#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
ACIN1	22985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23533399	23533399	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr14:23533399G>C	ENST00000262710.1	-	12	3011	c.2684C>G	c.(2683-2685)tCt>tGt	p.S895C	ACIN1_ENST00000338631.6_Missense_Mutation_p.S168C|ACIN1_ENST00000357481.2_Missense_Mutation_p.S137C|ACIN1_ENST00000557515.1_Missense_Mutation_p.S136C|ACIN1_ENST00000397341.3_Missense_Mutation_p.S137C|ACIN1_ENST00000457657.1_Missense_Mutation_p.S855C|ACIN1_ENST00000555053.1_Missense_Mutation_p.S882C|ACIN1_ENST00000605057.1_Missense_Mutation_p.S837C	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	895					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S895C(1)|p.S168C(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AGAGATGCGAGAGTCATCAGC	0.562																																																	2	Substitution - Missense(2)	kidney(2)											112.0	102.0	106.0					14																	23533399		2203	4300	6503	SO:0001583	missense	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2684C>G	14.37:g.23533399G>C	ENSP00000262710:p.Ser895Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660361	0.67586	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053;ENST00000555566	T;T;T;T;T;T;T	0.16196	3.35;3.35;3.35;2.36;2.37;3.35;3.34	5.4	5.4	0.78164	.	0.000000	0.40554	N	0.001066	T	0.33177	0.0854	L	0.36672	1.1	0.39497	D	0.96813	D;D;D;D;D	0.67145	0.996;0.994;0.994;0.993;0.991	D;D;D;P;P	0.69479	0.964;0.922;0.922;0.842;0.793	T	0.02464	-1.1155	10	0.62326	D	0.03	-7.7786	18.1114	0.89537	0.0:0.0:1.0:0.0	.	882;895;855;168;137	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	C	136;168;137;895;855;137;882;125	ENSP00000451138:S136C;ENSP00000345541:S168C;ENSP00000350073:S137C;ENSP00000262710:S895C;ENSP00000405677:S855C;ENSP00000380502:S137C;ENSP00000451328:S882C	ENSP00000262710:S895C	S	-	2	0	ACIN1	22603239	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.048000	0.64238	2.814000	0.96858	0.563000	0.77884	TCT		0.562	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3		NM_014977	
ANKS4B	257629	broad.mit.edu;ucsc.edu	37	16	21261470	21261470	+	Missense_Mutation	SNP	G	G	A	rs373521474		TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr16:21261470G>A	ENST00000311620.5	+	2	656	c.583G>A	c.(583-585)Ggg>Agg	p.G195R		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	195					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)		p.G195R(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TGGCACATTCGGGTCACTATC	0.498																																																	1	Substitution - Missense(1)	kidney(1)						G	ARG/GLY	1,3921		0,1,1960	94.0	96.0	95.0		583	5.8	1.0	16		95	1,8315		0,1,4157	no	missense	ANKS4B	NM_145865.2	125	0,2,6117	AA,AG,GG		0.012,0.0255,0.0163	probably-damaging	195/418	21261470	2,12236	1961	4158	6119	SO:0001583	missense	257629			AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.583G>A	16.37:g.21261470G>A	ENSP00000308772:p.Gly195Arg	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000311620.5	37	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.388081	0.42308	2.55E-4	1.2E-4	ENSG00000175311	ENST00000311620	T	0.44482	0.92	5.77	5.77	0.91146	.	0.054082	0.64402	D	0.000001	T	0.51329	0.1668	M	0.72118	2.19	0.80722	D	1	D	0.69078	0.997	P	0.54460	0.753	T	0.45086	-0.9285	10	0.20519	T	0.43	-24.2696	10.4529	0.44533	0.1485:0.0:0.8515:0.0	.	195	Q8N8V4	ANS4B_HUMAN	R	195	ENSP00000308772:G195R	ENSP00000308772:G195R	G	+	1	0	ANKS4B	21168971	1.000000	0.71417	0.992000	0.48379	0.243000	0.25628	4.037000	0.57311	2.726000	0.93360	0.591000	0.81541	GGG		0.498	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1		NM_145865	
AQP12B	653437	hgsc.bcm.edu	37	2	241621800	241621800	+	Frame_Shift_Del	DEL	C	C	-	rs201917032	byFrequency	TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr2:241621800delC	ENST00000407834.3	-	1	517	c.455delG	c.(454-456)agcfs	p.S153fs		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	141						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.S152fs*24(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CAGGGCCGAGCTGCAGCTCTG	0.697													|||unknown(ALL_OTHER_Ns)	1162	0.232029	0.2602	0.1859	5008	,	,		16428	0.3621		0.1372	False		,,,				2504	0.1902																2	Deletion - Frameshift(2)	ovary(1)|breast(1)								1107,2703		290,527,1088	3.0	5.0	4.0			2.8	1.0	2		5	1068,6184		219,630,2777	no	frameshift	AQP12B	NM_001102467.1		509,1157,3865	A1A1,A1R,RR		14.727,29.0551,19.6619			241621800	2175,8887	1826	3778	5604	SO:0001589	frameshift_variant	653437			BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"""Ion channels / Aquaporins"""	6096	protein-coding gene	gene with protein product			"""insulin synthesis associated 3"""	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.455delG	2.37:g.241621800delC	ENSP00000384894:p.Ser153fs	Somatic		WXS	Illumina HiSeq	Phase_I	A4QPB9	Frame_Shift_Del	DEL	ENST00000407834.3	37	CCDS46560.1																																																																																				0.697	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325625.1			
ATP13A4	84239	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	193188727	193188727	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr3:193188727C>A	ENST00000342695.4	-	9	1186	c.864G>T	c.(862-864)ttG>ttT	p.L288F	ATP13A4_ENST00000392443.3_Missense_Mutation_p.L288F|ATP13A4_ENST00000295548.3_Missense_Mutation_p.L288F	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	288						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.L288F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGTTCCCTGTCAAAATTAATA	0.488																																																	1	Substitution - Missense(1)	kidney(1)											170.0	160.0	164.0					3																	193188727		2203	4300	6503	SO:0001583	missense	84239			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.864G>T	3.37:g.193188727C>A	ENSP00000339182:p.Leu288Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721227	0.68959	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	D;D;D	0.91237	-2.81;-2.81;-2.81	5.44	4.56	0.56223	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.49916	D	0.000138	D	0.94241	0.8151	M	0.78637	2.42	0.40096	D	0.976311	D;D	0.76494	0.999;0.999	D;D	0.80764	0.991;0.994	D	0.94199	0.7448	10	0.62326	D	0.03	-13.1536	9.6873	0.40107	0.0:0.8424:0.0:0.1576	.	288;288	Q4VNC1-2;Q4VNC1	.;AT134_HUMAN	F	288	ENSP00000376238:L288F;ENSP00000339182:L288F;ENSP00000295548:L288F	ENSP00000295548:L288F	L	-	3	2	ATP13A4	194671421	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.452000	0.35156	1.288000	0.44600	0.650000	0.86243	TTG		0.488	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4		NM_032279	
BOD1L1	259282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	13605133	13605133	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr4:13605133C>T	ENST00000040738.5	-	10	3526	c.3391G>A	c.(3391-3393)Gtg>Atg	p.V1131M		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1131						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V1131M(1)									ACTTCAAACACATTTTCAACA	0.388																																																	1	Substitution - Missense(1)	kidney(1)											116.0	124.0	121.0					4																	13605133		2203	4300	6503	SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3391G>A	4.37:g.13605133C>T	ENSP00000040738:p.Val1131Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	8.573	0.880559	0.17467	.	.	ENSG00000038219	ENST00000040738	T	0.09445	2.98	5.35	1.54	0.23209	.	0.707032	0.12241	N	0.486488	T	0.09512	0.0234	L	0.50333	1.59	0.09310	N	0.999999	P	0.44877	0.845	B	0.39840	0.311	T	0.23048	-1.0199	10	0.48119	T	0.1	-0.9646	3.9503	0.09366	0.2927:0.4825:0.0:0.2249	.	1131	Q8NFC6	BOD1L_HUMAN	M	1131	ENSP00000040738:V1131M	ENSP00000040738:V1131M	V	-	1	0	BOD1L	13214231	0.036000	0.19791	0.328000	0.25416	0.575000	0.36095	0.600000	0.24104	0.207000	0.20607	0.655000	0.94253	GTG		0.388	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1		NM_148894	
