	T	0.75872	-0.3164	10	0.35671	T	0.21	.	19.2869	0.94082	0.0:0.0:1.0:0.0	.	427	O95373	IPO7_HUMAN	Q	427	ENSP00000369042:R427Q	ENSP00000369042:R427Q	R	+	2	0	IPO7	9403330	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	9.847000	0.99503	2.528000	0.85240	0.655000	0.94253	CGA		0.368	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1		NM_006391	
LRP5	4041	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	68125161	68125161	+	Silent	SNP	C	C	A	rs200728516		TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr11:68125161C>A	ENST00000294304.7	+	3	638	c.532C>A	c.(532-534)Cgg>Agg	p.R178R		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	178	Beta-propeller 1.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R178R(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCGGATTGAGCGGGCAGGGAT	0.547																																																	1	Substitution - coding silent(1)	kidney(1)											73.0	64.0	67.0					11																	68125161		2200	4294	6494	SO:0001819	synonymous_variant	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.532C>A	11.37:g.68125161C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	CCDS8181.1																																																																																				0.547	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1		NM_002335	
LUM	4060	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	91502697	91502697	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr12:91502697G>C	ENST00000266718.4	-	2	514	c.60C>G	c.(58-60)taC>taG	p.Y20*	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	20					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.Y20*(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CATAATCATAGTACTGGCCAC	0.403																																																	1	Substitution - Nonsense(1)	kidney(1)											84.0	77.0	80.0					12																	91502697		2203	4300	6503	SO:0001587	stop_gained	4060			BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.60C>G	12.37:g.91502697G>C	ENSP00000266718:p.Tyr20*	Somatic		WXS	Illumina HiSeq	Phase_I	B2R6R5|Q96QM7	Nonsense_Mutation	SNP	ENST00000266718.4	37	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	G	38	6.981537	0.97979	.	.	ENSG00000139329	ENST00000266718	.	.	.	5.44	4.54	0.55810	.	0.550801	0.18124	U	0.150950	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1682	5.4405	0.16507	0.2721:0.0:0.7279:0.0	.	.	.	.	X	20	.	ENSP00000266718:Y20X	Y	-	3	2	LUM	90026828	0.994000	0.37717	1.000000	0.80357	0.782000	0.44232	0.766000	0.26560	2.714000	0.92807	0.650000	0.86243	TAC		0.403	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2		NM_002345	
MAP7	9053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	136682267	136682267	+	Missense_Mutation	SNP	C	C	T	rs35107962	byFrequency	TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr6:136682267C>T	ENST00000354570.3	-	12	1987	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	MAP7_ENST00000454590.1_Missense_Mutation_p.R548H|MAP7_ENST00000544465.1_Missense_Mutation_p.R511H|MAP7_ENST00000438100.2_Missense_Mutation_p.R511H|MAP7_ENST00000432797.2_Missense_Mutation_p.R380H	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	526			R -> P (in dbSNP:rs35107962).		cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.R526H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTCCTCACGGCGAGTCGTCCT	0.602																																																	1	Substitution - Missense(1)	kidney(1)											23.0	25.0	24.0					6																	136682267		2200	4292	6492	SO:0001583	missense	9053			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1577G>A	6.37:g.136682267C>T	ENSP00000346581:p.Arg526His	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638766	0.29157	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67	5.78	5.78	0.91487	.	0.121243	0.37623	N	0.002019	T	0.50769	0.1635	M	0.86268	2.805	0.35001	D	0.756005	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.76071	0.98;0.98;0.966;0.98;0.987;0.966;0.98	T	0.60535	-0.7244	10	0.66056	D	0.02	-9.0992	12.9093	0.58171	0.0:0.9252:0.0:0.0748	.	511;548;511;548;432;489;526	B7Z290;B7ZB64;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	H	526;548;511;511;380;432	ENSP00000346581:R526H;ENSP00000414712:R548H;ENSP00000445737:R511H;ENSP00000400790:R511H;ENSP00000414879:R380H	ENSP00000344217:R432H	R	-	2	0	MAP7	136723960	0.880000	0.30214	0.156000	0.22583	0.028000	0.11728	1.636000	0.37144	2.732000	0.93576	0.555000	0.69702	CGC		0.602	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2		NM_003980	
MEGF6	1953	hgsc.bcm.edu	37	1	3413839	3413840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr1:3413839_3413840insG	ENST00000356575.4	-	27	3664_3665	c.3438_3439insC	c.(3436-3441)gcctgcfs	p.C1147fs	MEGF6_ENST00000294599.4_Frame_Shift_Ins_p.C956fs	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1147	EGF-like 21. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GGACAGCGGCAGGCCCCAGTGA	0.708																																					Ovarian(73;978 3658)												0																																										SO:0001589	frameshift_variant	1953			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.3439dupC	1.37:g.3413841_3413841dupG	ENSP00000348982:p.Cys1147fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q4AC86|Q5VV39	Frame_Shift_Ins	INS	ENST00000356575.4	37	CCDS41237.1																																																																																				0.708	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1		NM_001409	
MIOS	54468	hgsc.bcm.edu;ucsc.edu	37	7	7635995	7635995	+	Silent	SNP	G	G	T	rs115055951	byFrequency	TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr7:7635995G>T	ENST00000340080.4	+	11	2725	c.2304G>T	c.(2302-2304)acG>acT	p.T768T	MIOS_ENST00000405785.1_Silent_p.T768T	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	768						lysosomal membrane (GO:0005765)		p.T768T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCTCACCAACGAAATCTAAAG	0.468																																																	1	Substitution - coding silent(1)	kidney(1)											191.0	182.0	185.0					7																	7635995		1971	4151	6122	SO:0001819	synonymous_variant	54468				CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.2304G>T	7.37:g.7635995G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RTV6|O75216|Q7L551|Q9H092	Silent	SNP	ENST00000340080.4	37	CCDS43554.1																																																																																				0.468	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1		NM_019005	
