#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
ABCB6	10058	broad.mit.edu;ucsc.edu	37	2	220075789	220075789	+	Silent	SNP	G	G	C			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr2:220075789G>C	ENST00000265316.3	-	15	2326	c.2010C>G	c.(2008-2010)ccC>ccG	p.P670P	ABCB6_ENST00000439002.2_Silent_p.P624P	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	670	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)	p.P670P(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGTGTCTTGGGGCACAACTC	0.572																																																	1	Substitution - coding silent(1)	kidney(1)											120.0	113.0	115.0					2																	220075789		2203	4300	6503	SO:0001819	synonymous_variant	10058			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.2010C>G	2.37:g.220075789G>C		Somatic		WXS	Illumina GAIIx	Phase_I	O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Silent	SNP	ENST00000265316.3	37	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	G	5.085	0.201414	0.09652	.	.	ENSG00000115657	ENST00000295750	D	0.94138	-3.36	4.7	2.84	0.33178	.	0.000000	0.85682	D	0.000000	D	0.93465	0.7915	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.91618	0.5308	7	0.87932	D	0	-20.9253	5.8773	0.18836	0.1604:0.0:0.6848:0.1548	.	.	.	.	R	518	ENSP00000295750:P518R	ENSP00000295750:P518R	P	-	2	0	ABCB6	219784033	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	0.865000	0.27940	0.649000	0.30751	-0.143000	0.13931	CCC		0.572	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2		NM_005689	
ACSM3	6296	hgsc.bcm.edu;ucsc.edu	37	16	20803368	20803369	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr16:20803368_20803369insAA	ENST00000289416.5	+	11	1846_1847	c.1371_1372insAA	c.(1372-1374)atcfs	p.I458fs	ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Frame_Shift_Ins_p.I450fs|ERI2_ENST00000300005.3_Intron	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	458					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						GCAATTTCTATATCACTGGGGA	0.371																																																	0																																										SO:0001589	frameshift_variant	6296			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	Exception_encountered	16.37:g.20803368_20803369insAA	ENSP00000289416:p.Ile458fs	Somatic		WXS	Illumina HiSeq	Phase_I	O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Frame_Shift_Ins	INS	ENST00000289416.5	37	CCDS10589.1																																																																																				0.371	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2		NM_005622	
AGAP7P	653268	broad.mit.edu;hgsc.bcm.edu	37	10	51464817	51464817	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr10:51464817T>A	ENST00000374095.5	-	7	1764	c.1639A>T	c.(1639-1641)Aaa>Taa	p.K547*		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		547	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.K547*(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TCCTCATATTTGGAACGGATC	0.592																																																	1	Substitution - Nonsense(1)	kidney(1)											55.0	71.0	66.0					10																	51464817		2197	4293	6490	SO:0001587	stop_gained	653268																														ENST00000374095.5:c.1639A>T	10.37:g.51464817T>A	ENSP00000363208:p.Lys547*	Somatic		WXS	Illumina HiSeq	Phase_I	A6NGH4	Nonsense_Mutation	SNP	ENST00000374095.5	37	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	20.1	3.935843	0.73442	.	.	ENSG00000204169	ENST00000374095	.	.	.	.	.	.	.	0.101382	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6093	0.12395	0.0:5.0E-4:0.0:0.9995	.	.	.	.	X	547	.	ENSP00000363208:K547X	K	-	1	0	AGAP7	51134823	0.999000	0.42202	0.036000	0.18154	0.036000	0.12997	3.762000	0.55250	0.149000	0.19098	0.147000	0.16070	AAA		0.592	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			
BFSP2	8419	broad.mit.edu	37	3	133119014	133119014	+	Silent	SNP	G	G	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr3:133119014G>A	ENST00000302334.2	+	1	176	c.87G>A	c.(85-87)ggG>ggA	p.G29G		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	29	Head.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.G29G(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CCTTCAGGGGGCCACGGTCAT	0.642																																																	1	Substitution - coding silent(1)	kidney(1)											61.0	71.0	67.0					3																	133119014		2203	4300	6503	SO:0001819	synonymous_variant	8419			U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.87G>A	3.37:g.133119014G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q14D32|Q9HBW5	Silent	SNP	ENST00000302334.2	37	CCDS33859.1																																																																																				0.642	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			
BZW2	28969	broad.mit.edu;ucsc.edu	37	7	16720980	16720980	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr7:16720980G>A	ENST00000433922.2	+	4	468	c.290G>A	c.(289-291)tGt>tAt	p.C97Y	BZW2_ENST00000432311.1_3'UTR|BZW2_ENST00000258761.3_Missense_Mutation_p.C97Y|BZW2_ENST00000452975.2_Missense_Mutation_p.C97Y|BZW2_ENST00000405202.1_Missense_Mutation_p.C21Y	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	97					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)		p.C97Y(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		ACCAACCACTGTGTGTTTTCA	0.418																																																	1	Substitution - Missense(1)	kidney(1)											153.0	134.0	141.0					7																	16720980		2203	4300	6503	SO:0001583	missense	28969			AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.290G>A	7.37:g.16720980G>A	ENSP00000397249:p.Cys97Tyr	Somatic		WXS	Illumina GAIIx	Phase_I	A4D123|Q3B779|Q96JW5|Q9H3F7	Missense_Mutation	SNP	ENST00000433922.2	37	CCDS5362.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030745	0.93575	.	.	ENSG00000136261	ENST00000415365;ENST00000258761;ENST00000433922;ENST00000452975;ENST00000405202;ENST00000446596;ENST00000438834;ENST00000430000	T;T;T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.82291	0.5005	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.995	D;D;D	0.87578	0.979;0.998;0.979	D	0.83619	0.0138	10	0.87932	D	0	-16.0122	20.2527	0.98410	0.0:0.0:1.0:0.0	.	97;97;97	E7ETZ4;Q96JW5;Q9Y6E2	.;.;BZW2_HUMAN	Y	97;97;97;97;21;97;97;97	ENSP00000403481:C97Y;ENSP00000258761:C97Y;ENSP00000397249:C97Y;ENSP00000411715:C97Y;ENSP00000385577:C21Y;ENSP00000412750:C97Y;ENSP00000415924:C97Y;ENSP00000416531:C97Y	ENSP00000258761:C97Y	C	+	2	0	BZW2	16687505	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.810000	0.99221	2.788000	0.95919	0.557000	0.71058	TGT		0.418	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253256.2		NM_014038	
CCDC186	55088	hgsc.bcm.edu;ucsc.edu	37	10	115894782	115894782	+	Silent	SNP	T	T	A	rs112902585	byFrequency	TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr10:115894782T>A	ENST00000369287.3	-	10	1811	c.1545A>T	c.(1543-1545)acA>acT	p.T515T	C10orf118_ENST00000543782.1_Silent_p.T113T	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		515										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		ATTCATCTTCTGTTCTTAATC	0.313																																																	0													93.0	92.0	93.0					10																	115894782		2203	4298	6501	SO:0001819	synonymous_variant	55088																														ENST00000369287.3:c.1545A>T	10.37:g.115894782T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Silent	SNP	ENST00000369287.3	37	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.355239	0.24512	.	.	ENSG00000165813	ENST00000428953	.	.	.	6.14	2.53	0.30540	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6824	0.17784	0.0:0.1979:0.1319:0.6703	.	.	.	.	X	144	.	.	R	-	1	2	C10orf118	115884772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.373000	0.34272	0.196000	0.20367	0.529000	0.55759	AGA		0.313	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			
KIAA0226L	80183	broad.mit.edu;ucsc.edu	37	13	46919715	46919715	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr13:46919715T>C	ENST00000429979.1	-	13	2256	c.1652A>G	c.(1651-1653)cAg>cGg	p.Q551R	KIAA0226L_ENST00000534925.1_Missense_Mutation_p.Q416R|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.Q551R|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.Q394R|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.Q394R|KIAA0226L_ENST00000378787.3_Intron|KIAA0226L_ENST00000378797.2_Intron|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.Q484R	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	551								p.Q551R(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TCCCGGCACCTGCTCGAACTC	0.522																																																	1	Substitution - Missense(1)	kidney(1)											45.0	44.0	45.0					13																	46919715		1944	4139	6083	SO:0001583	missense	0			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1652A>G	13.37:g.46919715T>C	ENSP00000396935:p.Gln551Arg	Somatic		WXS	Illumina GAIIx	Phase_I	A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	T	16.06	3.014893	0.54468	.	.	ENSG00000102445	ENST00000429979;ENST00000378784;ENST00000389908;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T	0.46819	0.86;0.86;0.86;0.88	5.35	5.35	0.76521	.	.	.	.	.	T	0.38348	0.1037	L	0.45422	1.42	0.80722	D	1	B;B;B;B;B	0.24963	0.013;0.013;0.115;0.055;0.087	B;B;B;B;B	0.30401	0.036;0.036;0.115;0.06;0.064	T	0.16188	-1.0411	9	0.10377	T	0.69	-12.1972	10.6057	0.45392	0.0:0.0779:0.0:0.9221	.	394;394;551;416;484	B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3	.;.;K226L_HUMAN;.;.	R	551;484;551;394;394;416	ENSP00000396935:Q551R;ENSP00000368061:Q484R;ENSP00000374558:Q551R;ENSP00000437501:Q416R	ENSP00000315633:Q394R	Q	-	2	0	KIAA0226L	45817716	0.993000	0.37304	1.000000	0.80357	0.950000	0.60333	1.497000	0.35649	2.016000	0.59253	0.533000	0.62120	CAG		0.522	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2		NM_025113	
SYNE4	163183	broad.mit.edu;ucsc.edu	37	19	36494533	36494533	+	Missense_Mutation	SNP	C	C	G	rs565733225		TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr19:36494533C>G	ENST00000324444.3	-	7	1124	c.1013G>C	c.(1012-1014)aGg>aCg	p.R338T	SYNE4_ENST00000340477.5_Missense_Mutation_p.R225T	NM_001039876.1	NP_001034965.1	Q8N205	SYNE4_HUMAN	spectrin repeat containing, nuclear envelope family member 4	338					establishment of epithelial cell apical/basal polarity (GO:0045198)	integral component of nuclear outer membrane (GO:0031309)		p.R338T(1)									CCCCTCCAGCCTCACATCCTG	0.507																																																	1	Substitution - Missense(1)	kidney(1)											61.0	66.0	64.0					19																	36494533		1986	4161	6147	SO:0001583	missense	0			BC038360	CCDS42553.1	19q13.12	2014-01-28	2012-05-31	2012-05-31	ENSG00000181392	ENSG00000181392			26703	protein-coding gene	gene with protein product		615535	"""chromosome 19 open reading frame 46"", ""deafness, autosomal recessive 76"""	C19orf46, DFNB76		23348741	Standard	XM_005258597		Approved	FLJ36445, Nesprin-4, Nesp4	uc002ocq.1	Q8N205	OTTHUMG00000048135	ENST00000324444.3:c.1013G>C	19.37:g.36494533C>G	ENSP00000316130:p.Arg338Thr	Somatic		WXS	Illumina GAIIx	Phase_I	A8MRS0|A8MYE3|Q7Z7L3	Missense_Mutation	SNP	ENST00000324444.3	37	CCDS42553.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.74|10.74	1.436681|1.436681	0.25900|0.25900	.|.	.|.	ENSG00000181392|ENSG00000181392	ENST00000490730|ENST00000340477;ENST00000324444	T|T;T	0.56611|0.30182	0.45|1.54;1.54	4.67|4.67	-0.563|-0.563	0.11778|0.11778	.|.	.|125.427000	.|0.00166	.|N	.|0.000000	T|T	0.18759|0.18759	0.0450|0.0450	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|B;B	0.02656|0.06786	0.0|0.001;0.0	B|B;B	0.01281|0.04013	0.0|0.001;0.001	T|T	0.22695|0.22695	-1.0209|-1.0209	9|10	0.37606|0.59425	T|D	0.19|0.04	-1.7271|-1.7271	0.2286|0.2286	0.00177|0.00177	0.3546:0.1958:0.241:0.2087|0.3546:0.1958:0.241:0.2087	.|.	278|225;338	D6RAE3|Q8N205-2;Q8N205	.|.;SYNE4_HUMAN	D|T	278|225;338	ENSP00000422716:E278D|ENSP00000343152:R225T;ENSP00000316130:R338T	ENSP00000422716:E278D|ENSP00000316130:R338T	E|R	-|-	3|2	2|0	C19orf46|C19orf46	41186373|41186373	0.026000|0.026000	0.19158|0.19158	0.004000|0.004000	0.12327|0.12327	0.000000|0.000000	0.00434|0.00434	-0.020000|-0.020000	0.12525|0.12525	-0.163000|-0.163000	0.10946|0.10946	-0.211000|-0.211000	0.12701|0.12701	GAG|AGG		0.507	SYNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109525.3		NM_001039876	
NPR3	4883	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	32789575	32789575	+	3'UTR	SNP	G	G	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr5:32789575G>T	ENST00000265074.8	+	0	5093				AC026703.1_ENST00000326958.1_Missense_Mutation_p.R23M	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)	p.R23M(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTGAACCACAGGAATGGTTCT	0.418																																																	1	Substitution - Missense(1)	kidney(1)											88.0	90.0	89.0					5																	32789575		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3124G>T	5.37:g.32789575G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	7.238	0.600631	0.13939	.	.	ENSG00000181495	ENST00000326958	.	.	.	4.58	0.759	0.18438	.	.	.	.	.	T	0.35711	0.0941	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36890	-0.9729	5	0.87932	D	0	.	3.1388	0.06448	0.2998:0.0:0.5105:0.1897	.	.	.	.	M	23	.	ENSP00000318340:R23M	R	+	2	0	AC026703.1	32825332	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	-0.187000	0.09656	0.261000	0.21753	0.591000	0.81541	AGG		0.418	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3		NM_000908	
