#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
ALAS1	211	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52246387	52246387	+	Silent	SNP	G	G	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr3:52246387G>A	ENST00000394965.2	+	11	2073	c.1713G>A	c.(1711-1713)cgG>cgA	p.R571R	ALAS1_ENST00000310271.2_Silent_p.R571R|ALAS1_ENST00000469224.1_Silent_p.R571R|ALAS1_ENST00000484952.1_Silent_p.R571R	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	571					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)	p.R571R(1)		endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	AGCTCCTACGGATTGCCCCCA	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											246.0	264.0	258.0					3																	52246387		2203	4300	6503	SO:0001819	synonymous_variant	211			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.1713G>A	3.37:g.52246387G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000394965.2	37	CCDS2847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.737|0.737	-0.777862|-0.777862	0.02929|0.02929	.|.	.|.	ENSG00000023330|ENSG00000023330	ENST00000459884|ENST00000493402	.|.	.|.	.|.	5.22|5.22	-3.61|-3.61	0.04556|0.04556	.|.	.|.	.|.	.|.	.|.	T|T	0.48409|0.48409	0.1498|0.1498	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.45629|0.45629	-0.9248|-0.9248	4|4	.|.	.|.	.|.	-14.652|-14.652	6.2506|6.2506	0.20843|0.20843	0.0687:0.4466:0.2387:0.246|0.0687:0.4466:0.2387:0.246	.|.	.|.	.|.	.|.	N|E	72|168	.|.	.|.	D|G	+|+	1|2	0|0	ALAS1|ALAS1	52221427|52221427	0.970000|0.970000	0.33590|0.33590	0.090000|0.090000	0.20809|0.20809	0.041000|0.041000	0.13682|0.13682	0.080000|0.080000	0.14802|0.14802	-0.364000|-0.364000	0.08088|0.08088	0.655000|0.655000	0.94253|0.94253	GAT|GGA		0.517	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			
ATP8A2	51761	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	26148985	26148985	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr13:26148985G>T	ENST00000381655.2	+	19	1844	c.1702G>T	c.(1702-1704)Gaa>Taa	p.E568*	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Nonsense_Mutation_p.E528*	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	528					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E568*(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TAATGTCCTGGAATTTTCTAG	0.323																																																	1	Substitution - Nonsense(1)	kidney(1)											121.0	114.0	116.0					13																	26148985		1805	4068	5873	SO:0001587	stop_gained	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1702G>T	13.37:g.26148985G>T	ENSP00000371070:p.Glu568*	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Nonsense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	43	10.375460	0.99393	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1327	0.93414	0.0:0.0:1.0:0.0	.	.	.	.	X	568;528;348	.	ENSP00000255283:E528X	E	+	1	0	ATP8A2	25046985	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.654000	0.83653	2.520000	0.84964	0.563000	0.77884	GAA		0.323	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2		NM_016529	
CH25H	9023	broad.mit.edu;ucsc.edu	37	10	90966990	90966990	+	Silent	SNP	C	C	T			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr10:90966990C>T	ENST00000371852.2	-	1	81	c.60G>A	c.(58-60)ctG>ctA	p.L20L		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	20					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholesterol 25-hydroxylase activity (GO:0001567)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)	p.L20L(1)		kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		AGAGGGGCTGCAGGAACAGCT	0.632																																																	1	Substitution - coding silent(1)	kidney(1)											18.0	22.0	21.0					10																	90966990		2201	4299	6500	SO:0001819	synonymous_variant	9023			AF059212	CCDS7400.1	10q23	2013-03-04			ENSG00000138135	ENSG00000138135	1.14.99.38	"""Fatty acid hydroxylase domain containing"""	1907	protein-coding gene	gene with protein product		604551				9852097	Standard	NM_003956		Approved		uc001kfz.3	O95992	OTTHUMG00000018705	ENST00000371852.2:c.60G>A	10.37:g.90966990C>T		Somatic		WXS	Illumina GAIIx	Phase_I	B2RBY3	Silent	SNP	ENST00000371852.2	37	CCDS7400.1																																																																																				0.632	CH25H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049291.1		NM_003956	
CHD3	1107	broad.mit.edu;hgsc.bcm.edu	37	17	7801818	7801818	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr17:7801818C>A	ENST00000330494.7	+	13	2206	c.2056C>A	c.(2056-2058)Cta>Ata	p.L686I	CHD3_ENST00000380358.4_Missense_Mutation_p.L745I|CHD3_ENST00000358181.4_Missense_Mutation_p.L686I	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	686					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L686I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TTCCAGAGAACTAATTATGGG	0.507																																																	1	Substitution - Missense(1)	kidney(1)											62.0	63.0	62.0					17																	7801818		2203	4300	6503	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2056C>A	17.37:g.7801818C>A	ENSP00000332628:p.Leu686Ile	Somatic		WXS	Illumina HiSeq	Phase_I	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037766	0.35989	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.90324	-2.65;-2.59;-2.59	4.84	2.85	0.33270	.	0.000000	0.35936	N	0.002892	D	0.84665	0.5522	L	0.47190	1.495	0.33217	D	0.554155	P;B;B	0.35872	0.525;0.39;0.39	B;B;B	0.32980	0.156;0.099;0.142	D	0.85916	0.1443	10	0.35671	T	0.21	-10.0689	9.7349	0.40382	0.0:0.8269:0.0:0.1731	.	686;686;745	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	I	745;686;686	ENSP00000369716:L745I;ENSP00000350907:L686I;ENSP00000332628:L686I	ENSP00000332628:L686I	L	+	1	2	CHD3	7742543	0.671000	0.27521	1.000000	0.80357	0.985000	0.73830	0.161000	0.16481	1.401000	0.46761	0.561000	0.74099	CTA		0.507	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1		NM_001005273	
CLIC6	54102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	36081084	36081084	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr21:36081084C>T	ENST00000360731.3	+	5	1751	c.1751C>T	c.(1750-1752)aCg>aTg	p.T584M	CLIC6_ENST00000349499.2_Missense_Mutation_p.T566M			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	584	GST C-terminal.					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)	p.T566M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						ATAAAAAACACGAAGAAGGAT	0.458																																																	1	Substitution - Missense(1)	kidney(1)											66.0	56.0	59.0					21																	36081084		2203	4300	6503	SO:0001583	missense	54102			AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.1751C>T	21.37:g.36081084C>T	ENSP00000353959:p.Thr584Met	Somatic		WXS	Illumina HiSeq	Phase_I	A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37		.	.	.	.	.	.	.	.	.	.	C	16.58	3.162252	0.57368	.	.	ENSG00000159212	ENST00000360731;ENST00000349499	D;D	0.94092	-3.35;-3.35	4.77	4.77	0.60923	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.109431	0.64402	D	0.000008	D	0.96706	0.8925	M	0.84683	2.71	0.47407	D	0.999416	D;D	0.89917	1.0;1.0	P;D	0.63793	0.879;0.918	D	0.97274	0.9913	10	0.87932	D	0	7.7685	18.3353	0.90286	0.0:1.0:0.0:0.0	.	584;566	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	M	584;566	ENSP00000353959:T584M;ENSP00000290332:T566M	ENSP00000290332:T566M	T	+	2	0	CLIC6	35002954	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	5.787000	0.69013	2.634000	0.89283	0.655000	0.94253	ACG		0.458	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			
