#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
AKAP17A	8227	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	1713017	1713017	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chrX:1713017A>G	ENST00000313871.3	+	2	858	c.662A>G	c.(661-663)tAc>tGc	p.Y221C	AKAP17A_ENST00000381261.3_Missense_Mutation_p.Y221C	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	221	RRM.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)	p.Y221C(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						TATGTGCAGTACCGCGAGTAC	0.607																																																	1	Substitution - Missense(1)	kidney(1)											116.0	107.0	110.0					X																	1713017		2203	4296	6499	SO:0001583	missense	8227			L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.662A>G	X.37:g.1713017A>G	ENSP00000324827:p.Tyr221Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	a	7.252	0.603391	0.14002	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.53640	0.61;0.61	1.86	0.532	0.17114	Nucleotide-binding, alpha-beta plait (1);	0.085876	0.49305	U	0.000159	T	0.58495	0.2126	.	.	.	0.21527	N	0.999652	D;B	0.71674	0.998;0.399	D;B	0.64776	0.929;0.32	T	0.51466	-0.8702	9	0.87932	D	0	.	6.5709	0.22539	0.8659:0.0:0.1341:0.0	.	221;221	Q02040-3;Q02040	.;AK17A_HUMAN	C	221	ENSP00000324827:Y221C;ENSP00000370660:Y221C	ENSP00000324827:Y221C	Y	+	2	0	AKAP17A	1673017	1.000000	0.71417	0.006000	0.13384	0.190000	0.23558	4.914000	0.63348	-0.222000	0.09958	0.084000	0.15446	TAC		0.607	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2		NM_005088	
ANKRD17	26057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	73979600	73979600	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr4:73979600C>G	ENST00000358602.4	-	24	4426	c.4310G>C	c.(4309-4311)tGt>tCt	p.C1437S	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.C1186S|ANKRD17_ENST00000509867.2_Missense_Mutation_p.C1324S	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1437					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.C1437S(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGACTCCATACAAAGATGACA	0.363																																																	1	Substitution - Missense(1)	kidney(1)											127.0	127.0	127.0					4																	73979600		2203	4300	6503	SO:0001583	missense	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.4310G>C	4.37:g.73979600C>G	ENSP00000351416:p.Cys1437Ser	Somatic		WXS	Illumina HiSeq	Phase_I	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687132	0.88639	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.69561	1.7;-0.37;-0.41	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000002	T	0.78861	0.4350	L	0.58510	1.815	0.80722	D	1	B;D;D;D;P	0.61080	0.361;0.989;0.989;0.981;0.826	B;D;D;D;B	0.75020	0.303;0.985;0.985;0.966;0.258	T	0.75266	-0.3378	10	0.28530	T	0.3	.	18.8032	0.92027	0.0:1.0:0.0:0.0	.	958;1436;1186;1437;1324	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	S	1437;1186;1324	ENSP00000351416:C1437S;ENSP00000332265:C1186S;ENSP00000427151:C1324S	ENSP00000332265:C1186S	C	-	2	0	ANKRD17	74198464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.501000	0.84356	0.555000	0.69702	TGT		0.363	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1		NM_032217	
ASB6	140459	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	132401522	132401522	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr9:132401522A>G	ENST00000277458.4	-	4	635	c.470T>C	c.(469-471)cTc>cCc	p.L157P	RP11-483H20.4_ENST00000455074.1_RNA|ASB6_ENST00000450050.2_Missense_Mutation_p.L78P|ASB6_ENST00000277459.4_Intron	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	157					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.L157P(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				AAGGTCCAGGAGGCGCTGCAG	0.647																																																	1	Substitution - Missense(1)	kidney(1)											71.0	74.0	73.0					9																	132401522		2203	4300	6503	SO:0001583	missense	140459				CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"""Ankyrin repeat domain containing"""	17181	protein-coding gene	gene with protein product		615051	"""ankyrin repeat and SOCS box-containing 6"""				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.470T>C	9.37:g.132401522A>G	ENSP00000277458:p.Leu157Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q5SZB7|Q9BV15	Missense_Mutation	SNP	ENST00000277458.4	37	CCDS6924.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332245	0.81801	.	.	ENSG00000148331	ENST00000277458;ENST00000450050	T;T	0.80994	-1.44;-1.44	5.3	5.3	0.74995	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.91446	0.7300	M	0.91612	3.225	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.93281	0.6660	10	0.87932	D	0	-32.7263	14.4226	0.67193	1.0:0.0:0.0:0.0	.	78;157;157	B4DRC4;A8K9U2;Q9NWX5	.;.;ASB6_HUMAN	P	157;78	ENSP00000277458:L157P;ENSP00000416172:L78P	ENSP00000277458:L157P	L	-	2	0	ASB6	131441343	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.905000	0.92613	1.993000	0.58246	0.459000	0.35465	CTC		0.647	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1		NM_017873	
ATP8B1	5205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	55319399	55319399	+	Silent	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr18:55319399G>A	ENST00000283684.4	-	25	3266	c.3267C>T	c.(3265-3267)ggC>ggT	p.G1089G	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|ATP8B1_ENST00000536015.1_Silent_p.G1089G			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1089					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G1089G(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				AAGTATCCAAGCCAATCTGTT	0.358																																																	1	Substitution - coding silent(1)	kidney(1)											48.0	46.0	47.0					18																	55319399		2202	4299	6501	SO:0001819	synonymous_variant	5205			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.3267C>T	18.37:g.55319399G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9BTP8	Silent	SNP	ENST00000283684.4	37	CCDS11965.1																																																																																				0.358	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1		NM_005603	
BAP1	8314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52437782	52437782	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr3:52437782G>C	ENST00000460680.1	-	13	1850	c.1379C>G	c.(1378-1380)tCa>tGa	p.S460*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.S442*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S460*(2)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CAGAGGAATTGAGAGGTCCTT	0.587			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)			Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	2	Substitution - Nonsense(2)	eye(1)|kidney(1)											72.0	74.0	73.0					3																	52437782		2203	4300	6503	SO:0001587	stop_gained	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1379C>G	3.37:g.52437782G>C	ENSP00000417132:p.Ser460*	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910675	0.92107	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	6.05	6.05	0.98169	.	0.275715	0.37348	N	0.002126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	16.0195	0.80472	0.0:0.1335:0.8665:0.0	.	.	.	.	X	460;442	.	ENSP00000296288:S442X	S	-	2	0	BAP1	52412822	1.000000	0.71417	0.890000	0.34922	0.933000	0.57130	5.347000	0.65998	2.880000	0.98712	0.655000	0.94253	TCA		0.587	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			
BMP1	649	hgsc.bcm.edu	37	8	22037969	22037969	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr8:22037969G>A	ENST00000306385.5	+	8	1720	c.1050G>A	c.(1048-1050)tgG>tgA	p.W350*	BMP1_ENST00000397814.3_Nonsense_Mutation_p.W350*|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Nonsense_Mutation_p.W350*|BMP1_ENST00000306349.8_Nonsense_Mutation_p.W350*	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	350	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.W350*(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACTGCGTGTGGCGCATCTCTG	0.607																																																	2	Substitution - Nonsense(2)	kidney(2)											199.0	171.0	180.0					8																	22037969		2203	4300	6503	SO:0001587	stop_gained	649				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1050G>A	8.37:g.22037969G>A	ENSP00000305714:p.Trp350*	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Nonsense_Mutation	SNP	ENST00000306385.5	37	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	38	7.281590	0.98186	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	.	.	.	5.66	5.66	0.87406	.	0.000000	0.36303	U	0.002662	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5112	0.90917	0.0:0.0:1.0:0.0	.	.	.	.	X	350	.	ENSP00000306121:W350X	W	+	3	0	BMP1	22093914	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.809000	0.99208	2.665000	0.90641	0.561000	0.74099	TGG		0.607	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2		NM_006132	
C19orf47	126526	broad.mit.edu;hgsc.bcm.edu	37	19	40827909	40827909	+	Silent	SNP	G	G	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr19:40827909G>T	ENST00000582783.1	-	9	1161	c.1149C>A	c.(1147-1149)gtC>gtA	p.V383V	C19orf47_ENST00000584868.1_Intron|C19orf47_ENST00000392035.2_Silent_p.V316V	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	383						nucleus (GO:0005634)		p.V383V(1)|p.V316V(1)		endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			TCTTAATGGTGACCTTGACCT	0.627																																																	2	Substitution - coding silent(2)	kidney(2)											46.0	41.0	43.0					19																	40827909		2203	4300	6503	SO:0001819	synonymous_variant	126526			AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.1149C>A	19.37:g.40827909G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8IZ33|Q8N0V9	Silent	SNP	ENST00000582783.1	37	CCDS58662.1																																																																																				0.627	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1		NM_178830	
C1orf112	55732	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	169773348	169773348	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr1:169773348G>C	ENST00000286031.6	+	6	1145	c.445G>C	c.(445-447)Gat>Cat	p.D149H	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000413811.2_Missense_Mutation_p.D120H|C1orf112_ENST00000359326.4_Missense_Mutation_p.D149H|C1orf112_ENST00000456684.1_Missense_Mutation_p.D207H	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	149								p.D149H(1)		breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCCTTTAGTAGATGACAATGA	0.368																																																	1	Substitution - Missense(1)	kidney(1)											131.0	131.0	131.0					1																	169773348		2203	4300	6503	SO:0001583	missense	55732			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.445G>C	1.37:g.169773348G>C	ENSP00000286031:p.Asp149His	Somatic		WXS	Illumina HiSeq	Phase_I	A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	37	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973747	0.34848	.	.	ENSG00000000460	ENST00000413811;ENST00000359326;ENST00000456684;ENST00000286031	T;T	0.46819	0.86;0.86	4.99	3.09	0.35607	.	0.369172	0.31589	N	0.007398	T	0.27933	0.0688	M	0.63428	1.95	0.09310	N	1	P;P;P;P	0.48503	0.911;0.875;0.875;0.911	P;P;P;B	0.45681	0.459;0.49;0.467;0.365	T	0.14671	-1.0464	10	0.54805	T	0.06	-12.2885	4.3434	0.11120	0.2572:0.0:0.5759:0.1669	.	120;91;149;207	B4E0A9;B4DGF2;Q9NSG2;B4DRP7	.;.;CA112_HUMAN;.	H	120;149;207;149	ENSP00000352276:D149H;ENSP00000286031:D149H	ENSP00000286031:D149H	D	+	1	0	C1orf112	168039972	0.984000	0.35163	0.215000	0.23724	0.621000	0.37620	2.247000	0.43151	1.235000	0.43724	0.655000	0.94253	GAT		0.368	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3		NM_018186	
RTFDC1	51507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	55049773	55049773	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr20:55049773C>A	ENST00000023939.4	+	3	311	c.204C>A	c.(202-204)gaC>gaA	p.D68E	RTFDC1_ENST00000395881.3_Missense_Mutation_p.D68E|snoU13_ENST00000459416.1_RNA|RTFDC1_ENST00000357348.5_Missense_Mutation_p.D98E	NM_001283035.1|NM_001283036.1|NM_016407.3	NP_001269964.1|NP_001269965.1|NP_057491.2	Q9BY42	RTF2_HUMAN	replication termination factor 2 domain containing 1	68								p.D68E(1)									TTCTCTTGGACAAATCTGCAG	0.388																																																	1	Substitution - Missense(1)	kidney(1)											141.0	145.0	144.0					20																	55049773		2203	4300	6503	SO:0001583	missense	0			AF161513	CCDS13453.1, CCDS63316.1, CCDS63317.1	20q13	2012-10-29	2012-10-29	2012-10-29	ENSG00000022277	ENSG00000022277			15890	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 43"""	C20orf43			Standard	NM_001283035		Approved	HSPC164, CDAO5	uc002xxt.2	Q9BY42	OTTHUMG00000032801	ENST00000023939.4:c.204C>A	20.37:g.55049773C>A	ENSP00000023939:p.Asp68Glu	Somatic		WXS	Illumina HiSeq	Phase_I	E1P5Z9|Q9BYL7|Q9HCV9|Q9NX29|Q9NZZ8|Q9P002|Q9UHW3	Missense_Mutation	SNP	ENST00000023939.4	37	CCDS13453.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793902	0.70452	.	.	ENSG00000022277	ENST00000023939;ENST00000395881;ENST00000357348;ENST00000449062	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	6.07	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.43277	0.1240	L	0.41961	1.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.99;0.979;1.0;0.99	T	0.22034	-1.0228	10	0.14656	T	0.56	-40.8572	11.9822	0.53125	0.0:0.8597:0.0:0.1403	.	98;68;68;68	A8MSH5;A2A2L6;B2RB99;Q9BY42	.;.;.;CT043_HUMAN	E	68;68;98;98	ENSP00000023939:D68E;ENSP00000379220:D68E;ENSP00000349906:D98E;ENSP00000400322:D98E	ENSP00000023939:D68E	D	+	3	2	C20orf43	54483180	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.536000	0.36072	1.567000	0.49668	0.655000	0.94253	GAC		0.388	RTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079817.2		NM_016407	
CAD	790	hgsc.bcm.edu;ucsc.edu	37	2	27454852	27454853	+	In_Frame_Ins	INS	-	-	GGA			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr2:27454852_27454853insGGA	ENST00000403525.1	+	16	2360_2361	c.2216_2217insGGA	c.(2215-2220)ttggag>ttGGAggag	p.740_741insE	CAD_ENST00000264705.4_In_Frame_Ins_p.803_804insE|CAD_ENST00000464159.1_3'UTR			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATCAGGAGTTGGAGACTCCAA	0.525																																																	0																																										SO:0001652	inframe_insertion	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2217_2219dupGGA	2.37:g.27454853_27454855dupGGA	ENSP00000384510:p.Glu740_Glu740dup	Somatic		WXS	Illumina HiSeq	Phase_I	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	In_Frame_Ins	INS	ENST00000403525.1	37																																																																																					0.525	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			
CCDC105	126402	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	15132495	15132495	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr19:15132495A>G	ENST00000292574.3	+	5	1191	c.1109A>G	c.(1108-1110)gAg>gGg	p.E370G		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	370						extracellular vesicular exosome (GO:0070062)		p.E370G(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TATAACCAAGAGTTGTACACC	0.572																																																	1	Substitution - Missense(1)	kidney(1)											85.0	83.0	84.0					19																	15132495		2203	4300	6503	SO:0001583	missense	126402			AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1109A>G	19.37:g.15132495A>G	ENSP00000292574:p.Glu370Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	A	9.712	1.157254	0.21454	.	.	ENSG00000160994	ENST00000292574	T	0.02737	4.18	3.67	3.67	0.42095	.	0.306262	0.24666	N	0.036588	T	0.10380	0.0254	M	0.65975	2.015	0.09310	N	0.999992	D	0.89917	1.0	D	0.87578	0.998	T	0.09552	-1.0669	10	0.28530	T	0.3	-31.9719	8.697	0.34303	1.0:0.0:0.0:0.0	.	370	Q8IYK2	CC105_HUMAN	G	370	ENSP00000292574:E370G	ENSP00000292574:E370G	E	+	2	0	CCDC105	14993495	1.000000	0.71417	0.362000	0.25862	0.059000	0.15707	3.771000	0.55318	1.559000	0.49555	0.449000	0.29647	GAG		0.572	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1		NM_173482	