CNTN6	27255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	1363473	1363473	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr3:1363473A>G	ENST00000446702.2	+	8	1528	c.901A>G	c.(901-903)Aac>Gac	p.N301D	CNTN6_ENST00000539053.1_Missense_Mutation_p.N229D|CNTN6_ENST00000350110.2_Missense_Mutation_p.N301D			Q9UQ52	CNTN6_HUMAN	contactin 6	301	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.N301D(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CATTGCAAGCAACCTTCGAGG	0.388																																																	1	Substitution - Missense(1)	kidney(1)											113.0	118.0	116.0					3																	1363473		2203	4299	6502	SO:0001583	missense	27255			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.901A>G	3.37:g.1363473A>G	ENSP00000407822:p.Asn301Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.840071	0.91117	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	D;D;D	0.84660	-1.88;-1.88;-1.88	5.9	5.9	0.94986	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.64402	D	0.000003	D	0.95503	0.8539	H	0.98276	4.19	0.58432	D	0.999997	D	0.69078	0.997	D	0.79784	0.993	D	0.97152	0.9832	10	0.87932	D	0	.	14.9032	0.70696	1.0:0.0:0.0:0.0	.	301	Q9UQ52	CNTN6_HUMAN	D	301;229;301	ENSP00000407822:N301D;ENSP00000442791:N229D;ENSP00000341882:N301D	ENSP00000341882:N301D	N	+	1	0	CNTN6	1338473	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.487000	0.90454	2.251000	0.74343	0.528000	0.53228	AAC		0.388	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2		NM_014461	
CHRD	8646	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	184102984	184102984	+	Silent	SNP	G	G	T	rs202079204		TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr3:184102984G>T	ENST00000204604.1	+	14	2022	c.1776G>T	c.(1774-1776)acG>acT	p.T592T	CHRD_ENST00000545352.1_Silent_p.T222T|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Silent_p.T592T|CHRD_ENST00000348986.3_Silent_p.T552T	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	592	CHRD 4. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.T592T(1)|p.T305T(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTCCTGGAACGCCAGGGCCTC	0.567																																																	2	Substitution - coding silent(2)	kidney(2)											67.0	71.0	70.0					3																	184102984		2203	4300	6503	SO:0001819	synonymous_variant	8646			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1776G>T	3.37:g.184102984G>T		Somatic		WXS	Illumina HiSeq	Phase_I	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Silent	SNP	ENST00000204604.1	37	CCDS3266.1																																																																																				0.567	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1		NM_003741	
CSNK1G3	1456	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	122911473	122911473	+	Silent	SNP	A	A	G			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr5:122911473A>G	ENST00000361991.2	+	5	519	c.489A>G	c.(487-489)gtA>gtG	p.V163V	CSNK1G3_ENST00000511130.2_Silent_p.V50V|CSNK1G3_ENST00000395411.1_Silent_p.V163V|CSNK1G3_ENST00000345990.4_Silent_p.V163V|CSNK1G3_ENST00000360683.2_Silent_p.V163V|CSNK1G3_ENST00000510842.2_Silent_p.V163V|CSNK1G3_ENST00000521364.1_Silent_p.V163V|CSNK1G3_ENST00000395412.1_Silent_p.V163V|CSNK1G3_ENST00000512718.3_Silent_p.V88V			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	163	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V163V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		ACAGAGATGTAAAACCTGAGA	0.348																																					Pancreas(187;2868 2964 4353 6297)												1	Substitution - coding silent(1)	kidney(1)											66.0	67.0	67.0					5																	122911473		2203	4300	6503	SO:0001819	synonymous_variant	1456			AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.489A>G	5.37:g.122911473A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Silent	SNP	ENST00000361991.2	37	CCDS4135.1																																																																																				0.348	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1		NM_004384	
CTDP1	9150	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	77477938	77477938	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr18:77477938A>T	ENST00000299543.7	+	10	2486	c.2339A>T	c.(2338-2340)aAg>aTg	p.K780M	CTDP1_ENST00000075430.7_Missense_Mutation_p.K780M	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	780					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)	p.K780M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		AACACGGGGAAGCTCATCAGG	0.697																																																	1	Substitution - Missense(1)	kidney(1)											38.0	45.0	43.0					18																	77477938		2203	4298	6501	SO:0001583	missense	9150			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2339A>T	18.37:g.77477938A>T	ENSP00000299543:p.Lys780Met	Somatic		WXS	Illumina HiSeq	Phase_I	A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	A	15.86	2.958663	0.53400	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.59224	0.28;0.28	5.07	5.07	0.68467	FCP1-like phosphatase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.78375	-0.2228	10	0.87932	D	0	-54.9563	14.831	0.70149	1.0:0.0:0.0:0.0	.	661;780;780	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	M	780	ENSP00000299543:K780M;ENSP00000075430:K780M	ENSP00000075430:K780M	K	+	2	0	CTDP1	75578926	1.000000	0.71417	0.998000	0.56505	0.015000	0.08874	4.425000	0.59875	1.886000	0.54624	0.460000	0.39030	AAG		0.697	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1		NM_004715	
CYP4X1	260293	broad.mit.edu;ucsc.edu	37	1	47498916	47498916	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr1:47498916A>C	ENST00000371901.3	+	4	618	c.368A>C	c.(367-369)aAa>aCa	p.K123T	CYP4X1_ENST00000538609.1_Missense_Mutation_p.K122T	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	123						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.K123T(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TCTCAAGGAAAAGGACTAGCG	0.448																																																	1	Substitution - Missense(1)	kidney(1)											75.0	69.0	71.0					1																	47498916		2203	4300	6503	SO:0001583	missense	260293			AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.368A>C	1.37:g.47498916A>C	ENSP00000360968:p.Lys123Thr	Somatic		WXS	Illumina GAIIx	Phase_I	G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	ENST00000371901.3	37	CCDS544.1	.	.	.	.	.	.	.	.	.	.	A	4.733	0.136362	0.09032	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.70164	-0.46;-0.35	5.91	3.56	0.40772	.	0.874252	0.10466	N	0.671402	T	0.47210	0.1433	N	0.11560	0.145	0.20563	N	0.999889	B;B	0.17038	0.009;0.02	B;B	0.20577	0.029;0.03	T	0.33624	-0.9861	10	0.27785	T	0.31	.	9.6907	0.40127	0.8551:0.0:0.1449:0.0	.	123;122	Q8N118;G3V1U1	CP4X1_HUMAN;.	T	122;123	ENSP00000445965:K122T;ENSP00000360968:K123T	ENSP00000360968:K123T	K	+	2	0	CYP4X1	47271503	0.934000	0.31675	0.599000	0.28851	0.048000	0.14542	4.317000	0.59184	0.479000	0.27511	0.482000	0.46254	AAA		0.448	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1		NM_178033	
DCAF4L2	138009	broad.mit.edu;ucsc.edu	37	8	88885732	88885732	+	Silent	SNP	G	G	A			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr8:88885732G>A	ENST00000319675.3	-	1	564	c.468C>T	c.(466-468)gcC>gcT	p.A156A		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	156								p.A156A(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGAGCAGCACGGCACAGCTTG	0.552																																																	1	Substitution - coding silent(1)	kidney(1)											97.0	90.0	93.0					8																	88885732		2203	4300	6503	SO:0001819	synonymous_variant	138009			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.468C>T	8.37:g.88885732G>A		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000319675.3	37	CCDS6245.1																																																																																				0.552	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1		NM_152418	