CREB3L3	84699	hgsc.bcm.edu	37	19	4157198	4157199	+	Frame_Shift_Ins	INS	-	-	C	rs368390046		TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr19:4157198_4157199insC	ENST00000078445.2	+	3	510_511	c.363_364insC	c.(364-366)cccfs	p.P122fs	CREB3L3_ENST00000602257.1_Frame_Shift_Ins_p.P122fs|CREB3L3_ENST00000595923.1_Frame_Shift_Ins_p.P121fs|CREB3L3_ENST00000602147.1_Frame_Shift_Ins_p.P122fs|CREB3L3_ENST00000252587.3_Frame_Shift_Ins_p.P112fs	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	122					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGCAAGGGGCCCTGCCTCTC	0.653																																																	0																																										SO:0001589	frameshift_variant	84699				CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.366dupC	19.37:g.4157201_4157201dupC	ENSP00000078445:p.Pro122fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Frame_Shift_Ins	INS	ENST00000078445.2	37	CCDS12121.1																																																																																				0.653	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1		NM_032607	
CUL2	8453	broad.mit.edu;ucsc.edu	37	10	35299283	35299283	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr10:35299283C>T	ENST00000374748.1	-	22	2507	c.2194G>A	c.(2194-2196)Gaa>Aaa	p.E732K	CUL2_ENST00000602371.1_Missense_Mutation_p.E675K|CUL2_ENST00000374749.3_Missense_Mutation_p.E732K|CUL2_ENST00000374751.3_Missense_Mutation_p.E732K|CUL2_ENST00000374742.1_Missense_Mutation_p.E693K|CUL2_ENST00000537177.1_Missense_Mutation_p.E751K|CUL2_ENST00000374746.1_Missense_Mutation_p.E693K			Q13617	CUL2_HUMAN	cullin 2	732					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)	p.E732K(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TGGCTGCGTTCTATGTATTGT	0.463																																																	1	Substitution - Missense(1)	kidney(1)											148.0	124.0	132.0					10																	35299283		2203	4300	6503	SO:0001583	missense	8453			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.2194G>A	10.37:g.35299283C>T	ENSP00000363880:p.Glu732Lys	Somatic		WXS	Illumina GAIIx	Phase_I	B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	C	32	5.116989	0.94385	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.71222	-0.54;-0.54;-0.45;-0.54;-0.45;-0.55	5.72	4.83	0.62350	Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	L	0.49778	1.585	0.80722	D	1	P;P	0.46859	0.861;0.885	P;P	0.51701	0.548;0.677	T	0.77640	-0.2512	10	0.87932	D	0	-18.2527	14.5786	0.68268	0.0:0.9301:0.0:0.0699	.	751;732	G3V1S2;Q13617	.;CUL2_HUMAN	K	732;732;693;732;675;693;751	ENSP00000363883:E732K;ENSP00000363880:E732K;ENSP00000363878:E693K;ENSP00000363881:E732K;ENSP00000363874:E693K;ENSP00000444856:E751K	ENSP00000363874:E693K	E	-	1	0	CUL2	35339289	1.000000	0.71417	0.970000	0.41538	0.983000	0.72400	7.810000	0.86072	1.430000	0.47334	0.591000	0.81541	GAA		0.463	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1		NM_003591	
DLG4	1742	broad.mit.edu	37	17	7111517	7111517	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr17:7111517G>T	ENST00000399506.2	-	2	263	c.72C>A	c.(70-72)caC>caA	p.H24Q	DLG4_ENST00000302955.6_Missense_Mutation_p.H24Q|DLG4_ENST00000399510.2_Missense_Mutation_p.H67Q|DLG4_ENST00000485100.1_Missense_Mutation_p.H24Q			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	24					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)	p.H67Q(1)|p.H24Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	GGGCCGGGCTGTGCTCCAGAG	0.682																																																	2	Substitution - Missense(2)	kidney(2)											85.0	98.0	94.0					17																	7111517		1982	4125	6107	SO:0001583	missense	1742			U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.72C>A	17.37:g.7111517G>T	ENSP00000382425:p.His24Gln	Somatic		WXS	Illumina GAIIx	Phase_I	B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37		.	.	.	.	.	.	.	.	.	.	G	13.77	2.335460	0.41398	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000539674;ENST00000451807;ENST00000447163	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	3.88	3.88	0.44766	.	.	.	.	.	T	0.47673	0.1458	M	0.73962	2.25	0.33226	D	0.555302	B;B;B;B	0.30727	0.034;0.292;0.003;0.001	B;B;B;B	0.39904	0.178;0.313;0.087;0.008	T	0.55522	-0.8128	9	0.13853	T	0.58	.	13.3331	0.60500	0.0:0.0:1.0:0.0	.	67;24;24;67	B9EGL1;G5E939;O14909;P78352-2	.;.;.;.	Q	24;24;67;67;67;24;24	ENSP00000382425:H24Q;ENSP00000307471:H24Q;ENSP00000382428:H67Q;ENSP00000388122:H24Q	ENSP00000293813:H67Q	H	-	3	2	DLG4	7052241	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.362000	0.34148	1.978000	0.57642	0.491000	0.48974	CAC		0.682	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2		NM_001365	
DNAJC7	7266	broad.mit.edu;ucsc.edu	37	17	40148366	40148366	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr17:40148366A>G	ENST00000457167.4	-	4	604	c.368T>C	c.(367-369)cTa>cCa	p.L123P	DNAJC7_ENST00000426588.3_Missense_Mutation_p.L67P|DNAJC7_ENST00000316603.7_Missense_Mutation_p.L67P	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	123					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)	p.L123P(1)|p.L113P(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				ATCCAGTTCTAGGGCTCTCTG	0.502																																					Colon(63;618 1117 8600 10857 19751)												2	Substitution - Missense(2)	kidney(2)											94.0	87.0	89.0					17																	40148366		1905	4138	6043	SO:0001583	missense	7266			U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.368T>C	17.37:g.40148366A>G	ENSP00000406463:p.Leu123Pro	Somatic		WXS	Illumina GAIIx	Phase_I	Q7Z784	Missense_Mutation	SNP	ENST00000457167.4	37	CCDS45677.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.948190	0.73787	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	T;T;T	0.80304	0.76;-1.36;-1.36	5.47	5.47	0.80525	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.205916	0.42682	D	0.000663	D	0.86838	0.6029	M	0.66939	2.045	0.80722	D	1	B;P;B	0.52463	0.056;0.953;0.446	B;P;B	0.59171	0.053;0.853;0.064	D	0.86939	0.2078	10	0.46703	T	0.11	-2.6037	15.8531	0.78952	1.0:0.0:0.0:0.0	.	112;67;123	Q59EH7;Q7Z784;Q99615	.;.;DNJC7_HUMAN	P	123;67;67	ENSP00000406463:L123P;ENSP00000394327:L67P;ENSP00000313311:L67P	ENSP00000313311:L67P	L	-	2	0	DNAJC7	37401892	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.932000	0.92897	2.203000	0.70933	0.533000	0.62120	CTA		0.502	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2			