MYCBP2	23077	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	77817235	77817235	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr13:77817235C>G	ENST00000544440.2	-	17	2491	c.2474G>C	c.(2473-2475)cGg>cCg	p.R825P	MYCBP2_ENST00000357337.6_Missense_Mutation_p.R825P|MYCBP2_ENST00000407578.2_Missense_Mutation_p.R863P|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase									p.R825P(2)|p.R863P(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TACACGTTGCCGTTTTTCTTC	0.413																																																	3	Substitution - Missense(3)	kidney(3)											286.0	238.0	254.0					13																	77817235		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2474G>C	13.37:g.77817235C>G	ENSP00000444596:p.Arg825Pro	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	C	26.8	4.767658	0.90020	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.32515	1.46;1.45;1.46	5.61	5.61	0.85477	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.000000	0.64402	D	0.000001	T	0.27933	0.0688	L	0.47716	1.5	0.58432	D	0.999999	P	0.44090	0.826	B	0.32465	0.146	T	0.07888	-1.0749	10	0.45353	T	0.12	.	19.6386	0.95748	0.0:1.0:0.0:0.0	.	825	O75592	MYCB2_HUMAN	P	825;863;825	ENSP00000349892:R825P;ENSP00000384288:R863P;ENSP00000444596:R825P	ENSP00000349892:R825P	R	-	2	0	MYCBP2	76715236	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.021000	0.76425	2.629000	0.89072	0.650000	0.86243	CGG		0.413	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1		NM_015057	
MYH7	4625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23890215	23890215	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr14:23890215A>T	ENST00000355349.3	-	26	3450	c.3288T>A	c.(3286-3288)gaT>gaA	p.D1096E	MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1096					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.D1096E(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGGCCTGTTCATCCTCAATCC	0.577																																																	1	Substitution - Missense(1)	kidney(1)											95.0	86.0	89.0					14																	23890215		2203	4300	6503	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3288T>A	14.37:g.23890215A>T	ENSP00000347507:p.Asp1096Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.376494	0.82682	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.79454	-1.27	5.55	1.94	0.25998	Myosin tail (1);	.	.	.	.	D	0.82838	0.5124	L	0.55743	1.74	0.49582	D	0.9998	D	0.89917	1.0	D	0.91635	0.999	T	0.80511	-0.1350	9	0.66056	D	0.02	.	9.3367	0.38054	0.797:0.0:0.203:0.0	.	1096	P12883	MYH7_HUMAN	E	1096	ENSP00000347507:D1096E	ENSP00000347507:D1096E	D	-	3	2	MYH7	22960055	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.881000	0.39638	0.184000	0.20083	-0.290000	0.09829	GAT		0.577	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3		NM_000257	
NPHP3	27031	broad.mit.edu;hgsc.bcm.edu	37	3	132416207	132416207	+	Splice_Site	SNP	C	C	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr3:132416207C>A	ENST00000337331.5	-	14	2072		c.e14-1		NPHP3_ENST00000326682.8_Splice_Site	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)						atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)		p.?(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGCCACAACCTTTTATGTAA	0.299																																																	1	Unknown(1)	kidney(1)											90.0	98.0	95.0					3																	132416207		2203	4297	6500	SO:0001630	splice_region_variant	27031			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1986-1G>T	3.37:g.132416207C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Splice_Site	SNP	ENST00000337331.5	37	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460543	0.84317	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NPHP3	133898897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.185000	0.65076	2.885000	0.99019	0.655000	0.94253	.		0.299	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2		NM_153240	Intron
OMD	4958	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	95177538	95177538	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr9:95177538C>A	ENST00000375550.4	-	3	1437	c.1162G>T	c.(1162-1164)Gat>Tat	p.D388Y	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	388	Asp/Glu-rich (acidic).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.D388Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TCACTTTCATCATCATCATCT	0.383			T	USP6	aneurysmal bone cysts																																			Dom	yes		9	9q22.31	4958	osteomodulin		M	1	Substitution - Missense(1)	kidney(1)											222.0	201.0	208.0					9																	95177538		2203	4300	6503	SO:0001583	missense	4958			AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8134	protein-coding gene	gene with protein product	"""osteoadherin proteoglycan"""						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.1162G>T	9.37:g.95177538C>A	ENSP00000364700:p.Asp388Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TBF4	Missense_Mutation	SNP	ENST00000375550.4	37	CCDS6696.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258626	0.59321	.	.	ENSG00000127083	ENST00000375550	T	0.38401	1.14	4.66	3.76	0.43208	.	0.816868	0.10752	N	0.638154	T	0.29817	0.0745	N	0.08118	0	0.29493	N	0.855472	D	0.55385	0.971	P	0.49708	0.62	T	0.25398	-1.0133	10	0.72032	D	0.01	-10.8835	12.7847	0.57498	0.0:0.9199:0.0:0.0801	.	388	Q99983	OMD_HUMAN	Y	388	ENSP00000364700:D388Y	ENSP00000364700:D388Y	D	-	1	0	OMD	94217359	0.029000	0.19370	0.024000	0.17045	0.661000	0.39034	1.415000	0.34748	1.090000	0.41315	0.555000	0.69702	GAT		0.383	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1		NM_005014	
PCDHGB3	56102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140750550	140750550	+	Nonsense_Mutation	SNP	A	A	T	rs200655179	byFrequency	TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr5:140750550A>T	ENST00000576222.1	+	1	720	c.589A>T	c.(589-591)Aaa>Taa	p.K197*	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	197	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAGTACTGAAAGCACCCCT	0.562																																																	0													77.0	80.0	79.0					5																	140750550		2038	4208	6246	SO:0001587	stop_gained	56102			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.589A>T	5.37:g.140750550A>T	ENSP00000461862:p.Lys197*	Somatic		WXS	Illumina HiSeq	Phase_I	A7E229|Q9Y5C7	Nonsense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.562	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1		NM_018924	