CCDC170	80129	hgsc.bcm.edu	37	6	151936781	151936781	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr6:151936781A>C	ENST00000239374.7	+	10	2013	c.1914A>C	c.(1912-1914)aaA>aaC	p.K638N	RNU6-813P_ENST00000384691.1_RNA|CCDC170_ENST00000367290.5_Missense_Mutation_p.K645N	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	638																	CACTAAAAAAATCTCTGGAAG	0.388																																																	0													131.0	128.0	129.0					6																	151936781		1823	4076	5899	SO:0001583	missense	0			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1914A>C	6.37:g.151936781A>C	ENSP00000239374:p.Lys638Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	A	16.98	3.270679	0.59540	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.09163	3.01;3.01	5.95	-8.3	0.01005	.	0.390641	0.28853	N	0.013923	T	0.03390	0.0098	M	0.72118	2.19	0.09310	N	0.999997	P	0.47762	0.9	B	0.42386	0.386	T	0.12941	-1.0528	10	0.28530	T	0.3	-8.5428	7.3777	0.26837	0.3705:0.0876:0.4624:0.0795	.	638	Q8IYT3	CF097_HUMAN	N	638;645	ENSP00000239374:K638N;ENSP00000356259:K645N	ENSP00000239374:K638N	K	+	3	2	C6orf97	151978474	0.051000	0.20477	0.039000	0.18376	0.967000	0.64934	-0.357000	0.07651	-1.145000	0.02858	0.533000	0.62120	AAA		0.388	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2		NM_025059	
C9orf64	84267	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	86571091	86571091	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr9:86571091C>G	ENST00000376344.3	-	1	541	c.325G>C	c.(325-327)Gcc>Ccc	p.A109P	C9orf64_ENST00000314700.1_5'UTR|C9orf64_ENST00000376340.2_5'UTR	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	109								p.A109P(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TCGTCGAGGGCTCTGTTGACG	0.557																																																	1	Substitution - Missense(1)	kidney(1)											127.0	124.0	125.0					9																	86571091		2064	4193	6257	SO:0001583	missense	84267			AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.325G>C	9.37:g.86571091C>G	ENSP00000365522:p.Ala109Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B2RPI6|Q8N2B1|Q9BT18	Missense_Mutation	SNP	ENST00000376344.3	37	CCDS6666.2	.	.	.	.	.	.	.	.	.	.	C	34	5.304995	0.95601	.	.	ENSG00000165118	ENST00000376344	.	.	.	5.3	4.38	0.52667	.	0.056913	0.64402	D	0.000001	D	0.85444	0.5698	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.88845	0.3315	9	0.72032	D	0.01	-18.0841	14.8353	0.70177	0.0:0.927:0.0:0.073	.	109	Q5T6V5	CI064_HUMAN	P	109	.	ENSP00000365522:A109P	A	-	1	0	C9orf64	85760911	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.741000	0.68638	2.645000	0.89757	0.563000	0.77884	GCC		0.557	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1		NM_032307	
CASZ1	54897	broad.mit.edu	37	1	10699617	10699618	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr1:10699617_10699618insAA	ENST00000377022.3	-	21	4978_4979	c.4661_4662insTT	c.(4660-4662)agcfs	p.S1554fs	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1554					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGCAGTCGGCGCTGGAGCTGAA	0.658																																																	0																																										SO:0001589	frameshift_variant	54897			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.4661_4662insTT	1.37:g.10699617_10699618insAA	ENSP00000366221:p.Ser1554fs	Somatic		WXS	Illumina GAIIx	Phase_I	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Frame_Shift_Ins	INS	ENST00000377022.3	37	CCDS41246.1																																																																																				0.658	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2		NM_017766	
CCBL2	56267	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	89454019	89454019	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr1:89454019C>A	ENST00000260508.4	-	2	352	c.15G>T	c.(13-15)caG>caT	p.Q5H	CCBL2_ENST00000370485.2_Missense_Mutation_p.Q5H|RBMXL1_ENST00000413769.1_5'UTR|RBMXL1_ENST00000321792.5_Intron|CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_5'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	5					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.Q5H(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		AGAGGCTCCTCTGGGCCAAAA	0.383																																																	1	Substitution - Missense(1)	kidney(1)											42.0	45.0	44.0					1																	89454019		2201	4300	6501	SO:0001583	missense	56267			AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.15G>T	1.37:g.89454019C>A	ENSP00000260508:p.Gln5His	Somatic		WXS	Illumina HiSeq	Phase_I	B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Missense_Mutation	SNP	ENST00000260508.4	37	CCDS30766.1	.	.	.	.	.	.	.	.	.	.	C	8.184	0.794505	0.16327	.	.	ENSG00000137944	ENST00000260508;ENST00000370485;ENST00000370486	T;T	0.72505	-0.66;-0.5	5.25	-0.404	0.12396	.	1.310480	0.05252	N	0.514239	T	0.35913	0.0948	L	0.44542	1.39	0.09310	N	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.07654	-1.0761	10	0.24483	T	0.36	2.5175	4.9696	0.14108	0.0:0.4176:0.3151:0.2672	.	5	Q6YP21	KAT3_HUMAN	H	5	ENSP00000260508:Q5H;ENSP00000359517:Q5H	ENSP00000260508:Q5H	Q	-	3	2	CCBL2	89226607	0.000000	0.05858	0.269000	0.24586	0.770000	0.43624	-0.558000	0.05978	-0.352000	0.08237	0.460000	0.39030	CAG		0.383	CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3		NM_001008661	
CCDC65	85478	hgsc.bcm.edu;ucsc.edu	37	12	49312242	49312242	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr12:49312242delT	ENST00000320516.4	+	5	982	c.794delT	c.(793-795)atafs	p.I265fs	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Frame_Shift_Del_p.I265fs	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	265										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						ATGAAAAAAATACAGAAACTA	0.453																																																	0													51.0	52.0	51.0					12																	49312242		2203	4300	6503	SO:0001589	frameshift_variant	85478				CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.794delT	12.37:g.49312242delT	ENSP00000312706:p.Ile265fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Frame_Shift_Del	DEL	ENST00000320516.4	37	CCDS8772.1																																																																																				0.453	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1		NM_033124	
CELF6	60677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	72579669	72579669	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr15:72579669T>A	ENST00000569547.1	-	12	1454	c.1383A>T	c.(1381-1383)caA>caT	p.Q461H	RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000287202.5_Missense_Mutation_p.Q461H|CELF6_ENST00000539635.1_Missense_Mutation_p.Q322H|CELF6_ENST00000543764.2_Missense_Mutation_p.Q324H|CELF6_ENST00000395258.2_Missense_Mutation_p.Q348H|CELF6_ENST00000567083.1_Missense_Mutation_p.Q434H|CELF6_ENST00000569311.1_5'Flank			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	461	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.Q461H(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						TCATGCCAATTTGAAAGCCAT	0.522																																																	1	Substitution - Missense(1)	kidney(1)											125.0	117.0	120.0					15																	72579669		2199	4297	6496	SO:0001583	missense	60677			AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.1383A>T	15.37:g.72579669T>A	ENSP00000454749:p.Gln461His	Somatic		WXS	Illumina HiSeq	Phase_I	B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Missense_Mutation	SNP	ENST00000569547.1	37	CCDS10242.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.356533	0.61293	.	.	ENSG00000140488	ENST00000287202;ENST00000437872;ENST00000543764;ENST00000379915;ENST00000395258;ENST00000539635	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.79	-4.49	0.03504	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	U	0.000006	T	0.28599	0.0708	L	0.37850	1.14	0.48901	D	0.999725	D;D;B;B;D	0.76494	0.999;0.971;0.049;0.012;0.993	D;D;B;B;D	0.87578	0.998;0.99;0.165;0.146;0.997	T	0.01993	-1.1233	10	0.87932	D	0	-7.5353	18.2163	0.89886	0.0:0.8302:0.0:0.1698	.	434;324;348;322;461	B4DJB6;B4DG28;Q96J87-2;B3KWE6;Q96J87	.;.;.;.;CELF6_HUMAN	H	461;434;324;285;348;322	ENSP00000287202:Q461H;ENSP00000439956:Q324H;ENSP00000378677:Q348H;ENSP00000443162:Q322H	ENSP00000287202:Q461H	Q	-	3	2	CELF6	70366723	1.000000	0.71417	0.969000	0.41365	0.954000	0.61252	0.767000	0.26575	-0.726000	0.04895	0.459000	0.35465	CAA		0.522	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1		NM_052840	
CEP68	23177	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	65298597	65298597	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr2:65298597A>T	ENST00000377990.2	+	3	570	c.367A>T	c.(367-369)Acc>Tcc	p.T123S	CEP68_ENST00000546106.1_Missense_Mutation_p.T123S|CEP68_ENST00000260569.4_Missense_Mutation_p.T123S|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000537589.1_5'UTR	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	123					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.T123S(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGTGGAGAAGACCAAGCTTTC	0.453																																																	1	Substitution - Missense(1)	kidney(1)											72.0	73.0	73.0					2																	65298597		2203	4300	6503	SO:0001583	missense	23177			BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.367A>T	2.37:g.65298597A>T	ENSP00000367229:p.Thr123Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	A	12.68	2.009858	0.35415	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.26067	1.76;1.76;1.76	5.88	-8.4	0.00965	.	1.284470	0.05259	N	0.515449	T	0.11153	0.0272	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.16802	0.019;0.019;0.019;0.019;0.019	B;B;B;B;B	0.14578	0.011;0.011;0.011;0.011;0.011	T	0.30563	-0.9974	10	0.09084	T	0.74	0.075	1.3349	0.02142	0.2434:0.2151:0.3319:0.2096	.	111;123;123;123;123	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	S	123;123;123;111	ENSP00000367229:T123S;ENSP00000438306:T123S;ENSP00000260569:T123S	ENSP00000260569:T123S	T	+	1	0	CEP68	65152101	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.534000	0.06150	-1.672000	0.01464	-1.155000	0.01812	ACC		0.453	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2		NM_015147	
CEP76	79959	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	12697299	12697299	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr18:12697299G>A	ENST00000262127.2	-	5	854	c.629C>T	c.(628-630)tCa>tTa	p.S210L	CEP76_ENST00000423709.2_Missense_Mutation_p.S135L|PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000586887.1_5'Flank	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	210					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.S210L(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGAAAATATGATGCTACTAA	0.378																																																	1	Substitution - Missense(1)	kidney(1)											158.0	126.0	137.0					18																	12697299		2203	4300	6503	SO:0001583	missense	79959			BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.629C>T	18.37:g.12697299G>A	ENSP00000262127:p.Ser210Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	ENST00000262127.2	37	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	G	35	5.433912	0.96150	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	D;T	0.81499	-1.5;-1.42	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.88865	0.6553	M	0.74881	2.28	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.975	P;P;P	0.62089	0.898;0.898;0.668	D	0.88316	0.2959	10	0.49607	T	0.09	-9.3721	19.8025	0.96515	0.0:0.0:1.0:0.0	.	135;210;32	Q8TAP6-2;Q8TAP6;Q8TAP6-3	.;CEP76_HUMAN;.	L	210;135	ENSP00000262127:S210L;ENSP00000403074:S135L	ENSP00000262127:S210L	S	-	2	0	CEP76	12687299	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.775000	0.98995	2.762000	0.94881	0.467000	0.42956	TCA		0.378	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1		NM_024899	
CRYL1	51084	broad.mit.edu;ucsc.edu	37	13	21063530	21063530	+	Silent	SNP	T	T	C			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr13:21063530T>C	ENST00000298248.7	-	3	317	c.255A>G	c.(253-255)gtA>gtG	p.V85V	CRYL1_ENST00000480748.1_5'UTR|CRYL1_ENST00000382812.1_Silent_p.V63V	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	85					fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)	p.V85V(1)		NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		TGGCACCCTCTACTGCTTCTT	0.557											OREG0022283	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)											83.0	90.0	88.0					13																	21063530		2021	4181	6202	SO:0001819	synonymous_variant	51084			AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"""crystallin, lamda 1"", ""L-gulonate 3-dehydrogenase"", ""lambda-crystallin homolog"""	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.255A>G	13.37:g.21063530T>C		Somatic	745	WXS	Illumina GAIIx	Phase_I	A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Silent	SNP	ENST00000298248.7	37	CCDS41871.1																																																																																				0.557	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044071.1		NM_015974	
EFHC2	80258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	44108155	44108155	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chrX:44108155G>T	ENST00000420999.1	-	6	949	c.866C>A	c.(865-867)cCa>cAa	p.P289Q		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	289	DM10 2. {ECO:0000255|PROSITE- ProRule:PRU00665}.						calcium ion binding (GO:0005509)	p.P289Q(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						GACTCTAGGTGGGCAATTCTG	0.433																																																	1	Substitution - Missense(1)	kidney(1)											59.0	52.0	54.0					X																	44108155		1869	4093	5962	SO:0001583	missense	80258			AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.866C>A	X.37:g.44108155G>T	ENSP00000404232:p.Pro289Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	ENST00000420999.1	37	CCDS55405.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563531	0.65651	.	.	ENSG00000183690	ENST00000333807;ENST00000420999;ENST00000378056	T;T	0.68765	-0.34;-0.35	5.74	5.74	0.90152	Uncharacterised domain DM10 (2);	0.066369	0.64402	D	0.000013	T	0.81226	0.4778	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80638	-0.1293	10	0.42905	T	0.14	-13.3283	17.3512	0.87324	0.0:0.0:1.0:0.0	.	289	Q5JST6	EFHC2_HUMAN	Q	289;317;93	ENSP00000333823:P289Q;ENSP00000404232:P317Q	ENSP00000333823:P289Q	P	-	2	0	EFHC2	43993099	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	4.921000	0.63397	2.415000	0.81967	0.600000	0.82982	CCA		0.433	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2		NM_025184	