CDH8	1006	broad.mit.edu;hgsc.bcm.edu	37	16	61851427	61851427	+	Silent	SNP	C	C	A	rs569050495		TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr16:61851427C>A	ENST00000577390.1	-	7	2187	c.1233G>T	c.(1231-1233)ggG>ggT	p.G411G	CDH8_ENST00000299345.6_Silent_p.G411G|CDH8_ENST00000577730.1_Silent_p.G411G|CDH8_ENST00000584337.1_Silent_p.G411G	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	411	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.G411G(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CAGTCACTTGCCCAATCACGG	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											90.0	82.0	85.0					16																	61851427		2203	4300	6503	SO:0001819	synonymous_variant	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1233G>T	16.37:g.61851427C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	CCDS10802.1																																																																																				0.423	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3		NM_001796	
CDKN2AIP	55602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	184367368	184367368	+	Silent	SNP	G	G	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr4:184367368G>C	ENST00000504169.1	+	3	738	c.531G>C	c.(529-531)acG>acC	p.T177T	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	177	Ser-rich.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)	p.T177T(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		ACAGTTCAACGTGTATAGGGT	0.468																																																	1	Substitution - coding silent(1)	kidney(1)											93.0	92.0	92.0					4																	184367368		2203	4300	6503	SO:0001819	synonymous_variant	55602			AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.531G>C	4.37:g.184367368G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q8TBM5|Q9NYH0	Silent	SNP	ENST00000504169.1	37	CCDS34110.1																																																																																				0.468	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1		NM_017632	
CMC1	152100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	28361101	28361101	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr3:28361101A>G	ENST00000466830.1	+	4	501	c.302A>G	c.(301-303)aAg>aGg	p.K101R	CMC1_ENST00000469102.1_3'UTR|AZI2_ENST00000295748.3_5'Flank|CMC1_ENST00000423894.1_Missense_Mutation_p.K71R	NM_182523.1	NP_872329.1	Q7Z7K0	COXM1_HUMAN	C-x(9)-C motif containing 1	101						mitochondrion (GO:0005739)	metal ion binding (GO:0046872)	p.K101R(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)	5						AGGCTACAGAAGCTTCCAACA	0.348																																																	1	Substitution - Missense(1)	kidney(1)											68.0	68.0	68.0					3																	28361101		2202	4298	6500	SO:0001583	missense	152100			BC052644	CCDS33722.1	3p24.1	2013-10-18	2013-10-18	2008-06-20	ENSG00000187118	ENSG00000187118			28783	protein-coding gene	gene with protein product		615166	"""chromosome 3 open reading frame 68"", ""COX assembly mitochondrial protein 1 homolog (S. cerevisiae)"""	C3orf68		18443040	Standard	NM_182523		Approved	MGC61571	uc003cea.3	Q7Z7K0	OTTHUMG00000155660	ENST00000466830.1:c.302A>G	3.37:g.28361101A>G	ENSP00000418348:p.Lys101Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q68DJ7	Missense_Mutation	SNP	ENST00000466830.1	37	CCDS33722.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.419902	0.42918	.	.	ENSG00000187118	ENST00000466830;ENST00000423894	.	.	.	5.82	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.54902	0.1887	L	0.58428	1.81	0.80722	D	1	B	0.15719	0.014	B	0.09377	0.004	T	0.52230	-0.8603	9	0.30078	T	0.28	-20.2047	10.1117	0.42565	0.8673:0.0:0.1327:0.0	.	101	Q7Z7K0	COXAM_HUMAN	R	101;71	.	ENSP00000404581:K71R	K	+	2	0	CMC1	28336105	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.032000	0.70918	2.225000	0.72522	0.460000	0.39030	AAG		0.348	CMC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341087.1		NM_182523	
DDTL	100037417	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24313566	24313566	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr22:24313566G>A	ENST00000215770.5	+	3	390	c.376G>A	c.(376-378)Gag>Aag	p.E126K	KB-226F1.2_ENST00000609736.1_lincRNA|DDT_ENST00000404092.1_Intron|DDT_ENST00000398344.4_3'UTR|DDT_ENST00000350608.3_3'UTR	NM_001084393.1	NP_001077862.1	A6NHG4	DDTL_HUMAN	D-dopachrome tautomerase-like	126						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lyase activity (GO:0016829)	p.E126K(1)		kidney(1)|urinary_tract(1)	2						ATGTTTGAATGAGGAAGCTCT	0.478																																																	1	Substitution - Missense(1)	kidney(1)											90.0	93.0	92.0					22																	24313566		2202	4299	6501	SO:0001583	missense	100037417			CR606018	CCDS42988.1	22q11.23	2008-06-10			ENSG00000099974	ENSG00000099974			33446	protein-coding gene	gene with protein product	"""D-dopachrome decarboxylase-like protein"""					9729470, 10591208	Standard	NM_001084393		Approved		uc002zyy.4	A6NHG4	OTTHUMG00000150800	ENST00000215770.5:c.376G>A	22.37:g.24313566G>A	ENSP00000215770:p.Glu126Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B4DJJ7	Missense_Mutation	SNP	ENST00000215770.5	37	CCDS42988.1	.	.	.	.	.	.	.	.	.	.	.	8.544	0.873975	0.17395	.	.	ENSG00000099974	ENST00000215770	.	.	.	3.96	-7.49	0.01355	.	.	.	.	.	T	0.13329	0.0323	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.24440	-1.0160	8	0.87932	D	0	.	1.5234	0.02520	0.3917:0.2345:0.2554:0.1184	.	126	A6NHG4	DDTL_HUMAN	K	126	.	ENSP00000215770:E126K	E	+	1	0	DDTL	22643566	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.425000	0.07017	-1.491000	0.01840	-2.592000	0.00164	GAG		0.478	DDTL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320142.1		NM_001084393	
DUS3L	56931	broad.mit.edu	37	19	5785681	5785681	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr19:5785681C>A	ENST00000309061.7	-	11	1780	c.1684G>T	c.(1684-1686)Ggc>Tgc	p.G562C	CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.G320C|PRR22_ENST00000419421.2_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	562							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)	p.G562C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GTGTCCGAGCCCCAGTGCTCC	0.682																																																	1	Substitution - Missense(1)	kidney(1)											31.0	32.0	31.0					19																	5785681		2201	4295	6496	SO:0001583	missense	56931				CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1684G>T	19.37:g.5785681C>A	ENSP00000311977:p.Gly562Cys	Somatic		WXS	Illumina GAIIx	Phase_I	Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675050	0.88445	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.33438	1.41;1.41	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.69260	0.3091	H	0.97611	4.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81682	-0.0822	10	0.87932	D	0	-32.3783	14.6137	0.68534	0.0:1.0:0.0:0.0	.	320;562	Q96G46-3;Q96G46	.;DUS3L_HUMAN	C	562;320	ENSP00000311977:G562C;ENSP00000315558:G320C	ENSP00000311977:G562C	G	-	1	0	DUS3L	5736681	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.411000	0.80078	2.052000	0.61016	0.555000	0.69702	GGC		0.682	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2		NM_020175	
DNMT1	1786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	10262203	10262203	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr19:10262203C>T	ENST00000340748.4	-	23	2323	c.2088G>A	c.(2086-2088)atG>atA	p.M696I	DNMT1_ENST00000540357.1_Missense_Mutation_p.M696I|DNMT1_ENST00000359526.4_Missense_Mutation_p.M712I			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	696	Autoinhibitory linker.|Required for activity.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.M696I(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CTGCCTCCTTCATGGCCATAT	0.473																																																	1	Substitution - Missense(1)	kidney(1)											212.0	184.0	193.0					19																	10262203		2203	4300	6503	SO:0001583	missense	1786			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2088G>A	19.37:g.10262203C>T	ENSP00000345739:p.Met696Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374507	0.42105	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.27720	2.05;1.65;1.65	5.48	4.43	0.53597	.	0.227351	0.44902	D	0.000415	T	0.11410	0.0278	N	0.02539	-0.55	0.34300	D	0.684299	B;B;B	0.13145	0.007;0.003;0.004	B;B;B	0.09377	0.004;0.004;0.002	T	0.18272	-1.0342	10	0.12766	T	0.61	.	9.9146	0.41425	0.0:0.8397:0.0:0.1603	.	696;712;696	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	I	712;696;696;564	ENSP00000352516:M712I;ENSP00000440457:M696I;ENSP00000345739:M696I	ENSP00000345739:M696I	M	-	3	0	DNMT1	10123203	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	0.377000	0.20552	1.277000	0.44412	0.655000	0.94253	ATG		0.473	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1		NM_001379	
EAF2	55840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	121591511	121591511	+	Silent	SNP	C	C	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr3:121591511C>A	ENST00000273668.2	+	5	683	c.612C>A	c.(610-612)tcC>tcA	p.S204S	EAF2_ENST00000451944.2_Silent_p.S204S	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	204	Necessary for transactivation activity.|Ser-rich.				apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.S204S(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		ATTGCAAATCCTCTACTTCTG	0.393																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)												1	Substitution - coding silent(1)	kidney(1)											118.0	111.0	114.0					3																	121591511		2203	4299	6502	SO:0001819	synonymous_variant	55840			AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.612C>A	3.37:g.121591511C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9NZ82	Silent	SNP	ENST00000273668.2	37	CCDS3006.1																																																																																				0.393	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1		NM_018456	
ESRP1	54845	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	95680227	95680227	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr8:95680227G>C	ENST00000433389.2	+	10	1172	c.982G>C	c.(982-984)Gtc>Ctc	p.V328L	ESRP1_ENST00000358397.5_Missense_Mutation_p.V328L|ESRP1_ENST00000454170.2_Missense_Mutation_p.V328L|ESRP1_ENST00000423620.2_Missense_Mutation_p.V328L	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	328	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.V328L(2)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TCAAGTCATTGTCCGCATGCG	0.483																																																	2	Substitution - Missense(2)	kidney(2)											61.0	60.0	61.0					8																	95680227		1866	4093	5959	SO:0001583	missense	54845			AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.982G>C	8.37:g.95680227G>C	ENSP00000405738:p.Val328Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.96|14.96	2.690255|2.690255	0.48097|0.48097	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000519505|ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610	.|T;T;T;T;T	.|0.06849	.|3.25;3.25;3.25;3.25;3.25	5.78|5.78	4.9|4.9	0.64082|0.64082	.|RNA recognition motif domain (2);	.|0.056016	.|0.64402	.|D	.|0.000001	T|T	0.16342|0.16342	0.0393|0.0393	L|L	0.60012|0.60012	1.86|1.86	0.80722|0.80722	D|D	1|1	.|P;B;B;B;B;B	.|0.35700	.|0.516;0.002;0.003;0.006;0.009;0.002	.|P;B;B;B;B;B	.|0.44647	.|0.456;0.016;0.04;0.041;0.063;0.028	T|T	0.01375|0.01375	-1.1371|-1.1371	5|10	.|0.40728	.|T	.|0.16	-9.6706|-9.6706	15.0244|15.0244	0.71656|0.71656	0.0682:0.0:0.9318:0.0|0.0682:0.0:0.9318:0.0	.|.	.|328;328;328;328;328;328	.|D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.|.;.;.;.;.;ESRP1_HUMAN	S|L	193|328;328;328;328;187	.|ENSP00000407349:V328L;ENSP00000405738:V328L;ENSP00000351168:V328L;ENSP00000402766:V328L;ENSP00000429125:V187L	.|ENSP00000351168:V328L	C|V	+|+	2|1	0|0	ESRP1|ESRP1	95749403|95749403	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	4.111000|4.111000	0.57838|0.57838	1.441000|1.441000	0.47550|0.47550	0.563000|0.563000	0.77884|0.77884	TGT|GTC		0.483	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1		NM_017697	
EXOC4	60412	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	133689775	133689775	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr7:133689775A>C	ENST00000253861.4	+	16	2488	c.2459A>C	c.(2458-2460)gAt>gCt	p.D820A	EXOC4_ENST00000541309.1_Missense_Mutation_p.D108A|EXOC4_ENST00000545148.1_Missense_Mutation_p.D430A|EXOC4_ENST00000539845.1_Missense_Mutation_p.D719A	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	820					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)	p.D820A(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CTCAACAAAGATATCAGCGCC	0.493																																																	1	Substitution - Missense(1)	kidney(1)											137.0	128.0	131.0					7																	133689775		2203	4300	6503	SO:0001583	missense	60412			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2459A>C	7.37:g.133689775A>C	ENSP00000253861:p.Asp820Ala	Somatic		WXS	Illumina HiSeq	Phase_I	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.691067	0.68271	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.76933	0.4057	M	0.75777	2.31	0.80722	D	1	P;D;D	0.89917	0.891;0.998;1.0	P;D;D	0.74674	0.638;0.972;0.984	T	0.74572	-0.3621	9	0.21540	T	0.41	.	15.4801	0.75517	1.0:0.0:0.0:0.0	.	352;430;820	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	A	820;439;719;430;108	.	ENSP00000253861:D820A	D	+	2	0	EXOC4	133340315	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.637000	0.91014	2.061000	0.61500	0.402000	0.26972	GAT		0.493	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1		NM_021807	
FANCF	2188	broad.mit.edu;ucsc.edu	37	11	22646676	22646676	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr11:22646676G>C	ENST00000327470.3	-	1	711	c.681C>G	c.(679-681)caC>caG	p.H227Q	AC103801.2_ENST00000428556.2_5'Flank	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	227					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.H227Q(1)		kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						CAGGTGATTTGTGGATGCCGG	0.582			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											yes	Rec		Fanconi anaemia F	11	11p15	2188	"""Fanconi anemia, complementation group F"""		L	1	Substitution - Missense(1)	kidney(1)											61.0	69.0	66.0					11																	22646676		2203	4300	6503	SO:0001583	missense	2188	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.681C>G	11.37:g.22646676G>C	ENSP00000330875:p.His227Gln	Somatic	757	WXS	Illumina GAIIx	Phase_I	Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	CCDS7857.1	.	.	.	.	.	.	.	.	.	.	G	6.372	0.436694	0.12104	.	.	ENSG00000183161	ENST00000327470	T	0.27720	1.65	4.45	-1.01	0.10169	.	1.161200	0.06678	U	0.767515	T	0.16342	0.0393	N	0.08118	0	0.09310	N	1	B	0.23058	0.079	B	0.29785	0.107	T	0.37798	-0.9690	10	0.23302	T	0.38	-5.8271	7.3527	0.26700	0.2334:0.3814:0.3852:0.0	.	227	Q9NPI8	FANCF_HUMAN	Q	227	ENSP00000330875:H227Q	ENSP00000330875:H227Q	H	-	3	2	FANCF	22603252	0.013000	0.17824	0.000000	0.03702	0.002000	0.02628	0.205000	0.17356	-0.392000	0.07751	-1.134000	0.01955	CAC		0.582	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2		NM_022725	