PI4KB	5298	broad.mit.edu;hgsc.bcm.edu	37	1	151288136	151288136	+	Silent	SNP	G	G	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr1:151288136G>A	ENST00000368873.1	-	2	990	c.822C>T	c.(820-822)cgC>cgT	p.R274R	PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368872.1_Silent_p.R274R|PI4KB_ENST00000368874.4_Silent_p.R274R|PI4KB_ENST00000271657.5_Silent_p.R286R|PI4KB_ENST00000368875.2_Silent_p.R286R			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	274					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.R286R(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGACTTAGAGCGCTGGTGAG	0.547																																					Colon(154;765 1838 9854 28443 37492)												1	Substitution - coding silent(1)	kidney(1)											121.0	112.0	115.0					1																	151288136		2203	4300	6503	SO:0001819	synonymous_variant	5298			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.822C>T	1.37:g.151288136G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	ENST00000368873.1	37																																																																																					0.547	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3		NM_002651	
PODXL	5420	broad.mit.edu;hgsc.bcm.edu	37	7	131194328	131194328	+	Silent	SNP	C	C	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr7:131194328C>T	ENST00000378555.3	-	4	1066	c.819G>A	c.(817-819)tcG>tcA	p.S273S	PODXL_ENST00000537928.1_Silent_p.S241S|PODXL_ENST00000322985.9_Silent_p.S241S|PODXL_ENST00000541194.1_Silent_p.S275S|PODXL_ENST00000465001.1_5'Flank			O00592	PODXL_HUMAN	podocalyxin-like	273	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.S273S(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GAGTTCTTTGCGAGATAACCG	0.517																																																	2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											165.0	145.0	152.0					7																	131194328		2203	4300	6503	SO:0001819	synonymous_variant	5420				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.819G>A	7.37:g.131194328C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NHX8|Q52LZ7|Q53ER6	Silent	SNP	ENST00000378555.3	37	CCDS34755.1																																																																																				0.517	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2		NM_001018111	
PRKAG2	51422	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	151262817	151262817	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr7:151262817A>C	ENST00000287878.4	-	12	1892	c.1388T>G	c.(1387-1389)gTg>gGg	p.V463G	PRKAG2_ENST00000392801.2_Missense_Mutation_p.V419G|PRKAG2_ENST00000433631.2_Missense_Mutation_p.V338G|PRKAG2_ENST00000492843.1_Missense_Mutation_p.V339G|PRKAG2_ENST00000418337.2_Missense_Mutation_p.V222G	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	463	CBS 3. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.V463G(1)|p.V338G(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	TGACTCATCCACAACAGGCAG	0.443																																																	2	Substitution - Missense(2)	kidney(2)											207.0	176.0	187.0					7																	151262817		2203	4300	6503	SO:0001583	missense	51422			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.1388T>G	7.37:g.151262817A>C	ENSP00000287878:p.Val463Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.743820	0.89663	.	.	ENSG00000106617	ENST00000418337;ENST00000287878;ENST00000492843;ENST00000433631;ENST00000392801	D;D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03;-4.03	6.06	6.06	0.98353	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.98823	0.9603	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99624	1.0984	10	0.87932	D	0	.	15.7905	0.78357	1.0:0.0:0.0:0.0	.	338;463	B7Z6X8;Q9UGJ0	.;AAKG2_HUMAN	G	222;463;339;338;419	ENSP00000387386:V222G;ENSP00000287878:V463G;ENSP00000419577:V339G;ENSP00000406544:V338G;ENSP00000376549:V419G	ENSP00000287878:V463G	V	-	2	0	PRKAG2	150893750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.999000	0.93557	2.324000	0.78689	0.533000	0.62120	GTG		0.443	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2		NM_016203	
PTGER4	5734	hgsc.bcm.edu;ucsc.edu	37	5	40692474	40692475	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	TA	TA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr5:40692474_40692475delTA	ENST00000302472.3	+	3	2485_2486	c.1461_1462delTA	c.(1459-1464)tgtatafs	p.I488fs		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	488					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	CAGAAAAATGTATATAATAGGC	0.47																																																	0																																										SO:0001589	frameshift_variant	5734			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.1461_1462delTA	5.37:g.40692478_40692479delTA	ENSP00000302846:p.Ile488fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q3MJ87	Frame_Shift_Del	DEL	ENST00000302472.3	37	CCDS3930.1																																																																																				0.470	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2		NM_000958	
RPL22L1	200916	broad.mit.edu;ucsc.edu	37	3	170585834	170585834	+	Silent	SNP	G	G	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr3:170585834G>T	ENST00000295830.8	-	3	507	c.192C>A	c.(190-192)atC>atA	p.I64I	RPL22L1_ENST00000463836.1_Silent_p.I63I	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	64					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)	p.I64I(1)		kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			AAACAACTGTGATTTTATTCT	0.308																																																	1	Substitution - coding silent(1)	kidney(1)											41.0	36.0	38.0					3																	170585834		1790	4062	5852	SO:0001819	synonymous_variant	200916			BC062731	CCDS46955.1	3q26.2	2005-08-09			ENSG00000163584	ENSG00000163584			27610	protein-coding gene	gene with protein product							Standard	NM_001099645		Approved		uc003fhc.4	Q6P5R6	OTTHUMG00000158957	ENST00000295830.8:c.192C>A	3.37:g.170585834G>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q32Q77	Silent	SNP	ENST00000295830.8	37	CCDS46955.1																																																																																				0.308	RPL22L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352586.2		XM_114317	