EPB41L4B	54566	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	111976002	111976002	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr9:111976002G>T	ENST00000374566.3	-	17	2247	c.1730C>A	c.(1729-1731)cCt>cAt	p.P577H		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	577					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)	p.P577H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATGTGCAGAGGAGGCCAGGG	0.542																																																	1	Substitution - Missense(1)	kidney(1)											79.0	82.0	81.0					9																	111976002		1983	4155	6138	SO:0001583	missense	54566			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1730C>A	9.37:g.111976002G>T	ENSP00000363694:p.Pro577His	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.832872	0.50951	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.82984	-1.67	5.47	5.47	0.80525	.	0.686095	0.12076	N	0.501773	T	0.70500	0.3231	N	0.08118	0	0.80722	D	1	B	0.18610	0.029	B	0.06405	0.002	T	0.63980	-0.6514	10	0.49607	T	0.09	.	14.823	0.70087	0.0:0.0:1.0:0.0	.	577	Q9H329	E41LB_HUMAN	H	262;577	ENSP00000363694:P577H	ENSP00000262536:P262H	P	-	2	0	EPB41L4B	111015823	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	6.009000	0.70745	2.576000	0.86940	0.555000	0.69702	CCT		0.542	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1		NM_018424	
FBXW7	55294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	153244135	153244135	+	Silent	SNP	C	C	G			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr4:153244135C>G	ENST00000281708.4	-	12	3251	c.2022G>C	c.(2020-2022)cgG>cgC	p.R674R	RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000393956.3_Silent_p.R498R|FBXW7_ENST00000603548.1_Silent_p.R674R|FBXW7_ENST00000296555.5_Silent_p.R556R|FBXW7_ENST00000263981.5_Silent_p.R594R|FBXW7_ENST00000603841.1_Silent_p.R674R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	674					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R674R(2)|p.R594R(1)|p.R556R(1)|p.?(1)|p.R435R(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGGCTCTGATCCGCCACACAA	0.493			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	6	Substitution - coding silent(5)|Unknown(1)	kidney(5)|haematopoietic_and_lymphoid_tissue(1)											190.0	186.0	187.0					4																	153244135		2203	4300	6503	SO:0001819	synonymous_variant	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.2022G>C	4.37:g.153244135C>G		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	ENST00000281708.4	37	CCDS3777.1																																																																																				0.493	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			
FRMPD4	9758	broad.mit.edu;ucsc.edu	37	X	12736620	12736620	+	Silent	SNP	C	C	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chrX:12736620C>A	ENST00000380682.1	+	16	4181	c.3675C>A	c.(3673-3675)ggC>ggA	p.G1225G		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1225					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.G1215G(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GTGGCACAGGCAGCAGTGGCA	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											53.0	60.0	58.0					X																	12736620		2203	4300	6503	SO:0001819	synonymous_variant	9758			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3675C>A	X.37:g.12736620C>A		Somatic		WXS	Illumina GAIIx	Phase_I	A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	CCDS35201.1																																																																																				0.587	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1		XM_045712	
GOT2	2806	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	58743325	58743325	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr16:58743325T>C	ENST00000245206.5	-	9	1294	c.1166A>G	c.(1165-1167)gAa>gGa	p.E389G	GOT2_ENST00000434819.2_Missense_Mutation_p.E346G	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	389					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.E389G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	ACTCACCTGTTCAGGCTTTAG	0.423																																																	1	Substitution - Missense(1)	kidney(1)											118.0	102.0	107.0					16																	58743325		2198	4300	6498	SO:0001583	missense	2806				CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"""kynurenine aminotransferase IV"", ""aspartate aminotransferase 2"", ""aspartate transaminase 2"""	138150	"""glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"""			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.1166A>G	16.37:g.58743325T>C	ENSP00000245206:p.Glu389Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	CCDS10801.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.585584	0.86748	.	.	ENSG00000125166	ENST00000245206;ENST00000434819	T;T	0.26373	1.74;1.74	5.25	5.25	0.73442	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	M	0.91406	3.205	0.80722	D	1	B;P	0.45044	0.21;0.849	P;P	0.48770	0.589;0.536	T	0.59726	-0.7400	9	.	.	.	0.3295	14.3595	0.66761	0.0:0.0:0.0:1.0	.	346;389	E7ERW2;P00505	.;AATM_HUMAN	G	389;346	ENSP00000245206:E389G;ENSP00000394100:E346G	.	E	-	2	0	GOT2	57300826	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.936000	0.87665	1.981000	0.57761	0.528000	0.53228	GAA		0.423	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			
IWS1	55677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	128263302	128263302	+	Silent	SNP	G	G	T	rs377613210		TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr2:128263302G>T	ENST00000295321.4	-	3	436	c.177C>A	c.(175-177)ggC>ggA	p.G59G	IWS1_ENST00000455721.2_Silent_p.G66G|IWS1_ENST00000486662.1_5'UTR|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	59					mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G59G(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTTTGGGGAGGCCATCTTCTC	0.348																																																	1	Substitution - coding silent(1)	kidney(1)											121.0	123.0	122.0					2																	128263302		2203	4300	6503	SO:0001819	synonymous_variant	55677			AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.177C>A	2.37:g.128263302G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Silent	SNP	ENST00000295321.4	37	CCDS2146.1																																																																																				0.348	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2		NM_017969	
GPR39	2863	broad.mit.edu	37	2	133175094	133175094	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr2:133175094G>A	ENST00000329321.3	+	1	948	c.479G>A	c.(478-480)tGg>tAg	p.W160*		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	160					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)	p.W160*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGCTTCGTCTGGGTCACCTCC	0.607																																																	1	Substitution - Nonsense(1)	kidney(1)											89.0	73.0	78.0					2																	133175094		2203	4300	6503	SO:0001587	stop_gained	2863			AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.479G>A	2.37:g.133175094G>A	ENSP00000327417:p.Trp160*	Somatic		WXS	Illumina GAIIx	Phase_I	B2RC12|B6V9G4|Q08AS2|Q53R01	Nonsense_Mutation	SNP	ENST00000329321.3	37	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	G	43	10.261882	0.99370	.	.	ENSG00000183840	ENST00000329321	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2005	0.93710	0.0:0.0:1.0:0.0	.	.	.	.	X	160	.	ENSP00000327417:W160X	W	+	2	0	GPR39	132891564	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.631000	0.98424	2.782000	0.95742	0.585000	0.79938	TGG		0.607	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			