EHHADH	1962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	184947235	184947235	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr3:184947235C>T	ENST00000231887.3	-	4	523	c.448G>A	c.(448-450)Gac>Aac	p.D150N	EHHADH_ENST00000456310.1_Missense_Mutation_p.D54N|EHHADH_ENST00000475987.1_5'UTR	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	150	Enoyl-CoA hydratase / isomerase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)	p.D150N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			GTAATTAAGTCAAGTGCAGCA	0.463																																																	1	Substitution - Missense(1)	kidney(1)											79.0	73.0	75.0					3																	184947235		2203	4300	6503	SO:0001583	missense	1962			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.448G>A	3.37:g.184947235C>T	ENSP00000231887:p.Asp150Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.800055	0.70567	.	.	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000456310	T;T	0.69306	-0.39;-0.39	6.07	6.07	0.98685	Crotonase, core (1);	0.220504	0.53938	D	0.000056	T	0.68751	0.3035	M	0.66439	2.03	0.80722	D	1	P	0.42556	0.783	B	0.40256	0.324	T	0.69669	-0.5083	10	0.45353	T	0.12	-30.5334	19.4153	0.94694	0.0:1.0:0.0:0.0	.	150	Q08426	ECHP_HUMAN	N	150;150;54	ENSP00000231887:D150N;ENSP00000387746:D54N	ENSP00000231887:D150N	D	-	1	0	EHHADH	186429929	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	4.248000	0.58760	2.890000	0.99128	0.650000	0.86243	GAC		0.463	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			
EXOC6B	23233	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	72411218	72411218	+	Silent	SNP	C	C	G			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr2:72411218C>G	ENST00000272427.6	-	21	2425	c.2295G>C	c.(2293-2295)ctG>ctC	p.L765L	EXOC6B_ENST00000490919.1_5'UTR	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	765					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)		p.L765L(1)|p.L302L(1)		breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CAAGCAGGGTCAGAGCAGTCA	0.512																																																	2	Substitution - coding silent(2)	kidney(2)											44.0	43.0	44.0					2																	72411218		1947	4132	6079	SO:0001819	synonymous_variant	23233			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.2295G>C	2.37:g.72411218C>G		Somatic		WXS	Illumina HiSeq	Phase_I	B8ZZY3	Silent	SNP	ENST00000272427.6	37	CCDS46333.1																																																																																				0.512	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1		XM_039570	
FAAH2	158584	hgsc.bcm.edu;ucsc.edu	37	X	57367784	57367784	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chrX:57367784G>A	ENST00000374900.4	+	5	823	c.703G>A	c.(703-705)Gct>Act	p.A235T		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	235						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TCGAATGCCTGCTTTCTTCAA	0.423										HNSCC(52;0.14)																																							0													221.0	201.0	208.0					X																	57367784		2203	4300	6503	SO:0001583	missense	158584			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.703G>A	X.37:g.57367784G>A	ENSP00000364035:p.Ala235Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080399	0.55753	.	.	ENSG00000165591	ENST00000374900	D	0.83250	-1.7	2.21	2.21	0.28008	Amidase, conserved site (1);Amidase signature domain (2);	0.687784	0.13262	U	0.401206	D	0.92639	0.7661	H	0.95187	3.635	0.32964	D	0.521387	D	0.71674	0.998	D	0.80764	0.994	D	0.92126	0.5708	10	0.72032	D	0.01	.	9.611	0.39663	0.0:0.0:1.0:0.0	.	235	Q6GMR7	FAAH2_HUMAN	T	235	ENSP00000364035:A235T	ENSP00000364035:A235T	A	+	1	0	FAAH2	57384509	0.971000	0.33674	0.998000	0.56505	0.995000	0.86356	1.719000	0.38011	1.116000	0.41820	0.600000	0.82982	GCT		0.423	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1		NM_174912	
FAM179B	23116	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	45433557	45433557	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr14:45433557T>A	ENST00000361577.3	+	1	2147	c.1933T>A	c.(1933-1935)Tgt>Agt	p.C645S	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_Missense_Mutation_p.C645S|FAM179B_ENST00000361462.2_Missense_Mutation_p.C645S|KLHL28_ENST00000396128.4_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	645								p.C645S(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CCCAACTATCTGTACCCGAAG	0.453																																																	1	Substitution - Missense(1)	kidney(1)											76.0	71.0	73.0					14																	45433557		2203	4300	6503	SO:0001583	missense	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1933T>A	14.37:g.45433557T>A	ENSP00000355045:p.Cys645Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.487935	0.26686	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.04406	3.63;3.63;3.63	4.93	4.93	0.64822	Armadillo-type fold (1);	0.325242	0.29594	N	0.011710	T	0.02807	0.0084	N	0.14661	0.345	0.34911	D	0.747464	B;P;B;B	0.42248	0.063;0.774;0.05;0.063	B;B;B;B	0.36608	0.04;0.229;0.02;0.04	T	0.53121	-0.8483	10	0.12103	T	0.63	-8.7338	10.9056	0.47078	0.0:0.0:0.0:1.0	.	645;645;645;645	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	S	645	ENSP00000355045:C645S;ENSP00000354917:C645S;ENSP00000371668:C645S	ENSP00000354917:C645S	C	+	1	0	FAM179B	44503307	0.846000	0.29590	0.965000	0.40720	0.547000	0.35210	1.258000	0.32944	2.077000	0.62373	0.459000	0.35465	TGT		0.453	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1		XM_113781	
FAM186A	121006	hgsc.bcm.edu	37	12	50746313	50746348	+	In_Frame_Del	DEL	AGTGATCTCCTGAGCCTGTGCCTGCTGAGGGGTGAA	AGTGATCTCCTGAGCCTGTGCCTGCTGAGGGGTGAA	-	rs71459098|rs7304951	byFrequency	TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	AGTGATCTCCTGAGCCTGTGCCTGCTGAGGGGTGAA	AGTGATCTCCTGAGCCTGTGCCTGCTGAGGGGTGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr12:50746313_50746348delAGTGATCTCCTGAGCCTGTGCCTGCTGAGGGGTGAA	ENST00000327337.5	-	4	4266_4301	c.4267_4302delTTCACCCCTCAGCAGGCACAGGCTCAGGAGATCACT	c.(4267-4302)ttcacccctcagcaggcacaggctcaggagatcactdel	p.FTPQQAQAQEIT1423del	FAM186A_ENST00000543111.1_In_Frame_Del_p.FTPQQAQAQEIT1423del|FAM186A_ENST00000543096.1_5'Flank	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1423								p.T1434P(1)									GAGGGGTGAGAGTGATCTCCTGAGCCTGTGCCTGCTGAGGGGTGAAAGGGATCCCC	0.631																																					NSCLC(138;1796 1887 12511 19463 37884)												1	Substitution - Missense(1)	skin(1)																																								SO:0001651	inframe_deletion	121006				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.4267_4302delTTCACCCCTCAGCAGGCACAGGCTCAGGAGATCACT	12.37:g.50746313_50746348delAGTGATCTCCTGAGCCTGTGCCTGCTGAGGGGTGAA	ENSP00000329995:p.Phe1423_Thr1434del	Somatic		WXS	Illumina HiSeq	Phase_I		In_Frame_Del	DEL	ENST00000327337.5	37	CCDS44878.1																																																																																				0.631	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396838.1		XM_001718353	
FGF13	2258	broad.mit.edu;ucsc.edu	37	X	137793084	137793084	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chrX:137793084C>A	ENST00000315930.6	-	1	743	c.82G>T	c.(82-84)Gtc>Ttc	p.V28F	FGF13_ENST00000441825.2_Intron|FGF13_ENST00000541469.1_Intron|FGF13-AS1_ENST00000446383.1_RNA|FGF13-AS1_ENST00000438238.1_RNA|FGF13_ENST00000305414.4_Intron|FGF13_ENST00000370603.3_Intron	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	28	Mediates targeting to the nucleus. {ECO:0000250}.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)	p.V28F(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GGGCTGCTGACACACTTGCAG	0.587																																																	1	Substitution - Missense(1)	kidney(1)											129.0	119.0	123.0					X																	137793084		2203	4300	6503	SO:0001583	missense	2258			BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.82G>T	X.37:g.137793084C>A	ENSP00000322390:p.Val28Phe	Somatic		WXS	Illumina GAIIx	Phase_I	B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000315930.6	37	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552452	0.65311	.	.	ENSG00000129682	ENST00000315930	T	0.76839	-1.05	4.5	4.5	0.54988	.	.	.	.	.	T	0.60495	0.2273	N	0.08118	0	0.80722	D	1	B	0.20459	0.045	B	0.29663	0.105	T	0.56050	-0.8043	9	0.09843	T	0.71	.	15.7214	0.77713	0.0:1.0:0.0:0.0	.	28	Q92913	FGF13_HUMAN	F	28	ENSP00000322390:V28F	ENSP00000322390:V28F	V	-	1	0	FGF13	137620750	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.536000	0.60636	1.986000	0.57962	0.529000	0.55759	GTC		0.587	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2		NM_004114	
FMO2	2327	hgsc.bcm.edu;ucsc.edu	37	1	171174636	171174637	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr1:171174636_171174637insA	ENST00000209929.7	+	7	1204_1205	c.1046_1047insA	c.(1045-1050)atggtcfs	p.MV349fs	RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000441535.1_Frame_Shift_Ins_p.MV349fs			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	348					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGAATAATATGGTCTCACTGT	0.436																																																	0																																										SO:0001589	frameshift_variant	2327			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	Exception_encountered	1.37:g.171174636_171174637insA	ENSP00000209929:p.Met349fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q53XR0	Frame_Shift_Ins	INS	ENST00000209929.7	37	CCDS1293.1																																																																																				0.436	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2		NM_001460	
GPR128	84873	broad.mit.edu;ucsc.edu	37	3	100356181	100356181	+	Silent	SNP	C	C	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr3:100356181C>T	ENST00000273352.3	+	6	901	c.633C>T	c.(631-633)ctC>ctT	p.L211L	GPR128_ENST00000475887.1_5'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	211					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L211L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TGAGTCAACTCCTAGATGCCA	0.378																																					Pancreas(87;185 1975 7223 18722)												1	Substitution - coding silent(1)	kidney(1)											155.0	137.0	143.0					3																	100356181		2203	4300	6503	SO:0001819	synonymous_variant	84873			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.633C>T	3.37:g.100356181C>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q14D94|Q86SQ2	Silent	SNP	ENST00000273352.3	37	CCDS2938.1																																																																																				0.378	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			
GPT2	84706	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	46950590	46950590	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr16:46950590G>T	ENST00000340124.4	+	7	983	c.871G>T	c.(871-873)Gaa>Taa	p.E291*	GPT2_ENST00000440783.2_Nonsense_Mutation_p.E191*	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	291					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)	p.E291*(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	CTTTGCCTGGGAAGAGAAGCT	0.473																																																	1	Substitution - Nonsense(1)	kidney(1)											261.0	255.0	257.0					16																	46950590		2203	4300	6503	SO:0001587	stop_gained	84706				CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.871G>T	16.37:g.46950590G>T	ENSP00000345282:p.Glu291*	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N9E2	Nonsense_Mutation	SNP	ENST00000340124.4	37	CCDS10725.1	.	.	.	.	.	.	.	.	.	.	G	38	6.705586	0.97776	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	.	.	.	5.31	5.31	0.75309	.	0.124745	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	19.3281	0.94270	0.0:0.0:1.0:0.0	.	.	.	.	X	291;191	.	ENSP00000345282:E291X	E	+	1	0	GPT2	45508091	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	3.584000	0.53936	2.629000	0.89072	0.650000	0.86243	GAA		0.473	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			
HAO2	51179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	119923771	119923771	+	Silent	SNP	T	T	C			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr1:119923771T>C	ENST00000325945.3	+	2	136	c.63T>C	c.(61-63)acT>acC	p.T21T	HAO2_ENST00000361035.4_Silent_p.T34T	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	21	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.T21T(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		CTAAGTCAACTCGGGATTTTA	0.463																																																	1	Substitution - coding silent(1)	kidney(1)											195.0	184.0	188.0					1																	119923771		2203	4300	6503	SO:0001819	synonymous_variant	51179			AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.63T>C	1.37:g.119923771T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q2TU86|Q5QP00|Q9UJS6	Silent	SNP	ENST00000325945.3	37	CCDS901.1																																																																																				0.463	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1		NM_001005783	
HERC2P2	400322	broad.mit.edu	37	15	23326128	23326128	+	RNA	DEL	A	A	-			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr15:23326128delA	ENST00000560464.1	-	0	2058									hect domain and RLD 2 pseudogene 2																		GGATCAAATCAACATCCTTTA	0.413																																																	0																																												400322			AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23326128delA		Somatic		WXS	Illumina GAIIx	Phase_I		Frame_Shift_Del	DEL	ENST00000560464.1	37																																																																																					0.413	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			
HERC2	8924	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	28436294	28436294	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr15:28436294C>A	ENST00000261609.7	-	54	8656	c.8548G>T	c.(8548-8550)Gta>Tta	p.V2850L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.V2850L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCTGACACTACAACCAGGGAC	0.373																																																	1	Substitution - Missense(1)	kidney(1)											113.0	113.0	113.0					15																	28436294		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8548G>T	15.37:g.28436294C>A	ENSP00000261609:p.Val2850Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705082	0.68615	.	.	ENSG00000128731	ENST00000261609	T	0.71579	-0.58	5.56	5.56	0.83823	Anaphase-promoting complex, subunit 10/DOC domain (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000001	D	0.83922	0.5359	M	0.72353	2.195	0.80722	D	1	P;D	0.69078	0.704;0.997	B;D	0.79108	0.197;0.992	T	0.82585	-0.0384	10	0.44086	T	0.13	.	19.8813	0.96900	0.0:1.0:0.0:0.0	.	317;2850	A8KAQ8;O95714	.;HERC2_HUMAN	L	2850	ENSP00000261609:V2850L	ENSP00000261609:V2850L	V	-	1	0	HERC2	26109889	1.000000	0.71417	0.182000	0.23118	0.732000	0.41865	7.776000	0.85560	2.770000	0.95276	0.643000	0.83706	GTA		0.373	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2		NM_004667	