RSPH1	89765	hgsc.bcm.edu;ucsc.edu	37	21	43897417	43897417	+	Silent	SNP	G	G	A	rs75626002	byFrequency	TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr21:43897417G>A	ENST00000291536.3	-	7	878	c.711C>T	c.(709-711)gaC>gaT	p.D237D	RSPH1_ENST00000398352.3_Silent_p.D199D	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	237					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CTCCTGGAGCGTCTTGGCCAG	0.622													G|||	12	0.00239617	0.0068	0.0043	5008	,	,		11563	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(23;63 706 6286 10288 12913)												0								G		39,4367	43.1+/-76.7	0,39,2164	168.0	155.0	159.0		711	-8.6	0.0	21	dbSNP_133	159	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RSPH1	NM_080860.2		0,40,6463	AA,AG,GG		0.0116,0.8852,0.3076		237/310	43897417	40,12966	2203	4300	6503	SO:0001819	synonymous_variant	89765			AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"""meichroacidin"""	609314	"""testis specific A2 homolog (mouse)"""	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.711C>T	21.37:g.43897417G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8MWV0|B2RBN9|Q3MJA1	Silent	SNP	ENST00000291536.3	37	CCDS13688.1																																																																																				0.622	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1			
SLC39A6	25800	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	33689577	33689577	+	Silent	SNP	G	G	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr18:33689577G>A	ENST00000590986.1	-	10	2536	c.2247C>T	c.(2245-2247)atC>atT	p.I749I	SLC39A6_ENST00000269187.5_Silent_p.I749I			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	749					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.I749I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TACGAAACACGATTTTATGTT	0.348																																																	1	Substitution - coding silent(1)	kidney(1)											89.0	90.0	89.0					18																	33689577		1818	4087	5905	SO:0001819	synonymous_variant	25800			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.2247C>T	18.37:g.33689577G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DR49|B4E224|Q8IXR3|Q96HP5	Silent	SNP	ENST00000590986.1	37	CCDS42428.1																																																																																				0.348	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1			
SOX9	6662	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	70119701	70119701	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr17:70119701C>G	ENST00000245479.2	+	3	1075	c.703C>G	c.(703-705)Ccg>Gcg	p.P235A		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	235					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P235A(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CCAGGGCCCACCGACCCCACC	0.632																																					Pancreas(42;83 1041 2320 35205 39456)												1	Substitution - Missense(1)	kidney(1)											72.0	93.0	86.0					17																	70119701		2203	4298	6501	SO:0001583	missense	6662			S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.703C>G	17.37:g.70119701C>G	ENSP00000245479:p.Pro235Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155240	0.57259	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.99369	-5.78	4.53	4.53	0.55603	.	0.063133	0.64402	D	0.000004	D	0.98931	0.9637	M	0.93106	3.38	0.80722	D	1	B	0.23650	0.089	B	0.20577	0.03	D	0.99938	1.1378	10	0.62326	D	0.03	.	16.8583	0.86011	0.0:1.0:0.0:0.0	.	235	P48436	SOX9_HUMAN	A	235	ENSP00000245479:P235A	ENSP00000245479:P235A	P	+	1	0	SOX9	67631296	1.000000	0.71417	0.995000	0.50966	0.806000	0.45545	7.501000	0.81600	2.062000	0.61559	0.491000	0.48974	CCG		0.632	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1		NM_000346	
SPHKAP	80309	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	228881360	228881360	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr2:228881360C>G	ENST00000392056.3	-	7	4256	c.4210G>C	c.(4210-4212)Gaa>Caa	p.E1404Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1404Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1404						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.E1404Q(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGGAAGTTTCTTTTTTAGAA	0.448																																																	2	Substitution - Missense(2)	kidney(2)											88.0	93.0	91.0					2																	228881360		2203	4300	6503	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4210G>C	2.37:g.228881360C>G	ENSP00000375909:p.Glu1404Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906120	0.52333	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13420	2.59;2.59	5.92	3.04	0.35103	.	0.568918	0.20288	N	0.095305	T	0.33118	0.0852	M	0.76574	2.34	0.09310	N	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.997;0.994;0.999	T	0.06972	-1.0797	10	0.33141	T	0.24	.	10.4321	0.44413	0.0:0.6793:0.2513:0.0694	.	435;1404;1404	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	Q	1404	ENSP00000375909:E1404Q;ENSP00000339886:E1404Q	ENSP00000339886:E1404Q	E	-	1	0	SPHKAP	228589604	0.451000	0.25705	0.022000	0.16811	0.075000	0.17131	1.187000	0.32090	0.819000	0.34492	0.655000	0.94253	GAA		0.448	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1		NM_030623	
SPTAN1	6709	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131345086	131345086	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr9:131345086G>C	ENST00000372731.4	+	14	1874	c.1764G>C	c.(1762-1764)tgG>tgC	p.W588C	SPTAN1_ENST00000358161.5_Missense_Mutation_p.W588C|SPTAN1_ENST00000372739.3_Missense_Mutation_p.W588C	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	588					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.W588C(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TCAAGAGTTGGGTCAATGAGA	0.473																																					NSCLC(120;833 1744 2558 35612 37579)												1	Substitution - Missense(1)	kidney(1)											108.0	107.0	107.0					9																	131345086		2203	4300	6503	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1764G>C	9.37:g.131345086G>C	ENSP00000361816:p.Trp588Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516369	0.85495	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.70749	-0.51;-0.51;-0.51	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.88855	0.6550	M	0.93328	3.405	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.996;1.0;0.998;1.0	D	0.90982	0.4828	10	0.87932	D	0	.	19.0811	0.93182	0.0:0.0:1.0:0.0	.	588;588;588;588;588	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	C	588	ENSP00000350882:W588C;ENSP00000361816:W588C;ENSP00000361824:W588C	ENSP00000350882:W588C	W	+	3	0	SPTAN1	130384907	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.756000	0.94617	0.561000	0.74099	TGG		0.473	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127	