KRAS	3845	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	25380282	25380282	+	Missense_Mutation	SNP	G	G	C	rs104886029		TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr12:25380282G>C	ENST00000256078.4	-	3	239	c.176C>G	c.(175-177)gCa>gGa	p.A59G	AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.A59G|KRAS_ENST00000557334.1_Intron	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	59			A -> T (in bladder cancer and GASC; somatic mutation). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:1553789}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.A59E(4)|p.A59G(4)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTCTTGACCTGCTGTGTCGAG	0.418		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	8	Substitution - Missense(8)	large_intestine(4)|kidney(2)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											107.0	95.0	99.0					12																	25380282		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.176C>G	12.37:g.25380282G>C	ENSP00000256078:p.Ala59Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961083	0.92791	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.88818	-2.43;-2.43	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.046090	0.85682	D	0.000000	D	0.94785	0.8316	H	0.94542	3.55	0.80722	D	1	B;P	0.34892	0.101;0.474	B;P	0.45506	0.124;0.483	D	0.94788	0.7959	10	0.87932	D	0	.	19.3504	0.94381	0.0:0.0:1.0:0.0	.	59;59	P01116-2;P01116	.;RASK_HUMAN	G	59	ENSP00000308495:A59G;ENSP00000256078:A59G	ENSP00000256078:A59G	A	-	2	0	KRAS	25271549	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.796000	0.99103	2.885000	0.99019	0.655000	0.94253	GCA		0.418	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1		NM_033360	
KRT32	3882	broad.mit.edu;hgsc.bcm.edu	37	17	39619147	39619147	+	Silent	SNP	G	G	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr17:39619147G>A	ENST00000225899.3	-	6	1255	c.1152C>T	c.(1150-1152)gaC>gaT	p.D384D		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	384	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.D384D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GGGCCCGGACGTCCAGCAGCA	0.637																																																	1	Substitution - coding silent(1)	kidney(1)											80.0	80.0	80.0					17																	39619147		2203	4300	6503	SO:0001819	synonymous_variant	3882			X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.1152C>T	17.37:g.39619147G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000225899.3	37	CCDS11393.1																																																																																				0.637	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1		NM_002278	
LEMD1	93273	broad.mit.edu	37	1	205350814	205350814	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr1:205350814G>T	ENST00000367153.4	-	6	620	c.518C>A	c.(517-519)aCt>aAt	p.T173N	LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000391936.2_3'UTR|LEMD1_ENST00000367151.2_Missense_Mutation_p.T132N|LEMD1_ENST00000367149.3_3'UTR|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000367154.1_3'UTR|LEMD1_ENST00000367152.1_Missense_Mutation_p.T132N	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1	173						integral component of membrane (GO:0016021)		p.T173N(1)		breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			ATTTTCCACAGTCAGGTAGAC	0.458																																																	1	Substitution - Missense(1)	kidney(1)											252.0	232.0	239.0					1																	205350814		2203	4300	6503	SO:0001583	missense	93273				CCDS30986.1, CCDS55677.1, CCDS55678.1, CCDS55679.1	1q32.1	2009-03-25			ENSG00000186007	ENSG00000186007			18725	protein-coding gene	gene with protein product	"""cancer/testis antigen 50"""	610480				15254688	Standard	NM_001199050		Approved	LEMP-1, CT50	uc001hcj.2	Q68G75	OTTHUMG00000037201	ENST00000367153.4:c.518C>A	1.37:g.205350814G>T	ENSP00000356121:p.Thr173Asn	Somatic		WXS	Illumina GAIIx	Phase_I	Q6L9T9|Q6L9U0|Q6L9U1|Q6L9U2|Q6L9U3|Q6L9U4	Missense_Mutation	SNP	ENST00000367153.4	37	CCDS55679.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322219	0.23994	.	.	ENSG00000186007	ENST00000367152;ENST00000367153;ENST00000367151	T;T;T	0.62232	0.04;0.05;0.04	4.92	3.99	0.46301	.	0.000000	0.53938	D	0.000054	T	0.65831	0.2729	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.976	T	0.67492	-0.5657	10	0.66056	D	0.02	-24.9752	9.0957	0.36638	0.1061:0.0:0.8939:0.0	.	132;173	Q68G75-3;Q68G75	.;LEMD1_HUMAN	N	132;173;132	ENSP00000356120:T132N;ENSP00000356121:T173N;ENSP00000356119:T132N	ENSP00000356119:T132N	T	-	2	0	LEMD1	203617437	0.988000	0.35896	0.549000	0.28204	0.018000	0.09664	2.482000	0.45224	1.378000	0.46305	0.644000	0.83932	ACT		0.458	LEMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090401.1		NM_001001552	
LILRB5	10990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	54760570	54760570	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr19:54760570G>A	ENST00000316219.5	-	3	244	c.137C>T	c.(136-138)aCc>aTc	p.T46I	LILRB5_ENST00000345866.6_Missense_Mutation_p.T46I|LILRB5_ENST00000449561.2_Missense_Mutation_p.T46I|LILRB5_ENST00000450632.1_Missense_Mutation_p.T46I	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	46	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.T46I(2)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACACCAGAGGGTCACGGGCTT	0.622																																																	2	Substitution - Missense(2)	kidney(2)											85.0	89.0	88.0					19																	54760570		2203	4300	6503	SO:0001583	missense	10990			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.137C>T	19.37:g.54760570G>A	ENSP00000320390:p.Thr46Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127772	0.37533	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	3.18	2.12	0.27331	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.232248	0.30347	N	0.009824	T	0.32224	0.0822	M	0.62154	1.92	0.09310	N	1	D;D;D;D;D	0.89917	0.992;0.999;1.0;1.0;0.998	D;D;D;D;D	0.76575	0.959;0.967;0.947;0.988;0.949	T	0.02991	-1.1085	10	0.66056	D	0.02	.	6.5944	0.22664	0.1402:0.0:0.8598:0.0	.	46;37;46;46;46	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	I	46	ENSP00000320390:T46I;ENSP00000414225:T46I;ENSP00000406478:T46I;ENSP00000263430:T46I	ENSP00000320390:T46I	T	-	2	0	LILRB5	59452382	0.108000	0.22018	0.030000	0.17652	0.002000	0.02628	0.642000	0.24735	0.670000	0.31165	-0.203000	0.12734	ACC		0.622	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			
LIMA1	51474	broad.mit.edu;ucsc.edu	37	12	50616129	50616129	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr12:50616129T>A	ENST00000341247.4	-	4	454	c.305A>T	c.(304-306)gAc>gTc	p.D102V	RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000552909.1_5'UTR|LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000394943.3_Missense_Mutation_p.D102V|LIMA1_ENST00000552823.1_5'UTR|LIMA1_ENST00000552008.1_5'Flank	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	102					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)	p.D102V(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						AGGAGGATGGTCTGCTCTGTG	0.527																																																	1	Substitution - Missense(1)	kidney(1)											199.0	156.0	170.0					12																	50616129		2203	4300	6503	SO:0001583	missense	51474			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.305A>T	12.37:g.50616129T>A	ENSP00000340184:p.Asp102Val	Somatic		WXS	Illumina GAIIx	Phase_I	B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.159048	0.38119	.	.	ENSG00000050405	ENST00000394943;ENST00000341247;ENST00000551691;ENST00000550592	D;T	0.84298	-1.83;-1.09	6.06	-0.285	0.12866	.	1.562420	0.02917	N	0.137501	T	0.78929	0.4361	L	0.54323	1.7	0.58432	D	0.999998	B;B	0.31125	0.309;0.156	B;B	0.25140	0.058;0.026	T	0.64132	-0.6479	10	0.35671	T	0.21	.	2.4172	0.04439	0.11:0.3366:0.2265:0.3269	.	111;102	Q59FE8;Q9UHB6	.;LIMA1_HUMAN	V	102	ENSP00000378400:D102V;ENSP00000340184:D102V	ENSP00000340184:D102V	D	-	2	0	LIMA1	48902396	0.001000	0.12720	0.033000	0.17914	0.659000	0.38960	-0.402000	0.07223	-0.056000	0.13221	-0.250000	0.11733	GAC		0.527	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2		NM_016357	