DNAJC11	55735	broad.mit.edu;ucsc.edu	37	1	6741001	6741001	+	Nonsense_Mutation	SNP	G	G	A	rs201724546		TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr1:6741001G>A	ENST00000377577.5	-	2	292	c.169C>T	c.(169-171)Cga>Tga	p.R57*	DNAJC11_ENST00000377573.5_De_novo_Start_OutOfFrame|DNAJC11_ENST00000294401.7_Nonsense_Mutation_p.R57*|DNAJC11_ENST00000349363.6_Nonsense_Mutation_p.R19*|DNAJC11_ENST00000542246.1_Nonsense_Mutation_p.R19*	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	57	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)		p.R57*(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TTAAACAGTCGTTCCGCCTGT	0.498																																																	2	Substitution - Nonsense(2)	kidney(2)											178.0	163.0	168.0					1																	6741001		2203	4300	6503	SO:0001587	stop_gained	55735			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.169C>T	1.37:g.6741001G>A	ENSP00000366800:p.Arg57*	Somatic		WXS	Illumina GAIIx	Phase_I	Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Nonsense_Mutation	SNP	ENST00000377577.5	37	CCDS87.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110672	0.94292	.	.	ENSG00000007923	ENST00000377577;ENST00000451196;ENST00000349363;ENST00000294401;ENST00000542246;ENST00000426784	.	.	.	5.48	4.56	0.56223	.	0.167013	0.52532	D	0.000063	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-0.7373	14.8445	0.70251	0.0:0.0:0.8556:0.1444	.	.	.	.	X	57;33;19;57;19;57	.	ENSP00000294401:R57X	R	-	1	2	DNAJC11	6663588	1.000000	0.71417	0.020000	0.16555	0.196000	0.23810	7.517000	0.81783	1.296000	0.44742	0.655000	0.94253	CGA		0.498	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3		NM_018198	
SPATA31D1	389763	broad.mit.edu;hgsc.bcm.edu	37	9	84607804	84607804	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr9:84607804A>T	ENST00000344803.2	+	4	2466	c.2419A>T	c.(2419-2421)Act>Tct	p.T807S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	807					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.T807S(2)									AGACCTAGAAACTCATATGAT	0.468																																																	2	Substitution - Missense(2)	kidney(2)											74.0	72.0	73.0					9																	84607804		1872	4091	5963	SO:0001583	missense	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2419A>T	9.37:g.84607804A>T	ENSP00000341988:p.Thr807Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.192413	0.00302	.	.	ENSG00000214929	ENST00000344803	T	0.05786	3.39	2.74	-5.48	0.02592	.	17.996800	0.00166	N	0.000000	T	0.01320	0.0043	N	0.00275	-1.725	0.09310	N	1	B	0.16802	0.019	B	0.18561	0.022	T	0.33979	-0.9847	10	0.02654	T	1	1.7005	5.0752	0.14628	0.183:0.0:0.4146:0.4024	.	807	Q6ZQQ2	F75D1_HUMAN	S	807	ENSP00000341988:T807S	ENSP00000341988:T807S	T	+	1	0	FAM75D1	83797624	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.806000	0.04525	-2.695000	0.00402	-0.400000	0.06385	ACT		0.468	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1		NM_001001670	
GABRB1	2560	broad.mit.edu;ucsc.edu	37	4	47033947	47033947	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr4:47033947A>C	ENST00000295454.3	+	2	389	c.97A>C	c.(97-99)Aac>Cac	p.N33H	GABRB1_ENST00000509366.1_3'UTR|GABRB1_ENST00000538619.1_5'UTR	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	33					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)	p.N33H(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGAACCCAGCAACATGTCATA	0.458																																																	1	Substitution - Missense(1)	kidney(1)											226.0	221.0	223.0					4																	47033947		2203	4300	6503	SO:0001583	missense	2560				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.97A>C	4.37:g.47033947A>C	ENSP00000295454:p.Asn33His	Somatic		WXS	Illumina GAIIx	Phase_I	B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.561555	0.45590	.	.	ENSG00000163288	ENST00000295454	D	0.81821	-1.54	4.42	3.24	0.37175	.	0.000000	0.64402	D	0.000014	T	0.80491	0.4633	L	0.27053	0.805	0.80722	D	1	D;P	0.89917	1.0;0.7	D;B	0.87578	0.998;0.383	T	0.77112	-0.2708	10	0.39692	T	0.17	-17.8862	8.0813	0.30746	0.9029:0.0:0.0971:0.0	.	33;33	B4DJD0;P18505	.;GBRB1_HUMAN	H	33	ENSP00000295454:N33H	ENSP00000295454:N33H	N	+	1	0	GABRB1	46728704	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	8.744000	0.91596	0.750000	0.32877	-0.266000	0.10368	AAC		0.458	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			
GCN1L1	10985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	120586152	120586152	+	Splice_Site	SNP	T	T	C			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr12:120586152T>C	ENST00000300648.6	-	37	4559		c.e37-2			NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)						regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.?(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCACTGACCCTGTGGATAGCA	0.562																																																	1	Unknown(1)	kidney(1)											55.0	60.0	58.0					12																	120586152		2134	4234	6368	SO:0001630	splice_region_variant	10985			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4547-2A>G	12.37:g.120586152T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Splice_Site	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	T	12.27	1.886759	0.33348	.	.	ENSG00000089154	ENST00000300648	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0421	0.71799	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GCN1L1	119070535	1.000000	0.71417	0.996000	0.52242	0.022000	0.10575	7.777000	0.85628	1.971000	0.57363	0.260000	0.18958	.		0.562	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			Intron
ITGB4	3691	broad.mit.edu;hgsc.bcm.edu	37	17	73729634	73729634	+	Silent	SNP	G	G	A			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr17:73729634G>A	ENST00000200181.3	+	13	1705	c.1518G>A	c.(1516-1518)gaG>gaA	p.E506E	ITGB4_ENST00000449880.2_Silent_p.E506E|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Silent_p.E506E|ITGB4_ENST00000339591.3_Silent_p.E506E|ITGB4_ENST00000579662.1_Silent_p.E506E	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	506	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)	p.E506E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCTGCGGGAGGGCGAGGACA	0.637																																																	1	Substitution - coding silent(1)	kidney(1)											51.0	44.0	46.0					17																	73729634		2203	4300	6503	SO:0001819	synonymous_variant	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1518G>A	17.37:g.73729634G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	CCDS11727.1																																																																																				0.637	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			
SPIDR	23514	broad.mit.edu;ucsc.edu	37	8	48309113	48309113	+	Silent	SNP	T	T	C			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr8:48309113T>C	ENST00000297423.4	+	6	1087	c.703T>C	c.(703-705)Ttg>Ctg	p.L235L	SPIDR_ENST00000518074.1_Silent_p.L175L|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Silent_p.L165L	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	235	Necessary for interaction with RAD51.				cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)		p.L235L(1)									AGAGACCATTTTGCATACACC	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											155.0	152.0	153.0					8																	48309113		1863	4112	5975	SO:0001819	synonymous_variant	23514			AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.703T>C	8.37:g.48309113T>C		Somatic		WXS	Illumina GAIIx	Phase_I	B4DFV2|B4E0Y6|Q96BI5	Silent	SNP	ENST00000297423.4	37	CCDS43737.1																																																																																				0.398	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1		NM_001080394	
KIAA2013	90231	hgsc.bcm.edu	37	1	11985493	11985494	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr1:11985493_11985494delTC	ENST00000376572.3	-	1	986_987	c.801_802delGA	c.(799-804)aagaagfs	p.KK267fs	KIAA2013_ENST00000376576.3_Frame_Shift_Del_p.KK267fs	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	267						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCACCAGCTTCTTGGCGGCCA	0.634																																																	0																																										SO:0001589	frameshift_variant	90231			AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.801_802delGA	1.37:g.11985493_11985494delTC	ENSP00000365756:p.Lys267fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Frame_Shift_Del	DEL	ENST00000376572.3	37	CCDS141.1																																																																																				0.634	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1		NM_138346	