HIST1H1C	3006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	26056217	26056217	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr6:26056217G>A	ENST00000343677.2	-	1	482	c.440C>T	c.(439-441)cCg>cTg	p.P147L		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	147					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.P147L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCTCTTCTTCGGAGTTGCGCC	0.577																																																	1	Substitution - Missense(1)	kidney(1)											67.0	79.0	75.0					6																	26056217		2202	4296	6498	SO:0001583	missense	3006			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.440C>T	6.37:g.26056217G>A	ENSP00000339566:p.Pro147Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	CCDS4577.1	.	.	.	.	.	.	.	.	.	.	G	7.033	0.560946	0.13498	.	.	ENSG00000187837	ENST00000343677	T	0.04654	3.58	4.76	3.9	0.45041	.	0.501449	0.19452	N	0.113911	T	0.01156	0.0038	N	0.14661	0.345	0.19945	N	0.999943	B	0.06786	0.001	B	0.04013	0.001	T	0.46303	-0.9201	10	0.62326	D	0.03	-9.3723	8.9634	0.35860	0.1017:0.0:0.8983:0.0	.	147	P16403	H12_HUMAN	L	147	ENSP00000339566:P147L	ENSP00000339566:P147L	P	-	2	0	HIST1H1C	26164196	0.035000	0.19736	0.034000	0.17996	0.039000	0.13416	1.155000	0.31700	1.364000	0.46038	0.655000	0.94253	CCG		0.577	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1		NM_005319	
HMCN1	83872	hgsc.bcm.edu;ucsc.edu	37	1	186114885	186114885	+	Splice_Site	SNP	T	T	C			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr1:186114885T>C	ENST00000271588.4	+	93	14667	c.14438T>C	c.(14437-14439)gTg>gCg	p.V4813A	HMCN1_ENST00000367492.2_Splice_Site_p.V4813A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4813					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGTTCACAGTGGATGGAAGT	0.483																																																	0													63.0	64.0	64.0					1																	186114885		2203	4300	6503	SO:0001630	splice_region_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14438-1T>C	1.37:g.186114885T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117599	0.77323	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.62364	0.03;0.03	5.44	5.44	0.79542	.	0.054434	0.64402	D	0.000001	T	0.55337	0.1914	M	0.66378	2.025	0.53005	D	0.999964	P	0.37636	0.603	B	0.32149	0.141	T	0.57481	-0.7804	9	.	.	.	.	9.934	0.41539	0.0:0.0759:0.0:0.9241	.	4813	Q96RW7	HMCN1_HUMAN	A	4813	ENSP00000271588:V4813A;ENSP00000356462:V4813A	.	V	+	2	0	HMCN1	184381508	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.917000	0.69989	2.063000	0.61619	0.533000	0.62120	GTG		0.483	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935	Missense_Mutation
ITGA6	3655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	173354378	173354378	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr2:173354378A>G	ENST00000264106.6	+	21	2991	c.2788A>G	c.(2788-2790)Aac>Gac	p.N930D	ITGA6_ENST00000409080.1_Missense_Mutation_p.N891D|ITGA6_ENST00000264107.7_Missense_Mutation_p.N891D|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Missense_Mutation_p.N772D|ITGA6_ENST00000343713.4_Missense_Mutation_p.N886D|ITGA6_ENST00000375221.2_Missense_Mutation_p.N930D			P23229	ITA6_HUMAN	integrin, alpha 6	930					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.N891D(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AAACTCCCTGAACCTAACGGT	0.363																																																	2	Substitution - Missense(2)	kidney(2)											66.0	60.0	62.0					2																	173354378		2203	4300	6503	SO:0001583	missense	3655				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2788A>G	2.37:g.173354378A>G	ENSP00000264106:p.Asn930Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37		.	.	.	.	.	.	.	.	.	.	A	5.405	0.259894	0.10239	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.36	2.87	0.33458	.	0.729179	0.14159	N	0.337495	T	0.28366	0.0701	N	0.25890	0.77	0.21020	N	0.999806	B;B;B	0.21520	0.01;0.057;0.057	B;B;B	0.25405	0.015;0.038;0.06	T	0.27872	-1.0061	10	0.06891	T	0.86	.	6.1788	0.20459	0.598:0.256:0.146:0.0	.	886;891;891	P23229-4;G5E9H1;P23229-2	.;.;.	D	772;891;930;930;886;891;930;886	ENSP00000386614:N772D;ENSP00000264107:N891D;ENSP00000264106:N930D;ENSP00000364369:N930D;ENSP00000341078:N886D;ENSP00000386896:N891D;ENSP00000406694:N930D;ENSP00000394169:N886D	ENSP00000264106:N930D	N	+	1	0	ITGA6	173062624	0.000000	0.05858	0.019000	0.16419	0.006000	0.05464	0.171000	0.16685	0.877000	0.35895	0.482000	0.46254	AAC		0.363	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				
KLHL25	64410	broad.mit.edu	37	15	86312584	86312584	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr15:86312584A>G	ENST00000337975.5	-	2	732	c.458T>C	c.(457-459)aTg>aCg	p.M153T	KLHL25_ENST00000536947.1_Missense_Mutation_p.M153T|KLHL25_ENST00000559131.1_Intron|MIR1276_ENST00000408707.1_RNA	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	153	BACK.				protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)		p.M153T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CGAGAGCAGCATCATGCCCAG	0.617																																																	1	Substitution - Missense(1)	kidney(1)											84.0	82.0	82.0					15																	86312584		2202	4299	6501	SO:0001583	missense	64410				CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.458T>C	15.37:g.86312584A>G	ENSP00000336800:p.Met153Thr	Somatic		WXS	Illumina GAIIx	Phase_I	B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.099770	0.37048	.	.	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.68624	-0.34;-0.34	4.85	4.85	0.62838	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.79221	0.4409	M	0.84773	2.715	0.51012	D	0.999905	B	0.20368	0.044	B	0.43360	0.417	T	0.80360	-0.1415	10	0.72032	D	0.01	.	13.6216	0.62140	1.0:0.0:0.0:0.0	.	153	Q9H0H3	ENC2_HUMAN	T	153;122;153	ENSP00000336800:M153T;ENSP00000444739:M153T	ENSP00000336800:M153T	M	-	2	0	KLHL25	84113588	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.339000	0.96797	1.824000	0.53156	0.379000	0.24179	ATG		0.617	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1		NM_022480	
LRRC37A6P	387646	broad.mit.edu;ucsc.edu	37	10	27538399	27538399	+	lincRNA	SNP	C	C	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr10:27538399C>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							AGCCCCAAATCCAAAGGTTGA	0.507																																																	0													107.0	96.0	99.0					10																	27538399		692	1591	2283			0																															10.37:g.27538399C>A		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000574842.1	37																																																																																					0.507	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			
LOC441666	441666	broad.mit.edu	37	10	42833086	42833087	+	RNA	DEL	TA	TA	-	rs142580076	byFrequency	TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	TA	TA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr10:42833086_42833087delTA	ENST00000609841.1	-	0	816_817					NR_024380.1																						CAGTATGAACTATGTTATGTTG	0.361														322	0.0642971	0.0514	0.0389	5008	,	,		20024	0.127		0.0437	False		,,,				2504	0.0562																0																																												441666																															10.37:g.42833086_42833087delTA		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000609841.1	37																																																																																					0.361	RP11-313J2.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472483.1			
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81444807	81444807	+	RNA	DEL	G	G	-			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr10:81444807delG	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GCCCCCGAGAGGAGCAGCAAG	0.597																																																	0																																												0																															10.37:g.81444807delG		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000600376.1	37																																																																																					0.597	RP11-119F19.2-004	KNOWN	basic	antisense	antisense	OTTHUMT00000461766.1			
LOC645166	645166	broad.mit.edu	37	2	91843471	91843471	+	RNA	SNP	C	C	T	rs113954000		TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr2:91843471C>T	ENST00000609777.1	-	0	121																											CTGGACGCAGCCATGCTGGGC	0.602																																																	0																																												654342																															2.37:g.91843471C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000609777.1	37																																																																																					0.602	AC027612.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471986.1			
LPP	4026	broad.mit.edu;hgsc.bcm.edu	37	3	188426055	188426055	+	Splice_Site	SNP	G	G	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr3:188426055G>T	ENST00000312675.4	+	7	1360	c.1114G>T	c.(1114-1116)Ggt>Tgt	p.G372C	LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_Splice_Site_p.G372C|LPP_ENST00000448637.1_Splice_Site_p.G372C	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	372		Breakpoint for translocation to form HMGA2-LPP.			cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.G372C(1)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TGCCTTTCAGGGTGGCCATTC	0.517			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																			Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		"""L, M"""	1	Substitution - Missense(1)	kidney(1)											94.0	86.0	88.0					3																	188426055		2203	4300	6503	SO:0001630	splice_region_variant	4026			AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1114-1G>T	3.37:g.188426055G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.224385	0.39300	.	.	ENSG00000145012	ENST00000448637;ENST00000312675;ENST00000543006;ENST00000415906	T;T;T;T	0.57273	1.69;0.41;0.41;1.29	5.74	0.867	0.19085	.	0.313426	0.27846	N	0.017613	T	0.51160	0.1658	L	0.48642	1.525	0.53005	D	0.999969	P;D;P	0.61697	0.898;0.99;0.805	P;P;B	0.53593	0.455;0.73;0.285	T	0.42310	-0.9459	9	.	.	.	.	8.1565	0.31171	0.4873:0.0:0.5127:0.0	.	225;372;372	B7Z8W0;C9JUT4;Q93052	.;.;LPP_HUMAN	C	372;372;372;209	ENSP00000393602:G372C;ENSP00000318089:G372C;ENSP00000438891:G372C;ENSP00000393008:G209C	.	G	+	1	0	LPP	189908749	0.998000	0.40836	0.998000	0.56505	0.122000	0.20287	0.297000	0.19101	0.076000	0.16826	0.563000	0.77884	GGT		0.517	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1		NM_005578	Missense_Mutation
MFHAS1	9258	broad.mit.edu	37	8	8749266	8749266	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr8:8749266delC	ENST00000276282.6	-	1	1889	c.1303delG	c.(1303-1305)gagfs	p.E435fs		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	435	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GGGCATCCCTCCACTCTCTCC	0.647																																					Melanoma(103;1201 2045 17515 28966)												0													66.0	56.0	60.0					8																	8749266		2203	4300	6503	SO:0001589	frameshift_variant	9258			AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.1303delG	8.37:g.8749266delC	ENSP00000276282:p.Glu435fs	Somatic		WXS	Illumina GAIIx	Phase_I	Q96CI0	Frame_Shift_Del	DEL	ENST00000276282.6	37	CCDS34844.1																																																																																				0.647	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2		NM_004225	
MPDZ	8777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	13224388	13224388	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr9:13224388G>C	ENST00000319217.7	-	4	625	c.378C>G	c.(376-378)atC>atG	p.I126M	MPDZ_ENST00000536827.1_Missense_Mutation_p.I126M|MPDZ_ENST00000541718.1_Missense_Mutation_p.I126M|MPDZ_ENST00000381015.4_Missense_Mutation_p.I126M|MPDZ_ENST00000447879.1_Missense_Mutation_p.I126M|MPDZ_ENST00000381022.2_Missense_Mutation_p.I126M|MPDZ_ENST00000546205.1_Missense_Mutation_p.I126M	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	126					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.I126M(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CCATATTTTTGATAAGCTGAT	0.333																																																	2	Substitution - Missense(2)	kidney(2)											111.0	105.0	107.0					9																	13224388		1826	4080	5906	SO:0001583	missense	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.378C>G	9.37:g.13224388G>C	ENSP00000320006:p.Ile126Met	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	G	16.72	3.200820	0.58234	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.16743	2.38;2.33;2.33;2.32;2.36;2.38;2.38	5.72	0.0386	0.14201	.	0.142508	0.32055	N	0.006648	T	0.22898	0.0553	L	0.36672	1.1	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.83275	0.994;0.989;0.996	T	0.09357	-1.0678	10	0.87932	D	0	.	3.0449	0.06151	0.2132:0.1188:0.5456:0.1224	.	126;126;126	B7ZMI4;O75970-3;O75970-2	.;.;.	M	126	ENSP00000320006:I126M;ENSP00000439807:I126M;ENSP00000370410:I126M;ENSP00000444151:I126M;ENSP00000415208:I126M;ENSP00000370403:I126M;ENSP00000446358:I126M	ENSP00000320006:I126M	I	-	3	3	MPDZ	13214388	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	1.130000	0.31393	0.007000	0.14760	0.655000	0.94253	ATC		0.333	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2		NM_003829	