GSTT1	2952	broad.mit.edu;ucsc.edu	37	22	24373819	24373819	+	IGR	SNP	T	T	C			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr22:24373819T>C	ENST00000248935.5	-	0	1066				KB-226F1.1_ENST00000608619.1_RNA	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN							glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Carboplatin(DB00958)|Cisplatin(DB00515)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)	AATATTATTCTAAAACACAAT	0.517									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial																																								0													57.0	54.0	55.0					22																	24373819		530	1323	1853	SO:0001628	intergenic_variant	391322	Familial Cancer Database	incl.: Familial Myelodysplastic syndrome (late-onset), Familial AML, Familial Monocytic Leukemia, Familial Monosomy 7 and AML																													22.37:g.24373819T>C		Somatic		WXS	Illumina GAIIx	Phase_I	O00226|Q5TZY2|Q6IC69|Q969K8|Q96IY3	Silent	SNP	ENST00000248935.5	37	CCDS13822.1																																																																																				0.517	GSTT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320184.2			
MIR9-2	407047	broad.mit.edu	37	5	87980582	87980583	+	RNA	DEL	TC	TC	-			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr5:87980582_87980583delTC	ENST00000510274.1	+	0	46																											CCAGCTCGTTtctctctctctc	0.53																																																	0																																												0																															5.37:g.87980592_87980593delTC		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000510274.1	37																																																																																					0.530	CTC-467M3.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000369794.1			
LRRC18	474354	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	50121787	50121787	+	Silent	SNP	G	G	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr10:50121787G>A	ENST00000374160.3	-	1	490	c.414C>T	c.(412-414)acC>acT	p.T138T	LRRC18_ENST00000298124.3_Silent_p.T138T|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	138						cytoplasm (GO:0005737)		p.T138T(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CCCCCAGTGTGGTGGGCACGC	0.592																																																	1	Substitution - coding silent(1)	kidney(1)											76.0	76.0	76.0					10																	50121787		2203	4300	6503	SO:0001819	synonymous_variant	474354			AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.414C>T	10.37:g.50121787G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6UY02	Silent	SNP	ENST00000374160.3	37	CCDS31197.1																																																																																				0.592	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047964.1		NM_001006939	
LRRTM3	347731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	68688186	68688186	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr10:68688186C>A	ENST00000361320.4	+	2	2090	c.1512C>A	c.(1510-1512)aaC>aaA	p.N504K	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	504					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.N504K(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GCACCTATAACAAATCGGGCT	0.458																																																	2	Substitution - Missense(2)	kidney(2)											44.0	47.0	46.0					10																	68688186		2198	4292	6490	SO:0001583	missense	347731			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1512C>A	10.37:g.68688186C>A	ENSP00000355187:p.Asn504Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895040	0.52121	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.74737	-0.87	5.93	5.93	0.95920	.	0.453439	0.24561	N	0.037471	T	0.69993	0.3173	N	0.22421	0.69	0.47153	D	0.999339	B;P	0.34587	0.329;0.458	B;B	0.41271	0.191;0.352	T	0.69308	-0.5179	10	0.48119	T	0.1	.	19.1113	0.93317	0.0:1.0:0.0:0.0	.	504;504	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	K	504	ENSP00000355187:N504K	ENSP00000355187:N504K	N	+	3	2	LRRTM3	68358192	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.958000	0.70330	2.811000	0.96726	0.557000	0.71058	AAC		0.458	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2		NM_178011	
MFSD6	54842	hgsc.bcm.edu;ucsc.edu	37	2	191334581	191334581	+	Splice_Site	SNP	G	G	T			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr2:191334581G>T	ENST00000392328.1	+	4	1954	c.1630G>T	c.(1630-1632)Gga>Tga	p.G544*	MFSD6_ENST00000489793.1_3'UTR|MFSD6_ENST00000281416.7_Splice_Site_p.G544*|MFSD6_ENST00000535751.1_Splice_Site_p.G6*	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	544					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						AGTTCTTCAAGGTAAGTTAAC	0.468																																																	0													68.0	66.0	67.0					2																	191334581		2203	4300	6503	SO:0001630	splice_region_variant	54842				CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1630+1G>T	2.37:g.191334581G>T		Somatic		WXS	Illumina HiSeq	Phase_I	D3KSZ4|Q86TH2|Q9NXM3	Nonsense_Mutation	SNP	ENST00000392328.1	37	CCDS2306.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.07|12.07	1.826608|1.826608	0.32329|0.32329	.|.	.|.	ENSG00000151690|ENSG00000151690	ENST00000392328;ENST00000281416;ENST00000444317;ENST00000542423;ENST00000535751|ENST00000434582	.|.	.|.	.|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79805	.|0.4509	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76615	.|-0.2894	.|3	0.72032|.	D|.	0.01|.	-16.9159|-16.9159	19.4379|19.4379	0.94804|0.94804	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|M	544;544;6;6;6|79	.|.	ENSP00000281416:G544X|.	G|R	+|+	1|2	0|0	MFSD6|MFSD6	191042826|191042826	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.006000|0.006000	0.05464|0.05464	9.228000|9.228000	0.95250|0.95250	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGA|AGG		0.468	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			Nonsense_Mutation
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																																	15	Substitution - coding silent(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)											64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T		Somatic		WXS	Illumina GAIIx	Phase_I	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2		NM_014071	