FBLN2	2199	broad.mit.edu	37	3	13649672	13649672	+	Splice_Site	SNP	A	A	G			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr3:13649672A>G	ENST00000295760.7	+	3	1486	c.1417A>G	c.(1417-1419)Agg>Ggg	p.R473G	FBLN2_ENST00000492059.1_Splice_Site_p.R473G|FBLN2_ENST00000404922.3_Splice_Site_p.R473G|FBLN2_ENST00000535798.1_Splice_Site_p.R499G	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	473	Anaphylatoxin-like 1. {ECO:0000255|PROSITE-ProRule:PRU00022}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.R473G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CAACGTCTGCAGGTAGGGTGG	0.632																																																	1	Substitution - Missense(1)	kidney(1)											51.0	55.0	54.0					3																	13649672		2149	4252	6401	SO:0001630	splice_region_variant	2199			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.1418+1A>G	3.37:g.13649672A>G		Somatic		WXS	Illumina GAIIx	Phase_I	B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	A	9.888	1.203333	0.22121	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	5.39	5.39	0.77823	Anaphylatoxin/fibulin (4);	0.123002	0.56097	D	0.000024	T	0.36552	0.0971	N	0.20986	0.625	0.80722	D	1	P;D;D	0.89917	0.465;1.0;1.0	B;D;D	0.85130	0.115;0.997;0.997	T	0.17806	-1.0357	10	0.51188	T	0.08	.	13.6476	0.62290	1.0:0.0:0.0:0.0	.	473;473;499	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	G	499;473;473;473	ENSP00000445705:R499G;ENSP00000384169:R473G;ENSP00000295760:R473G;ENSP00000420042:R473G	ENSP00000295760:R473G	R	+	1	2	FBLN2	13624673	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	6.087000	0.71362	2.045000	0.60652	0.383000	0.25322	AGG		0.632	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3		NM_001004019	Missense_Mutation
FRMD4A	55691	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	13699459	13699459	+	Silent	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr10:13699459G>A	ENST00000357447.2	-	22	2498	c.2130C>T	c.(2128-2130)tcC>tcT	p.S710S	FRMD4A_ENST00000358621.4_Silent_p.S695S|FRMD4A_ENST00000378503.1_Silent_p.S710S	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	710	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)		p.S710S(1)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						ACTCCAGGCTGGAGCTCCGGT	0.677																																																	1	Substitution - coding silent(1)	kidney(1)											23.0	25.0	24.0					10																	13699459		2196	4293	6489	SO:0001819	synonymous_variant	55691			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2130C>T	10.37:g.13699459G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	CCDS7101.1																																																																																				0.677	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1		NM_018027	
FYN	2534	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	111983021	111983021	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr6:111983021G>T	ENST00000354650.3	-	14	2141	c.1535C>A	c.(1534-1536)aCt>aAt	p.T512N	FYN_ENST00000368678.4_Missense_Mutation_p.T509N|FYN_ENST00000356013.2_Missense_Mutation_p.T457N|FYN_ENST00000368682.3_Missense_Mutation_p.T509N|FYN_ENST00000229471.4_Missense_Mutation_p.T457N|FYN_ENST00000368667.2_Missense_Mutation_p.T512N|FYN_ENST00000538466.1_Missense_Mutation_p.T509N|FYN_ENST00000229470.5_Missense_Mutation_p.T460N	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	512	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.T509N(1)|p.T512N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	GTACTCAAAAGTGGGGCGTTC	0.572																																																	2	Substitution - Missense(2)	kidney(2)											142.0	149.0	147.0					6																	111983021		2203	4300	6503	SO:0001583	missense	2534			AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1535C>A	6.37:g.111983021G>T	ENSP00000346671:p.Thr512Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047204	0.75846	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792	T;T;T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6	5.81	5.81	0.92471	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.66297	2.02	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.956;0.99;1.0	T	0.02471	-1.1154	10	0.87932	D	0	.	20.089	0.97809	0.0:0.0:1.0:0.0	.	512;457;509	P06241;P06241-3;E1P556	FYN_HUMAN;.;.	N	509;512;457;512;509;460;457;509;460	ENSP00000357671:T509N;ENSP00000346671:T512N;ENSP00000229471:T457N;ENSP00000357656:T512N;ENSP00000357667:T509N;ENSP00000229470:T460N;ENSP00000348295:T457N;ENSP00000440646:T509N	ENSP00000229470:T460N	T	-	2	0	FYN	112089714	1.000000	0.71417	0.929000	0.37066	0.972000	0.66771	9.841000	0.99482	2.752000	0.94435	0.557000	0.71058	ACT		0.572	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			
GDF9	2661	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	132197841	132197841	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr5:132197841C>T	ENST00000378673.2	-	3	1671	c.805G>A	c.(805-807)Gac>Aac	p.D269N	GDF9_ENST00000464378.1_5'Flank|GDF9_ENST00000296875.2_Missense_Mutation_p.D269N			O60383	GDF9_HUMAN	growth differentiation factor 9	269					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.D269N(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCACTTGTGTCATTCAAATAT	0.458																																																	1	Substitution - Missense(1)	kidney(1)											72.0	71.0	71.0					5																	132197841		2203	4300	6503	SO:0001583	missense	2661				CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.805G>A	5.37:g.132197841C>T	ENSP00000367942:p.Asp269Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q4VAW5	Missense_Mutation	SNP	ENST00000378673.2	37	CCDS4162.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189302	0.94923	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	D;D	0.87103	-2.21;-2.21	5.51	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.93828	0.8026	M	0.87827	2.91	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94201	0.7450	10	0.87932	D	0	.	14.6627	0.68885	0.0:0.9283:0.0:0.0717	.	269	O60383	GDF9_HUMAN	N	269	ENSP00000367942:D269N;ENSP00000296875:D269N	ENSP00000296875:D269N	D	-	1	0	GDF9	132225740	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.688000	0.68227	2.890000	0.99128	0.650000	0.86243	GAC		0.458	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2		NM_005260	
GABRA1	2554	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	161302567	161302567	+	Splice_Site	SNP	C	C	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr5:161302567C>T	ENST00000428797.2	+	7	833	c.478C>T	c.(478-480)Ctg>Ttg	p.L160L	GABRA1_ENST00000420560.1_Splice_Site_p.L160L|GABRA1_ENST00000023897.6_Splice_Site_p.L160L|GABRA1_ENST00000393943.4_Splice_Site_p.L160L|GABRA1_ENST00000444819.1_Splice_Site_p.L160L|GABRA1_ENST00000437025.2_Splice_Site_p.L160L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	160					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L160L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCCCTTAAGGCTGACAGTGAG	0.363																																																	1	Substitution - coding silent(1)	kidney(1)											159.0	155.0	156.0					5																	161302567		2203	4300	6503	SO:0001630	splice_region_variant	2554				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.477-1C>T	5.37:g.161302567C>T		Somatic		WXS	Illumina HiSeq	Phase_I	D3DQK6|Q8N629	Silent	SNP	ENST00000428797.2	37	CCDS4357.1																																																																																				0.363	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2		NM_000806.5	Silent
GDPD5	81544	broad.mit.edu	37	11	75160647	75160647	+	Silent	SNP	C	C	T	rs373585381		TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr11:75160647C>T	ENST00000336898.3	-	8	1320	c.483G>A	c.(481-483)gcG>gcA	p.A161A	GDPD5_ENST00000529721.1_Silent_p.A161A|GDPD5_ENST00000526177.1_Silent_p.A23A|GDPD5_ENST00000533784.1_Silent_p.A42A|GDPD5_ENST00000533805.1_5'UTR|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000376282.3_Silent_p.A42A	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	161					cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)	p.A161A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GCAGGAATGGCGCTGTGCCCT	0.617																																																	1	Substitution - coding silent(1)	kidney(1)						C		1,4391		0,1,2195	36.0	32.0	34.0		483	-11.4	0.0	11		34	1,8575		0,1,4287	no	coding-synonymous	GDPD5	NM_030792.6		0,2,6482	TT,TC,CC		0.0117,0.0228,0.0154		161/606	75160647	2,12966	2196	4288	6484	SO:0001819	synonymous_variant	81544			AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.483G>A	11.37:g.75160647C>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Silent	SNP	ENST00000336898.3	37	CCDS8238.1																																																																																				0.617	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1		NM_030792	
GFRA3	2676	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137593484	137593484	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr5:137593484G>A	ENST00000274721.3	-	4	875	c.629C>T	c.(628-630)cCc>cTc	p.P210L	GFRA3_ENST00000378362.3_Missense_Mutation_p.P179L	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	210					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)	p.P210L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTGCGCGTGGGGCTCGGCGGC	0.731																																																	1	Substitution - Missense(1)	kidney(1)											20.0	22.0	21.0					5																	137593484		2189	4280	6469	SO:0001583	missense	2676			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.629C>T	5.37:g.137593484G>A	ENSP00000274721:p.Pro210Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	ENST00000274721.3	37	CCDS4201.1	.	.	.	.	.	.	.	.	.	.	G	7.558	0.664137	0.14710	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.65732	-0.17;-0.17	4.81	-0.43	0.12299	GDNF/GAS1 (2);	0.599272	0.17279	N	0.180093	T	0.45256	0.1333	L	0.44542	1.39	0.09310	N	1	P;P	0.45212	0.822;0.853	B;B	0.37239	0.157;0.244	T	0.35674	-0.9779	10	0.36615	T	0.2	-2.981	7.8474	0.29433	0.0:0.1236:0.4265:0.4499	.	179;210	O60609-2;O60609	.;GFRA3_HUMAN	L	210;179	ENSP00000274721:P210L;ENSP00000367613:P179L	ENSP00000274721:P210L	P	-	2	0	GFRA3	137621383	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	1.377000	0.34317	-0.010000	0.14271	-0.165000	0.13383	CCC		0.731	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1		NM_001496	
GUSB	2990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	65439619	65439619	+	Missense_Mutation	SNP	C	C	T	rs377615121		TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr7:65439619C>T	ENST00000304895.4	-	7	1268	c.1138G>A	c.(1138-1140)Gct>Act	p.A380T	GUSB_ENST00000421103.1_Missense_Mutation_p.A234T|GUSB_ENST00000345660.6_Missense_Mutation_p.A329T|GUSB_ENST00000476486.1_5'Flank	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	380					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)	p.A380T(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						GTACGGAAAGCGTTGGCACCA	0.592																																																	1	Substitution - Missense(1)	kidney(1)						C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	92.0	84.0	87.0		1138	-3.9	0.5	7		87	0,8600		0,0,4300	no	missense	GUSB	NM_000181.3	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	380/652	65439619	1,13005	2203	4300	6503	SO:0001583	missense	2990			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1138G>A	7.37:g.65439619C>T	ENSP00000302728:p.Ala380Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	ENST00000304895.4	37	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926159	0.52759	2.27E-4	0.0	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.95821	-3.82;-3.82;-3.82	4.52	-3.92	0.04155	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, family 2, conserved site (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 2, TIM barrel (1);	0.339317	0.35970	N	0.002875	D	0.94588	0.8256	L	0.53780	1.695	0.36633	D	0.876401	D;P	0.56287	0.975;0.805	P;B	0.50825	0.651;0.201	D	0.92952	0.6381	10	0.56958	D	0.05	.	19.0272	0.92937	0.8771:0.1229:0.0:0.0	.	234;380	E9PCV0;P08236	.;BGLR_HUMAN	T	380;234;329	ENSP00000302728:A380T;ENSP00000391390:A234T;ENSP00000340734:A329T	ENSP00000302728:A380T	A	-	1	0	GUSB	65077054	0.977000	0.34250	0.491000	0.27477	0.684000	0.39900	1.059000	0.30517	-0.470000	0.06901	-0.397000	0.06425	GCT		0.592	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3		NM_000181	
KCNA1	3736	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	5021702	5021702	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr12:5021702G>T	ENST00000382545.3	+	2	2265	c.1158G>T	c.(1156-1158)aaG>aaT	p.K386N	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	386					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.K386N(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	TTGGAGGCAAGATCGTGGGCT	0.522																																																	1	Substitution - Missense(1)	kidney(1)											303.0	282.0	289.0					12																	5021702		2203	4300	6503	SO:0001583	missense	3736			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1158G>T	12.37:g.5021702G>T	ENSP00000371985:p.Lys386Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943639	0.53079	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.97959	-4.63	4.9	4.9	0.64082	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99187	0.9718	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98490	1.0609	10	0.87932	D	0	.	6.9923	0.24761	0.1828:0.0:0.8172:0.0	.	386	Q09470	KCNA1_HUMAN	N	386	ENSP00000371985:K386N	ENSP00000228858:K386N	K	+	3	2	KCNA1	4891963	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.048000	0.49862	2.691000	0.91804	0.655000	0.94253	AAG		0.522	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2		NM_000217	
ITPR2	3709	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	26540497	26540497	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr12:26540497G>T	ENST00000381340.3	-	55	8143	c.7727C>A	c.(7726-7728)aCg>aAg	p.T2576K	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2576					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.T2576K(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AAATGAAACCGTTTTATTATC	0.348																																																	1	Substitution - Missense(1)	kidney(1)											128.0	114.0	118.0					12																	26540497		1869	4107	5976	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7727C>A	12.37:g.26540497G>T	ENSP00000370744:p.Thr2576Lys	Somatic		WXS	Illumina HiSeq	Phase_I	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137955	0.94517	.	.	ENSG00000123104	ENST00000381340	T	0.39406	1.08	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.62405	0.2425	L	0.60904	1.88	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60622	-0.7227	10	0.45353	T	0.12	.	18.736	0.91755	0.0:0.0:1.0:0.0	.	2576	Q14571	ITPR2_HUMAN	K	2576	ENSP00000370744:T2576K	ENSP00000370744:T2576K	T	-	2	0	ITPR2	26431764	1.000000	0.71417	0.838000	0.33150	0.905000	0.53344	9.570000	0.98174	2.637000	0.89404	0.563000	0.77884	ACG		0.348	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1		NM_002223	
KIF4A	24137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	69622533	69622533	+	Silent	SNP	T	T	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chrX:69622533T>C	ENST00000374403.3	+	23	2689	c.2607T>C	c.(2605-2607)taT>taC	p.Y869Y	KIF4A_ENST00000374388.3_Silent_p.Y869Y	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	869	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.Y869Y(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CCCTGAAATATTTGATTGGAG	0.443																																																	1	Substitution - coding silent(1)	kidney(1)											72.0	57.0	62.0					X																	69622533		2203	4300	6503	SO:0001819	synonymous_variant	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2607T>C	X.37:g.69622533T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Silent	SNP	ENST00000374403.3	37	CCDS14401.1																																																																																				0.443	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1		NM_012310	
PPP1R21	129285	broad.mit.edu;hgsc.bcm.edu	37	2	48681713	48681713	+	Intron	SNP	T	T	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr2:48681713T>C	ENST00000294952.8	+	3	283				PPP1R21_ENST00000281394.4_Intron|PPP1R21_ENST00000449090.2_Intron	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21							membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						TGAGGACCAATCTGTTTTCAC	0.323																																																	0													46.0	44.0	45.0					2																	48681713		2203	4300	6503	SO:0001627	intron_variant	0			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.127-21T>C	2.37:g.48681713T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	RNA	SNP	ENST00000294952.8	37	CCDS46278.1																																																																																				0.323	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4		NM_152994	