SYNRG	11276	hgsc.bcm.edu	37	17	35914100	35914101	+	Frame_Shift_Ins	INS	-	-	G	rs147693241		TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr17:35914100_35914101insG	ENST00000339208.6	-	14	1864_1865	c.1724_1725insC	c.(1723-1725)acafs	p.T575fs	SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000345615.4_Frame_Shift_Ins_p.T497fs|SYNRG_ENST00000502449.2_Frame_Shift_Ins_p.T497fs|SYNRG_ENST00000394378.2_Frame_Shift_Ins_p.T497fs|SYNRG_ENST00000585472.1_Frame_Shift_Ins_p.T496fs|SYNRG_ENST00000591288.1_Frame_Shift_Ins_p.T414fs|SYNRG_ENST00000346661.4_Frame_Shift_Ins_p.T575fs	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	575	Interaction with A1P1G1 and A1P1G2.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CACTATCGGCTGTTTTAAAATC	0.401																																																	0																																										SO:0001589	frameshift_variant	11276			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.1725dupC	17.37:g.35914101_35914101dupG	ENSP00000343610:p.Thr575fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Frame_Shift_Ins	INS	ENST00000339208.6	37	CCDS11321.1																																																																																				0.401	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2		NM_007247	
TNC	3371	hgsc.bcm.edu	37	9	117838696	117838703	+	Frame_Shift_Del	DEL	GTTGGCTC	GTTGGCTC	-	rs77983149	byFrequency	TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	GTTGGCTC	GTTGGCTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr9:117838696_117838703delGTTGGCTC	ENST00000350763.4	-	8	3237_3244	c.2826_2833delGAGCCAAC	c.(2824-2835)aagagccaacaafs	p.SQQ943fs	TNC_ENST00000535648.1_Frame_Shift_Del_p.SQQ943fs|TNC_ENST00000341037.4_Frame_Shift_Del_p.SQQ943fs|TNC_ENST00000346706.3_Frame_Shift_Del_p.SQQ943fs|TNC_ENST00000542877.1_Frame_Shift_Del_p.SQQ943fs|TNC_ENST00000345230.3_Frame_Shift_Del_p.SQQ943fs|TNC_ENST00000537320.1_Frame_Shift_Del_p.SQQ943fs|TNC_ENST00000423613.2_Frame_Shift_Del_p.SQQ943fs|TNC_ENST00000340094.3_Frame_Shift_Del_p.SQQ943fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	943	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.K942N(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTTGTGGCTTGTTGGCTCTTTGGAACAT	0.543																																																	1	Substitution - Missense(1)	breast(1)																																								SO:0001589	frameshift_variant	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2826_2833delGAGCCAAC	9.37:g.117838696_117838703delGTTGGCTC	ENSP00000265131:p.Ser943fs	Somatic		WXS	Illumina HiSeq	Phase_I	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Frame_Shift_Del	DEL	ENST00000350763.4	37	CCDS6811.1																																																																																				0.543	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2		NM_002160	
TRIM36	55521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	114513529	114513529	+	Intron	SNP	C	C	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr5:114513529C>T	ENST00000282369.3	-	1	185				TRIM36_ENST00000379618.2_Intron|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000379617.2_Missense_Mutation_p.R35Q	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36						acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R35Q(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AGAAGTCAACCGGGAATGCTC	0.488																																																	1	Substitution - Missense(1)	kidney(1)											86.0	87.0	86.0					5																	114513529		2202	4300	6502	SO:0001627	intron_variant	55521			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.63+2142G>A	5.37:g.114513529C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269637	0.23221	.	.	ENSG00000152503	ENST00000379617	.	.	.	2.51	-0.995	0.10222	.	.	.	.	.	T	0.28134	0.0694	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.26883	-1.0090	7	0.87932	D	0	.	5.4976	0.16811	0.0:0.193:0.6007:0.2062	.	35	A6NDD0	.	Q	35	.	ENSP00000368937:R35Q	R	-	2	0	TRIM36	114541428	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.423000	0.07034	-0.234000	0.09782	0.561000	0.74099	CGG		0.488	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2		NM_018700	
TRIOBP	11078	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	38151617	38151617	+	Nonsense_Mutation	SNP	G	G	T	rs185078175		TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr22:38151617G>T	ENST00000406386.3	+	15	5893	c.5638G>T	c.(5638-5640)Gag>Tag	p.E1880*	TRIOBP_ENST00000403663.2_Nonsense_Mutation_p.E167*|TRIOBP_ENST00000407319.2_Nonsense_Mutation_p.E167*	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1880	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.E1880*(1)|p.E167*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACTGGATCGAGGCTCTGAG	0.582																																																	2	Substitution - Nonsense(2)	kidney(2)											123.0	87.0	99.0					22																	38151617		2203	4300	6503	SO:0001587	stop_gained	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.5638G>T	22.37:g.38151617G>T	ENSP00000384312:p.Glu1880*	Somatic		WXS	Illumina HiSeq	Phase_I	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Nonsense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.95|14.95	2.687603|2.687603	0.48097|0.48097	.|.	.|.	ENSG00000100106|ENSG00000100106	ENST00000406386;ENST00000407319;ENST00000403663;ENST00000418339;ENST00000417857|ENST00000428075	.|.	.|.	.|.	4.69|4.69	4.69|4.69	0.59074|0.59074	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73760	.|0.3628	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74662	.|-0.3590	.|3	0.66056|.	D|.	0.02|.	.|.	17.9959|17.9959	0.89184|0.89184	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	1880;167;167;126;96|120	.|.	ENSP00000386026:E167X|.	E|R	+|+	1|2	0|0	TRIOBP|TRIOBP	36481563|36481563	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.487000|0.487000	0.33371|0.33371	3.823000|3.823000	0.55715|0.55715	2.310000|2.310000	0.77875|0.77875	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			
VPS13A	23230	hgsc.bcm.edu;ucsc.edu	37	9	79908261	79908261	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr9:79908261delT	ENST00000360280.3	+	32	3604	c.3344delT	c.(3343-3345)gttfs	p.V1115fs	VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Frame_Shift_Del_p.V1115fs|VPS13A_ENST00000376636.3_Frame_Shift_Del_p.V1076fs|VPS13A_ENST00000376634.4_Frame_Shift_Del_p.V1115fs	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1115					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATTAAGGCTGTTTATATCACT	0.294																																																	0													84.0	87.0	86.0					9																	79908261		2203	4299	6502	SO:0001589	frameshift_variant	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3344delT	9.37:g.79908261delT	ENSP00000353422:p.Val1115fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Frame_Shift_Del	DEL	ENST00000360280.3	37	CCDS6655.1																																																																																				0.294	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2		NM_015186	