NLRP9	338321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	56243438	56243438	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr19:56243438G>A	ENST00000332836.2	-	2	1786	c.1759C>T	c.(1759-1761)Cat>Tat	p.H587Y		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	587						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.H587Y(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TGTTGACAATGCTTCAGGCAG	0.373																																																	1	Substitution - Missense(1)	kidney(1)											95.0	90.0	92.0					19																	56243438		2203	4300	6503	SO:0001583	missense	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1759C>T	19.37:g.56243438G>A	ENSP00000331857:p.His587Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	G	0.891	-0.725468	0.03158	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.52295	0.67	2.49	0.192	0.15134	.	.	.	.	.	T	0.39200	0.1069	M	0.67700	2.07	0.09310	N	1	B	0.23058	0.079	B	0.23852	0.049	T	0.33033	-0.9884	9	0.28530	T	0.3	.	2.9692	0.05917	0.1558:0.0:0.576:0.2681	.	587	Q7RTR0	NALP9_HUMAN	Y	587	ENSP00000331857:H587Y	ENSP00000331857:H587Y	H	-	1	0	NLRP9	60935250	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.153000	0.10144	0.138000	0.18790	-0.151000	0.13558	CAT		0.373	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1		NM_176820	
NRCAM	4897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	107820706	107820706	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr7:107820706G>A	ENST00000425651.2	-	22	2811	c.2812C>T	c.(2812-2814)Cca>Tca	p.P938S	NRCAM_ENST00000379022.4_Missense_Mutation_p.P938S|NRCAM_ENST00000379024.4_Missense_Mutation_p.P919S|NRCAM_ENST00000379028.3_Missense_Mutation_p.P938S|NRCAM_ENST00000351718.4_Missense_Mutation_p.P922S|NRCAM_ENST00000413765.2_Missense_Mutation_p.P919S	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	938	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.P922S(1)|p.P938S(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GGGCTGGCTGGGCCCTCCCCT	0.532																																																	2	Substitution - Missense(2)	kidney(2)											82.0	73.0	76.0					7																	107820706		2203	4300	6503	SO:0001583	missense	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2812C>T	7.37:g.107820706G>A	ENSP00000401244:p.Pro938Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	32	5.177721	0.94846	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022	T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27	5.56	5.56	0.83823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83547	0.5278	H	0.94264	3.515	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.993;0.999;0.993;1.0	D;D;D;D;D	0.79108	0.934;0.94;0.99;0.959;0.992	D	0.87909	0.2696	10	0.87932	D	0	.	19.5187	0.95176	0.0:0.0:1.0:0.0	.	938;919;919;922;938	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	S	938;938;919;938;922;919;938;938	ENSP00000368314:P938S;ENSP00000407858:P919S;ENSP00000325269:P922S;ENSP00000368310:P919S;ENSP00000401244:P938S;ENSP00000368308:P938S	ENSP00000325269:P922S	P	-	1	0	NRCAM	107607942	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.864000	0.99589	2.609000	0.88269	0.563000	0.77884	CCA		0.532	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2		NM_001037132	
TENM1	10178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	123630881	123630881	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chrX:123630881C>G	ENST00000371130.3	-	20	3743	c.3680G>C	c.(3679-3681)aGt>aCt	p.S1227T	TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000422452.2_Missense_Mutation_p.S1227T	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1227					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S1229T(1)									TTCCAAAATACTAACGGAGTT	0.398																																																	1	Substitution - Missense(1)	kidney(1)											51.0	53.0	52.0					X																	123630881		2203	4300	6503	SO:0001583	missense	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3680G>C	X.37:g.123630881C>G	ENSP00000360171:p.Ser1227Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.366424	0.24771	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90261	-2.51;-2.64	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);	0.207615	0.48767	D	0.000178	T	0.74741	0.3756	N	0.01284	-0.91	0.46798	D	0.999203	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.73924	-0.3829	10	0.02654	T	1	.	18.7655	0.91871	0.0:1.0:0.0:0.0	.	1226;1227;1227	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	T	1227	ENSP00000360171:S1227T;ENSP00000403954:S1227T	ENSP00000360171:S1227T	S	-	2	0	ODZ1	123458562	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.977000	0.56874	2.376000	0.81061	0.600000	0.82982	AGT		0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1		NM_014253	
OTUD3	23252	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	20233088	20233088	+	Silent	SNP	A	A	G			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr1:20233088A>G	ENST00000375120.3	+	7	1000	c.999A>G	c.(997-999)gcA>gcG	p.A333A		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	333			A -> T (in dbSNP:rs10916668).		protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)	p.A333A(1)		breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AAAACAAAGCAAATAAAAACC	0.468																																																	1	Substitution - coding silent(1)	kidney(1)											81.0	82.0	81.0					1																	20233088		1949	4130	6079	SO:0001819	synonymous_variant	23252			AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"""OTU domain containing"""	29038	protein-coding gene	gene with protein product		611758	"""OTU domain containing 3"""			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.999A>G	1.37:g.20233088A>G		Somatic		WXS	Illumina HiSeq	Phase_I	O75047	Silent	SNP	ENST00000375120.3	37	CCDS41279.1																																																																																				0.468	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1			
PAPL	390928	broad.mit.edu	37	19	39591391	39591391	+	Silent	SNP	T	T	G			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr19:39591391T>G	ENST00000331256.5	+	7	979	c.705T>G	c.(703-705)ggT>ggG	p.G235G	PAPL_ENST00000594229.1_Missense_Mutation_p.V194G	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		235						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)	p.G235G(1)									GGGATCTGGGTCCCGCCCACA	0.622																																																	1	Substitution - coding silent(1)	kidney(1)											62.0	65.0	64.0					19																	39591391		2203	4300	6503	SO:0001819	synonymous_variant	390928																														ENST00000331256.5:c.705T>G	19.37:g.39591391T>G		Somatic		WXS	Illumina GAIIx	Phase_I	B2RN68	Silent	SNP	ENST00000331256.5	37	CCDS33018.1																																																																																				0.622	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1			
PHF8	23133	broad.mit.edu;ucsc.edu	37	X	54043171	54043171	+	Splice_Site	SNP	T	T	C			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chrX:54043171T>C	ENST00000357988.5	-	6	921		c.e6-2		PHF8_ENST00000338154.6_Splice_Site|PHF8_ENST00000338946.6_Splice_Site|PHF8_ENST00000322659.8_Splice_Site	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8						brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.?(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TGTCAGAACCTGGAGTAAAGA	0.473																																																	2	Unknown(2)	kidney(2)											88.0	67.0	74.0					X																	54043171		2203	4300	6503	SO:0001630	splice_region_variant	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.563-2A>G	X.37:g.54043171T>C		Somatic		WXS	Illumina GAIIx	Phase_I	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Splice_Site	SNP	ENST00000357988.5	37	CCDS55420.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.990023	0.74589	.	.	ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000396282;ENST00000322659	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4854	0.61361	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHF8	54059896	1.000000	0.71417	0.973000	0.42090	0.894000	0.52154	4.069000	0.57541	1.827000	0.53221	0.417000	0.27973	.		0.473	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2		NM_015107	Intron