KRT82	3888	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52788815	52788815	+	Missense_Mutation	SNP	G	G	A	rs139996519		TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr12:52788815G>A	ENST00000257974.2	-	9	1563	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	496	Tail.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.R496W(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CTGGATTTCCGCCCGCTCCCA	0.642																																																	1	Substitution - Missense(1)	kidney(1)						G	TRP/ARG	0,4406		0,0,2203	49.0	49.0	49.0		1486	-1.4	0.0	12	dbSNP_134	49	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT82	NM_033033.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	496/514	52788815	1,13005	2203	4300	6503	SO:0001583	missense	3888			Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.1486C>T	12.37:g.52788815G>A	ENSP00000257974:p.Arg496Trp	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000257974.2	37	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070250	0.55539	0.0	1.16E-4	ENSG00000161850	ENST00000257974	D	0.82984	-1.67	4.59	-1.42	0.08913	.	0.753921	0.10873	N	0.624709	T	0.60805	0.2297	N	0.08118	0	0.09310	N	1	D	0.63880	0.993	B	0.41135	0.348	T	0.57505	-0.7800	10	0.39692	T	0.17	.	4.6736	0.12701	0.1724:0.0:0.3784:0.4492	.	496	Q9NSB4	KRT82_HUMAN	W	496	ENSP00000257974:R496W	ENSP00000257974:R496W	R	-	1	2	KRT82	51075082	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.809000	0.04510	-0.155000	0.11098	0.561000	0.74099	CGG		0.642	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1		NM_033033	
IGLV1-51	28820	broad.mit.edu	37	22	22677327	22677327	+	RNA	SNP	A	A	G			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr22:22677327A>G	ENST00000390290.2	+	0	391				BMS1P20_ENST00000426066.1_RNA					immunoglobulin lambda variable 1-51																		GAGTGCTGGCACAGTGCTCCA	0.612																																																	0													25.0	29.0	27.0					22																	22677327		2077	4204	6281			96610			Z73661		22q11.2	2012-02-08			ENSG00000211644	ENSG00000211644		"""Immunoglobulins / IGL locus"""	5882	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151035		22.37:g.22677327A>G		Somatic		WXS	Illumina GAIIx	Phase_I		Splice_Site	SNP	ENST00000390290.2	37																																																																																					0.612	IGLV1-51-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321094.1		NG_000002	
SLCO1B7	338821	broad.mit.edu;ucsc.edu	37	12	21172281	21172281	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr12:21172281T>C	ENST00000421593.2	+	2	185	c.185T>C	c.(184-186)aTt>aCt	p.I62T	LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.I62T(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ACTGGAAGTATTTTGATGGCT	0.328																																																	1	Substitution - Missense(1)	kidney(1)											165.0	161.0	162.0					12																	21172281		2203	4300	6503	SO:0001583	missense	0			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.185T>C	12.37:g.21172281T>C	ENSP00000394168:p.Ile62Thr	Somatic		WXS	Illumina GAIIx	Phase_I	Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	14.97	2.692935	0.48202	.	.	ENSG00000205754	ENST00000421593	T	0.45276	0.9	3.31	3.31	0.37934	.	0.349556	0.31636	N	0.007302	T	0.44117	0.1278	L	0.56769	1.78	0.80722	D	1	P	0.35821	0.523	B	0.41466	0.358	T	0.49652	-0.8917	10	0.62326	D	0.03	.	11.8252	0.52263	0.0:0.0:0.0:1.0	.	62	G3V0H7	.	T	62	ENSP00000394168:I62T	ENSP00000394168:I62T	I	+	2	0	SLCO1B7	21063548	0.665000	0.27466	0.907000	0.35723	0.720000	0.41350	4.134000	0.57990	1.358000	0.45922	0.413000	0.27773	ATT		0.328	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1		NM_001009562	
MAP1LC3B2	643246	broad.mit.edu;hgsc.bcm.edu	37	12	117013990	117013990	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr12:117013990delG	ENST00000556529.1	+	1	335	c.243delG	c.(241-243)ctgfs	p.L82fs	MAP1LC3B2_ENST00000306985.4_Frame_Shift_Del_p.L82fs			A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	82					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|microtubule (GO:0005874)				breast(1)|large_intestine(2)|lung(3)	6						CCTTCTTCCTGTTGGTGAACG	0.453																																																	0													111.0	110.0	110.0					12																	117013990		2203	4298	6501	SO:0001589	frameshift_variant	643246				CCDS41841.1	12q24.22	2014-02-12			ENSG00000171471	ENSG00000171471			34390	protein-coding gene	gene with protein product							Standard	NM_001085481		Approved	ATG8G	uc009zwk.1	A6NCE7		ENST00000556529.1:c.243delG	12.37:g.117013990delG	ENSP00000450524:p.Leu82fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000556529.1	37	CCDS41841.1																																																																																				0.453	MAP1LC3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413900.1		NM_001085481	
KMT2A	4297	hgsc.bcm.edu;ucsc.edu	37	11	118348895	118348896	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr11:118348895_118348896insT	ENST00000389506.5	+	5	3548_3549	c.3548_3549insT	c.(3547-3552)aatatafs	p.I1184fs	KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.I1184fs|KMT2A_ENST00000534358.1_Frame_Shift_Ins_p.I1184fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1184					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GGTGGTCGCAATATAAAGAAGC	0.48																																																	0																																										SO:0001589	frameshift_variant	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.3549dupT	11.37:g.118348896_118348896dupT	ENSP00000374157:p.Ile1184fs	Somatic		WXS	Illumina HiSeq	Phase_I	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Ins	INS	ENST00000389506.5	37	CCDS31686.1																																																																																				0.480	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933	
MOCOS	55034	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	33785102	33785102	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr18:33785102T>A	ENST00000261326.5	+	6	1102	c.1081T>A	c.(1081-1083)Tcc>Acc	p.S361T		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase									p.S361T(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CGTGGCCCTGTCCTCTCTCCA	0.478																																																	1	Substitution - Missense(1)	kidney(1)											110.0	102.0	105.0					18																	33785102		2203	4300	6503	SO:0001583	missense	55034			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1081T>A	18.37:g.33785102T>A	ENSP00000261326:p.Ser361Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000261326.5	37	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	T	0.190	-1.054048	0.01965	.	.	ENSG00000075643	ENST00000261326	D	0.87334	-2.24	5.89	0.758	0.18432	Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.448200	0.26038	N	0.026707	T	0.75280	0.3828	L	0.28458	0.855	0.19945	N	0.999942	B	0.06786	0.001	B	0.12837	0.008	T	0.56105	-0.8034	10	0.13470	T	0.59	-6.8435	8.8356	0.35111	0.1065:0.0:0.4477:0.4458	.	361	Q96EN8	MOCOS_HUMAN	T	361	ENSP00000261326:S361T	ENSP00000261326:S361T	S	+	1	0	MOCOS	32039100	1.000000	0.71417	0.050000	0.19076	0.073000	0.16967	1.322000	0.33689	0.113000	0.18004	-1.036000	0.02392	TCC		0.478	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			
MOV10L1	54456	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50555733	50555733	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr22:50555733A>C	ENST00000262794.5	+	9	1490	c.1407A>C	c.(1405-1407)caA>caC	p.Q469H	MOV10L1_ENST00000540615.1_Missense_Mutation_p.Q449H|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.Q469H|MOV10L1_ENST00000395858.3_Missense_Mutation_p.Q469H	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	469					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.Q469H(1)|p.Q449H(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AAAGTTCACAAGCGTTAACAT	0.428																																																	2	Substitution - Missense(2)	kidney(2)											65.0	62.0	63.0					22																	50555733		2203	4300	6503	SO:0001583	missense	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1407A>C	22.37:g.50555733A>C	ENSP00000262794:p.Gln469His	Somatic		WXS	Illumina HiSeq	Phase_I	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.322742	0.60634	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;T;D	0.85955	-1.86;-1.86;-1.45;-2.05	5.76	-6.51	0.01878	.	0.758668	0.13132	N	0.411384	D	0.84942	0.5584	L	0.51422	1.61	0.20307	N	0.999919	D;D;D;D	0.61080	0.989;0.979;0.964;0.964	P;P;B;B	0.58820	0.846;0.632;0.428;0.428	T	0.80826	-0.1209	10	0.46703	T	0.11	-8.1783	11.8078	0.52165	0.3577:0.1069:0.5354:0.0	.	230;449;469;469	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	H	469;469;469;449	ENSP00000438978:Q469H;ENSP00000262794:Q469H;ENSP00000379199:Q469H;ENSP00000438542:Q449H	ENSP00000262794:Q469H	Q	+	3	2	MOV10L1	48897860	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.980000	0.03770	-1.581000	0.01642	-0.256000	0.11100	CAA		0.428	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2		NM_018995	
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9067149	9067149	+	Missense_Mutation	SNP	G	G	A	rs200769888		TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr19:9067149G>A	ENST00000397910.4	-	3	20500	c.20297C>T	c.(20296-20298)tCg>tTg	p.S6766L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6768	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S6766L(2)|p.S2399L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCGCCATCGAGTGTGTTCC	0.483																																																	3	Substitution - Missense(3)	kidney(3)						G	LEU/SER	1,4401	2.1+/-5.4	0,1,2200	254.0	249.0	251.0		20297	-0.4	0.0	19		251	3,8589	3.0+/-9.4	0,3,4293	yes	missense	MUC16	NM_024690.2	145	0,4,6493	AA,AG,GG		0.0349,0.0227,0.0308	possibly-damaging	6766/14508	9067149	4,12990	2201	4296	6497	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20297C>T	19.37:g.9067149G>A	ENSP00000381008:p.Ser6766Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.684	0.310709	0.10733	2.27E-4	3.49E-4	ENSG00000181143	ENST00000397910	T	0.35605	1.3	2.06	-0.377	0.12501	.	.	.	.	.	T	0.20700	0.0498	N	0.24115	0.695	.	.	.	B	0.19200	0.034	B	0.06405	0.002	T	0.19289	-1.0310	8	0.87932	D	0	.	4.3025	0.10932	0.4186:0.0:0.5814:0.0	.	6766	B5ME49	.	L	6766	ENSP00000381008:S6766L	ENSP00000381008:S6766L	S	-	2	0	MUC16	8928149	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.621000	0.00878	-0.012000	0.14223	0.386000	0.25728	TCG		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
MYL6B	140465	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56548877	56548877	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr12:56548877G>C	ENST00000553066.1	+	4	663	c.241G>C	c.(241-243)Gat>Cat	p.D81H	MYL6B_ENST00000550443.1_Missense_Mutation_p.D81H|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000207437.5_Missense_Mutation_p.D81H|MYL6B_ENST00000552568.1_Missense_Mutation_p.D81H|MYL6B_ENST00000550152.1_3'UTR			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	81	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)	calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.D81H(1)		endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			CCGAGTGGGGGATGGCAAGAT	0.577																																																	1	Substitution - Missense(1)	kidney(1)											158.0	166.0	163.0					12																	56548877		2203	4300	6503	SO:0001583	missense	140465			M31211	CCDS8905.1	12q13.2	2013-01-10	2006-09-29			ENSG00000196465		"""Myosins / Light chain"", ""EF-hand domain containing"""	29823	protein-coding gene	gene with protein product	"""myosin light chain 1 slow a"""	609930	"""myosin, light polypeptide 6B, alkali, smooth muscle and non-muscle"""			2602161, 2304459	Standard	NM_002475		Approved	MLC1SA	uc001sjs.3	P14649		ENST00000553066.1:c.241G>C	12.37:g.56548877G>C	ENSP00000450385:p.Asp81His	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000553066.1	37	CCDS8905.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942008	0.73557	.	.	ENSG00000196465	ENST00000553066;ENST00000550443;ENST00000207437;ENST00000552568	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	4.28	4.28	0.50868	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92064	0.7485	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.99;0.993	D	0.94837	0.8001	10	0.87932	D	0	-13.9373	16.0117	0.80406	0.0:0.0:1.0:0.0	.	81;81	B4E368;P14649	.;MYL6B_HUMAN	H	81	ENSP00000450385:D81H;ENSP00000446643:D81H;ENSP00000207437:D81H;ENSP00000446965:D81H	ENSP00000207437:D81H	D	+	1	0	MYL6B	54835144	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	7.541000	0.82084	2.390000	0.81377	0.484000	0.47621	GAT		0.577	MYL6B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407920.2		NM_002475	
NCOA3	8202	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	46277767	46277767	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr20:46277767C>G	ENST00000371998.3	+	19	3756	c.3565C>G	c.(3565-3567)Cag>Gag	p.Q1189E	NCOA3_ENST00000341724.6_Missense_Mutation_p.Q1119E|NCOA3_ENST00000371997.3_Missense_Mutation_p.Q1184E|NCOA3_ENST00000372004.3_Missense_Mutation_p.Q1189E			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1189	Acetyltransferase.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1189E(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCAGAGCCGACAGGCACTTGA	0.517																																																	1	Substitution - Missense(1)	kidney(1)											79.0	72.0	75.0					20																	46277767		2203	4300	6503	SO:0001583	missense	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3565C>G	20.37:g.46277767C>G	ENSP00000361066:p.Gln1189Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481647	0.84747	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	T	0.65091	0.2658	M	0.69185	2.1	0.80722	D	1	P;D;B;B;B;P	0.57571	0.71;0.98;0.365;0.365;0.317;0.947	B;P;B;B;B;P	0.52881	0.257;0.712;0.08;0.08;0.126;0.519	T	0.68349	-0.5432	10	0.87932	D	0	-10.9264	17.7164	0.88338	0.0:1.0:0.0:0.0	.	1189;1184;1193;1189;1189;1189	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	E	1189;1119;1189;1189;1184	ENSP00000342123:Q1119E;ENSP00000361073:Q1189E;ENSP00000361066:Q1189E;ENSP00000361065:Q1184E	ENSP00000345671:Q1189E	Q	+	1	0	NCOA3	45711174	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	6.032000	0.70918	2.716000	0.92895	0.655000	0.94253	CAG		0.517	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1		NM_006534	
NDC80	10403	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	2616501	2616501	+	Silent	SNP	C	C	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr18:2616501C>T	ENST00000261597.4	+	17	2039	c.1857C>T	c.(1855-1857)ctC>ctT	p.L619L		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	619	Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.L619L(1)		NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						CAGAAGATCTCTCGGAAAATA	0.289																																																	1	Substitution - coding silent(1)	kidney(1)											43.0	46.0	45.0					18																	2616501		2200	4282	6482	SO:0001819	synonymous_variant	10403			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1857C>T	18.37:g.2616501C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6PJX2	Silent	SNP	ENST00000261597.4	37	CCDS11827.1																																																																																				0.289	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1		NM_006101	