LCT	3938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	136566891	136566891	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr2:136566891G>T	ENST00000264162.2	-	8	3036	c.3026C>A	c.(3025-3027)gCa>gAa	p.A1009E	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1009	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.A1009E(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GATGTTGCTTGCCACCAAGCC	0.493																																																	1	Substitution - Missense(1)	kidney(1)											62.0	65.0	64.0					2																	136566891		2203	4300	6503	SO:0001583	missense	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3026C>A	2.37:g.136566891G>T	ENSP00000264162:p.Ala1009Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	5.877	0.346011	0.11126	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.49720	0.77	5.78	2.89	0.33648	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.280226	0.45361	N	0.000373	T	0.32346	0.0826	N	0.25647	0.755	0.38209	D	0.94042	B	0.15141	0.012	B	0.26969	0.075	T	0.21999	-1.0229	10	0.02654	T	1	-3.2144	14.4858	0.67616	0.0:0.0:0.4743:0.5257	.	1009	P09848	LPH_HUMAN	E	1009;441	ENSP00000264162:A1009E	ENSP00000264162:A1009E	A	-	2	0	LCT	136283361	0.939000	0.31865	0.893000	0.35052	0.721000	0.41392	2.114000	0.41911	0.300000	0.22699	0.563000	0.77884	GCA		0.493	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1		NM_002299	
LETM1	3954	hgsc.bcm.edu	37	4	1823987	1823988	+	Frame_Shift_Ins	INS	-	-	C	rs143969650		TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr4:1823987_1823988insC	ENST00000302787.2	-	10	1824_1825	c.1528_1529insG	c.(1528-1530)gagfs	p.E510fs		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	510					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TGGCTGTGGCTCGGTCCCCGGC	0.604																																																	0										5,4261		0,5,2128						2.4	0.1			60	17,8235		0,17,4109	no	frameshift	LETM1	NM_012318.2		0,22,6237	A1A1,A1R,RR		0.206,0.1172,0.1757				22,12496				SO:0001589	frameshift_variant	3954			AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1529dupG	4.37:g.1823988_1823988dupC	ENSP00000305653:p.Glu510fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DED2|Q9UF65	Frame_Shift_Ins	INS	ENST00000302787.2	37	CCDS3355.1																																																																																				0.604	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			
LRP2	4036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	170060531	170060531	+	Nonsense_Mutation	SNP	C	C	A	rs201403741		TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr2:170060531C>A	ENST00000263816.3	-	42	8251	c.7966G>T	c.(7966-7968)Gaa>Taa	p.E2656*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2656	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.E2656*(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTAAACTGTTCACAAGGATTG	0.443																																																	1	Substitution - Nonsense(1)	kidney(1)											128.0	128.0	128.0					2																	170060531		2203	4300	6503	SO:0001587	stop_gained	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7966G>T	2.37:g.170060531C>A	ENSP00000263816:p.Glu2656*	Somatic		WXS	Illumina HiSeq	Phase_I	O00711|Q16215	Nonsense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	50	16.852907	0.99873	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.58	1.3	0.21679	.	0.635407	0.17209	N	0.182812	.	.	.	.	.	.	0.35175	D	0.771902	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	8.3968	0.32561	0.0:0.3407:0.0:0.6593	.	.	.	.	X	2656	.	ENSP00000263816:E2656X	E	-	1	0	LRP2	169768777	0.714000	0.27936	0.095000	0.20976	0.931000	0.56810	0.886000	0.28241	-0.003000	0.14444	0.655000	0.94253	GAA		0.443	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		NM_004525	
NSD1	64324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176637818	176637818	+	Silent	SNP	A	A	C			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr5:176637818A>C	ENST00000439151.2	+	5	2463	c.2418A>C	c.(2416-2418)atA>atC	p.I806I	NSD1_ENST00000361032.4_Silent_p.I703I|NSD1_ENST00000347982.4_Silent_p.I537I|NSD1_ENST00000354179.4_Silent_p.I537I	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	806					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.I806I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCCCAGTTATAAATGAGGAGT	0.408			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	2	Substitution - coding silent(2)	kidney(2)											52.0	52.0	52.0					5																	176637818		2203	4300	6503	SO:0001819	synonymous_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2418A>C	5.37:g.176637818A>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	CCDS4412.1																																																																																				0.408	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2		NM_172349	
NUP214	8021	broad.mit.edu;hgsc.bcm.edu	37	9	134077067	134077067	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr9:134077067G>C	ENST00000359428.5	+	30	5699	c.5555G>C	c.(5554-5556)gGt>gCt	p.G1852A	NUP214_ENST00000483497.2_Missense_Mutation_p.G678A|NUP214_ENST00000411637.2_Missense_Mutation_p.G1842A|NUP214_ENST00000451030.1_Missense_Mutation_p.G1853A			P35658	NU214_HUMAN	nucleoporin 214kDa	1852	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)	p.G1852A(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TCTGTGTTTGGTCAAGCAGCC	0.353			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)			Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	1	Substitution - Missense(1)	kidney(1)											196.0	172.0	180.0					9																	134077067		2203	4300	6503	SO:0001583	missense	8021			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.5555G>C	9.37:g.134077067G>C	ENSP00000352400:p.Gly1852Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.649994	0.87958	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497	T;T;T;T	0.67171	0.31;0.33;0.31;-0.25	5.81	5.81	0.92471	.	0.000000	0.43260	D	0.000581	T	0.68229	0.2978	N	0.08118	0	0.53005	D	0.999969	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.87578	0.998;0.998;0.979;0.979	T	0.71758	-0.4496	10	0.38643	T	0.18	-20.7052	19.0807	0.93180	0.0:0.0:1.0:0.0	.	678;1446;1842;1852	B7ZAV2;Q5JUP9;P35658-4;P35658	.;.;.;NU214_HUMAN	A	1852;1842;1853;1831;1446;1281;678	ENSP00000352400:G1852A;ENSP00000396576:G1842A;ENSP00000405014:G1853A;ENSP00000436793:G678A	ENSP00000352400:G1852A	G	+	2	0	NUP214	133066888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.714000	0.74692	2.756000	0.94617	0.557000	0.71058	GGT		0.353	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2		NM_005085	
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52643348	52643348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr3:52643348G>A	ENST00000296302.7	-	16	2549	c.2548C>T	c.(2548-2550)Cga>Tga	p.R850*	PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R818*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R865*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R865*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R850*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R850*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R850*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R850*			Q86U86	PB1_HUMAN	polybromo 1	850	Bromo 6. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R850*(4)|p.R818*(2)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTTCTTGCTCGTTCCAATACT	0.333			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	6	Substitution - Nonsense(6)	kidney(6)											65.0	65.0	65.0					3																	52643348		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2548C>T	3.37:g.52643348G>A	ENSP00000296302:p.Arg850*	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	39	7.754433	0.98471	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	6.08	3.64	0.41730	.	0.042238	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.3202	14.3827	0.66921	0.0:0.0:0.495:0.5049	.	.	.	.	X	818;850;850;850;850;850;865;865;850;809	.	ENSP00000296302:R850X	R	-	1	2	PBRM1	52618388	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.755000	0.47540	0.509000	0.28195	-0.266000	0.10368	CGA		0.333	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PCDH10	57575	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	134071487	134071487	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr4:134071487A>C	ENST00000264360.5	+	1	1018	c.192A>C	c.