PIGN	23556	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	59815498	59815498	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr18:59815498A>G	ENST00000357637.5	-	8	1038	c.623T>C	c.(622-624)tTa>tCa	p.L208S	PIGN_ENST00000400334.3_Missense_Mutation_p.L208S	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	208					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.L208S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				TAATAAATGTAAGAAAAAAAC	0.294																																																	1	Substitution - Missense(1)	kidney(1)											34.0	31.0	32.0					18																	59815498		1741	3915	5656	SO:0001583	missense	23556			AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"""Phosphatidylinositol glycan anchor biosynthesis"""	8967	protein-coding gene	gene with protein product		606097	"""phosphatidylinositol glycan, class N"""			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.623T>C	18.37:g.59815498A>G	ENSP00000350263:p.Leu208Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	ENST00000357637.5	37	CCDS45879.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.588313	0.86851	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.36878	1.23;1.23	5.73	5.73	0.89815	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	D	0.000002	T	0.67730	0.2924	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74864	-0.3519	9	.	.	.	-13.5377	16.0325	0.80588	1.0:0.0:0.0:0.0	.	208;208	B2RCI8;O95427	.;PIGN_HUMAN	S	208	ENSP00000350263:L208S;ENSP00000383188:L208S	.	L	-	2	0	PIGN	57966478	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.082000	0.89513	2.180000	0.69256	0.528000	0.53228	TTA		0.294	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2		NM_176787	
PIK3C2G	5288	broad.mit.edu;ucsc.edu	37	12	18649023	18649023	+	Silent	SNP	T	T	C			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr12:18649023T>C	ENST00000266497.5	+	19	2736	c.2698T>C	c.(2698-2700)Ttg>Ctg	p.L900L	PIK3C2G_ENST00000538779.1_Silent_p.L941L|PIK3C2G_ENST00000433979.1_Silent_p.L900L			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	900					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.L900L(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATCTAATGCTTTGCCATTGAA	0.343																																																	2	Substitution - coding silent(2)	kidney(2)											119.0	103.0	108.0					12																	18649023		1819	4063	5882	SO:0001819	synonymous_variant	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2698T>C	12.37:g.18649023T>C		Somatic		WXS	Illumina GAIIx	Phase_I	A1L3U0	Silent	SNP	ENST00000266497.5	37	CCDS44839.1																																																																																				0.343	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1		NM_004570	
PSD4	23550	hgsc.bcm.edu;ucsc.edu	37	2	113943717	113943717	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr2:113943717delA	ENST00000245796.6	+	5	1708	c.1513delA	c.(1513-1515)aaafs	p.K506fs	PSD4_ENST00000441564.3_Frame_Shift_Del_p.K478fs	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	506					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCCTTGAAGAAAAAGGAGGC	0.537																																																	0													51.0	55.0	54.0					2																	113943717		2203	4300	6503	SO:0001589	frameshift_variant	23550			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1513delA	2.37:g.113943717delA	ENSP00000245796:p.Lys506fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Frame_Shift_Del	DEL	ENST00000245796.6	37	CCDS33276.1																																																																																				0.537	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1		NM_012455	
RPL5	6125	broad.mit.edu;ucsc.edu	37	1	93307322	93307322	+	Splice_Site	SNP	G	G	C			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr1:93307322G>C	ENST00000370321.3	+	8	884		c.e8-1		SNORA66_ENST00000384792.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.?(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		ATCTTTTGTAGGTGGAACCGT	0.338																																																	1	Unknown(1)	kidney(1)											26.0	30.0	28.0					1																	93307322		2196	4285	6481	SO:0001630	splice_region_variant	6125			U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.795-1G>C	1.37:g.93307322G>C		Somatic		WXS	Illumina GAIIx	Phase_I	Q32LZ3|Q53HH6|Q9H3F4	Splice_Site	SNP	ENST00000370321.3	37	CCDS741.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514064	0.64522	.	.	ENSG00000122406	ENST00000432788;ENST00000370321	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6456	0.91409	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPL5	93079910	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	9.742000	0.98846	2.402000	0.81655	0.462000	0.41574	.		0.338	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2		NM_000969	Intron
SEC11A	23478	broad.mit.edu;ucsc.edu	37	15	85230906	85230906	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr15:85230906T>C	ENST00000268220.7	-	3	901	c.261A>G	c.(259-261)atA>atG	p.I87M	RP11-245C17.2_ENST00000558044.1_RNA|SEC11A_ENST00000455959.3_Missense_Mutation_p.I61M|SEC11A_ENST00000558134.1_Missense_Mutation_p.I87M|SEC11A_ENST00000560266.1_Missense_Mutation_p.I87M	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	87					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)	p.I87M(1)		ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			CTCTTCCTTCTATCCTAAAAA	0.378																																																	1	Substitution - Missense(1)	kidney(1)											190.0	178.0	181.0					15																	85230906		1845	4099	5944	SO:0001583	missense	23478			AF061737	CCDS45340.1, CCDS61742.1, CCDS61743.1, CCDS61744.1, CCDS73776.1	15q25.2	2006-11-07	2006-11-07	2006-11-07		ENSG00000140612			17718	protein-coding gene	gene with protein product			"""SEC11-like 1 (S. cerevisiae)"""	SEC11L1			Standard	NM_001271919		Approved	SPC18, sid2895, SPCS4A	uc031qtg.1	P67812		ENST00000268220.7:c.261A>G	15.37:g.85230906T>C	ENSP00000268220:p.Ile87Met	Somatic		WXS	Illumina GAIIx	Phase_I	B2RAD7|B4DUL4|H0YK72|H0YK83|O75957|P21378|Q53FQ8	Missense_Mutation	SNP	ENST00000268220.7	37	CCDS45340.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.520448	0.64747	.	.	ENSG00000140612	ENST00000268220;ENST00000455959	.	.	.	5.68	4.5	0.54988	Peptidase S24/S26A/S26B/S26C (1);Peptidase S24/S26A/S26B/S26C, beta-ribbon domain (1);Peptidase S24/S26A/S26B (1);	0.000000	0.85682	D	0.000000	T	0.77315	0.4112	M	0.80422	2.495	0.58432	D	0.999998	D	0.53885	0.963	D	0.68943	0.961	T	0.80127	-0.1512	9	0.87932	D	0	.	10.6615	0.45704	0.0:0.0:0.1604:0.8396	.	87	P67812	SC11A_HUMAN	M	87;61	.	ENSP00000268220:I87M	I	-	3	3	SEC11A	83031910	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.624000	0.46444	2.176000	0.68965	0.477000	0.44152	ATA		0.378	SEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418777.1		NM_014300	