NEB	4703	broad.mit.edu	37	2	152346999	152346999	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr2:152346999C>T	ENST00000172853.10	-	147	19763	c.19616G>A	c.(19615-19617)cGa>cAa	p.R6539Q	RIF1_ENST00000457745.1_Intron|NEB_ENST00000427231.2_Missense_Mutation_p.R8395Q|NEB_ENST00000397336.2_Missense_Mutation_p.R370Q|NEB_ENST00000509223.2_Missense_Mutation_p.R308Q|NEB_ENST00000603639.1_Missense_Mutation_p.R8395Q|NEB_ENST00000397345.3_Missense_Mutation_p.R8395Q|NEB_ENST00000604864.1_Missense_Mutation_p.R8395Q|NEB_ENST00000498015.2_5'Flank|NEB_ENST00000409198.1_Missense_Mutation_p.R6539Q			P20929	NEBU_HUMAN	nebulin	6539	Interaction with SVIL.				muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.R6539Q(1)|p.R8395Q(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACTGGCAGATCGTGACTGCTC	0.532																																																	2	Substitution - Missense(2)	kidney(2)											52.0	53.0	53.0					2																	152346999		2032	4207	6239	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19616G>A	2.37:g.152346999C>T	ENSP00000172853:p.Arg6539Gln	Somatic		WXS	Illumina GAIIx	Phase_I	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.527895|5.527895	0.96446|0.96446	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000397337;ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223	.|T;T;T;T;T;T;T	.|0.06371	.|3.43;3.46;3.46;3.31;3.43;4.02;4.18	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.26048|0.26048	0.0635|0.0635	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|D;D;D;B;D;P	.|0.89917	.|0.999;0.992;0.999;0.079;1.0;0.874	.|D;P;P;B;D;B	.|0.79108	.|0.978;0.806;0.848;0.013;0.992;0.254	T|T	0.00284|0.00284	-1.1848|-1.1848	5|10	.|0.54805	.|T	.|0.06	.|.	18.7735|18.7735	0.91901|0.91901	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|308;370;308;6539;2877;8395	.|B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5	.|.;.;.;NEBU_HUMAN;.;.	N|Q	529;636|6539;8395;8395;2495;2877;6539;370;308	.|ENSP00000386259:R6539Q;ENSP00000380505:R8395Q;ENSP00000416578:R8395Q;ENSP00000410961:R2877Q;ENSP00000172853:R6539Q;ENSP00000380497:R370Q;ENSP00000427083:R308Q	.|ENSP00000172853:R6539Q	D|R	-|-	1|2	0|0	NEB|NEB	152055245|152055245	1.000000|1.000000	0.71417|0.71417	0.895000|0.895000	0.35142|0.35142	0.851000|0.851000	0.48451|0.48451	7.762000|7.762000	0.85270|0.85270	2.526000|2.526000	0.85167|0.85167	0.462000|0.462000	0.41574|0.41574	GAT|CGA		0.532	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543	
NR3C1	2908	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	142779613	142779613	+	Silent	SNP	A	A	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr5:142779613A>C	ENST00000343796.2	-	2	1785	c.792T>G	c.(790-792)gtT>gtG	p.V264V	NR3C1_ENST00000231509.3_Silent_p.V264V|NR3C1_ENST00000394466.2_Silent_p.V264V|NR3C1_ENST00000394464.2_Silent_p.V264V|NR3C1_ENST00000504572.1_Silent_p.V264V|NR3C1_ENST00000424646.2_Silent_p.V264V|NR3C1_ENST00000503201.1_Silent_p.V264V|NR3C1_ENST00000415690.2_Silent_p.V264V|NR3C1_ENST00000416954.2_Intron	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	264	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)	p.V264V(2)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	GGCTTGACAAAACCAGATCTC	0.423																																																	2	Substitution - coding silent(2)	kidney(2)											140.0	146.0	144.0					5																	142779613		2203	4300	6503	SO:0001819	synonymous_variant	2908			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.792T>G	5.37:g.142779613A>C		Somatic		WXS	Illumina HiSeq	Phase_I	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Silent	SNP	ENST00000343796.2	37	CCDS4278.1																																																																																				0.423	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			
TENM2	57451	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	167687305	167687305	+	Missense_Mutation	SNP	G	G	A	rs534586794		TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr5:167687305G>A	ENST00000518659.1	+	28	7489	c.7450G>A	c.(7450-7452)Gtg>Atg	p.V2484M	TENM2_ENST00000545108.1_Missense_Mutation_p.V2483M|TENM2_ENST00000519204.1_Missense_Mutation_p.V2363M|TENM2_ENST00000403607.2_Missense_Mutation_p.V2308M|TENM2_ENST00000520394.1_Missense_Mutation_p.V2245M	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2484					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.V2363M(1)|p.V2484M(1)|p.V2317M(1)									AAGCTGGCTTGTGATGTTTGG	0.413																																																	3	Substitution - Missense(3)	kidney(3)											138.0	126.0	130.0					5																	167687305		1906	4136	6042	SO:0001583	missense	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7450G>A	5.37:g.167687305G>A	ENSP00000429430:p.Val2484Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	G	18.65	3.670384	0.67814	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89485	-2.05;-2.04;-2.15;-2.5;-2.52	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.94892	0.8349	M	0.82923	2.615	0.49582	D	0.999808	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.91635	0.999;0.997;0.991	D	0.94714	0.7895	10	0.49607	T	0.09	.	18.8615	0.92273	0.0:0.0:1.0:0.0	.	2483;2484;2245	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	M	2484;2483;2363;2245;2308	ENSP00000429430:V2484M;ENSP00000438635:V2483M;ENSP00000428964:V2363M;ENSP00000427874:V2245M;ENSP00000384905:V2308M	ENSP00000384905:V2308M	V	+	1	0	ODZ2	167619883	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.876000	0.87215	2.456000	0.83038	0.655000	0.94253	GTG		0.413	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1		NM_001122679	
OR2G2	81470	broad.mit.edu;ucsc.edu	37	1	247752478	247752478	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr1:247752478C>A	ENST00000320065.1	+	1	817	c.817C>A	c.(817-819)Cag>Aag	p.Q273K	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q273K(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATCCAGGGACCAGGGCAAGTT	0.473																																																	1	Substitution - Missense(1)	kidney(1)											142.0	135.0	138.0					1																	247752478		2203	4300	6503	SO:0001583	missense	81470			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.817C>A	1.37:g.247752478C>A	ENSP00000326349:p.Gln273Lys	Somatic		WXS	Illumina GAIIx	Phase_I	Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857313	0.51376	.	.	ENSG00000177489	ENST00000320065	T	0.00137	8.68	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	0.221310	0.22775	U	0.055798	T	0.00241	0.0007	L	0.38953	1.18	0.09310	N	0.999999	P	0.51933	0.949	P	0.60609	0.877	T	0.61515	-0.7047	10	0.45353	T	0.12	.	9.5446	0.39273	0.2099:0.7901:0.0:0.0	.	273	Q8NGZ5	OR2G2_HUMAN	K	273	ENSP00000326349:Q273K	ENSP00000326349:Q273K	Q	+	1	0	OR2G2	245819101	0.000000	0.05858	0.990000	0.47175	0.923000	0.55619	0.254000	0.18314	2.206000	0.71126	0.591000	0.81541	CAG		0.473	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			
OR2W3	343171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	248059809	248059809	+	Silent	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr1:248059809G>A	ENST00000360358.3	+	1	921	c.921G>A	c.(919-921)ggG>ggA	p.G307G	OR2W3_ENST00000537741.1_Silent_p.G307G	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G307G(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGCTTCTGGGGAAGAGAGAGC	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											31.0	31.0	31.0					1																	248059809		2203	4300	6503	SO:0001819	synonymous_variant	343171			N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.921G>A	1.37:g.248059809G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6IF06|Q8NG86	Silent	SNP	ENST00000360358.3	37	CCDS31099.1																																																																																				0.517	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1		NM_001001957	
PDE1B	5153	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	54962995	54962995	+	Silent	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr12:54962995G>A	ENST00000243052.3	+	4	691	c.255G>A	c.(253-255)ctG>ctA	p.L85L	PDE1B_ENST00000538346.1_Silent_p.L44L|PDE1B_ENST00000394277.3_Intron|PDE1B_ENST00000550620.1_Silent_p.L65L	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	85					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.L85L(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	AGGACGAGCTGCAGGAGCTGC	0.642																																																	1	Substitution - coding silent(1)	kidney(1)											70.0	73.0	72.0					12																	54962995		2203	4300	6503	SO:0001819	synonymous_variant	5153			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.255G>A	12.37:g.54962995G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q92825|Q96KP3	Silent	SNP	ENST00000243052.3	37	CCDS8882.1																																																																																				0.642	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			
PDE2A	5138	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	72300797	72300797	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr11:72300797G>A	ENST00000334456.5	-	11	1116	c.871C>T	c.(871-873)Ccc>Tcc	p.P291S	RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000418754.2_Missense_Mutation_p.P176S|PDE2A_ENST00000544570.1_Missense_Mutation_p.P284S|PDE2A_ENST00000540345.1_Missense_Mutation_p.P282S|PDE2A_ENST00000444035.2_Missense_Mutation_p.P282S|PDE2A_ENST00000376450.3_Intron	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	291	GAF 1.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.P291S(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	GGACTCACGGGAAAGCTGACC	0.577											OREG0021197	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											39.0	41.0	40.0					11																	72300797		2200	4293	6493	SO:0001583	missense	5138			U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.871C>T	11.37:g.72300797G>A	ENSP00000334910:p.Pro291Ser	Somatic	1136	WXS	Illumina HiSeq	Phase_I	B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	CCDS8216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.91|17.91	3.505349|3.505349	0.64410|0.64410	.|.	.|.	ENSG00000186642|ENSG00000186642	ENST00000334456;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000475807|ENST00000538299	T;T;T;T;T;T|.	0.74315|.	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83|.	4.59|4.59	4.59|4.59	0.56863|0.56863	GAF (2);|.	1.320840|.	0.05684|.	N|.	0.590965|.	T|T	0.66458|0.66458	0.2791|0.2791	M|M	0.71036|0.71036	2.16|2.16	0.48135|0.48135	D|D	0.999591|0.999591	B;B;B;B;B|.	0.34226|.	0.012;0.267;0.267;0.066;0.443|.	B;B;B;B;B|.	0.34346|.	0.007;0.124;0.124;0.052;0.18|.	T|T	0.66464|0.66464	-0.5917|-0.5917	10|5	0.62326|.	D|.	0.03|.	.|.	10.6231|10.6231	0.45491|0.45491	0.0935:0.0:0.9065:0.0|0.0935:0.0:0.9065:0.0	.|.	176;291;282;284;291|.	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646|.	.;PDE2A_HUMAN;.;.;.|.	S|F	291;282;360;284;176;282;115|52	ENSP00000334910:P291S;ENSP00000411657:P282S;ENSP00000442256:P284S;ENSP00000410310:P176S;ENSP00000446399:P282S;ENSP00000439077:P115S|.	ENSP00000334910:P291S|.	P|S	-|-	1|2	0|0	PDE2A|PDE2A	71978445|71978445	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	4.373000|4.373000	0.59537|0.59537	2.375000|2.375000	0.81037|0.81037	0.591000|0.591000	0.81541|0.81541	CCC|TCC		0.577	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2		NM_002599	
PIAS1	8554	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	68434675	68434675	+	Splice_Site	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr15:68434675G>A	ENST00000249636.6	+	4	750	c.602G>A	c.(601-603)aGg>aAg	p.R201K	PIAS1_ENST00000545237.1_Splice_Site_p.R203K	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	201	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R201K(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GTCCAGTTAAGGTACAGTGCT	0.353																																																	1	Substitution - Missense(1)	kidney(1)											51.0	48.0	49.0					15																	68434675		1817	4081	5898	SO:0001630	splice_region_variant	8554			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.602+1G>A	15.37:g.68434675G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	ENST00000249636.6	37	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	G	35	5.451607	0.96205	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.48836	0.8;0.8	5.09	5.09	0.68999	PINIT domain (1);	0.000000	0.85682	D	0.000000	T	0.74989	0.3789	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80598	-0.1311	10	0.87932	D	0	-11.4085	18.8568	0.92255	0.0:0.0:1.0:0.0	.	201;201	C5J4B4;O75925	.;PIAS1_HUMAN	K	201;203	ENSP00000249636:R201K;ENSP00000438574:R203K	ENSP00000249636:R201K	R	+	2	0	PIAS1	66221729	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.233000	0.95337	2.525000	0.85131	0.585000	0.79938	AGG		0.353	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			Missense_Mutation
PKDREJ	10343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	46655753	46655753	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr22:46655753G>A	ENST00000253255.5	-	1	3466	c.3467C>T	c.(3466-3468)aCc>aTc	p.T1156I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1156					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.T1156I(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CACATAGTGGGTATGCAGGTG	0.517																																																	1	Substitution - Missense(1)	kidney(1)											176.0	158.0	164.0					22																	46655753		2203	4300	6503	SO:0001583	missense	10343			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3467C>T	22.37:g.46655753G>A	ENSP00000253255:p.Thr1156Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473495	0.26423	.	.	ENSG00000130943	ENST00000253255	T	0.34859	1.34	5.23	-2.17	0.07059	GPS domain (1);	0.317451	0.22619	N	0.057722	T	0.23766	0.0575	L	0.54323	1.7	0.09310	N	1	B	0.18310	0.027	B	0.12837	0.008	T	0.29427	-1.0012	10	0.12430	T	0.62	-6.5887	6.5449	0.22400	0.5191:0.0:0.3592:0.1217	.	1156	Q9NTG1	PKDRE_HUMAN	I	1156	ENSP00000253255:T1156I	ENSP00000253255:T1156I	T	-	2	0	PKDREJ	45034417	0.000000	0.05858	0.001000	0.08648	0.729000	0.41735	0.514000	0.22786	-0.171000	0.10797	0.561000	0.74099	ACC		0.517	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1		NM_006071	
PLD3	23646	hgsc.bcm.edu;ucsc.edu	37	19	40876075	40876075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr19:40876075delG	ENST00000409587.1	+	8	1006	c.609delG	c.(607-609)aagfs	p.K203fs	PLD3_ENST00000409419.1_Frame_Shift_Del_p.K203fs|PLD3_ENST00000409281.1_Frame_Shift_Del_p.K203fs|PLD3_ENST00000356508.5_Frame_Shift_Del_p.K203fs|PLD3_ENST00000409735.4_Frame_Shift_Del_p.K203fs			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	203	PLD phosphodiesterase 1. {ECO:0000255|PROSITE-ProRule:PRU00153}.				cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			TGCATACCAAGTTCTGGGTGG	0.607																																																	0													105.0	82.0	90.0					19																	40876075		2203	4300	6503	SO:0001589	frameshift_variant	23646			BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.609delG	19.37:g.40876075delG	ENSP00000387050:p.Lys203fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q92853|Q9BW87	Frame_Shift_Del	DEL	ENST00000409587.1	37	CCDS33027.1																																																																																				0.607	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1		NM_012268	