(190-192)ttA>ttC	p.L64F	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	64	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L64F(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCCCTTACTTAGACCTCAACC	0.532																																																	1	Substitution - Missense(1)	kidney(1)											90.0	94.0	93.0					4																	134071487		2203	4300	6503	SO:0001583	missense	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.192A>C	4.37:g.134071487A>C	ENSP00000264360:p.Leu64Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.320365	0.41096	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.31510	1.49	4.77	3.87	0.44632	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.36703	N	0.002446	T	0.31358	0.0794	N	0.05608	-0.01	0.58432	D	0.999999	D;B	0.89917	1.0;0.287	D;B	0.87578	0.998;0.311	T	0.11591	-1.0581	10	0.31617	T	0.26	.	10.7305	0.46093	0.1:0.0:0.9:0.0	.	64;64	Q9P2E7;Q96SF0	PCD10_HUMAN;.	F	64	ENSP00000264360:L64F	ENSP00000264360:L64F	L	+	3	2	PCDH10	134290937	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.439000	0.59968	1.107000	0.41642	0.454000	0.30748	TTA		0.532	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2		NM_032961	
RNF219	79596	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	79212988	79212988	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr13:79212988T>G	ENST00000282003.6	-	4	577	c.519A>C	c.(517-519)aaA>aaC	p.K173N		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	173							zinc ion binding (GO:0008270)	p.K173N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		CATCTTTCACTTTTTCATAGA	0.313																																																	1	Substitution - Missense(1)	kidney(1)											151.0	145.0	147.0					13																	79212988		2202	4299	6501	SO:0001583	missense	79596			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.519A>C	13.37:g.79212988T>G	ENSP00000282003:p.Lys173Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	ENST00000282003.6	37	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	T	18.07	3.542474	0.65198	.	.	ENSG00000152193	ENST00000282003	.	.	.	5.71	2.02	0.26589	.	0.047601	0.85682	D	0.000000	T	0.38665	0.1049	L	0.34521	1.04	0.46927	D	0.999255	P	0.47191	0.891	B	0.40375	0.327	T	0.18304	-1.0341	9	0.72032	D	0.01	-1.617	9.1821	0.37148	0.0:0.2035:0.0:0.7965	.	173	Q5W0B1	RN219_HUMAN	N	173	.	ENSP00000282003:K173N	K	-	3	2	RNF219	78110989	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.237000	0.51344	0.127000	0.18452	-0.899000	0.02877	AAA		0.313	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1		NM_024546	
RYR1	6261	hgsc.bcm.edu	37	19	38990455	38990455	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr19:38990455G>A	ENST00000359596.3	+	44	7208	c.7208G>A	c.(7207-7209)cGc>cAc	p.R2403H	RYR1_ENST00000355481.4_Missense_Mutation_p.R2403H|RYR1_ENST00000360985.3_Missense_Mutation_p.R2403H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2403	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GACCGGCGGCGCGAGCAGTGA	0.701																																																	0													16.0	19.0	18.0					19																	38990455		2197	4296	6493	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7208G>A	19.37:g.38990455G>A	ENSP00000352608:p.Arg2403His	Somatic		WXS	Illumina HiSeq	Phase_I	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193677	0.38707	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97772	-4.53;-4.53;-4.53	3.74	3.74	0.42951	.	0.224065	0.27415	U	0.019480	D	0.97977	0.9334	M	0.66939	2.045	0.32531	N	0.534891	D;D	0.67145	0.986;0.996	P;P	0.62740	0.578;0.906	D	0.98897	1.0775	10	0.45353	T	0.12	.	14.5272	0.67897	0.0:0.0:1.0:0.0	.	2403;2403	P21817-2;P21817	.;RYR1_HUMAN	H	2403	ENSP00000352608:R2403H;ENSP00000347667:R2403H;ENSP00000354254:R2403H	ENSP00000347667:R2403H	R	+	2	0	RYR1	43682295	1.000000	0.71417	0.952000	0.39060	0.613000	0.37349	6.731000	0.74785	1.927000	0.55829	0.289000	0.19496	CGC		0.701	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			
SCCPDH	51097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	246923346	246923346	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr1:246923346A>T	ENST00000366510.3	+	8	1277	c.901A>T	c.(901-903)Agg>Tgg	p.R301W		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	301						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.R301W(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		GTTCTTTGTGAGGTTTGGAAT	0.323																																																	1	Substitution - Missense(1)	kidney(1)											255.0	232.0	240.0					1																	246923346		2203	4300	6503	SO:0001583	missense	51097				CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.901A>T	1.37:g.246923346A>T	ENSP00000355467:p.Arg301Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TAR0|Q9Y363	Missense_Mutation	SNP	ENST00000366510.3	37	CCDS31084.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.492797	0.84962	.	.	ENSG00000143653	ENST00000366510;ENST00000366509	T	0.44881	0.91	5.43	5.43	0.79202	.	0.444509	0.28730	N	0.014339	T	0.56949	0.2020	L	0.51914	1.62	0.37490	D	0.916363	D	0.56035	0.974	P	0.61940	0.896	T	0.64210	-0.6461	10	0.72032	D	0.01	.	15.4512	0.75274	1.0:0.0:0.0:0.0	.	301	Q8NBX0	SCPDL_HUMAN	W	301;132	ENSP00000355467:R301W	ENSP00000355466:R132W	R	+	1	2	SCCPDH	244989969	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	5.330000	0.65899	2.179000	0.69175	0.533000	0.62120	AGG		0.323	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096902.2		NM_016002	
ST8SIA4	7903	hgsc.bcm.edu;ucsc.edu	37	5	100147701	100147701	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr5:100147701delT	ENST00000231461.5	-	5	1240	c.930delA	c.(928-930)aaafs	p.K310fs		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	310					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		ATTTGACCGCTTTTCCATTTA	0.378																																																	0													82.0	76.0	78.0					5																	100147701		2203	4300	6503	SO:0001589	frameshift_variant	7903			L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.930delA	5.37:g.100147701delT	ENSP00000231461:p.Lys310fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8KA07|G3V104|Q8N1F4|Q92693	Frame_Shift_Del	DEL	ENST00000231461.5	37	CCDS4091.1																																																																																				0.378	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3		NM_005668	
THSD4	79875	broad.mit.edu;ucsc.edu	37	15	72039333	72039333	+	Silent	SNP	C	C	T			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr15:72039333C>T	ENST00000355327.3	+	13	2327	c.2193C>T	c.(2191-2193)tgC>tgT	p.C731C	THSD4_ENST00000357769.4_Silent_p.C371C|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Silent_p.C731C			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	731	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)	p.C731C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCAGCACCTGCCAACTCAAGA	0.657																																																	1	Substitution - coding silent(1)	kidney(1)											26.0	33.0	31.0					15																	72039333		2135	4236	6371	SO:0001819	synonymous_variant	79875			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2193C>T	15.37:g.72039333C>T		Somatic		WXS	Illumina GAIIx	Phase_I	B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Silent	SNP	ENST00000355327.3	37	CCDS10238.2																																																																																				0.657	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2		NM_024817	