NBPF9	400818	broad.mit.edu	37	1	144813815	144813815	+	Silent	SNP	A	A	G	rs371436644		TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr1:144813815A>G	ENST00000440491.2	+	2	288	c.288A>G	c.(286-288)gcA>gcG	p.A96A	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Silent_p.A96A|NBPF9_ENST00000281815.8_5'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	354						cytoplasm (GO:0005737)		p.A96A(5)		NS(2)|prostate(1)	3						AGAAGCTTGCAGAGCAGCTGA	0.532																																																	5	Substitution - coding silent(5)	kidney(4)|endometrium(1)											1.0	1.0	1.0					1																	144813815		263	708	971	SO:0001819	synonymous_variant	400818				CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.288A>G	1.37:g.144813815A>G		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000440491.2	37		.	.	.	.	.	.	.	.	.	.	.	1.684	-0.505860	0.04261	.	.	ENSG00000168614	ENST00000375552	.	.	.	0.723	-0.563	0.11778	.	.	.	.	.	T	0.07908	0.0198	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.36040	-0.9764	4	.	.	.	.	2.9279	0.05789	0.6738:0.0:0.3262:0.0	.	.	.	.	R	95	.	.	Q	+	2	0	NBPF9	143525172	0.031000	0.19500	0.003000	0.11579	0.003000	0.03518	0.134000	0.15932	-0.209000	0.10156	-1.211000	0.01629	CAG		0.532	NBPF9-203	KNOWN	basic	protein_coding	protein_coding			NM_001037675	
NEUROD1	4760	hgsc.bcm.edu	37	2	182542656	182542657	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr2:182542656_182542657insC	ENST00000295108.3	-	2	1388_1389	c.931_932insG	c.(931-933)gccfs	p.A311fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	311					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GTGGCTTTGGGCCCCTGCCAGT	0.51																																																	0																																										SO:0001589	frameshift_variant	4760			U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.932dupG	2.37:g.182542660_182542660dupC	ENSP00000295108:p.Ala311fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Frame_Shift_Ins	INS	ENST00000295108.3	37	CCDS2283.1																																																																																				0.510	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2		NM_002500	
NOS1AP	9722	broad.mit.edu	37	1	162040040	162040040	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr1:162040040G>A	ENST00000361897.5	+	1	475	c.73G>A	c.(73-75)Gcc>Acc	p.A25T	NOS1AP_ENST00000530878.1_Missense_Mutation_p.A25T	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	25					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)	p.A25T(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CAACGAGGACGCCTTCCAGCA	0.632																																																	2	Substitution - Missense(2)	kidney(2)											90.0	78.0	82.0					1																	162040040		2203	4300	6503	SO:0001583	missense	9722			AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.73G>A	1.37:g.162040040G>A	ENSP00000355133:p.Ala25Thr	Somatic		WXS	Illumina GAIIx	Phase_I	B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	G	35	5.488124	0.96323	.	.	ENSG00000198929	ENST00000530878;ENST00000361897	T;T	0.13901	2.55;2.55	4.65	4.65	0.58169	Pleckstrin homology-type (1);	0.132702	0.49916	D	0.000121	T	0.26085	0.0636	M	0.65975	2.015	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.964;0.983;0.951	T	0.02925	-1.1093	9	0.51188	T	0.08	.	16.1164	0.81306	0.0:0.0:1.0:0.0	.	25;25;25	E9PSG0;B7ZLF5;O75052	.;.;CAPON_HUMAN	T	25	ENSP00000431586:A25T;ENSP00000355133:A25T	ENSP00000355133:A25T	A	+	1	0	NOS1AP	160306664	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.638000	0.74309	2.101000	0.63845	0.462000	0.41574	GCC		0.632	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2		NM_014697	
NUP98	4928	broad.mit.edu;ucsc.edu	37	11	3700799	3700799	+	Silent	SNP	G	G	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr11:3700799G>A	ENST00000324932.7	-	31	5478	c.5058C>T	c.(5056-5058)ctC>ctT	p.L1686L	NUP98_ENST00000359171.4_Silent_p.L1612L|NUP98_ENST00000355260.3_Silent_p.L1612L	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1703					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.L1686L(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GTATATGGCGGAGCATTTCAA	0.463			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	1	Substitution - coding silent(1)	kidney(1)											91.0	88.0	89.0					11																	3700799		2201	4298	6499	SO:0001819	synonymous_variant	4928			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.5058C>T	11.37:g.3700799G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Silent	SNP	ENST00000324932.7	37	CCDS7746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.664|1.664	-0.510698|-0.510698	0.04231|0.04231	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000429801|ENST00000533346	.|.	.|.	.|.	5.58|5.58	0.227|0.227	0.15359|0.15359	.|.	.|.	.|.	.|.	.|.	T|T	0.42494|0.42494	0.1205|0.1205	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.22977|0.22977	-1.0201|-1.0201	4|4	.|.	.|.	.|.	-4.8082|-4.8082	2.1117|2.1117	0.03704|0.03704	0.2293:0.2538:0.399:0.1179|0.2293:0.2538:0.399:0.1179	.|.	.|.	.|.	.|.	S|F	639|40	.|.	.|.	P|S	-|-	1|2	0|0	NUP98|NUP98	3657375|3657375	0.974000|0.974000	0.33945|0.33945	0.990000|0.990000	0.47175|0.47175	0.300000|0.300000	0.27592|0.27592	0.139000|0.139000	0.16036|0.16036	0.074000|0.074000	0.16767|0.16767	-0.384000|-0.384000	0.06662|0.06662	CCG|TCC		0.463	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3		NM_016320	
OBSL1	23363	broad.mit.edu	37	2	220435111	220435111	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr2:220435111delC	ENST00000404537.1	-	1	900	c.844delG	c.(844-846)gagfs	p.E282fs	INHA_ENST00000489456.1_Intron|INHA_ENST00000243786.2_5'Flank|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000265318.4_Frame_Shift_Del_p.E282fs|OBSL1_ENST00000289656.3_Intron|OBSL1_ENST00000603926.1_Frame_Shift_Del_p.E282fs|OBSL1_ENST00000373876.1_Frame_Shift_Del_p.E282fs|OBSL1_ENST00000373873.4_Frame_Shift_Del_p.E282fs	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	282	Ig-like 3.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGGCGGCCCTCCCAGTGCCAT	0.667																																																	0													25.0	32.0	30.0					2																	220435111		2034	4154	6188	SO:0001589	frameshift_variant	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.844delG	2.37:g.220435111delC	ENSP00000385636:p.Glu282fs	Somatic		WXS	Illumina GAIIx	Phase_I	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Frame_Shift_Del	DEL	ENST00000404537.1	37	CCDS46520.1																																																																																				0.667	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			
OR4C12	283093	broad.mit.edu;hgsc.bcm.edu	37	11	50003804	50003804	+	Missense_Mutation	SNP	C	C	A	rs372332230		TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr11:50003804C>A	ENST00000335238.4	-	1	267	c.234G>T	c.(232-234)aaG>aaT	p.K78N		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K78N(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						CCACAATCAACTTAGGAGCTG	0.433																																																	1	Substitution - Missense(1)	kidney(1)											79.0	82.0	81.0					11																	50003804		2201	4296	6497	SO:0001583	missense	283093			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.234G>T	11.37:g.50003804C>A	ENSP00000334418:p.Lys78Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	8.500	0.864060	0.17250	.	.	ENSG00000221954	ENST00000335238	T	0.01359	4.98	3.31	-1.12	0.09808	GPCR, rhodopsin-like superfamily (1);	0.154905	0.28815	U	0.014054	T	0.02267	0.0070	M	0.78344	2.41	0.09310	N	0.999995	P	0.38078	0.617	B	0.40375	0.327	T	0.33828	-0.9853	10	0.54805	T	0.06	.	3.5676	0.07905	0.1761:0.3764:0.0:0.4475	.	78	Q96R67	OR4CC_HUMAN	N	78	ENSP00000334418:K78N	ENSP00000334418:K78N	K	-	3	2	OR4C12	49960380	0.000000	0.05858	0.017000	0.16124	0.796000	0.44982	-1.681000	0.01937	-0.339000	0.08401	0.398000	0.26397	AAG		0.433	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1		NM_001005270	
PBRM1	55193	broad.mit.edu;ucsc.edu	37	3	52637738	52637738	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr3:52637738C>T	ENST00000296302.7	-	17	2579	c.2578G>A	c.(2578-2580)Gaa>Aaa	p.E860K	PBRM1_ENST00000409114.3_Missense_Mutation_p.E875K|PBRM1_ENST00000409057.1_Missense_Mutation_p.E860K|PBRM1_ENST00000410007.1_Missense_Mutation_p.E860K|PBRM1_ENST00000409767.1_Missense_Mutation_p.E875K|PBRM1_ENST00000337303.4_Missense_Mutation_p.E860K|PBRM1_ENST00000394830.3_Missense_Mutation_p.E860K|PBRM1_ENST00000356770.4_Missense_Mutation_p.E828K			Q86U86	PB1_HUMAN	polybromo 1	860	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.E860K(2)|p.E828K(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCATATATTTCTGAATCTGTC	0.323			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Missense(3)	kidney(3)											45.0	43.0	44.0					3																	52637738		2203	4296	6499	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2578G>A	3.37:g.52637738C>T	ENSP00000296302:p.Glu860Lys	Somatic		WXS	Illumina GAIIx	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	25.6	4.650801	0.87958	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.72	5.72	0.89469	Bromodomain (5);	0.000000	0.85682	D	0.000000	T	0.54224	0.1845	L	0.54323	1.7	0.80722	D	1	D;D;P;D;D;D;D;D;D	0.69078	0.997;0.982;0.947;0.997;0.992;0.997;0.991;0.997;0.997	D;P;D;D;D;D;P;D;D	0.77004	0.984;0.785;0.924;0.978;0.968;0.989;0.852;0.978;0.978	T	0.51411	-0.8709	10	0.72032	D	0.01	-28.662	20.2504	0.98404	0.0:1.0:0.0:0.0	.	860;860;860;860;875;875;860;828;860	Q86U86-9;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	K	828;860;860;860;860;860;875;875;860;819	ENSP00000349213:E828K;ENSP00000378307:E860K;ENSP00000296302:E860K;ENSP00000338302:E860K;ENSP00000386593:E860K;ENSP00000386529:E860K;ENSP00000386643:E875K;ENSP00000386601:E875K;ENSP00000387775:E860K;ENSP00000397662:E819K	ENSP00000296302:E860K	E	-	1	0	PBRM1	52612778	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.750000	0.85110	2.850000	0.98022	0.650000	0.86243	GAA		0.323	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PBRM1	55193	broad.mit.edu;ucsc.edu	37	3	52637740	52637740	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr3:52637740G>T	ENST00000296302.7	-	17	2577	c.2576C>A	c.(2575-2577)tCa>tAa	p.S859*	PBRM1_ENST00000409114.3_Nonsense_Mutation_p.S874*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.S859*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.S859*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.S874*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.S859*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.S859*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.S827*			Q86U86	PB1_HUMAN	polybromo 1	859	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.S859*(2)|p.S827*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATATATTTCTGAATCTGTCCT	0.323			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											45.0	43.0	44.0					3																	52637740		2203	4296	6499	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.2576C>A	3.37:g.52637740G>T	ENSP00000296302:p.Ser859*	Somatic		WXS	Illumina GAIIx	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	41	8.897938	0.98994	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6319	20.2504	0.98404	0.0:0.0:1.0:0.0	.	.	.	.	X	827;859;859;859;859;859;874;874;859;818	.	ENSP00000296302:S859X	S	-	2	0	PBRM1	52612780	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.779000	0.99018	2.850000	0.98022	0.650000	0.86243	TCA		0.323	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PIGG	54872	broad.mit.edu;ucsc.edu	37	4	520921	520921	+	Silent	SNP	G	G	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr4:520921G>A	ENST00000453061.2	+	10	2269	c.2163G>A	c.(2161-2163)aaG>aaA	p.K721K	PIGG_ENST00000383028.4_Silent_p.K588K|PIGG_ENST00000504346.1_Silent_p.K632K|PIGG_ENST00000310340.5_Silent_p.K713K|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	721					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)	p.K713K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CTGTGTCCAAGGCTGCCCTGG	0.637																																																	1	Substitution - coding silent(1)	kidney(1)											46.0	40.0	42.0					4																	520921		2203	4300	6503	SO:0001819	synonymous_variant	54872				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2163G>A	4.37:g.520921G>A		Somatic		WXS	Illumina GAIIx	Phase_I	B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Silent	SNP	ENST00000453061.2	37	CCDS46992.1																																																																																				0.637	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1		NM_017733	
PLEKHA5	54477	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	19514587	19514587	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr12:19514587A>T	ENST00000299275.6	+	23	3063	c.3057A>T	c.(3055-3057)gaA>gaT	p.E1019D	PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E1077D|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.E1077D|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E963D|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E1082D|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E1001D|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E777D|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E1185D|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E1008D	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	1019					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.E1180D(1)|p.E1019D(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATTCTGTGGAAATGATGGATA	0.284																																					Pancreas(196;329 2193 11246 14234 19524)												2	Substitution - Missense(2)	kidney(2)											67.0	71.0	69.0					12																	19514587		2203	4300	6503	SO:0001583	missense	54477			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.3057A>T	12.37:g.19514587A>T	ENSP00000299275:p.Glu1019Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.702417	0.48307	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.11712	2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.75;2.95	4.37	4.37	0.52481	.	0.057597	0.64402	D	0.000002	T	0.18882	0.0453	L	0.29908	0.895	0.28548	N	0.911759	D;B;B;B;D;B;B;B	0.67145	0.979;0.007;0.004;0.189;0.996;0.007;0.0;0.003	P;B;B;B;D;B;B;B	0.72625	0.789;0.008;0.004;0.142;0.978;0.006;0.001;0.009	T	0.01464	-1.1348	10	0.52906	T	0.07	-12.0557	10.1805	0.42965	1.0:0.0:0.0:0.0	.	1082;1001;1008;1180;963;1185;1019;1077	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	D	1082;1077;963;1181;1185;1019;777;1077;1008;1001;974;300	ENSP00000325155:E1082D;ENSP00000347560:E1077D;ENSP00000352104:E963D;ENSP00000404296:E1185D;ENSP00000299275:E1019D;ENSP00000440611:E777D;ENSP00000439673:E1077D;ENSP00000400411:E1008D;ENSP00000439837:E1001D;ENSP00000440371:E974D;ENSP00000443553:E300D	ENSP00000299275:E1019D	E	+	3	2	PLEKHA5	19405854	0.145000	0.22656	0.888000	0.34837	0.841000	0.47740	0.234000	0.17930	1.949000	0.56562	0.378000	0.23410	GAA		0.284	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1		NM_019012	