PRELID1	27166	broad.mit.edu;hgsc.bcm.edu	37	5	176731056	176731056	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr5:176731056C>A	ENST00000303204.4	+	1	282	c.70C>A	c.(70-72)Cag>Aag	p.Q24K	PRELID1_ENST00000502670.1_3'UTR|RAB24_ENST00000393611.2_5'Flank|RAB24_ENST00000303251.6_5'Flank|PRELID1_ENST00000503216.1_Missense_Mutation_p.Q24K|RAB24_ENST00000303270.6_5'Flank			Q9Y255	PRLD1_HUMAN	PRELI domain containing 1	24					apoptotic process (GO:0006915)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial membrane potential (GO:0010917)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of cellular respiration (GO:1901857)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of T cell apoptotic process (GO:0070234)|regulation of membrane lipid distribution (GO:0097035)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of T cell differentiation (GO:0045580)	mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.Q24K(1)		endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	7	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCCTTCTGGCAGCGGTACCC	0.587																																																	1	Substitution - Missense(1)	kidney(1)											37.0	33.0	34.0					5																	176731056		2203	4300	6503	SO:0001583	missense	27166			BC013748	CCDS4415.1, CCDS64328.1	5q35.3	2010-01-18			ENSG00000169230	ENSG00000169230			30255	protein-coding gene	gene with protein product	"""protein of relevant evolutionary and lymphoid interest"", ""px19-like protein"""	605733				10784606, 14640972	Standard	NM_013237		Approved	CGI-106, PX19, PRELI	uc003mfx.4	Q9Y255	OTTHUMG00000130847	ENST00000303204.4:c.70C>A	5.37:g.176731056C>A	ENSP00000302114:p.Gln24Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5F7|D6RD25|Q549N2|Q9UI13|Q9UJS9	Missense_Mutation	SNP	ENST00000303204.4	37	CCDS4415.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528736	0.85706	.	.	ENSG00000169230	ENST00000303204;ENST00000503216	T;T	0.16457	2.34;2.34	4.72	4.72	0.59763	PRELI/MSF1 (2);	0.000000	0.85682	D	0.000000	T	0.17619	0.0423	L	0.42245	1.32	0.80722	D	1	B;B	0.22276	0.067;0.067	B;B	0.25614	0.062;0.048	T	0.04078	-1.0979	10	0.25751	T	0.34	-6.2288	16.4652	0.84077	0.0:1.0:0.0:0.0	.	24;24	D6RD25;Q9Y255	.;PRLD1_HUMAN	K	24	ENSP00000302114:Q24K;ENSP00000427097:Q24K	ENSP00000302114:Q24K	Q	+	1	0	PRELID1	176663662	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.885000	0.75606	2.171000	0.68590	0.462000	0.41574	CAG		0.587	PRELID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253414.1		NM_013237	
PRPSAP1	5635	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	74307778	74307778	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr17:74307778C>T	ENST00000446526.3	-	10	1448	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.V232M|PRPSAP1_ENST00000588364.1_5'UTR	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	306					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)	p.V306M(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						TTCGTCACCACCACCTAGTCA	0.438																																																	1	Substitution - Missense(1)	kidney(1)											106.0	86.0	93.0					17																	74307778		2203	4300	6503	SO:0001583	missense	5635			D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.1003G>A	17.37:g.74307778C>T	ENSP00000414624:p.Val335Met	Somatic		WXS	Illumina HiSeq	Phase_I	B2R6M4|Q96H06	Missense_Mutation	SNP	ENST00000446526.3	37	CCDS11743.2	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886334	0.72410	.	.	ENSG00000161542	ENST00000446526;ENST00000324684	T;T	0.78364	-1.17;-1.17	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.93167	0.7824	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.95324	0.8423	10	0.87932	D	0	.	19.6224	0.95663	0.0:1.0:0.0:0.0	.	306;335	Q14558;Q14558-2	KPRA_HUMAN;.	M	335;232	ENSP00000414624:V335M;ENSP00000314973:V232M	ENSP00000314973:V232M	V	-	1	0	PRPSAP1	71819373	1.000000	0.71417	1.000000	0.80357	0.249000	0.25844	7.818000	0.86416	2.630000	0.89119	0.655000	0.94253	GTG		0.438	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2		NM_002766	
PRRC2C	23215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	171510332	171510332	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr1:171510332G>A	ENST00000338920.4	+	16	3958	c.3721G>A	c.(3721-3723)Gaa>Aaa	p.E1241K	PRRC2C_ENST00000367742.3_Missense_Mutation_p.E1243K|PRRC2C_ENST00000426496.2_Missense_Mutation_p.E1241K|PRRC2C_ENST00000392078.3_Missense_Mutation_p.E1243K	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1241					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.E1243K(2)									ACAGCGAGAAGAAAGTGAAAC	0.488																																																	2	Substitution - Missense(2)	kidney(2)											59.0	60.0	60.0					1																	171510332		2203	4300	6503	SO:0001583	missense	23215			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3721G>A	1.37:g.171510332G>A	ENSP00000343629:p.Glu1241Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668948	0.47677	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.01998	4.51;4.51;4.51;4.51	5.66	5.66	0.87406	.	0.000000	0.47852	D	0.000206	T	0.07188	0.0182	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.34675	-0.9819	10	0.45353	T	0.12	.	19.7628	0.96329	0.0:0.0:1.0:0.0	.	1241	Q9Y520-4	.	K	1243;1242;1241;1243;1241;998	ENSP00000375928:E1243K;ENSP00000410219:E1241K;ENSP00000356716:E1243K;ENSP00000343629:E1241K	ENSP00000343629:E1241K	E	+	1	0	PRRC2C	169776956	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.407000	0.97325	2.653000	0.90120	0.563000	0.77884	GAA		0.488	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4		NM_015172	
RIN3	79890	hgsc.bcm.edu;ucsc.edu	37	14	93043822	93043824	+	Splice_Site	DEL	AGT	AGT	-			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	AGT	AGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr14:93043822_93043824delAGT	ENST00000216487.7	+	3	526	c.367delAGT	c.(367-369)agt>gt	p.S123del	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	123	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGAAAAGTCGAGTAAGTACCCAT	0.527																																																	0																																										SO:0001630	splice_region_variant	79890			BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.367+1AGT>-	14.37:g.93043822_93043824delAGT		Somatic		WXS	Illumina HiSeq	Phase_I	Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Frame_Shift_Del	DEL	ENST00000216487.7	37	CCDS32144.1																																																																																				0.527	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			In_Frame_Del
ROM1	6094	hgsc.bcm.edu	37	11	62381083	62381083	+	Frame_Shift_Del	DEL	T	T	-	rs527236104|rs137955062|rs71458427		TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr11:62381083delT	ENST00000278833.3	+	1	871	c.330delT	c.(328-330)ggtfs	p.G113fs	EML3_ENST00000494176.2_5'Flank|EML3_ENST00000531557.1_5'Flank|EML3_ENST00000278845.4_5'Flank|EML3_ENST00000394773.2_5'Flank|ROM1_ENST00000534093.1_Intron|EML3_ENST00000529309.1_5'Flank	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	113					camera-type eye photoreceptor cell differentiation (GO:0060219)|cell adhesion (GO:0007155)|regulation of gene expression (GO:0010468)|retina vasculature development in camera-type eye (GO:0061298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						GCACGGCTGGTGGGGGGGGGC	0.682																																																	0													14.0	17.0	16.0					11																	62381083		2194	4287	6481	SO:0001589	frameshift_variant	6094			L07894	CCDS8024.1	11q13	2013-02-14				ENSG00000149489		"""Tetraspanins"""	10254	protein-coding gene	gene with protein product		180721				8504299	Standard	NM_000327		Approved	TSPAN23, ROM	uc001ntv.3	Q03395		ENST00000278833.3:c.330delT	11.37:g.62381083delT	ENSP00000278833:p.Gly113fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R978	Frame_Shift_Del	DEL	ENST00000278833.3	37	CCDS8024.1																																																																																				0.682	ROM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394929.1		NM_000327	
RTL1	388015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	101351082	101351082	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr14:101351082T>C	ENST00000534062.1	-	1	102	c.44A>G	c.(43-45)cAt>cGt	p.H15R	MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	15					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)		p.H15R(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TGGATTCTTATGCTCCATCAT	0.527																																																	1	Substitution - Missense(1)	kidney(1)											36.0	34.0	35.0					14																	101351082		1568	3582	5150	SO:0001583	missense	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.44A>G	14.37:g.101351082T>C	ENSP00000435342:p.His15Arg	Somatic		WXS	Illumina HiSeq	Phase_I	E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	T	13.53	2.263489	0.39995	.	.	ENSG00000254656	ENST00000534062	T	0.19806	2.12	3.48	-3.56	0.04626	.	.	.	.	.	T	0.04497	0.0123	N	0.02539	-0.55	0.20926	N	0.999826	B	0.02656	0.0	B	0.01281	0.0	T	0.34378	-0.9831	9	0.02654	T	1	.	0.0742	0.00025	0.3203:0.2345:0.1746:0.2706	.	15	E9PKS8	.	R	15	ENSP00000435342:H15R	ENSP00000435342:H15R	H	-	2	0	RTL1	100420835	0.911000	0.30947	0.984000	0.44739	0.998000	0.95712	-0.639000	0.05446	-0.728000	0.04882	0.459000	0.35465	CAT		0.527	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1		NM_001134888	
SAMD3	154075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	130465867	130465867	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr6:130465867T>A	ENST00000368134.2	-	14	1969	c.1361A>T	c.(1360-1362)gAg>gTg	p.E454V	SAMD3_ENST00000437477.2_Missense_Mutation_p.E454V|RP11-73O6.3_ENST00000609978.1_RNA|RP11-73O6.3_ENST00000415964.1_RNA|SAMD3_ENST00000457563.2_Missense_Mutation_p.E478V|SAMD3_ENST00000439090.2_Missense_Mutation_p.E454V	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	454								p.E454V(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TGTGAGCCTCTCCCTTTCTAA	0.443																																																	1	Substitution - Missense(1)	kidney(1)											62.0	62.0	62.0					6																	130465867		2203	4300	6503	SO:0001583	missense	154075			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.1361A>T	6.37:g.130465867T>A	ENSP00000357116:p.Glu454Val	Somatic		WXS	Illumina HiSeq	Phase_I	B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.852708	0.51270	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477	T;T;T;T	0.50277	0.77;0.75;0.77;0.77	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000011	T	0.52533	0.1740	M	0.64997	1.995	0.80722	D	1	D	0.64830	0.994	P	0.62089	0.898	T	0.52049	-0.8627	10	0.36615	T	0.2	.	14.0821	0.64932	0.0:0.0:0.0:1.0	.	454	Q8N6K7	SAMD3_HUMAN	V	454;478;454;454	ENSP00000357116:E454V;ENSP00000402092:E478V;ENSP00000403565:E454V;ENSP00000391163:E454V	ENSP00000357116:E454V	E	-	2	0	SAMD3	130507560	1.000000	0.71417	1.000000	0.80357	0.100000	0.18952	5.128000	0.64733	2.118000	0.64928	0.460000	0.39030	GAG		0.443	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3		NM_152552	
SCARF1	8578	broad.mit.edu	37	17	1540047	1540047	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr17:1540047C>T	ENST00000263071.4	-	10	1638	c.1589G>A	c.(1588-1590)gGa>gAa	p.G530E	SCARF1_ENST00000571272.1_Missense_Mutation_p.E518K|SCARF1_ENST00000348987.3_Missense_Mutation_p.G444E	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	530	Pro/Ser-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.G530E(1)		cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ATCTGCCTCTCCAGACTCAGG	0.627																																																	1	Substitution - Missense(1)	kidney(1)											84.0	85.0	85.0					17																	1540047		2203	4300	6503	SO:0001583	missense	8578			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1589G>A	17.37:g.1540047C>T	ENSP00000263071:p.Gly530Glu	Somatic		WXS	Illumina GAIIx	Phase_I	A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	CCDS11007.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.372|9.372	1.070642|1.070642	0.20147|0.20147	.|.	.|.	ENSG00000074660|ENSG00000074660	ENST00000434376|ENST00000263071;ENST00000348987	.|T;T	.|0.31510	.|2.01;1.49	4.52|4.52	-0.0812|-0.0812	0.13703|0.13703	.|.	.|0.505200	.|0.16613	.|N	.|0.206827	T|T	0.37433|0.37433	0.1003|0.1003	.|.	.|.	.|.	0.37734|0.37734	D|D	0.925387|0.925387	B|D;B	0.10296|0.64830	0.003|0.994;0.002	B|D;B	0.08055|0.63192	0.003|0.912;0.006	T|T	0.35871|0.35871	-0.9771|-0.9771	7|9	0.07325|0.18276	T|T	0.83|0.48	-1.0666|-1.0666	7.3418|7.3418	0.26641|0.26641	0.0:0.4021:0.4517:0.1461|0.0:0.4021:0.4517:0.1461	.|.	518|444;530	Q14162-3|Q14162-2;Q14162	.|.;SREC_HUMAN	K|E	518|530;444	.|ENSP00000263071:G530E;ENSP00000323964:G444E	ENSP00000411167:E518K|ENSP00000263071:G530E	E|G	-|-	1|2	0|0	SCARF1|SCARF1	1486797|1486797	0.016000|0.016000	0.18221|0.18221	0.283000|0.283000	0.24790|0.24790	0.085000|0.085000	0.17905|0.17905	0.616000|0.616000	0.24344|0.24344	-0.023000|-0.023000	0.13963|0.13963	-1.270000|-1.270000	0.01421|0.01421	GAG|GGA		0.627	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4		NM_003693	
SLAMF7	57823	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160719769	160719769	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr1:160719769A>G	ENST00000368043.3	+	3	572	c.535A>G	c.(535-537)Atc>Gtc	p.I179V	SLAMF7_ENST00000458602.2_Missense_Mutation_p.I72V|SLAMF7_ENST00000458104.2_Missense_Mutation_p.I72V|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000368042.3_Missense_Mutation_p.I72V|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000359331.4_Missense_Mutation_p.I179V	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	179	Ig-like C2-type.				cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.I179V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TAATGGGTCCATCCTCCCCAT	0.527																																																	1	Substitution - Missense(1)	kidney(1)											90.0	94.0	93.0					1																	160719769		2203	4300	6503	SO:0001583	missense	57823			AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.535A>G	1.37:g.160719769A>G	ENSP00000357022:p.Ile179Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Missense_Mutation	SNP	ENST00000368043.3	37	CCDS1209.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.696702	0.00725	.	.	ENSG00000026751	ENST00000368043;ENST00000368042;ENST00000458602;ENST00000458104;ENST00000359331	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	5.16	-1.96	0.07525	Immunoglobulin-like (1);	1.171350	0.05924	N	0.633989	T	0.06735	0.0172	N	0.25380	0.74	0.09310	N	1	B;B;P;B;P;B	0.35551	0.28;0.1;0.453;0.095;0.509;0.153	B;B;B;B;B;B	0.38056	0.13;0.038;0.172;0.12;0.264;0.096	T	0.10064	-1.0646	10	0.06625	T	0.88	-5.2182	4.7708	0.13155	0.4249:0.0:0.4175:0.1576	.	72;72;72;72;179;179	B4DVL7;B4DWA3;B4DW98;Q9NQ25-2;A8K3U1;Q9NQ25	.;.;.;.;.;SLAF7_HUMAN	V	179;72;72;72;179	ENSP00000357022:I179V;ENSP00000357021:I72V;ENSP00000409965:I72V;ENSP00000403294:I72V;ENSP00000352281:I179V	ENSP00000352281:I179V	I	+	1	0	SLAMF7	158986393	0.053000	0.20554	0.001000	0.08648	0.075000	0.17131	0.018000	0.13422	-0.525000	0.06391	0.528000	0.53228	ATC		0.527	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060464.1		NM_021181	
SLC29A1	2030	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	44198152	44198152	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr6:44198152C>T	ENST00000393841.1	+	7	1014	c.523C>T	c.(523-525)Ccc>Tcc	p.P175S	SLC29A1_ENST00000371755.3_Missense_Mutation_p.P175S|SLC29A1_ENST00000393844.1_Missense_Mutation_p.P175S|SLC29A1_ENST00000371740.5_Missense_Mutation_p.P175S|SLC29A1_ENST00000427851.2_Missense_Mutation_p.P175S|SLC29A1_ENST00000371731.1_Missense_Mutation_p.P175S|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371713.1_Missense_Mutation_p.P175S|SLC29A1_ENST00000313248.7_Missense_Mutation_p.P254S|SLC29A1_ENST00000371708.1_Missense_Mutation_p.P175S|SLC29A1_ENST00000371724.1_Missense_Mutation_p.P175S	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	175					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.P175S(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	CTACACGGCCCCCATCATGAG	0.627																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	2030			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.523C>T	6.37:g.44198152C>T	ENSP00000377424:p.Pro175Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	ENST00000393841.1	37	CCDS4908.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099668	0.76983	.	.	ENSG00000112759	ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	T;T;T;T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.75845	0.3905	L	0.53561	1.675	0.58432	D	0.999998	P;P	0.44044	0.825;0.717	P;P	0.46299	0.511;0.492	T	0.74844	-0.3526	10	0.32370	T	0.25	-2.5969	17.6367	0.88124	0.0:1.0:0.0:0.0	.	254;175	B3KQV7;Q99808	.;S29A1_HUMAN	S	175;254;175;175;175;175;175;175;175;175	ENSP00000377427:P175S;ENSP00000319152:P254S;ENSP00000392668:P175S;ENSP00000360820:P175S;ENSP00000360805:P175S;ENSP00000360796:P175S;ENSP00000377424:P175S;ENSP00000360789:P175S;ENSP00000360778:P175S;ENSP00000360773:P175S	ENSP00000319152:P254S	P	+	1	0	SLC29A1	44306130	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.674000	0.68117	2.585000	0.87301	0.655000	0.94253	CCC		0.627	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			