ZNF180	7733	hgsc.bcm.edu;ucsc.edu	37	19	44982265	44982265	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr19:44982265delC	ENST00000221327.4	-	5	714	c.433delG	c.(433-435)gatfs	p.D146fs	ZNF180_ENST00000586637.1_3'UTR|ZNF180_ENST00000592529.1_Frame_Shift_Del_p.D119fs|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000391956.4_Frame_Shift_Del_p.D121fs|AC069278.4_ENST00000591684.1_lincRNA	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CAAGGATCATCCCTTGTAAAC	0.388																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)												0													135.0	135.0	135.0					19																	44982265		2203	4300	6503	SO:0001589	frameshift_variant	7733			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.433delG	19.37:g.44982265delC	ENSP00000221327:p.Asp146fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Frame_Shift_Del	DEL	ENST00000221327.4	37	CCDS12639.1																																																																																				0.388	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1		NM_013256	
ZNF670	93474	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	247202840	247202840	+	Splice_Site	SNP	C	C	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr1:247202840C>T	ENST00000366503.2	-	2	162		c.e2-1			NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670						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.?(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			ACACTGAATCCTAGAATATCG	0.418																																																	1	Unknown(1)	kidney(1)											99.0	93.0	95.0					1																	247202840		2203	4300	6503	SO:0001630	splice_region_variant	93474				CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"""Zinc fingers, C2H2-type"", ""-"""	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.4-1G>A	1.37:g.247202840C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Splice_Site	SNP	ENST00000366503.2	37	CCDS31087.1	.	.	.	.	.	.	.	.	.	.	C	6.267	0.417336	0.11870	.	.	ENSG00000135747	ENST00000366503	.	.	.	0.46	0.46	0.16684	.	.	.	.	.	.	.	.	.	.	.	0.30604	N	0.760221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7268	0.23361	0.0:0.9999:0.0:1.0E-4	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF670	245269463	0.761000	0.28439	0.026000	0.17262	0.142000	0.21351	2.188000	0.42612	0.495000	0.27882	0.298000	0.19748	.		0.418	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098183.3		NM_033213	Intron
ZSCAN21	7589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99662005	99662005	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr7:99662005G>A	ENST00000292450.4	+	4	1351	c.1187G>A	c.(1186-1188)aGc>aAc	p.S396N	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.A362T|ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.A362T	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	396					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S396N(1)		breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGTGGGAAGAGCTTCAGTCAG	0.532																																																	1	Substitution - Missense(1)	kidney(1)											92.0	86.0	88.0					7																	99662005		2203	4300	6503	SO:0001583	missense	7589			AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.1187G>A	7.37:g.99662005G>A	ENSP00000292450:p.Ser396Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	CCDS5681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.62|18.62	3.663246|3.663246	0.67700|0.67700	.|.	.|.	ENSG00000166529|ENSG00000166529	ENST00000543588;ENST00000456748|ENST00000292450;ENST00000379635	T;T|T	0.02197|0.08102	4.4;4.4|3.13	4.24|4.24	4.24|4.24	0.50183|0.50183	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.49916	.|D	.|0.000125	T|T	0.13927|0.13927	0.0337|0.0337	L|L	0.45137|0.45137	1.4|1.4	0.80722|0.80722	D|D	1|1	P|P	0.40731|0.49783	0.728|0.928	B|P	0.41988|0.50162	0.372|0.633	T|T	0.00920|0.00920	-1.1514|-1.1514	9|10	0.87932|0.87932	D|D	0|0	.|.	14.5544|14.5544	0.68091|0.68091	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	362|396	G3V1M0|Q9Y5A6	.|ZSC21_HUMAN	T|N	362|396;371	ENSP00000441212:A362T;ENSP00000390960:A362T|ENSP00000292450:S396N	ENSP00000390960:A362T|ENSP00000292450:S396N	A|S	+|+	1|2	0|0	ZSCAN21|ZSCAN21	99499941|99499941	0.017000|0.017000	0.18338|0.18338	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	0.902000|0.902000	0.28459|0.28459	2.382000|2.382000	0.81193|0.81193	0.655000|0.655000	0.94253|0.94253	GCT|AGC		0.532	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1		NM_145914	
CHST7	56548	broad.mit.edu	37	X	46433704	46433704	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chrX:46433704G>A	ENST00000276055.3	+	1	486	c.338G>A	c.(337-339)gGc>gAc	p.G113D		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	113					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|N-acetylglucosamine metabolic process (GO:0006044)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)	p.G113D(1)		breast(3)|endometrium(2)|kidney(1)|lung(2)	8						TGGCGCACCGGCTCGTCCTTC	0.612																																																	1	Substitution - Missense(1)	kidney(1)											35.0	32.0	33.0					X																	46433704		2203	4300	6503	SO:0001583	missense	56548			AB040711	CCDS14268.1	Xp11.3	2008-02-05			ENSG00000147119	ENSG00000147119		"""Sulfotransferases, membrane-bound"""	13817	protein-coding gene	gene with protein product		300375				10781596	Standard	NM_019886		Approved	C6ST-2, C6ST2	uc004dgt.3	Q9NS84	OTTHUMG00000021423	ENST00000276055.3:c.338G>A	X.37:g.46433704G>A	ENSP00000276055:p.Gly113Asp	Somatic		WXS	Illumina GAIIx	Phase_I	O75667	Missense_Mutation	SNP	ENST00000276055.3	37	CCDS14268.1	.	.	.	.	.	.	.	.	.	.	g	21.9	4.213533	0.79352	.	.	ENSG00000147119	ENST00000276055	D	0.99683	-6.39	4.56	4.56	0.56223	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97328	0.9948	10	0.66056	D	0.02	-19.7706	15.2928	0.73879	0.0:0.0:1.0:0.0	.	113	Q9NS84	CHST7_HUMAN	D	113	ENSP00000276055:G113D	ENSP00000276055:G113D	G	+	2	0	CHST7	46318648	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.263000	0.95617	2.115000	0.64714	0.505000	0.49811	GGC		0.612	CHST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056362.1		NM_019886	