PROKR2	128674	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	5294646	5294646	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr20:5294646C>A	ENST00000217270.3	-	1	369	c.370G>T	c.(370-372)Ggc>Tgc	p.G124C	PROKR2_ENST00000546004.1_Missense_Mutation_p.G124C	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	124					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.G124C(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGCACGTGGCCATGCTCCCAG	0.597										HNSCC(71;0.22)																																							1	Substitution - Missense(1)	kidney(1)											129.0	96.0	107.0					20																	5294646		2203	4300	6503	SO:0001583	missense	128674			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.370G>T	20.37:g.5294646C>A	ENSP00000217270:p.Gly124Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605198	0.87157	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.51325	0.71;0.71	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.100986	0.64402	D	0.000002	T	0.76083	0.3938	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82536	-0.0408	10	0.87932	D	0	.	16.398	0.83630	0.0:1.0:0.0:0.0	.	124	Q8NFJ6	PKR2_HUMAN	C	124	ENSP00000440790:G124C;ENSP00000217270:G124C	ENSP00000217270:G124C	G	-	1	0	PROKR2	5242646	1.000000	0.71417	0.981000	0.43875	0.977000	0.68977	7.740000	0.84986	2.525000	0.85131	0.643000	0.83706	GGC		0.597	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1		NM_144773	
PTDSS1	9791	broad.mit.edu;ucsc.edu	37	8	97316399	97316399	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr8:97316399T>A	ENST00000517309.1	+	7	1210	c.884T>A	c.(883-885)aTc>aAc	p.I295N	PTDSS1_ENST00000455950.2_Missense_Mutation_p.I149N|PTDSS1_ENST00000522072.1_Missense_Mutation_p.I92N	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	295					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.I295N(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CTTTTCATGATCATCTGGCAG	0.383																																																	1	Substitution - Missense(1)	kidney(1)											164.0	166.0	165.0					8																	97316399		2203	4300	6503	SO:0001583	missense	9791			D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.884T>A	8.37:g.97316399T>A	ENSP00000430548:p.Ile295Asn	Somatic		WXS	Illumina GAIIx	Phase_I	E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.711593	0.89112	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.50813	0.76;0.77;0.73	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.66356	0.2781	M	0.72894	2.215	0.80722	D	1	D	0.58970	0.984	D	0.65140	0.932	T	0.69450	-0.5142	10	0.66056	D	0.02	-33.3483	14.741	0.69455	0.0:0.0:0.0:1.0	.	295	P48651	PTSS1_HUMAN	N	295;149;92	ENSP00000430548:I295N;ENSP00000401248:I149N;ENSP00000430928:I92N	ENSP00000401248:I149N	I	+	2	0	PTDSS1	97385575	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.003000	0.88520	2.217000	0.71921	0.533000	0.62120	ATC		0.383	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			
PTPLB	201562	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	123301066	123301066	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr3:123301066A>G	ENST00000383657.5	-	2	423	c.266T>C	c.(265-267)tTa>tCa	p.L89S		NM_198402.3	NP_940684.1	Q6Y1H2	HACD2_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b	89					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)	p.L89S(1)		kidney(2)	2				GBM - Glioblastoma multiforme(114;0.1)		TACCTCCAATAAGGCTCCAGT	0.383																																																	1	Substitution - Missense(1)	kidney(1)											43.0	39.0	40.0					3																	123301066		1818	4076	5894	SO:0001583	missense	201562			AK074605	CCDS46895.1	3q21.1	2010-04-30			ENSG00000206527	ENSG00000206527			9640	protein-coding gene	gene with protein product		615939				15024066	Standard	NM_198402		Approved		uc003egj.2	Q6Y1H2	OTTHUMG00000159529	ENST00000383657.5:c.266T>C	3.37:g.123301066A>G	ENSP00000373153:p.Leu89Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000383657.5	37	CCDS46895.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336689	0.60963	.	.	ENSG00000206527	ENST00000383657	T	0.32515	1.45	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000002	T	0.38214	0.1032	M	0.69185	2.1	0.80722	D	1	B	0.29212	0.237	B	0.35114	0.196	T	0.34279	-0.9835	10	0.59425	D	0.04	-10.0674	14.8272	0.70122	1.0:0.0:0.0:0.0	.	89	Q6Y1H2	HACD2_HUMAN	S	89	ENSP00000373153:L89S	ENSP00000373153:L89S	L	-	2	0	PTPLB	124783756	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.688000	0.91260	2.091000	0.63221	0.533000	0.62120	TTA		0.383	PTPLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356021.3		NM_198402	
R3HDM1	23518	broad.mit.edu;hgsc.bcm.edu	37	2	136418887	136418888	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr2:136418887_136418888TC>AA	ENST00000264160.4	+	18	2341_2342	c.1971_1972TC>AA	c.(1969-1974)ccTCag>ccAAag	p.Q658K	R3HDM1_ENST00000329971.3_Missense_Mutation_p.Q529K|R3HDM1_ENST00000409478.1_Missense_Mutation_p.Q530K|R3HDM1_ENST00000410054.1_Missense_Mutation_p.Q603K|R3HDM1_ENST00000409606.1_Missense_Mutation_p.Q659K	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	658							poly(A) RNA binding (GO:0044822)	p.Q658K(1)|p.P657P(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCAGCCAACCTCAGTATCGCCC	0.436																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	23518			D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	Exception_encountered	2.37:g.136418887_136418888delinsAA	ENSP00000264160:p.Gln658Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Silent|Missense_Mutation	SNP	ENST00000264160.4	37	CCDS2177.1																																																																																				0.436	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1		NM_015361	
RYR2	6262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	237947723	237947723	+	Silent	SNP	C	C	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr1:237947723C>T	ENST00000366574.2	+	90	13028	c.12711C>T	c.(12709-12711)tcC>tcT	p.S4237S	RYR2_ENST00000542537.1_Silent_p.S4221S|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.S4243S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4237					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.S4235S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTTCTTCTCCATTCTGACGG	0.522																																																	1	Substitution - coding silent(1)	kidney(1)											56.0	62.0	60.0					1																	237947723		1969	4146	6115	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12711C>T	1.37:g.237947723C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035	
SEPT11	55752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	77949832	77949832	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr4:77949832A>G	ENST00000264893.6	+	8	1205	c.1004A>G	c.(1003-1005)cAg>cGg	p.Q335R	SEPT11_ENST00000505788.1_Missense_Mutation_p.Q335R|SEPT11_ENST00000502584.1_Missense_Mutation_p.Q335R|SEPT11_ENST00000541121.1_Missense_Mutation_p.Q345R|SEPT11_ENST00000510515.1_Missense_Mutation_p.Q345R|SEPT11_ENST00000512575.1_3'UTR	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	335					cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)	p.Q335R(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						GGAGAACTGCAGAAGAAAGAA	0.393																																																	1	Substitution - Missense(1)	kidney(1)											87.0	90.0	89.0					4																	77949832		2203	4300	6503	SO:0001583	missense	55752			AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"""Septins"""	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.1004A>G	4.37:g.77949832A>G	ENSP00000264893:p.Gln335Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Missense_Mutation	SNP	ENST00000264893.6	37	CCDS34018.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.4|22.4	4.289441|4.289441	0.80914|0.80914	.|.	.|.	ENSG00000138758|ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000541121|ENST00000506731	D;D;D;D;D;D|.	0.83075|.	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.74772|0.74772	0.3760|0.3760	M|M	0.71581|0.71581	2.175|2.175	0.53688|0.53688	D|D	0.999975|0.999975	B;B|.	0.19331|.	0.035;0.021|.	B;B|.	0.29663|.	0.105;0.049|.	T|T	0.74176|0.74176	-0.3750|-0.3750	10|5	0.51188|.	T|.	0.08|.	.|.	16.5763|16.5763	0.84648|0.84648	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	345;335|.	Q9NVA2-2;Q9NVA2|.	.;SEP11_HUMAN|.	R|G	335;335;327;335;345;345|64	ENSP00000264893:Q335R;ENSP00000426344:Q335R;ENSP00000420839:Q327R;ENSP00000424925:Q335R;ENSP00000422896:Q345R;ENSP00000443701:Q345R|.	ENSP00000264893:Q335R|.	Q|R	+|+	2|1	0|2	SEPT11|SEPT11	78168856|78168856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.832000|8.832000	0.92079|0.92079	2.317000|2.317000	0.78254|0.78254	0.459000|0.459000	0.35465|0.35465	CAG|AGA		0.393	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362676.1		NM_018243	
SLC16A9	220963	hgsc.bcm.edu	37	10	61412636	61412653	+	In_Frame_Del	DEL	CCTCCCAGCAGGACGCAG	CCTCCCAGCAGGACGCAG	-	rs200128557|rs76116242|rs576698927	byFrequency	TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	CCTCCCAGCAGGACGCAG	CCTCCCAGCAGGACGCAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr10:61412636_61412653delCCTCCCAGCAGGACGCAG	ENST00000395348.3	-	6	2043_2060	c.1407_1424delCTGCGTCCTGCTGGGAGG	c.(1405-1425)ttctgcgtcctgctgggaggt>ttt	p.CVLLGG470del	SLC16A9_ENST00000395347.1_In_Frame_Del_p.CVLLGG470del	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	470					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CAGAATAAAACCTCCCAGCAGGACGCAGAAGCCACTAA	0.427																																																	0										11,4253		0,11,2121						-11.1	0.0			77	30,8224		0,30,4097	no	coding	SLC16A9	NM_194298.2		0,41,6218	A1A1,A1R,RR		0.3635,0.258,0.3275				41,12477				SO:0001651	inframe_deletion	220963			AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.1407_1424delCTGCGTCCTGCTGGGAGG	10.37:g.61412636_61412653delCCTCCCAGCAGGACGCAG	ENSP00000378757:p.Cys470_Gly475del	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZMI2|Q9UFH8	In_Frame_Del	DEL	ENST00000395348.3	37	CCDS7256.1																																																																																				0.427	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2		NM_194298	
SLC5A3	6526	hgsc.bcm.edu;ucsc.edu	37	21	35468377	35468377	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr21:35468377delC	ENST00000381151.3	+	2	1392	c.880delC	c.(880-882)catfs	p.H294fs	AP000320.7_ENST00000362077.4_RNA|SLC5A3_ENST00000608209.1_Frame_Shift_Del_p.H294fs|MRPS6_ENST00000399312.2_Intron			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	294					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						AAACATTGCTCATGCCAAAGG	0.473																																																	0													100.0	99.0	100.0					21																	35468377		2203	4300	6503	SO:0001589	frameshift_variant	6526				CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.880delC	21.37:g.35468377delC	ENSP00000370543:p.His294fs	Somatic		WXS	Illumina HiSeq	Phase_I	O43489	Frame_Shift_Del	DEL	ENST00000381151.3	37	CCDS33549.1																																																																																				0.473	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			
SNCAIP	9627	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	121759046	121759046	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr5:121759046C>T	ENST00000261368.8	+	4	876	c.614C>T	c.(613-615)gCa>gTa	p.A205V	SNCAIP_ENST00000379536.2_Missense_Mutation_p.A205V|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.A252V|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000261367.7_Missense_Mutation_p.A252V|SNCAIP_ENST00000379533.2_Missense_Mutation_p.A252V|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379538.3_Intron	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	205					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.A252V(2)|p.A205V(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TCCAACATGGCACCATTTTGT	0.463																																																	3	Substitution - Missense(3)	kidney(3)											92.0	94.0	93.0					5																	121759046		2203	4300	6503	SO:0001583	missense	9627			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.614C>T	5.37:g.121759046C>T	ENSP00000261368:p.Ala205Val	Somatic		WXS	Illumina HiSeq	Phase_I	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784637	0.49997	.	.	ENSG00000064692	ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000261367;ENST00000503116	T;T;T;T;T;T	0.12879	4.96;2.68;2.64;4.96;2.64;4.43	5.88	5.88	0.94601	.	0.414945	0.29699	N	0.011427	T	0.09291	0.0229	N	0.14661	0.345	0.58432	D	0.999998	B;B;B;B	0.31274	0.055;0.317;0.073;0.044	B;B;B;B	0.30572	0.02;0.117;0.053;0.014	T	0.37502	-0.9703	9	.	.	.	-2.9168	15.3324	0.74223	0.0:0.9317:0.0:0.0683	.	205;252;252;205	D6R9G8;Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;.;SNCAP_HUMAN	V	205;205;252;205;252;252	ENSP00000422106:A205V;ENSP00000261368:A205V;ENSP00000368848:A252V;ENSP00000368851:A205V;ENSP00000261367:A252V;ENSP00000423199:A252V	.	A	+	2	0	SNCAIP	121786945	0.541000	0.26417	0.014000	0.15608	0.927000	0.56198	3.321000	0.51999	2.797000	0.96272	0.561000	0.74099	GCA		0.463	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			