SLC47A2	146802	hgsc.bcm.edu;ucsc.edu	37	17	19606416	19606416	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr17:19606416delA	ENST00000325411.5	-	12	1241	c.1191delT	c.(1189-1191)tttfs	p.F397fs	SLC47A2_ENST00000350657.5_Frame_Shift_Del_p.F375fs|SLC47A2_ENST00000463318.1_Intron	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	397					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	CATCATTGGTAAAAATATGCC	0.463																																																	0													71.0	68.0	69.0					17																	19606416		2203	4300	6503	SO:0001589	frameshift_variant	146802			AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.1191delT	17.37:g.19606416delA	ENSP00000326671:p.Phe397fs	Somatic		WXS	Illumina HiSeq	Phase_I	A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Frame_Shift_Del	DEL	ENST00000325411.5	37	CCDS11211.1																																																																																				0.463	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2		NM_152908	
STC2	8614	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	172755100	172755100	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr5:172755100C>A	ENST00000265087.4	-	1	1406	c.97G>T	c.(97-99)Ggt>Tgt	p.G33C		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	33					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)	p.G33C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTTGGGGACCCTCGGGTGGG	0.652																																																	1	Substitution - Missense(1)	kidney(1)											100.0	105.0	103.0					5																	172755100		2203	4300	6503	SO:0001583	missense	8614			AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.97G>T	5.37:g.172755100C>A	ENSP00000265087:p.Gly33Cys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000265087.4	37	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511790	0.64522	.	.	ENSG00000113739	ENST00000265087	.	.	.	5.17	4.31	0.51392	.	0.145941	0.64402	D	0.000007	T	0.51822	0.1697	L	0.36672	1.1	0.39437	D	0.967187	P	0.51147	0.942	P	0.52514	0.701	T	0.56511	-0.7967	9	0.62326	D	0.03	-8.4479	9.822	0.40887	0.0:0.8428:0.0:0.1572	.	33	O76061	STC2_HUMAN	C	33	.	ENSP00000265087:G33C	G	-	1	0	STC2	172687706	0.935000	0.31712	0.989000	0.46669	0.564000	0.35744	1.715000	0.37971	1.428000	0.47296	-0.140000	0.14226	GGT		0.652	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1		NM_003714	
TAF4B	6875	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	23872291	23872291	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr18:23872291G>A	ENST00000269142.5	+	8	2670	c.1672G>A	c.(1672-1674)Gga>Aga	p.G558R	TAF4B_ENST00000400466.2_Missense_Mutation_p.G558R|TAF4B_ENST00000578121.1_Missense_Mutation_p.G563R	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	558					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G558R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TCAGAAATGTGGACAGAAGAC	0.438																																																	1	Substitution - Missense(1)	kidney(1)											153.0	142.0	146.0					18																	23872291		1954	4144	6098	SO:0001583	missense	6875			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1672G>A	18.37:g.23872291G>A	ENSP00000269142:p.Gly558Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466547	0.43839	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T	0.25749	1.88;1.78	5.03	5.03	0.67393	.	0.516673	0.19495	N	0.112862	T	0.38134	0.1029	L	0.56769	1.78	0.37813	D	0.928129	D;P	0.63880	0.993;0.839	P;P	0.53450	0.726;0.448	T	0.21484	-1.0244	10	0.17369	T	0.5	-3.0586	16.928	0.86182	0.0:0.0:1.0:0.0	.	558;563	Q92750;A4PBF7	TAF4B_HUMAN;.	R	561;558;558	ENSP00000269142:G558R;ENSP00000383314:G558R	ENSP00000269142:G558R	G	+	1	0	TAF4B	22126289	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	4.303000	0.59098	2.313000	0.78055	0.655000	0.94253	GGA		0.438	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3		NM_005640	
TBC1D9B	23061	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	179301968	179301968	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr5:179301968A>T	ENST00000356834.3	-	12	2157	c.2120T>A	c.(2119-2121)cTg>cAg	p.L707Q	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.L707Q	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	707						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.L707Q(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTGGCGTCCAGGACGGCCAG	0.632																																																	2	Substitution - Missense(2)	kidney(2)											63.0	60.0	61.0					5																	179301968		2203	4300	6503	SO:0001583	missense	23061			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2120T>A	5.37:g.179301968A>T	ENSP00000349291:p.Leu707Gln	Somatic		WXS	Illumina HiSeq	Phase_I	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.687951	0.88639	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.52295	0.67;0.67	5.29	5.29	0.74685	Rab-GAP/TBC domain (3);	0.000000	0.64402	D	0.000002	T	0.81470	0.4829	H	0.99026	4.405	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	0.89232	0.3578	10	0.87932	D	0	-15.6926	15.2315	0.73395	1.0:0.0:0.0:0.0	.	707;707;707	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	Q	707	ENSP00000349291:L707Q;ENSP00000347375:L707Q	ENSP00000347375:L707Q	L	-	2	0	TBC1D9B	179234574	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.248000	0.95456	1.999000	0.58509	0.402000	0.26972	CTG		0.632	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3		NM_015043	
TDRD6	221400	broad.mit.edu	37	6	46656688	46656688	+	Nonsense_Mutation	SNP	G	G	T	rs267601052		TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr6:46656688G>T	ENST00000316081.6	+	1	823	c.823G>T	c.(823-825)Gag>Tag	p.E275*	RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Nonsense_Mutation_p.E275*	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	275					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.E275*(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CGTCTCGCAGGAGATCCACCG	0.637																																																	1	Substitution - Nonsense(1)	kidney(1)											31.0	29.0	30.0					6																	46656688		2202	4300	6502	SO:0001587	stop_gained	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.823G>T	6.37:g.46656688G>T	ENSP00000346065:p.Glu275*	Somatic		WXS	Illumina GAIIx	Phase_I	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Nonsense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	37	6.081849	0.97267	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	.	.	.	6.07	6.07	0.98685	.	0.047416	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-6.4796	20.2543	0.98414	0.0:0.0:1.0:0.0	.	.	.	.	X	275	.	ENSP00000346065:E275X	E	+	1	0	TDRD6	46764647	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.897000	0.92532	2.884000	0.98904	0.655000	0.94253	GAG		0.637	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1		XM_166443	
THADA	63892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	43800089	43800089	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr2:43800089C>A	ENST00000405006.4	-	12	2123	c.1772G>T	c.(1771-1773)aGg>aTg	p.R591M	THADA_ENST00000403856.1_Missense_Mutation_p.R591M|THADA_ENST00000402360.2_Missense_Mutation_p.R591M|THADA_ENST00000404790.1_Missense_Mutation_p.R591M|THADA_ENST00000405975.2_Missense_Mutation_p.R591M|THADA_ENST00000330266.7_Missense_Mutation_p.R301M|THADA_ENST00000415080.2_Missense_Mutation_p.R301M	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	591								p.R591M(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAGAGCCCCCCTGCTATTACA	0.443																																																	1	Substitution - Missense(1)	kidney(1)											76.0	75.0	76.0					2																	43800089		1891	4105	5996	SO:0001583	missense	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1772G>T	2.37:g.43800089C>A	ENSP00000385995:p.Arg591Met	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330322	0.81690	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;1.23;1.22;1.2	5.37	4.48	0.54585	Armadillo-type fold (1);	0.050450	0.85682	D	0.000000	T	0.76884	0.4050	M	0.63843	1.955	0.39255	D	0.964105	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.997;0.986;0.997	T	0.80939	-0.1158	10	0.66056	D	0.02	-3.586	16.1401	0.81517	0.0:0.8662:0.1338:0.0	.	591;591;591;301;591	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	M	301;591;591;301;591;591;591;591	ENSP00000331105:R301M;ENSP00000386088:R591M;ENSP00000416048:R301M;ENSP00000385995:R591M;ENSP00000385441:R591M;ENSP00000384266:R591M;ENSP00000385469:R591M	ENSP00000331105:R301M	R	-	2	0	THADA	43653593	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	2.726000	0.47302	1.249000	0.43950	0.591000	0.81541	AGG		0.443	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3		NM_022065	
TIE1	7075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	43773140	43773140	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr1:43773140G>C	ENST00000372476.3	+	6	889	c.810G>C	c.(808-810)gaG>gaC	p.E270D	TIE1_ENST00000538015.1_Missense_Mutation_p.E270D|TIE1_ENST00000441333.2_Missense_Mutation_p.E270D|TIE1_ENST00000433781.2_5'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	270	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E270D(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCTGCCAGGAGCAGTGCCCAG	0.637																																																	1	Substitution - Missense(1)	kidney(1)											39.0	45.0	43.0					1																	43773140		2203	4300	6503	SO:0001583	missense	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.810G>C	1.37:g.43773140G>C	ENSP00000361554:p.Glu270Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394784	0.42512	.	.	ENSG00000066056	ENST00000372476;ENST00000441333;ENST00000538015	T;T;T	0.42900	0.96;1.17;0.96	5.11	-3.31	0.04988	.	0.197287	0.24742	N	0.035972	T	0.36635	0.0974	M	0.79258	2.445	0.80722	D	1	P;P;P;P	0.52316	0.682;0.799;0.952;0.682	B;B;B;B	0.41271	0.079;0.152;0.352;0.079	T	0.38564	-0.9655	10	0.72032	D	0.01	.	7.1205	0.25442	0.4875:0.1137:0.3988:0.0	.	225;270;270;270	B4DTW8;B5A952;B5A950;P35590	.;.;.;TIE1_HUMAN	D	270	ENSP00000361554:E270D;ENSP00000401903:E270D;ENSP00000440063:E270D	ENSP00000361554:E270D	E	+	3	2	TIE1	43545727	1.000000	0.71417	0.972000	0.41901	0.977000	0.68977	0.740000	0.26188	-0.673000	0.05259	-0.494000	0.04653	GAG		0.637	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1		NM_005424	
TM9SF3	56889	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	98312748	98312748	+	Silent	SNP	A	A	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr10:98312748A>T	ENST00000371142.4	-	6	945	c.729T>A	c.(727-729)atT>atA	p.I243I	TM9SF3_ENST00000490192.1_5'Flank	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	243						integral component of membrane (GO:0016021)		p.I243I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TTCTCATTAAAATCATTGAAA	0.299																																																	1	Substitution - coding silent(1)	kidney(1)											105.0	100.0	102.0					10																	98312748		2203	4298	6501	SO:0001819	synonymous_variant	56889			AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.729T>A	10.37:g.98312748A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Silent	SNP	ENST00000371142.4	37	CCDS7450.1																																																																																				0.299	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2		NM_020123	
TMEM184C	55751	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	148545244	148545244	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr4:148545244G>A	ENST00000296582.3	+	3	860	c.286G>A	c.(286-288)Gat>Aat	p.D96N	TMEM184C_ENST00000508208.1_Missense_Mutation_p.D96N	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	96						integral component of membrane (GO:0016021)		p.D96N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TTACAGTTTAGATAGTGTAAG	0.269																																																	1	Substitution - Missense(1)	kidney(1)											98.0	99.0	98.0					4																	148545244		2195	4296	6491	SO:0001583	missense	55751			AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.286G>A	4.37:g.148545244G>A	ENSP00000296582:p.Asp96Asn	Somatic		WXS	Illumina HiSeq	Phase_I	D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	ENST00000296582.3	37	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107091	0.77096	.	.	ENSG00000164168	ENST00000296582;ENST00000508208	T;T	0.41400	1.0;1.0	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.55465	0.1922	L	0.52573	1.65	0.80722	D	1	D	0.67145	0.996	D	0.63113	0.911	T	0.40059	-0.9583	10	0.11182	T	0.66	-33.1617	19.7999	0.96502	0.0:0.0:1.0:0.0	.	96	Q9NVA4	T184C_HUMAN	N	96	ENSP00000296582:D96N;ENSP00000425940:D96N	ENSP00000296582:D96N	D	+	1	0	TMEM184C	148764694	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.537000	0.98070	2.753000	0.94483	0.557000	0.71058	GAT		0.269	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1		NM_018241	
UACA	55075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	70960389	70960389	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr15:70960389T>G	ENST00000322954.6	-	16	2819	c.2634A>C	c.(2632-2634)aaA>aaC	p.K878N	UACA_ENST00000539319.1_Missense_Mutation_p.K769N|UACA_ENST00000560441.1_Missense_Mutation_p.K863N|UACA_ENST00000379983.2_Missense_Mutation_p.K865N	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	878					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.K865N(1)|p.K878N(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTCTGTTAGTTTTGGCTAACG	0.294																																																	2	Substitution - Missense(2)	kidney(2)											63.0	59.0	60.0					15																	70960389		2198	4298	6496	SO:0001583	missense	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2634A>C	15.37:g.70960389T>G	ENSP00000314556:p.Lys878Asn	Somatic		WXS	Illumina HiSeq	Phase_I	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	9.701	1.154468	0.21371	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.78364	-1.17;-1.17;-1.17	5.5	-0.777	0.10981	.	0.000000	0.64402	D	0.000003	D	0.83275	0.5219	M	0.67953	2.075	0.45676	D	0.998593	D;D;D;D	0.76494	0.999;0.998;0.999;0.999	D;D;D;D	0.70487	0.969;0.931;0.931;0.957	T	0.80077	-0.1533	10	0.39692	T	0.17	-30.8342	12.332	0.55046	0.0:0.5019:0.0:0.4981	.	769;878;878;865	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	N	878;865;769	ENSP00000314556:K878N;ENSP00000369319:K865N;ENSP00000438667:K769N	ENSP00000314556:K878N	K	-	3	2	UACA	68747443	0.961000	0.32948	0.317000	0.25265	0.027000	0.11550	0.029000	0.13666	-0.312000	0.08741	-0.250000	0.11733	AAA		0.294	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			
UBE2L3	7332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	21968852	21968852	+	Intron	SNP	C	C	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr22:21968852C>T	ENST00000342192.4	+	3	508				UBE2L3_ENST00000545681.1_Intron|UBE2L3_ENST00000458578.2_Intron	NM_003347.3	NP_003338.1	P68036	UB2L3_HUMAN	ubiquitin-conjugating enzyme E2L 3						cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein K11-linked ubiquitination (GO:0070979)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)|ubiquitin-protein transferase activity (GO:0004842)		UBE2L3/KRAS(2)	large_intestine(4)	4	Colorectal(54;0.105)					ttagaaacttcagcgttccca	0.483																																																	0													283.0	278.0	280.0					22																	21968852		1892	4114	6006	SO:0001627	intron_variant	7332			AJ000519	CCDS13790.1, CCDS58795.1, CCDS58796.1	22q11.2	2007-02-05			ENSG00000185651	ENSG00000185651		"""Ubiquitin-conjugating enzymes E2"""	12488	protein-coding gene	gene with protein product		603721				8672131, 9693040	Standard	NM_001256356		Approved	UBCH7	uc031rxe.1	P68036	OTTHUMG00000150823	ENST00000342192.4:c.310+3520C>T	22.37:g.21968852C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2R4A7|B4DDG1|B4DSZ4|E7EWS7|P51966|P70653|Q9HAV1	RNA	SNP	ENST00000342192.4	37	CCDS13790.1																																																																																				0.483	UBE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320219.1		NM_198157	