TRAPPC9	83696	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	141415691	141415691	+	Silent	SNP	A	A	G			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr8:141415691A>G	ENST00000438773.2	-	6	1126	c.993T>C	c.(991-993)atT>atC	p.I331I	TRAPPC9_ENST00000389328.4_Silent_p.I429I|TRAPPC9_ENST00000389327.3_Silent_p.I322I	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	331					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.I429I(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TGTAATAGGAAATCGCCTCTT	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											146.0	126.0	133.0					8																	141415691		2203	4300	6503	SO:0001819	synonymous_variant	83696			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.993T>C	8.37:g.141415691A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.344219	0.24339	.	.	ENSG00000167632	ENST00000520857	.	.	.	5.7	-6.36	0.01969	.	.	.	.	.	T	0.53834	0.1821	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57476	-0.7805	4	.	.	.	.	12.0366	0.53429	0.3019:0.1139:0.5842:0.0	.	.	.	.	L	175	.	.	F	-	1	0	TRAPPC9	141484873	1.000000	0.71417	0.633000	0.29310	0.956000	0.61745	0.966000	0.29331	-1.594000	0.01615	0.533000	0.62120	TTC		0.398	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1		NM_031466	
TRIM6	117854	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5624933	5624933	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr11:5624933T>G	ENST00000278302.5	+	2	531	c.391T>G	c.(391-393)Ttc>Gtc	p.F131V	TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.F159V|TRIM6_ENST00000380097.3_Missense_Mutation_p.F159V|TRIM6_ENST00000380107.1_Missense_Mutation_p.F105V|TRIM6_ENST00000506134.1_Intron|TRIM6_ENST00000515022.1_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000445329.1_5'UTR|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000507320.1_5'UTR	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	131					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.F159V(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCACCACACGTTCCTCGTGGA	0.532																																																	2	Substitution - Missense(2)	kidney(2)											97.0	91.0	93.0					11																	5624933		2201	4297	6498	SO:0001583	missense	117854			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.391T>G	11.37:g.5624933T>G	ENSP00000278302:p.Phe131Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.566753	0.45694	.	.	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000380107;ENST00000380097;ENST00000396867;ENST00000337072;ENST00000354852	T;T;T;T	0.53857	0.6;0.6;0.6;1.62	4.09	2.93	0.34026	Zinc finger, B-box (2);	.	.	.	.	T	0.20618	0.0496	N	0.01242	-0.935	0.09310	N	1	B;B;B;B	0.33379	0.0;0.41;0.021;0.008	B;B;B;B	0.37091	0.001;0.241;0.009;0.015	T	0.22730	-1.0208	9	0.10636	T	0.68	.	4.2431	0.10658	0.0:0.1047:0.2088:0.6865	.	105;159;159;131	E9PFM0;B2RNG4;Q9C030-2;Q9C030	.;.;.;TRIM6_HUMAN	V	131;105;159;38;159;159	ENSP00000278302:F131V;ENSP00000369450:F105V;ENSP00000369440:F159V;ENSP00000346916:F159V	ENSP00000278302:F131V	F	+	1	0	TRIM34;TRIM6;TRIM6-TRIM34	5581509	0.000000	0.05858	0.973000	0.42090	0.990000	0.78478	-0.640000	0.05440	0.869000	0.35703	0.533000	0.62120	TTC		0.532	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2		NM_001003818	
USP34	9736	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	61571006	61571006	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr2:61571006T>C	ENST00000398571.2	-	16	2520	c.2444A>G	c.(2443-2445)cAc>cGc	p.H815R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	815					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.H815R(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTGTTGGAGGTGAGATGTCAG	0.363																																																	1	Substitution - Missense(1)	kidney(1)											153.0	144.0	147.0					2																	61571006		1928	4134	6062	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2444A>G	2.37:g.61571006T>C	ENSP00000381577:p.His815Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.892678	0.91889	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03553	3.89	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.03477	0.0100	N	0.22421	0.69	0.58432	D	0.999997	P	0.37466	0.596	B	0.32211	0.142	T	0.58086	-0.7698	10	0.39692	T	0.17	.	15.9112	0.79475	0.0:0.0:0.0:1.0	.	815	Q70CQ2	UBP34_HUMAN	R	663;663;815	ENSP00000381577:H815R	ENSP00000263989:H663R	H	-	2	0	USP34	61424510	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.026000	0.88783	2.161000	0.67846	0.491000	0.48974	CAC		0.363	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191480	10191481	+	Missense_Mutation	DNP	TG	TG	CC	rs121913346		TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	T|G	T|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr3:10191480_10191481TG>CC	ENST00000256474.2	+	3	1313_1314	c.473_474TG>CC	c.(472-474)cTG>cCC	p.L158P	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Missense_Mutation_p.L117P	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	158	Interaction with Elongin BC complex.		L -> P (in VHLD; type I-II; abolishes release from chaperonin complex and the interaction with Elongin BC complex). {ECO:0000269|PubMed:10635329, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|L -> V (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		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.L158Q(6)|p.L158P(5)|p.V155fs*15(2)|p.L158R(1)|p.L158_K159del(1)|p.T157fs*14(1)|p.K159fs*10(1)|p.L158fs*16(1)|p.V155_K159delVYTLK(1)|p.T157_K159del(1)|p.Y156*(1)|p.T157_K159>I(1)|p.L158fs*6(1)|p.L158>?(1)|p.L158fs*15(1)|p.L158L(1)		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)		GTGTATACTCTGAAAGAGCGAT	0.505		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"""	26	Substitution - Missense(12)|Deletion - Frameshift(7)|Deletion - In frame(3)|Insertion - Frameshift(1)|Complex - deletion inframe(1)|Complex(1)|Substitution - coding silent(1)	kidney(26)	GRCh37	CI024083|CI962364|CM941379|CX071477	VHL	I|M|X	rs121913346																																			SO:0001583	missense	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	Exception_encountered	3.37:g.10191480_10191481delinsCC	ENSP00000256474:p.Leu158Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation|Silent	SNP	ENST00000256474.2	37	CCDS2597.1																																																																																				0.505	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
XYLT2	64132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48433278	48433278	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr17:48433278G>A	ENST00000017003.2	+	6	1274	c.1225G>A	c.(1225-1227)Gtg>Atg	p.V409M	XYLT2_ENST00000507602.1_Missense_Mutation_p.V409M	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	409					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.V409M(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ACGCAGCTTTGTGGAGTATGT	0.602																																																	1	Substitution - Missense(1)	kidney(1)											91.0	82.0	85.0					17																	48433278		2203	4300	6503	SO:0001583	missense	64132			AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1225G>A	17.37:g.48433278G>A	ENSP00000017003:p.Val409Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836723	0.71373	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.15487	2.42;2.42	4.39	4.39	0.52855	.	0.066012	0.64402	D	0.000013	T	0.38772	0.1053	M	0.70595	2.14	0.80722	D	1	P	0.46064	0.872	P	0.58077	0.832	T	0.29549	-1.0008	10	0.66056	D	0.02	-20.0872	17.2236	0.86963	0.0:0.0:1.0:0.0	.	409	Q9H1B5	XYLT2_HUMAN	M	409	ENSP00000017003:V409M;ENSP00000426501:V409M	ENSP00000017003:V409M	V	+	1	0	XYLT2	45788277	1.000000	0.71417	0.988000	0.46212	0.749000	0.42624	9.636000	0.98440	2.293000	0.77203	0.508000	0.49915	GTG		0.602	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1		NM_022167	
ZNF44	51710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	12383395	12383395	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr19:12383395G>A	ENST00000356109.5	-	5	1937	c.1819C>T	c.(1819-1821)Ccc>Tcc	p.P607S	ZNF44_ENST00000355684.5_Missense_Mutation_p.P559S	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	607					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.P559S(1)		ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CATTCATAGGGTCTTTCTCCA	0.438																																																	1	Substitution - Missense(1)	kidney(1)											57.0	61.0	60.0					19																	12383395		2202	4300	6502	SO:0001583	missense	51710			X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.1819C>T	19.37:g.12383395G>A	ENSP00000348419:p.Pro607Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535174	0.45176	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.28454	1.61;1.61;1.61	1.1	-0.0889	0.13671	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26304	0.0642	L	0.58510	1.815	.	.	.	B;B	0.29481	0.245;0.082	B;B	0.24269	0.052;0.016	T	0.24154	-1.0168	8	0.54805	T	0.06	.	8.1025	0.30865	0.0:0.255:0.745:0.0	.	607;559	P15621;F8W7T7	ZNF44_HUMAN;.	S	607;607;559;559	ENSP00000377008:P607S;ENSP00000348419:P607S;ENSP00000347910:P559S	ENSP00000347910:P559S	P	-	1	0	ZNF44	12244395	0.039000	0.19947	0.003000	0.11579	0.957000	0.61999	0.774000	0.26675	0.034000	0.15491	0.305000	0.20034	CCC		0.438	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1		NM_016264	