SORT1	6272	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	109884661	109884661	+	Silent	SNP	T	T	C			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr1:109884661T>C	ENST00000256637.6	-	9	1141	c.1083A>G	c.(1081-1083)gtA>gtG	p.V361V	SORT1_ENST00000538502.1_Silent_p.V224V	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	361					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)	p.V361V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CATGCATGAATACCATGTCAT	0.443																																																	1	Substitution - coding silent(1)	kidney(1)											155.0	141.0	145.0					1																	109884661		2203	4300	6503	SO:0001819	synonymous_variant	6272			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1083A>G	1.37:g.109884661T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B4DWI3|C0JYZ0|Q8IZ49	Silent	SNP	ENST00000256637.6	37	CCDS798.1																																																																																				0.443	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1		NM_002959	
SOX30	11063	broad.mit.edu;hgsc.bcm.edu	37	5	157078237	157078237	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr5:157078237T>C	ENST00000265007.6	-	1	1191	c.850A>G	c.(850-852)Ata>Gta	p.I284V	SOX30_ENST00000311371.5_Missense_Mutation_p.I284V|SOX30_ENST00000519442.1_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	284					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.I284V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCAATCTTATCAGCTCTGAA	0.557																																					Esophageal Squamous(31;525 799 19355 21125 41744)												1	Substitution - Missense(1)	kidney(1)											77.0	86.0	83.0					5																	157078237		2203	4300	6503	SO:0001583	missense	11063			AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.850A>G	5.37:g.157078237T>C	ENSP00000265007:p.Ile284Val	Somatic		WXS	Illumina HiSeq	Phase_I	O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	37	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.849631	0.32699	.	.	ENSG00000039600	ENST00000311371;ENST00000265007	D;D	0.98207	-4.79;-4.39	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000007	D	0.96352	0.8810	L	0.32530	0.975	0.80722	D	1	B;P	0.41214	0.336;0.742	P;B	0.44447	0.45;0.313	D	0.96769	0.9567	10	0.87932	D	0	.	12.8364	0.57775	0.0:0.0:0.0:1.0	.	284;284	O94993-2;O94993	.;SOX30_HUMAN	V	284	ENSP00000309343:I284V;ENSP00000265007:I284V	ENSP00000265007:I284V	I	-	1	0	SOX30	157010815	1.000000	0.71417	0.999000	0.59377	0.083000	0.17756	1.443000	0.35057	1.960000	0.56953	0.377000	0.23210	ATA		0.557	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2		NM_007017	
SRCAP	10847	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30747584	30747584	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr16:30747584G>T	ENST00000262518.4	+	32	7178	c.6793G>T	c.(6793-6795)Gtg>Ttg	p.V2265L	SRCAP_ENST00000344771.4_Missense_Mutation_p.V2107L|SRCAP_ENST00000395059.2_Missense_Mutation_p.V2203L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2265	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.V2265L(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGCTGAACAGGTGGCTGAGCT	0.542																																																	1	Substitution - Missense(1)	kidney(1)											81.0	78.0	79.0					16																	30747584		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6793G>T	16.37:g.30747584G>T	ENSP00000262518:p.Val2265Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544840	0.65198	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91464	-2.83;-2.85;-2.84	5.23	5.23	0.72850	.	0.298348	0.24037	N	0.042131	D	0.93259	0.7852	L	0.46157	1.445	0.44871	D	0.997886	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.987	D	0.91352	0.5105	10	0.29301	T	0.29	-11.6222	17.7328	0.88383	0.0:0.0:1.0:0.0	.	2203;2265	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	L	2265;2203;2107	ENSP00000262518:V2265L;ENSP00000378499:V2203L;ENSP00000343042:V2107L	ENSP00000262518:V2265L	V	+	1	0	SRCAP	30655085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.118000	0.94355	2.714000	0.92807	0.563000	0.77884	GTG		0.542	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1		NM_006662	
SS18	6760	hgsc.bcm.edu;ucsc.edu	37	18	23632629	23632629	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr18:23632629delT	ENST00000415083.2	-	5	621	c.566delA	c.(565-567)aacfs	p.N189fs	SS18_ENST00000269137.7_Frame_Shift_Del_p.N189fs|SS18_ENST00000585241.1_5'UTR|SS18_ENST00000542743.1_Frame_Shift_Del_p.N137fs|SS18_ENST00000542420.2_Frame_Shift_Del_p.N166fs|SS18_ENST00000539849.1_Frame_Shift_Del_p.N107fs|SS18_ENST00000545952.1_Frame_Shift_Del_p.N137fs	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	189	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GGGACCATAGTTTCCCATTGG	0.433			T	"""SSX1,  SSX2"""	synovial sarcoma																																			Dom	yes		18	18q11.2	6760	"""synovial sarcoma translocation, chromosome 18"""		M	0													296.0	249.0	265.0					18																	23632629		2203	4300	6503	SO:0001589	frameshift_variant	6760			X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.566delA	18.37:g.23632629delT	ENSP00000414516:p.Asn189fs	Somatic		WXS	Illumina HiSeq	Phase_I	B0YJ95|Q16404|Q4VAX1|Q9BXC6	Frame_Shift_Del	DEL	ENST00000415083.2	37	CCDS32807.1																																																																																				0.433	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1			
ST8SIA3	51046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	55027490	55027490	+	Silent	SNP	T	T	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr18:55027490T>A	ENST00000324000.3	+	4	3159	c.1125T>A	c.(1123-1125)acT>acA	p.T375T		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	375					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|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)	p.T375T(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CCAAGCTGACTCTGTCACACT	0.488																																																	1	Substitution - coding silent(1)	kidney(1)											49.0	42.0	44.0					18																	55027490		2203	4300	6503	SO:0001819	synonymous_variant	51046			AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.1125T>A	18.37:g.55027490T>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K0F2|Q6B085|Q9NS41	Silent	SNP	ENST00000324000.3	37	CCDS32834.1																																																																																				0.488	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1		NM_015879	
TBC1D8	11138	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	101624288	101624288	+	Missense_Mutation	SNP	A	A	T	rs576024231		TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr2:101624288A>T	ENST00000376840.4	-	20	3417	c.3418T>A	c.(3418-3420)Ttg>Atg	p.L1140M	RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409028.4_Intron|RPL31_ENST00000409038.1_Intron|TBC1D8_ENST00000409318.1_Missense_Mutation_p.L1155M			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	1140					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.L1140M(1)|p.L1155M(1)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TCTTGCTACAAGTTACTCAGC	0.428																																																	2	Substitution - Missense(2)	kidney(2)											176.0	184.0	181.0					2																	101624288		2001	4178	6179	SO:0001583	missense	11138			AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.3418T>A	2.37:g.101624288A>T	ENSP00000366036:p.Leu1140Met	Somatic		WXS	Illumina HiSeq	Phase_I	A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	A	1.162	-0.643459	0.03531	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03496	3.92;3.91	4.71	1.78	0.24846	.	0.336290	0.21172	N	0.078973	T	0.01661	0.0053	N	0.08118	0	0.09310	N	1	B	0.28512	0.214	B	0.28011	0.085	T	0.46470	-0.9189	10	0.20519	T	0.43	.	2.5605	0.04771	0.1168:0.1402:0.5367:0.2063	.	1140	O95759	TBCD8_HUMAN	M	1140;1155	ENSP00000366036:L1140M;ENSP00000386856:L1155M	ENSP00000366036:L1140M	L	-	1	2	TBC1D8	100990720	0.000000	0.05858	0.076000	0.20297	0.086000	0.17979	-0.129000	0.10515	0.146000	0.19002	-0.250000	0.11733	TTG		0.428	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1		NM_007063	
TCP11L1	55346	hgsc.bcm.edu;ucsc.edu	37	11	33065367	33065367	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr11:33065367delA	ENST00000334274.4	+	2	448	c.48delA	c.(46-48)tcafs	p.S16fs	TCP11L1_ENST00000531632.2_Frame_Shift_Del_p.S16fs|TCP11L1_ENST00000432887.1_Frame_Shift_Del_p.S16fs|TCP11L1_ENST00000530171.1_3'UTR	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	16						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						CAGGAAAATCAAAATCCAATG	0.378																																																	0													179.0	186.0	184.0					11																	33065367		2202	4298	6500	SO:0001589	frameshift_variant	55346			BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 1"""				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.48delA	11.37:g.33065367delA	ENSP00000335595:p.Ser16fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DR01|Q8IVX4	Frame_Shift_Del	DEL	ENST00000334274.4	37	CCDS7882.1																																																																																				0.378	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4		NM_018393	
TDRD7	23424	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	100234634	100234635	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr9:100234634_100234635GG>CT	ENST00000355295.4	+	10	2096_2097	c.1801_1802GG>CT	c.(1801-1803)GGa>CTa	p.G601L	TDRD7_ENST00000540902.1_5'UTR|TDRD7_ENST00000422139.2_Missense_Mutation_p.G527L	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	601					germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)	p.G601V(1)|p.G601R(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TTTAACTTGTGGAAAGATCTTT	0.371																																																	2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	23424			AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	Exception_encountered	9.37:g.100234634_100234635delinsCT	ENSP00000347444:p.Gly601Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	CCDS6725.1																																																																																				0.371	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1		NM_014290	
TMEM145	284339	broad.mit.edu;ucsc.edu	37	19	42821063	42821063	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr19:42821063A>C	ENST00000301204.3	+	11	889	c.848A>C	c.(847-849)tAc>tCc	p.Y283S	TMEM145_ENST00000598766.1_Missense_Mutation_p.Y307S	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	283					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)		p.Y283S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TTGTCTGTCTACATGACCCTG	0.657																																																	1	Substitution - Missense(1)	kidney(1)											56.0	45.0	49.0					19																	42821063		2203	4300	6503	SO:0001583	missense	284339			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.848A>C	19.37:g.42821063A>C	ENSP00000301204:p.Tyr283Ser	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000301204.3	37	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.750389	0.49257	.	.	ENSG00000167619	ENST00000301204	T	0.42900	0.96	3.98	3.98	0.46160	Rhodopsin-like GPCR transmembrane domain (1);	0.191120	0.36591	N	0.002520	T	0.36386	0.0965	L	0.51422	1.61	0.58432	D	0.999997	B	0.17038	0.02	B	0.17433	0.018	T	0.19418	-1.0306	10	0.37606	T	0.19	-18.5865	11.1366	0.48378	1.0:0.0:0.0:0.0	.	283	Q8NBT3	TM145_HUMAN	S	283	ENSP00000301204:Y283S	ENSP00000301204:Y283S	Y	+	2	0	TMEM145	47512903	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.387000	0.79785	1.574000	0.49760	0.416000	0.27883	TAC		0.657	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1		NM_173633	
TMEM232	642987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	109940964	109940964	+	Silent	SNP	A	A	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr5:109940964A>T	ENST00000455884.2	-	10	1172	c.1122T>A	c.(1120-1122)acT>acA	p.T374T	TMEM232_ENST00000515518.2_5'UTR|TMEM232_ENST00000429839.2_Silent_p.T374T			C9JQI7	TM232_HUMAN	transmembrane protein 232	374						integral component of membrane (GO:0016021)		p.T374T(2)		breast(1)|kidney(2)	3						GCAAATCAGAAGTGGCTGCAT	0.353																																																	2	Substitution - coding silent(2)	kidney(2)											63.0	55.0	57.0					5																	109940964		692	1590	2282	SO:0001819	synonymous_variant	642987			AK125070	CCDS47253.1, CCDS47253.2	5q22.1	2014-02-12	2009-10-02		ENSG00000186952	ENSG00000186952			37270	protein-coding gene	gene with protein product							Standard	NM_001039763		Approved	FLJ43080	uc011cvh.2	C9JQI7	OTTHUMG00000163297	ENST00000455884.2:c.1122T>A	5.37:g.109940964A>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DKF4	Silent	SNP	ENST00000455884.2	37	CCDS47253.2																																																																																				0.353	TMEM232-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372488.2		NM_001039763	
TOPORS	10210	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	32543675	32543675	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr9:32543675G>A	ENST00000360538.2	-	3	964	c.848C>T	c.(847-849)gCt>gTt	p.A283V	TOPORS_ENST00000379858.1_Missense_Mutation_p.A218V	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	283	Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A283V(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		GAAAAATTCAGCTGAAATATC	0.383																																																	1	Substitution - Missense(1)	kidney(1)											59.0	63.0	62.0					9																	32543675		2203	4300	6503	SO:0001583	missense	10210			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.848C>T	9.37:g.32543675G>A	ENSP00000353735:p.Ala283Val	Somatic		WXS	Illumina HiSeq	Phase_I	O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430283	0.62844	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.24350	1.86;1.9	5.93	5.93	0.95920	.	0.000000	0.50627	D	0.000118	T	0.52025	0.1709	M	0.72894	2.215	0.58432	D	0.999999	D	0.89917	1.0	D	0.69654	0.965	T	0.46219	-0.9207	10	0.54805	T	0.06	-37.1905	19.1082	0.93305	0.0:0.0:1.0:0.0	.	283	Q9NS56	TOPRS_HUMAN	V	283;218	ENSP00000353735:A283V;ENSP00000369187:A218V	ENSP00000353735:A283V	A	-	2	0	TOPORS	32533675	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	9.439000	0.97543	2.805000	0.96524	0.655000	0.94253	GCT		0.383	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1		NM_005802	