UHRF1BP1L	23074	broad.mit.edu	37	12	100496634	100496634	+	Splice_Site	SNP	G	G	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr12:100496634G>C	ENST00000279907.7	-	4	460	c.248C>G	c.(247-249)tCc>tGc	p.S83C	UHRF1BP1L_ENST00000356828.3_Splice_Site_p.S83C	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	83								p.S83C(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTTATCCAGGGACTAATAAAA	0.294																																																	2	Substitution - Missense(2)	kidney(2)											103.0	97.0	99.0					12																	100496634		2203	4300	6503	SO:0001630	splice_region_variant	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.247-1C>G	12.37:g.100496634G>C		Somatic		WXS	Illumina GAIIx	Phase_I	A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918608	0.33908	.	.	ENSG00000111647	ENST00000279907;ENST00000356828	D;D	0.83075	-1.68;-1.68	5.01	4.1	0.47936	.	0.172867	0.52532	D	0.000068	T	0.79149	0.4397	N	0.05351	-0.065	0.52099	D	0.999944	D;B	0.65815	0.995;0.182	P;B	0.58873	0.847;0.102	T	0.79978	-0.1575	10	0.34782	T	0.22	-4.1356	15.2473	0.73513	0.0:0.1414:0.8586:0.0	.	83;83	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	C	83	ENSP00000279907:S83C;ENSP00000349285:S83C	ENSP00000279907:S83C	S	-	2	0	UHRF1BP1L	99020765	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	5.219000	0.65262	1.069000	0.40788	-0.282000	0.10007	TCC		0.294	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1		NM_001006947	Missense_Mutation
UNC45B	146862	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	33501331	33501331	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr17:33501331G>C	ENST00000268876.5	+	14	2004	c.1907G>C	c.(1906-1908)tGc>tCc	p.C636S	UNC45B_ENST00000433649.1_Missense_Mutation_p.C634S|UNC45B_ENST00000591048.1_Missense_Mutation_p.C555S|UNC45B_ENST00000378449.1_Missense_Mutation_p.C555S|UNC45B_ENST00000394570.2_Missense_Mutation_p.C634S	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	636					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.C636S(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GCCCTGGCTTGCATGGTGAAA	0.572																																																	1	Substitution - Missense(1)	kidney(1)											114.0	107.0	109.0					17																	33501331		2203	4300	6503	SO:0001583	missense	146862			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1907G>C	17.37:g.33501331G>C	ENSP00000268876:p.Cys636Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201740	0.38905	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.64260	-0.09;-0.09;-0.09	4.73	4.73	0.59995	Armadillo-like helical (1);Armadillo-type fold (1);	0.107611	0.64402	D	0.000004	T	0.67078	0.2855	L	0.51422	1.61	0.44798	D	0.997807	P;D;P	0.60160	0.531;0.987;0.745	B;P;B	0.56916	0.199;0.809;0.218	T	0.60747	-0.7202	10	0.09084	T	0.74	-16.6289	17.2199	0.86954	0.0:0.0:1.0:0.0	.	555;634;636	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	S	636;636;634;555	ENSP00000268876:C636S;ENSP00000412840:C634S;ENSP00000367710:C555S	ENSP00000268876:C636S	C	+	2	0	UNC45B	30525444	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	4.946000	0.63576	2.606000	0.88127	0.591000	0.81541	TGC		0.572	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2		NM_173167	
SMG1P7	100506060	broad.mit.edu	37	16	70268080	70268081	+	RNA	DNP	TG	TG	CA			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	T|G	T|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr16:70268080_70268081TG>CA	ENST00000459379.1	-	0	0																											GTCTTACTGTTGGCTAAAAGGC	0.376																																																	0																																												0																														Exception_encountered	16.37:g.70268080_70268081delinsCA		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000459379.1	37																																																																																					0.376	snoU13.216-201	NOVEL	basic	snoRNA	snoRNA				
SMG1P7	100506060	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	A	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr16:70268158A>C	ENST00000459379.1	-	0	0																											TTCTTCATTAAAACAGCTACT	0.333																																																	0																																												0																															16.37:g.70268158A>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000459379.1	37																																																																																					0.333	snoU13.216-201	NOVEL	basic	snoRNA	snoRNA				
WASH6P	653440	broad.mit.edu	37	X	155254735	155254735	+	RNA	SNP	C	C	G			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chrX:155254735C>G	ENST00000461007.1	+	0	3651				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.L425V(1)									GATGTCGGATCTCTTCAACAA	0.587																																																	1	Substitution - Missense(1)	kidney(1)																																										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.155254735C>G		Somatic		WXS	Illumina GAIIx	Phase_I	A6NGF1|Q8N305	Missense_Mutation	SNP	ENST00000461007.1	37		.	.	.	.	.	.	.	.	.	.	c	15.33	2.802731	0.50315	.	.	ENSG00000182484	ENST00000359512;ENST00000285718	.	.	.	0.379	0.379	0.16213	.	0.186044	0.48286	D	0.000191	T	0.39200	0.1069	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.29822	-0.9999	6	0.72032	D	0.01	-24.1796	6.473	0.22020	0.0:0.9998:0.0:2.0E-4	.	.	.	.	V	425;394	.	ENSP00000285718:L394V	L	+	1	0	WASH6P	154907929	1.000000	0.71417	0.841000	0.33234	0.284000	0.27059	4.956000	0.63645	0.418000	0.25898	0.171000	0.16805	CTC		0.587	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1		NG_008380	
USP25	29761	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	17197352	17197352	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr21:17197352C>G	ENST00000285679.6	+	12	1645	c.1276C>G	c.(1276-1278)Ctc>Gtc	p.L426V	USP25_ENST00000285681.2_Missense_Mutation_p.L426V|USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.L426V	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	426	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.L426V(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GAAAGATTACCTCACGGTATT	0.313																																																	1	Substitution - Missense(1)	kidney(1)											111.0	109.0	110.0					21																	17197352		2203	4300	6503	SO:0001583	missense	29761			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.1276C>G	21.37:g.17197352C>G	ENSP00000285679:p.Leu426Val	Somatic		WXS	Illumina HiSeq	Phase_I	C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230795	0.58777	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.74421	-0.84;-0.84;-0.84	5.74	4.86	0.63082	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	L	0.61387	1.9	0.58432	D	0.999995	P;P;P	0.42078	0.712;0.712;0.77	B;B;B	0.42692	0.395;0.279;0.187	T	0.70887	-0.4750	10	0.24483	T	0.36	.	14.024	0.64575	0.0:0.9261:0.0:0.0739	.	426;426;426	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	V	426	ENSP00000285681:L426V;ENSP00000285679:L426V;ENSP00000383044:L426V	ENSP00000285679:L426V	L	+	1	0	USP25	16119223	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.455000	0.52993	1.588000	0.49971	0.650000	0.86243	CTC		0.313	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			
VHL	7428	broad.mit.edu;ucsc.edu	37	3	10191470	10191470	+	Splice_Site	SNP	G	G	C	rs5030817		TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr3:10191470G>C	ENST00000256474.2	+	3	1303		c.e3-1		VHL_ENST00000477538.1_Splice_Site|VHL_ENST00000345392.2_Splice_Site	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(23)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGCCCTTCCAGTGTATACTCT	0.493		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	23	Unknown(23)	kidney(21)|soft_tissue(2)	GRCh37	CS071276|CS941547|CS961706	VHL	S	rs5030817						88.0	80.0	83.0					3																	10191470		2203	4300	6503	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.464-1G>C	3.37:g.10191470G>C		Somatic		WXS	Illumina GAIIx	Phase_I	B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862719	0.32884	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2774	0.73753	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VHL	10166470	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	7.062000	0.76706	2.535000	0.85469	0.655000	0.94253	.		0.493	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	Intron
ZGPAT	84619	broad.mit.edu;ucsc.edu	37	20	62366756	62366756	+	Missense_Mutation	SNP	G	G	C	rs17855481		TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr20:62366756G>C	ENST00000328969.5	+	6	1424	c.1297G>C	c.(1297-1299)Ggg>Cgg	p.G433R	ZGPAT_ENST00000355969.6_Missense_Mutation_p.G413R|RP4-583P15.14_ENST00000467211.1_5'Flank|ZGPAT_ENST00000369967.3_Missense_Mutation_p.G413R|ZGPAT_ENST00000448100.2_Missense_Mutation_p.G413R|RP4-583P15.15_ENST00000490623.2_Silent_p.P318P|ZGPAT_ENST00000357119.4_Missense_Mutation_p.G404R|LIME1_ENST00000309546.3_5'Flank	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	433				G -> R (in Ref. 6; AAH19338). {ECO:0000305}.	negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G433R(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCTAGAAGCCGGGGCGGCCCC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											18.0	22.0	20.0					20																	62366756		2188	4291	6479	SO:0001583	missense	84619			AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.1297G>C	20.37:g.62366756G>C	ENSP00000332013:p.Gly433Arg	Somatic		WXS	Illumina GAIIx	Phase_I	E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	ENST00000328969.5	37	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	G	5.700	0.313715	0.10789	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000369967;ENST00000328969	T;T;T;T;T	0.23147	1.93;1.93;1.92;1.93;1.92	5.37	2.22	0.28083	.	0.562537	0.18925	N	0.127368	T	0.16599	0.0399	L	0.38531	1.155	0.26378	N	0.976771	B;B;B	0.27140	0.08;0.169;0.08	B;B;B	0.25291	0.059;0.054;0.059	T	0.22836	-1.0205	10	0.15952	T	0.53	-10.9445	8.2251	0.31564	0.145:0.1291:0.7258:0.0	.	404;433;413	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	R	413;413;404;413;433	ENSP00000391176:G413R;ENSP00000348242:G413R;ENSP00000349634:G404R;ENSP00000358984:G413R;ENSP00000332013:G433R	ENSP00000332013:G433R	G	+	1	0	ZGPAT	61837200	0.667000	0.27484	0.002000	0.10522	0.001000	0.01503	1.293000	0.33353	0.661000	0.30985	-0.986000	0.02555	GGG		0.642	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1		NM_181484	
ZNF438	220929	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	31134379	31134379	+	Silent	SNP	T	T	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr10:31134379T>C	ENST00000361310.3	-	7	2327	c.1998A>G	c.(1996-1998)ttA>ttG	p.L666L	ZNF438_ENST00000375311.1_Silent_p.L230L|ZNF438_ENST00000413025.1_Silent_p.L666L|ZNF438_ENST00000452305.1_Silent_p.L656L|ZNF438_ENST00000331737.6_Silent_p.L656L|ZNF438_ENST00000436087.2_Silent_p.L666L|ZNF438_ENST00000444692.2_Silent_p.L656L|ZNF438_ENST00000442986.1_Silent_p.L666L|ZNF438_ENST00000538351.2_Silent_p.L617L			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	666					negative regulation of transcription, DNA-templated (GO:0045892)|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.L666L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GAACATCAAGTAAATGAAATT	0.458																																																	1	Substitution - coding silent(1)	kidney(1)											96.0	93.0	94.0					10																	31134379		2203	4300	6503	SO:0001819	synonymous_variant	220929			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1998A>G	10.37:g.31134379T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Silent	SNP	ENST00000361310.3	37	CCDS7168.1																																																																																				0.458	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1		NM_182755	
ZNF625	90589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	12256409	12256409	+	Silent	SNP	C	C	T	rs188764180		TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr19:12256409C>T	ENST00000355738.1	-	4	973	c.624G>A	c.(622-624)ccG>ccA	p.P208P	CTC-359D24.3_ENST00000472362.1_RNA|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000542938.1_Silent_p.P208P|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000439556.2_Silent_p.P274P			Q96I27	ZN625_HUMAN	zinc finger protein 625	208					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.P274P(1)|p.P208P(1)		breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TACATTCATACGGCTTCTCCC	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		23031	0.0		0.001	False		,,,				2504	0.0																2	Substitution - coding silent(2)	kidney(2)											142.0	132.0	135.0					19																	12256409		2203	4300	6503	SO:0001819	synonymous_variant	90589			BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.624G>A	19.37:g.12256409C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A4FU45|I3L0E9	Silent	SNP	ENST00000355738.1	37																																																																																					0.428	ZNF625-201	KNOWN	basic	protein_coding	protein_coding			NM_145233	
ZNF530	348327	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	58118103	58118103	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr19:58118103G>C	ENST00000332854.6	+	3	1430	c.1210G>C	c.(1210-1212)Gaa>Caa	p.E404Q	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	404					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.E404Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCACACTGGAGAAAGACCTTA	0.423																																																	1	Substitution - Missense(1)	kidney(1)											98.0	94.0	96.0					19																	58118103		2203	4300	6503	SO:0001583	missense	348327			AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.1210G>C	19.37:g.58118103G>C	ENSP00000332861:p.Glu404Gln	Somatic		WXS	Illumina HiSeq	Phase_I	O43340|Q9P220	Missense_Mutation	SNP	ENST00000332854.6	37	CCDS12955.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303477	0.40795	.	.	ENSG00000183647	ENST00000332854	T	0.25912	1.77	2.39	2.39	0.29439	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37652	0.1011	L	0.37466	1.105	0.22591	N	0.99896	D	0.67145	0.996	D	0.67548	0.952	T	0.13469	-1.0508	9	0.62326	D	0.03	.	11.8426	0.52364	0.0:0.0:1.0:0.0	.	404	Q6P9A1	ZN530_HUMAN	Q	404	ENSP00000332861:E404Q	ENSP00000332861:E404Q	E	+	1	0	ZNF530	62809915	0.266000	0.24112	0.672000	0.29872	0.932000	0.56968	2.414000	0.44627	1.341000	0.45600	0.609000	0.83330	GAA		0.423	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1		NM_020880	
ZRANB1	54764	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	126662867	126662867	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr10:126662867T>A	ENST00000359653.4	+	5	1698	c.1327T>A	c.(1327-1329)Tgc>Agc	p.C443S		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	443	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.C443S(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TGCAGGAGACTGCCTACTTGA	0.468																																																	1	Substitution - Missense(1)	kidney(1)											148.0	137.0	141.0					10																	126662867		2203	4300	6503	SO:0001583	missense	54764			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1327T>A	10.37:g.126662867T>A	ENSP00000352676:p.Cys443Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	ENST00000359653.4	37	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	T	32	5.187074	0.94923	.	.	ENSG00000019995	ENST00000359653	T	0.77358	-1.09	5.74	5.74	0.90152	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	D	0.86826	0.6026	M	0.82323	2.585	0.80722	D	1	D	0.63046	0.992	P	0.57371	0.819	D	0.88585	0.3139	10	0.62326	D	0.03	-26.151	16.0421	0.80691	0.0:0.0:0.0:1.0	.	443	Q9UGI0	ZRAN1_HUMAN	S	443	ENSP00000352676:C443S	ENSP00000352676:C443S	C	+	1	0	ZRANB1	126652857	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.018000	0.88722	2.192000	0.70111	0.533000	0.62120	TGC		0.468	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1		NM_017580	