GRIN3B	116444	broad.mit.edu	37	19	1009551	1009577	+	In_Frame_Del	DEL	GCCCCCGCGGAGGCCCCACCACACTCT	GCCCCCGCGGAGGCCCCACCACACTCT	-	rs573396231|rs58448123|rs142516571	byFrequency	TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	GCCCCCGCGGAGGCCCCACCACACTCT	GCCCCCGCGGAGGCCCCACCACACTCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr19:1009551_1009577delGCCCCCGCGGAGGCCCCACCACACTCT	ENST00000234389.3	+	9	3101_3127	c.3082_3108delGCCCCCGCGGAGGCCCCACCACACTCT	c.(3082-3108)gcccccgcggaggccccaccacactctdel	p.APAEAPPHS1028del		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	1028					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGCCAGAGCGGCCCCCGCGGAGGCCCCACCACACTCTGGCCGACCGG	0.692														895	0.178714	0.1959	0.1744	5008	,	,		11397	0.1042		0.2167	False		,,,				2504	0.1963																0										362,1598		137,88,755						-8.8	0.0		dbSNP_129	2	883,3849		318,247,1801	no	coding	GRIN3B	NM_138690.1		455,335,2556	A1A1,A1R,RR		18.6602,18.4694,18.6043				1245,5447				SO:0001651	inframe_deletion	116444				CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.3082_3108delGCCCCCGCGGAGGCCCCACCACACTCT	19.37:g.1009551_1009577delGCCCCCGCGGAGGCCCCACCACACTCT	ENSP00000234389:p.Ala1028_Ser1036del	Somatic		WXS	Illumina GAIIx	Phase_I	Q5EAK7|Q7RTW9	In_Frame_Del	DEL	ENST00000234389.3	37	CCDS32861.1																																																																																				0.692	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			
IKZF1	10320	broad.mit.edu	37	7	50467716	50467716	+	Silent	SNP	C	C	T	rs367943812		TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr7:50467716C>T	ENST00000331340.3	+	8	1106	c.951C>T	c.(949-951)aaC>aaT	p.N317N	IKZF1_ENST00000343574.5_Silent_p.N230N|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Silent_p.N275N|IKZF1_ENST00000438033.1_Silent_p.N230N|IKZF1_ENST00000349824.4_Silent_p.N174N|IKZF1_ENST00000439701.1_Silent_p.N275N|IKZF1_ENST00000357364.4_Silent_p.N230N|IKZF1_ENST00000346667.4_Silent_p.N87N	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	317					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)|p.N317N(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CCATCAACAACGCCATCAACT	0.642			"""D,T"""	BCL6	"""ALL, DLBCL"""																																			"""Rec,Dom"""	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	29	Unknown(28)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(28)|kidney(1)											31.0	32.0	32.0					7																	50467716		2123	4261	6384	SO:0001819	synonymous_variant	10320			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.951C>T	7.37:g.50467716C>T		Somatic		WXS	Illumina GAIIx	Phase_I	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37																																																																																					0.642	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1		NM_006060	
PCDH15	65217	broad.mit.edu	37	10	55944912	55944912	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr10:55944912C>A	ENST00000320301.6	-	12	1816	c.1422G>T	c.(1420-1422)caG>caT	p.Q474H	PCDH15_ENST00000395432.2_Missense_Mutation_p.Q437H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.Q85H|PCDH15_ENST00000373957.3_Missense_Mutation_p.Q452H|PCDH15_ENST00000414778.1_Missense_Mutation_p.Q479H|PCDH15_ENST00000395445.1_Missense_Mutation_p.Q481H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.Q474H|PCDH15_ENST00000373955.1_Missense_Mutation_p.Q474H|PCDH15_ENST00000373965.2_Missense_Mutation_p.Q481H|PCDH15_ENST00000395438.1_Missense_Mutation_p.Q474H|PCDH15_ENST00000395433.1_Missense_Mutation_p.Q452H|PCDH15_ENST00000395446.1_Missense_Mutation_p.Q474H|PCDH15_ENST00000395430.1_Missense_Mutation_p.Q474H|PCDH15_ENST00000437009.1_Missense_Mutation_p.Q474H	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	474	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.Q474H(2)|p.Q479H(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGTAAGTTTGCTGTTCTTCCC	0.393										HNSCC(58;0.16)																																							4	Substitution - Missense(4)	kidney(4)											171.0	143.0	153.0					10																	55944912		2203	4300	6503	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1422G>T	10.37:g.55944912C>A	ENSP00000322604:p.Gln474His	Somatic		WXS	Illumina GAIIx	Phase_I	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.982880	0.53827	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.61627	0.09;0.56;0.56;0.17;0.09;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.14	3.27	0.37495	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69682	0.3138	M	0.63843	1.955	0.30373	N	0.782735	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0;1.0;0.999;0.999;0.999;0.997;0.999;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.998;0.986;0.989;1.0;0.998;0.999;0.998;0.979;0.963;0.996;0.999;0.987;0.992;0.996	T	0.65393	-0.6179	9	0.45353	T	0.12	.	8.8937	0.35451	0.0:0.7511:0.0:0.2489	.	452;474;474;479;474;437;474;474;481;481;474;479;474;452;474	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	H	481;479;474;474;85;481;474;437;474;452;452;474;474;479;474;474	ENSP00000363076:Q481H;ENSP00000410304:Q479H;ENSP00000378826:Q474H;ENSP00000386693:Q85H;ENSP00000378832:Q481H;ENSP00000378833:Q474H;ENSP00000378820:Q437H;ENSP00000354950:Q474H;ENSP00000378821:Q452H;ENSP00000363068:Q452H;ENSP00000322604:Q474H;ENSP00000378818:Q474H;ENSP00000412628:Q474H;ENSP00000363066:Q474H	ENSP00000322604:Q474H	Q	-	3	2	PCDH15	55614918	0.999000	0.42202	0.995000	0.50966	0.981000	0.71138	0.658000	0.24979	0.672000	0.31204	0.591000	0.81541	CAG		0.393	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2		NM_033056	
PNPLA1	285848	broad.mit.edu	37	6	36259314	36259314	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr6:36259314G>T	ENST00000394571.2	+	2	423	c.423G>T	c.(421-423)aaG>aaT	p.K141N	PNPLA1_ENST00000388715.3_Missense_Mutation_p.K46N|PNPLA1_ENST00000312917.5_Missense_Mutation_p.K46N	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	141	Patatin.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)	p.K46N(1)|p.K141N(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						TCACGTCCAAGGAGGAGCTCA	0.637																																																	2	Substitution - Missense(2)	kidney(2)											41.0	36.0	38.0					6																	36259314		2203	4300	6503	SO:0001583	missense	285848				CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.423G>T	6.37:g.36259314G>T	ENSP00000378072:p.Lys141Asn	Somatic		WXS	Illumina GAIIx	Phase_I	A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674412	0.47781	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.17	3.34	0.38264	Acyl transferase/acyl hydrolase/lysophospholipase (1);	11.892500	0.01156	N	0.006533	T	0.59335	0.2186	L	0.43923	1.385	0.32342	N	0.559652	P;P	0.49090	0.919;0.754	B;B	0.43360	0.358;0.417	T	0.38520	-0.9657	10	0.87932	D	0	0.0015	4.6797	0.12729	0.1804:0.0:0.6449:0.1747	.	141;46	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	N	46;46;141;141	ENSP00000373367:K46N;ENSP00000321116:K46N;ENSP00000391868:K141N;ENSP00000378072:K141N	ENSP00000321116:K46N	K	+	3	2	PNPLA1	36367292	1.000000	0.71417	0.983000	0.44433	0.975000	0.68041	1.366000	0.34193	0.533000	0.28675	0.467000	0.42956	AAG		0.637	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_173676	