TNC	3371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	117840320	117840320	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr9:117840320G>T	ENST00000350763.4	-	7	2987	c.2576C>A	c.(2575-2577)tCc>tAc	p.S859Y	TNC_ENST00000345230.3_Missense_Mutation_p.S859Y|TNC_ENST00000340094.3_Missense_Mutation_p.S859Y|TNC_ENST00000537320.1_Missense_Mutation_p.S859Y|TNC_ENST00000535648.1_Missense_Mutation_p.S859Y|TNC_ENST00000542877.1_Missense_Mutation_p.S859Y|TNC_ENST00000423613.2_Missense_Mutation_p.S859Y|TNC_ENST00000346706.3_Missense_Mutation_p.S859Y|TNC_ENST00000341037.4_Missense_Mutation_p.S859Y	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	859	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.S859Y(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTTCCCGATGGAGTACTGGTT	0.557																																																	1	Substitution - Missense(1)	kidney(1)											238.0	166.0	190.0					9																	117840320		2203	4300	6503	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2576C>A	9.37:g.117840320G>T	ENSP00000265131:p.Ser859Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793108	0.70452	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.48	3.64	0.41730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.476291	0.25975	N	0.027109	T	0.70675	0.3251	M	0.78801	2.425	0.50813	D	0.999898	D;D	0.71674	0.998;0.998	D;D	0.79108	0.989;0.992	T	0.71623	-0.4537	10	0.48119	T	0.1	.	12.7824	0.57485	0.0:0.1253:0.7441:0.1306	.	859;859	E9PC84;P24821	.;TENA_HUMAN	Y	859	ENSP00000344400:S859Y;ENSP00000438152:S859Y;ENSP00000344555:S859Y;ENSP00000345861:S859Y;ENSP00000265131:S859Y;ENSP00000339553:S859Y;ENSP00000411406:S859Y;ENSP00000443478:S859Y;ENSP00000442242:S859Y	ENSP00000344400:S859Y	S	-	2	0	TNC	116880141	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.738000	0.38207	0.794000	0.33899	0.655000	0.94253	TCC		0.557	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2		NM_002160	
TTN	7273	hgsc.bcm.edu;ucsc.edu	37	2	179438104	179438111	+	Frame_Shift_Del	DEL	CTTCCACC	CTTCCACC	-			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	CTTCCACC	CTTCCACC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr2:179438104_179438111delCTTCCACC	ENST00000591111.1	-	276	68049_68056	c.67825_67832delGGTGGAAG	c.(67825-67833)ggtggaagtfs	p.GGS22609fs	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.GGS15377fs|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.GGS24250fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.GGS21682fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.GGS15310fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.GGS15185fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22609	Fibronectin type-III 64. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGATTTCACTTCCACCATCAGAATCA	0.409																																																	0																																										SO:0001589	frameshift_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.67825_67832delGGTGGAAG	2.37:g.179438104_179438111delCTTCCACC	ENSP00000465570:p.Gly22609fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37																																																																																					0.409	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TTN	7273	hgsc.bcm.edu;ucsc.edu	37	2	179472591	179472591	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr2:179472591delT	ENST00000591111.1	-	226	48224	c.48000delA	c.(47998-48000)aaafs	p.K16000fs	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.K8768fs|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.K17641fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.K15073fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.K8701fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.K8576fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16000	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACCCGAAGTTTGTAATCAG	0.493																																																	0													124.0	121.0	122.0					2																	179472591		1987	4155	6142	SO:0001589	frameshift_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48000delA	2.37:g.179472591delT	ENSP00000465570:p.Lys16000fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37																																																																																					0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TUBBP5	643224	broad.mit.edu	37	9	141071484	141071484	+	RNA	SNP	T	T	C			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr9:141071484T>C	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5									p.I368T(1)									GCCAGCTTCATTGGGAATAAT	0.527																																																	1	Substitution - Missense(1)	kidney(1)																																										643224			AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141071484T>C		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000503395.1	37																																																																																					0.527	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1		NR_027156	
UBR1	197131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43360146	43360146	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr15:43360146C>T	ENST00000290650.4	-	6	826	c.748G>A	c.(748-750)Gac>Aac	p.D250N	UBR1_ENST00000382177.2_Missense_Mutation_p.D250N	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	250					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D250N(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGCTCACAGTCAAGAGCTCTT	0.423																																																	1	Substitution - Missense(1)	kidney(1)											121.0	112.0	115.0					15																	43360146		2203	4299	6502	SO:0001583	missense	197131				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.748G>A	15.37:g.43360146C>T	ENSP00000290650:p.Asp250Asn	Somatic		WXS	Illumina HiSeq	Phase_I	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	8.571	0.880036	0.17467	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.69926	0.39;-0.44	5.73	4.62	0.57501	Adaptor protein ClpS, core (1);Ribosomal protein L7/L12, C-terminal/adaptor protein ClpS-like (2);	0.268407	0.43260	D	0.000592	T	0.36468	0.0968	N	0.01729	-0.75	0.30055	N	0.811435	B;B	0.12013	0.002;0.005	B;B	0.11329	0.006;0.004	T	0.08743	-1.0707	10	0.05351	T	0.99	-4.8412	15.6135	0.76748	0.0:0.9232:0.0:0.0768	.	250;250	B4DYL2;Q8IWV7	.;UBR1_HUMAN	N	250	ENSP00000290650:D250N;ENSP00000371612:D250N	ENSP00000290650:D250N	D	-	1	0	UBR1	41147438	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.882000	0.48546	2.688000	0.91661	0.650000	0.86243	GAC		0.423	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1		NM_174916	
UTP14A	10813	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	129045756	129045756	+	Silent	SNP	A	A	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chrX:129045756A>T	ENST00000394422.3	+	6	424	c.396A>T	c.(394-396)gtA>gtT	p.V132V	UTP14A_ENST00000425117.2_Intron|UTP14A_ENST00000371042.3_5'Flank|UTP14A_ENST00000371051.5_Silent_p.V78V|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	132					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.V132V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						ACAGAGAAGTAGCATTCAATA	0.478																																																	1	Substitution - coding silent(1)	kidney(1)											139.0	132.0	134.0					X																	129045756		2203	4300	6503	SO:0001819	synonymous_variant	10813			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.396A>T	X.37:g.129045756A>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Silent	SNP	ENST00000394422.3	37	CCDS14615.1																																																																																				0.478	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1		NM_006649	
VEGFA	7422	broad.mit.edu	37	6	43742101	43742101	+	Silent	SNP	A	A	G			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr6:43742101A>G	ENST00000523873.1	+	2	128	c.90A>G	c.(88-90)gcA>gcG	p.A30A	VEGFA_ENST00000372077.4_Silent_p.A30A|VEGFA_ENST00000417285.2_Silent_p.A210A|VEGFA_ENST00000372055.4_Silent_p.A210A|VEGFA_ENST00000324450.6_Silent_p.A210A|VEGFA_ENST00000413642.3_Silent_p.A210A|VEGFA_ENST00000518824.1_Silent_p.A30A|VEGFA_ENST00000523125.1_Silent_p.A30A|VEGFA_ENST00000482630.2_Silent_p.A210A|VEGFA_ENST00000457104.2_Silent_p.A30A|VEGFA_ENST00000372067.3_Silent_p.A210A|VEGFA_ENST00000518689.1_Silent_p.A30A|VEGFA_ENST00000523950.1_Silent_p.A30A|VEGFA_ENST00000230480.6_Silent_p.A2A|VEGFA_ENST00000520948.1_Silent_p.A30A|VEGFA_ENST00000372064.4_Silent_p.A210A|VEGFA_ENST00000425836.2_Silent_p.A210A			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	30					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|basophil chemotaxis (GO:0002575)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|camera-type eye morphogenesis (GO:0048593)|cardiac muscle fiber development (GO:0048739)|cardiac vascular smooth muscle cell development (GO:0060948)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to hypoxia (GO:0071456)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|dopaminergic neuron differentiation (GO:0071542)|endothelial cell chemotaxis (GO:0035767)|epithelial cell differentiation (GO:0030855)|eye photoreceptor cell development (GO:0042462)|growth (GO:0040007)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|induction of positive chemotaxis (GO:0050930)|kidney development (GO:0001822)|lactation (GO:0007595)|lung development (GO:0030324)|lymph vessel morphogenesis (GO:0036303)|macrophage differentiation (GO:0030225)|mammary gland alveolus development (GO:0060749)|mesoderm development (GO:0007498)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|outflow tract morphogenesis (GO:0003151)|ovarian follicle development (GO:0001541)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cellular component movement (GO:0051272)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein localization to early endosome (GO:1902966)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor internalization (GO:0002092)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular permeability (GO:0043117)|post-embryonic camera-type eye development (GO:0031077)|primitive erythrocyte differentiation (GO:0060319)|regulation of cell shape (GO:0008360)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)|surfactant homeostasis (GO:0043129)|tube formation (GO:0035148)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|VEGF-activated neuropilin signaling pathway (GO:0038190)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|neuropilin binding (GO:0038191)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor agonist activity (GO:0048018)|vascular endothelial growth factor receptor 1 binding (GO:0043183)|vascular endothelial growth factor receptor 2 binding (GO:0043184)|vascular endothelial growth factor receptor binding (GO:0005172)	p.A210A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Aflibercept(DB08885)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Dalteparin(DB06779)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Vandetanib(DB05294)	CACCCATGGCAGAAGGAGGAG	0.617											OREG0017458	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)											86.0	72.0	77.0					6																	43742101		2203	4300	6503	SO:0001819	synonymous_variant	7422			AB021221	CCDS34457.1, CCDS4907.2, CCDS34458.1, CCDS47432.1, CCDS47433.1, CCDS47434.1, CCDS47435.1, CCDS55007.1, CCDS55008.1, CCDS55009.1, CCDS55010.1, CCDS55011.1, CCDS55012.1, CCDS55013.1, CCDS55014.1, CCDS55015.1, CCDS69125.1	6p12	2008-02-05	2006-10-31	2006-10-31	ENSG00000112715	ENSG00000112715			12680	protein-coding gene	gene with protein product		192240	"""vascular endothelial growth factor"""	VEGF		8786112	Standard	NM_001025366		Approved	VEGF-A, VPF	uc003owh.3	P15692	OTTHUMG00000014745	ENST00000523873.1:c.90A>G	6.37:g.43742101A>G		Somatic	918	WXS	Illumina GAIIx	Phase_I	B5BU86|H0Y2S8|H0Y407|H0Y414|H0Y462|H0Y8N2|H3BLW7|O60720|O75875|Q074Z4|Q16889|Q5UB46|Q6P0P5|Q96KJ0|Q96L82|Q96NW5|Q9H1W8|Q9H1W9|Q9UH58|Q9UL23	Silent	SNP	ENST00000523873.1	37	CCDS55010.1	.	.	.	.	.	.	.	.	.	.	A	2.864	-0.235458	0.05983	.	.	ENSG00000112715	ENST00000519767	.	.	.	4.6	4.6	0.57074	.	.	.	.	.	T	0.49695	0.1572	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51340	-0.8718	4	.	.	.	-1.2834	10.3072	0.43687	1.0:0.0:0.0:0.0	.	.	.	.	G	182	.	.	R	+	1	2	VEGFA	43850079	0.971000	0.33674	0.975000	0.42487	0.011000	0.07611	0.724000	0.25954	1.935000	0.56089	0.459000	0.35465	AGA		0.617	VEGFA-021	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374460.1		NM_001025366	
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10191645	10191646	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr3:10191645_10191646insT	ENST00000256474.2	+	3	1478_1479	c.638_639insT	c.(637-642)gattgafs	p.*214fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Frame_Shift_Ins_p.*173fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	0					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.D213fs(1)|p.D213fs*>2(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)		CGGATGGGAGATTGAAGATTTC	0.455		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"""	2	Complex - frameshift(1)|Insertion - Frameshift(1)	kidney(2)																																								SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.640dupT	3.37:g.10191647_10191647dupT	ENSP00000256474:p.*214fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.455	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
ZNF536	9745	broad.mit.edu	37	19	30935867	30935867	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr19:30935867delG	ENST00000355537.3	+	2	1545	c.1398delG	c.(1396-1398)ctgfs	p.L466fs		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	466					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGGAAGCGCTGGGGAAGCTGC	0.647																																																	0													35.0	38.0	37.0					19																	30935867		2203	4300	6503	SO:0001589	frameshift_variant	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1398delG	19.37:g.30935867delG	ENSP00000347730:p.Leu466fs	Somatic		WXS	Illumina GAIIx	Phase_I	A2RU18	Frame_Shift_Del	DEL	ENST00000355537.3	37	CCDS32984.1																																																																																				0.647	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2		NM_014717	