CBR1	873	broad.mit.edu	37	21	37444758	37444758	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr21:37444758G>A	ENST00000290349.6	+	3	587	c.412G>A	c.(412-414)Gta>Ata	p.V138I	CBR1_ENST00000399191.3_3'UTR|SETD4_ENST00000399201.1_Intron|AP000688.14_ENST00000535199.1_RNA|CBR1_ENST00000530908.1_3'UTR	NM_001757.2	NP_001748.1	P16152	CBR1_HUMAN	carbonyl reductase 1	138					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|drug metabolic process (GO:0017144)|epithelial cell differentiation (GO:0030855)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin K metabolic process (GO:0042373)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	15-hydroxyprostaglandin dehydrogenase (NADP+) activity (GO:0047021)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|prostaglandin-E2 9-reductase activity (GO:0050221)	p.V138I(1)		endometrium(2)|kidney(3)	5					Doxorubicin(DB00997)|Haloperidol(DB00502)|Lubiprostone(DB01046)|Tetrabenazine(DB04844)	AGTGGTGAACGTATCTAGCAT	0.507																																																	1	Substitution - Missense(1)	kidney(1)											78.0	75.0	76.0					21																	37444758		2203	4300	6503	SO:0001583	missense	873				CCDS13641.1, CCDS68202.1	21q22.1	2011-09-14			ENSG00000159228	ENSG00000159228	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1548	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 1"""	114830		CBR		8432528, 19027726	Standard	NM_001757		Approved	SDR21C1	uc002yvb.1	P16152	OTTHUMG00000086618	ENST00000290349.6:c.412G>A	21.37:g.37444758G>A	ENSP00000290349:p.Val138Ile	Somatic		WXS	Illumina GAIIx	Phase_I	B2RBZ7|B4DFK7|Q3LHW8	Missense_Mutation	SNP	ENST00000290349.6	37	CCDS13641.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455410	0.26161	.	.	ENSG00000159228	ENST00000290349	D	0.87571	-2.27	5.45	4.56	0.56223	NAD(P)-binding domain (1);	0.053970	0.64402	N	0.000001	T	0.80401	0.4616	N	0.17872	0.535	0.80722	D	1	B	0.24258	0.1	B	0.24701	0.055	T	0.71820	-0.4477	10	0.35671	T	0.21	-20.2404	17.3494	0.87318	0.0667:0.0:0.9333:0.0	.	138	P16152	CBR1_HUMAN	I	138	ENSP00000290349:V138I	ENSP00000290349:V138I	V	+	1	0	CBR1	36366628	1.000000	0.71417	0.934000	0.37439	0.174000	0.22865	5.719000	0.68462	0.681000	0.31386	-1.134000	0.01955	GTA		0.507	CBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194633.2			
CTDP1	9150	broad.mit.edu	37	18	77477956	77477956	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr18:77477956C>T	ENST00000299543.7	+	10	2504	c.2357C>T	c.(2356-2358)gCc>gTc	p.A786V	CTDP1_ENST00000075430.7_Missense_Mutation_p.A786V	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	786					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)	p.A786V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		AGGACGGGCGCCCGGGGGCCC	0.677																																																	1	Substitution - Missense(1)	kidney(1)											33.0	41.0	38.0					18																	77477956		2203	4299	6502	SO:0001583	missense	9150			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2357C>T	18.37:g.77477956C>T	ENSP00000299543:p.Ala786Val	Somatic		WXS	Illumina GAIIx	Phase_I	A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373923	0.24857	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.47869	0.83;0.83	5.07	4.2	0.49525	FCP1-like phosphatase, C-terminal (1);	0.545064	0.21754	N	0.069630	T	0.36496	0.0969	L	0.29908	0.895	0.09310	N	1	B;B;B	0.17852	0.003;0.024;0.007	B;B;B	0.14023	0.004;0.01;0.01	T	0.24048	-1.0171	10	0.41790	T	0.15	-0.4073	13.0924	0.59172	0.0:0.9223:0.0:0.0777	.	667;786;786	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	V	786	ENSP00000299543:A786V;ENSP00000075430:A786V	ENSP00000075430:A786V	A	+	2	0	CTDP1	75578944	0.028000	0.19301	0.001000	0.08648	0.049000	0.14656	3.170000	0.50816	1.109000	0.41680	0.563000	0.77884	GCC		0.677	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1		NM_004715	
GLS2	27165	broad.mit.edu	37	12	56865561	56865561	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr12:56865561C>A	ENST00000311966.4	-	17	1926	c.1648G>T	c.(1648-1650)Gac>Tac	p.D550Y	GLS2_ENST00000476991.1_5'Flank|MIP_ENST00000555551.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	550					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)	p.D550Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	CCTCACCTGTCCTTGGCAAAA	0.493																																																	1	Substitution - Missense(1)	kidney(1)											163.0	157.0	159.0					12																	56865561		2203	4300	6503	SO:0001583	missense	27165				CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.1648G>T	12.37:g.56865561C>A	ENSP00000310447:p.Asp550Tyr	Somatic		WXS	Illumina GAIIx	Phase_I	B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Missense_Mutation	SNP	ENST00000311966.4	37	CCDS8921.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483289	0.84854	.	.	ENSG00000135423	ENST00000311966	T	0.45668	0.89	4.81	4.81	0.61882	Ankyrin repeat-containing domain (4);	0.049158	0.85682	D	0.000000	T	0.72938	0.3523	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80759	-0.1239	10	0.87932	D	0	.	15.6448	0.77039	0.0:1.0:0.0:0.0	.	550	Q9UI32	GLSL_HUMAN	Y	550	ENSP00000310447:D550Y	ENSP00000310447:D550Y	D	-	1	0	GLS2	55151828	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.288000	0.78691	2.597000	0.87782	0.563000	0.77884	GAC		0.493	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1		NM_013267	
LOC728989	728989	broad.mit.edu	37	1	146493351	146493351	+	IGR	SNP	A	A	G	rs372773070		TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr1:146493351A>G								RP4-704D21.2 (18174 upstream) : RNVU1-8 (57943 downstream)																							TGAAGGAGCCACTCCTGTTTG	0.488																																																	0																																										SO:0001628	intergenic_variant	728989																															1.37:g.146493351A>G		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.488									
Unknown	0	broad.mit.edu	37	11	5988973	5988973	+	IGR	SNP	A	A	G			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr11:5988973A>G								OR56A3 (19382 upstream) : OR52L1 (18148 downstream)																							GAAGAAGAGGATGAGGATGAA	0.483																																																	0													163.0	158.0	160.0					11																	5988973		692	1591	2283	SO:0001628	intergenic_variant	390084																															11.37:g.5988973A>G		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.483									
RALGPS2	55103	broad.mit.edu	37	1	178753614	178753614	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr1:178753614C>A	ENST00000367635.3	+	3	457	c.119C>A	c.(118-120)gCt>gAt	p.A40D	RALGPS2_ENST00000367634.2_Missense_Mutation_p.A40D	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	40					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.A40D(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGCTTTGATGCTGTGGTATTC	0.388																																																	1	Substitution - Missense(1)	kidney(1)											135.0	126.0	129.0					1																	178753614		2203	4300	6503	SO:0001583	missense	55103			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.119C>A	1.37:g.178753614C>A	ENSP00000356607:p.Ala40Asp	Somatic		WXS	Illumina GAIIx	Phase_I	B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	CCDS1325.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667479	0.88348	.	.	ENSG00000116191	ENST00000367635;ENST00000367634	T;T	0.30182	1.54;1.54	5.32	4.39	0.52855	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.48295	0.1492	L	0.59436	1.845	0.80722	D	1	D;D	0.67145	0.984;0.996	P;D	0.65233	0.808;0.933	T	0.39396	-0.9616	10	0.31617	T	0.26	.	14.9151	0.70789	0.0:0.8556:0.1444:0.0	.	40;40	B7Z7B1;Q86X27	.;RGPS2_HUMAN	D	40	ENSP00000356607:A40D;ENSP00000356606:A40D	ENSP00000356606:A40D	A	+	2	0	RALGPS2	177020237	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.049000	0.76613	1.218000	0.43458	0.467000	0.42956	GCT		0.388	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2		NM_152663	