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	C	T	rs201079775		TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr12:106820975C>T	ENST00000228347.4	+	13	1324	c.1102C>T	c.(1102-1104)Ctt>Ttt	p.L368F	POLR3B_ENST00000539066.1_Splice_Site_p.L310F|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	368					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274																																																	4	Substitution - Missense(4)	kidney(3)|lung(1)											10.0	11.0	10.0					12																	106820975		2176	4287	6463	SO:0001630	splice_region_variant	55703			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1102-1C>T	12.37:g.106820975C>T		Somatic		WXS	Illumina GAIIx	Phase_I	A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929826	0.92389	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;D	0.81996	-1.44;-1.44;-1.56	5.62	5.62	0.85841	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.93818	0.8023	H	0.97682	4.055	0.80722	D	1	B	0.33807	0.426	P	0.49597	0.616	D	0.93705	0.7019	9	.	.	.	-18.9461	20.02	0.97489	0.0:1.0:0.0:0.0	.	368	Q9NW08	RPC2_HUMAN	F	368;368;310;126;31	ENSP00000228347:L368F;ENSP00000445721:L310F;ENSP00000448398:L126F	.	L	+	1	0	POLR3B	105345105	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.150000	0.77403	2.809000	0.96659	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1		NM_018082	Missense_Mutation
ARMC4P1	101060171	broad.mit.edu	37	10	27551917	27551917	+	RNA	SNP	C	C	T	rs566660054	byFrequency	TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr10:27551917C>T	ENST00000576034.1	+	0	173									armadillo repeat containing 4 pseudogene 1																		TGAGCACTGGCGGATCCCATG	0.478													C|||	103	0.0205671	0.0015	0.013	5008	,	,		18028	0.0		0.0288	False		,,,				2504	0.0644																0																																												0					10p12.1	2012-12-19			ENSG00000238021	ENSG00000238021			44937	pseudogene	pseudogene							Standard	XM_006709935		Approved				OTTHUMG00000017856		10.37:g.27551917C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000576034.1	37																																																																																					0.478	ARMC4P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000436997.1			
KRT16P1	729252	broad.mit.edu	37	17	18344842	18344842	+	RNA	SNP	C	C	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr17:18344842C>T	ENST00000581027.1	+	0	760									keratin 16 pseudogene 1																		TGAGCTGCATCCTGAATGAGA	0.607																																																	0																																												0					17p11.2	2012-08-13	2010-02-25	2010-02-25	ENSG00000214856	ENSG00000214856			6420	pseudogene	pseudogene			"""keratin 14 pseudogene"""	KRT14P			Standard	NR_073414		Approved		uc010vya.2		OTTHUMG00000059249		17.37:g.18344842C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000581027.1	37																																																																																					0.607	KRT16P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000446576.1		NG_007001	
WASH6P	653440	broad.mit.edu	37	X	155254706	155254706	+	RNA	SNP	C	C	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chrX:155254706C>T	ENST00000461007.1	+	0	3622				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 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)	p.T415M(2)									GTGAGAGCCACGAGCCAAGGT	0.637													c|||	392	0.0782748	0.0121	0.2233	5008	,	,		28320	0.0615		0.1352	False		,,,				2504	0.0235																2	Substitution - Missense(2)	kidney(2)																																										0			AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155254706C>T		Somatic		WXS	Illumina GAIIx	Phase_I	A6NGF1|Q8N305	Missense_Mutation	SNP	ENST00000461007.1	37		.	.	.	.	.	.	.	.	.	.	c	13.63	2.293922	0.40594	.	.	ENSG00000182484	ENST00000359512;ENST00000285718	.	.	.	0.379	0.379	0.16213	.	0.155800	0.56097	N	0.000022	T	0.38983	0.1061	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28586	-1.0039	6	0.62326	D	0.03	-19.9253	6.473	0.22020	0.0:0.9998:0.0:2.0E-4	.	.	.	.	M	415;384	.	ENSP00000285718:T384M	T	+	2	0	WASH6P	154907900	0.648000	0.27313	0.679000	0.29978	0.260000	0.26232	2.495000	0.45337	0.418000	0.25898	0.171000	0.16805	ACG		0.637	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1		NG_008380	
USH1G	124590	broad.mit.edu	37	17	72919137	72919137	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr17:72919137T>G	ENST00000319642.1	-	1	214	c.32A>C	c.(31-33)gAt>gCt	p.D11A	OTOP2_ENST00000580223.1_5'Flank|OTOP2_ENST00000331427.4_5'Flank	NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	11					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)	p.D11A(1)	HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CAGGTAGCCATCCCGGGCTGC	0.687																																																	1	Substitution - Missense(1)	kidney(1)											23.0	19.0	21.0					17																	72919137		2189	4290	6479	SO:0001583	missense	124590			AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.32A>C	17.37:g.72919137T>G	ENSP00000320076:p.Asp11Ala	Somatic		WXS	Illumina GAIIx	Phase_I	Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.831928	0.50845	.	.	ENSG00000182040	ENST00000319642	T	0.32023	1.47	4.12	4.12	0.48240	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.62469	-0.6848	10	0.62326	D	0.03	-21.6376	13.2987	0.60313	0.0:0.0:0.0:1.0	.	11	Q495M9	USH1G_HUMAN	A	11	ENSP00000320076:D11A	ENSP00000320076:D11A	D	-	2	0	USH1G	70430732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.831000	0.86748	1.728000	0.51552	0.459000	0.35465	GAT		0.687	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1		NM_173477	
TSIX	9383	broad.mit.edu	37	X	73051012	73051012	+	lincRNA	SNP	C	C	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chrX:73051012C>A	ENST00000604411.1	+	0	74054				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		TGAGCTTTTCCCCTGGAGGAT	0.473																																																	0													35.0	31.0	32.0					X																	73051012		876	1991	2867			7503					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73051012C>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000604411.1	37																																																																																					0.473	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1		NR_003255	