SDHAP3	728609	broad.mit.edu	37	5	1574406	1574406	+	IGR	SNP	T	T	C	rs367669441		TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr5:1574406T>C								CTD-2245E15.3 (22581 upstream) : SDHAP3 (14736 downstream)																							CTCATCAATCTGCACCTGAGG	0.478																																																	0																																										SO:0001628	intergenic_variant	728609																															5.37:g.1574406T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.478									
SEC14L1	6397	broad.mit.edu	37	17	75209464	75209464	+	Silent	SNP	C	C	T			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr17:75209464C>T	ENST00000413679.2	+	16	2235	c.1932C>T	c.(1930-1932)tgC>tgT	p.C644C	SEC14L1_ENST00000431431.2_Silent_p.C610C|SEC14L1_ENST00000443798.4_Silent_p.C644C|SEC14L1_ENST00000436233.4_Silent_p.C644C|SEC14L1_ENST00000591437.1_Silent_p.C610C|SEC14L1_ENST00000392476.2_Silent_p.C644C|SEC14L1_ENST00000430767.4_Silent_p.C644C|SEC14L1_ENST00000585618.1_Silent_p.C644C	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	644	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.C644C(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGCCTGCGTGCGCCGCCAGCA	0.607																																																	1	Substitution - coding silent(1)	kidney(1)											56.0	44.0	48.0					17																	75209464		2203	4300	6503	SO:0001819	synonymous_variant	6397			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1932C>T	17.37:g.75209464C>T		Somatic		WXS	Illumina GAIIx	Phase_I	A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	ENST00000413679.2	37	CCDS11752.1																																																																																				0.607	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1		NM_003003	
UGT2A1	10941	broad.mit.edu	37	4	70455274	70455274	+	Missense_Mutation	SNP	C	C	T	rs150861593	byFrequency	TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr4:70455274C>T	ENST00000503640.1	-	6	1455	c.1400G>A	c.(1399-1401)cGc>cAc	p.R467H	UGT2A1_ENST00000502343.1_5'Flank|UGT2A2_ENST00000457664.2_Missense_Mutation_p.R476H|UGT2A1_ENST00000512704.1_Missense_Mutation_p.R423H|UGT2A1_ENST00000514019.1_Missense_Mutation_p.R633H|UGT2A1_ENST00000286604.4_Missense_Mutation_p.R467H	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	467					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.R476H(1)|p.R467H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCCTTTGTGGCGCATGACAAA	0.478													C|||	2	0.000399361	0.0	0.0	5008	,	,		15047	0.0		0.002	False		,,,				2504	0.0																2	Substitution - Missense(2)	kidney(2)						C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	135.0	132.0	133.0		1427,1400	3.8	1.0	4	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	UGT2A1,UGT2A2	NM_001105677.2,NM_006798.2	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	476/537,467/528	70455274	2,13004	2203	4300	6503	SO:0001583	missense	10941			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1400G>A	4.37:g.70455274C>T	ENSP00000424478:p.Arg467His	Somatic		WXS	Illumina GAIIx	Phase_I	B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	CCDS3529.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	17.60	3.430418	0.62844	2.27E-4	1.16E-4	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	4.65	3.81	0.43845	.	0.000000	0.85682	D	0.000000	D	0.83440	0.5255	M	0.84082	2.675	.	.	.	D;P;D;D;D	0.89917	1.0;0.854;1.0;0.999;1.0	D;B;D;P;D	0.87578	0.998;0.33;0.98;0.897;0.963	D	0.88284	0.2938	9	0.66056	D	0.02	.	11.5837	0.50906	0.0:0.9092:0.0:0.0908	.	633;633;423;476;467	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	H	476;467;423;633;467	ENSP00000387888:R476H;ENSP00000424478:R467H;ENSP00000421432:R423H;ENSP00000425497:R633H;ENSP00000286604:R467H	ENSP00000286604:R467H	R	-	2	0	UGT2A1	70489863	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.704000	0.61831	1.277000	0.44412	0.579000	0.79373	CGC		0.478	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3		NM_006798	
ZMYM3	9203	broad.mit.edu	37	X	70472956	70472956	+	Silent	SNP	A	A	G			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chrX:70472956A>G	ENST00000353904.2	-	2	337	c.150T>C	c.(148-150)ccT>ccC	p.P50P	ZMYM3_ENST00000373988.1_Silent_p.P50P|ZMYM3_ENST00000373978.1_Silent_p.P50P|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Silent_p.P50P|ZMYM3_ENST00000314425.5_Silent_p.P50P|ZMYM3_ENST00000373984.3_Silent_p.P50P|ZMYM3_ENST00000373982.1_Silent_p.P50P|ZMYM3_ENST00000373981.1_Silent_p.P50P	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	50					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P50P(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGGATGGAGAAGGGCCAGGGG	0.612											OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	kidney(1)											12.0	13.0	13.0					X																	70472956		2178	4247	6425	SO:0001819	synonymous_variant	9203			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.150T>C	X.37:g.70472956A>G		Somatic	1122	WXS	Illumina GAIIx	Phase_I	D3DVV3|O15089|Q96E26	Silent	SNP	ENST00000353904.2	37	CCDS14409.1																																																																																				0.612	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1		NM_201599	
ZNF136	7695	broad.mit.edu	37	19	12298092	12298092	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr19:12298092G>A	ENST00000343979.4	+	4	1039	c.899G>A	c.(898-900)aGa>aAa	p.R300K	ZNF136_ENST00000398616.2_Missense_Mutation_p.R234K	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	300					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.R300K(1)		NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						ATACATGAAAGAACCCATACT	0.423																																																	1	Substitution - Missense(1)	kidney(1)											69.0	68.0	69.0					19																	12298092		2203	4300	6503	SO:0001583	missense	7695			U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.899G>A	19.37:g.12298092G>A	ENSP00000344162:p.Arg300Lys	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000343979.4	37	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528057	0.64860	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	T;T	0.18338	2.22;2.22	1.37	-1.08	0.09936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	N	0.20483	0.58	0.25408	N	0.988385	B	0.24043	0.096	B	0.23419	0.046	T	0.39542	-0.9609	8	.	.	.	.	4.3957	0.11362	0.1474:0.0:0.634:0.2186	.	300	P52737	ZN136_HUMAN	K	300;234	ENSP00000344162:R300K;ENSP00000381617:R234K	.	R	+	2	0	ZNF136	12159092	0.000000	0.05858	0.001000	0.08648	0.961000	0.63080	-0.941000	0.03925	-0.246000	0.09611	0.650000	0.86243	AGA		0.423	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2		NM_003437	
BAI3	577	broad.mit.edu	37	6	69349081	69349081	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr6:69349081T>C	ENST00000370598.1	+	3	1335	c.514T>C	c.(514-516)Tgt>Cgt	p.C172R		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	172					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C172R(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCATGTATTATGTACTTGGTT	0.413																																						.											1	Substitution - Missense(1)	kidney(1)											77.0	78.0	78.0					6																	69349081		2203	4300	6503	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.514T>C	6.37:g.69349081T>C	ENSP00000359630:p.Cys172Arg	Somatic		WXS	Illumina GAIIx	Phase_I	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.233008	0.58777	.	.	ENSG00000135298	ENST00000370598	T	0.47177	0.85	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.57286	0.2043	L	0.57536	1.79	0.80722	D	1	D	0.57571	0.98	D	0.71656	0.974	T	0.62831	-0.6771	10	0.87932	D	0	.	15.4128	0.74941	0.0:0.0:0.0:1.0	.	172	O60242	BAI3_HUMAN	R	172	ENSP00000359630:C172R	ENSP00000359630:C172R	C	+	1	0	BAI3	69405802	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.655000	0.83696	2.109000	0.64355	0.533000	0.62120	TGT		0.413	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			