SEMA3E	9723	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	82996992	82996992	+	Silent	SNP	G	G	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr7:82996992G>A	ENST00000307792.3	-	17	2705	c.2238C>T	c.(2236-2238)ccC>ccT	p.P746P	SEMA3E_ENST00000427262.1_Silent_p.P686P	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	746	Arg/Lys-rich (basic).				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.P746P(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TCCACTTGGAGGGTGACATTT	0.493																																																	1	Substitution - coding silent(1)	kidney(1)											178.0	176.0	177.0					7																	82996992		2203	4300	6503	SO:0001819	synonymous_variant	9723			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.2238C>T	7.37:g.82996992G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4E1P1|Q75M94|Q75M97	Silent	SNP	ENST00000307792.3	37	CCDS34674.1																																																																																				0.493	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1		NM_012431	
SFXN4	119559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	120921912	120921912	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr10:120921912G>C	ENST00000355697.2	-	3	211	c.192C>G	c.(190-192)aaC>aaG	p.N64K	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.N64K	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	64					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)	p.N64K(1)		central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		GTTGCCTCGAGTTTTCTATAC	0.458																																																	1	Substitution - Missense(1)	kidney(1)											126.0	115.0	119.0					10																	120921912		2203	4300	6503	SO:0001583	missense	119559				CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"""Sideroflexins"""	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.192C>G	10.37:g.120921912G>C	ENSP00000347924:p.Asn64Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q6WSU4|Q86TD9	Missense_Mutation	SNP	ENST00000355697.2	37	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.675798	0.00751	.	.	ENSG00000183605	ENST00000355697;ENST00000330036	T;T	0.26223	1.75;1.75	3.41	-0.232	0.13082	.	0.428825	0.22449	N	0.059919	T	0.07593	0.0191	N	0.04880	-0.145	0.20489	N	0.999895	B	0.02656	0.0	B	0.04013	0.001	T	0.31916	-0.9926	10	0.06494	T	0.89	-8.9213	3.1968	0.06636	0.0:0.2945:0.2477:0.4579	.	64	Q6P4A7	SFXN4_HUMAN	K	64	ENSP00000347924:N64K;ENSP00000333200:N64K	ENSP00000333200:N64K	N	-	3	2	SFXN4	120911902	0.005000	0.15991	0.359000	0.25824	0.005000	0.04900	-0.803000	0.04540	-0.051000	0.13334	-0.471000	0.05019	AAC		0.458	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3		XM_058406	
SHC1	6464	broad.mit.edu;ucsc.edu	37	1	154941261	154941261	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr1:154941261T>G	ENST00000368445.5	-	3	830	c.616A>C	c.(616-618)Aca>Cca	p.T206P	SHC1_ENST00000368449.4_Intron|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368450.1_Missense_Mutation_p.T96P|SHC1_ENST00000368453.4_Missense_Mutation_p.T96P|SHC1_ENST00000448116.2_Missense_Mutation_p.T206P	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	206	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.T96P(1)|p.T206P(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCTCCTTGTCGCCCCCTTA	0.637																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)												2	Substitution - Missense(2)	kidney(2)											148.0	127.0	134.0					1																	154941261		2203	4300	6503	SO:0001583	missense	6464			U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.616A>C	1.37:g.154941261T>G	ENSP00000357430:p.Thr206Pro	Somatic		WXS	Illumina GAIIx	Phase_I	B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	T	9.095	1.002763	0.19121	.	.	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000412170;ENST00000366442	T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49	5.03	2.64	0.31445	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.582496	0.19532	N	0.112016	T	0.05502	0.0145	N	0.25647	0.755	0.09310	N	1	B;B	0.24675	0.004;0.109	B;P	0.45639	0.031;0.488	T	0.45906	-0.9229	10	0.31617	T	0.26	.	3.6692	0.08268	0.1973:0.1306:0.0:0.6722	.	206;206	P29353-6;P29353	.;SHC1_HUMAN	P	206;206;96;96;142;96;96	ENSP00000357430:T206P;ENSP00000401303:T206P;ENSP00000357438:T96P;ENSP00000357435:T96P;ENSP00000398441:T96P;ENSP00000396162:T96P	ENSP00000396162:T96P	T	-	1	0	SHC1	153207885	0.063000	0.20901	0.014000	0.15608	0.698000	0.40448	0.854000	0.27791	0.913000	0.36797	0.260000	0.18958	ACA		0.637	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2		NM_183001	
SLC4A7	9497	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	27442256	27442256	+	Splice_Site	SNP	G	G	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr3:27442256G>A	ENST00000295736.5	-	16	2469	c.2399C>T	c.(2398-2400)tCt>tTt	p.S800F	SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000445684.1_Splice_Site_p.S796F|SLC4A7_ENST00000440156.1_Splice_Site_p.S796F|SLC4A7_ENST00000435667.2_Splice_Site_p.S685F|SLC4A7_ENST00000455077.1_Splice_Site_p.S681F|SLC4A7_ENST00000446700.1_Splice_Site_p.S792F|SLC4A7_ENST00000428386.1_Splice_Site_p.S676F|SLC4A7_ENST00000454389.1_Splice_Site_p.S809F|SLC4A7_ENST00000437179.1_Splice_Site_p.S681F|SLC4A7_ENST00000388777.4_Splice_Site_p.S350F	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	800					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.S800F(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TATACTCACAGAAACAGTAAG	0.338																																																	1	Substitution - Missense(1)	kidney(1)											111.0	113.0	112.0					3																	27442256		2203	4298	6501	SO:0001630	splice_region_variant	9497			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2400+1C>T	3.37:g.27442256G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.188555	0.38609	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.43	4.52	0.55395	Bicarbonate transporter, C-terminal (1);	0.269450	0.37857	N	0.001915	D	0.85805	0.5782	M	0.66939	2.045	0.80722	D	1	P;P;P;P;P;B;P;P;P	0.41366	0.747;0.537;0.747;0.564;0.537;0.313;0.481;0.747;0.537	P;B;P;P;B;B;B;P;P	0.54026	0.74;0.436;0.74;0.507;0.389;0.402;0.309;0.74;0.722	D	0.87072	0.2160	10	0.72032	D	0.01	.	14.0602	0.64795	0.0:0.0:0.7317:0.2683	.	796;681;792;796;809;350;676;800;681	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	F	351;800;676;809;796;681;792;681;796;685;350;696	ENSP00000411031:S351F;ENSP00000295736:S800F;ENSP00000416368:S676F;ENSP00000390394:S809F;ENSP00000414797:S796F;ENSP00000394252:S681F;ENSP00000406605:S792F;ENSP00000407382:S681F;ENSP00000406804:S796F;ENSP00000395336:S685F;ENSP00000373429:S350F;ENSP00000388703:S696F	ENSP00000295736:S800F	S	-	2	0	SLC4A7	27417260	0.531000	0.26338	1.000000	0.80357	0.528000	0.34623	1.051000	0.30417	2.560000	0.86352	0.467000	0.42956	TCT		0.338	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2		NM_003615	Missense_Mutation
SNX25	83891	broad.mit.edu;ucsc.edu	37	4	186283245	186283245	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr4:186283245T>C	ENST00000504273.1	+	17	2621	c.2327T>C	c.(2326-2328)cTt>cCt	p.L776P	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.L776P			Q9H3E2	SNX25_HUMAN	sorting nexin 25	776					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.L776P(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CAAAAGCTGCTTGAAAACATT	0.468																																																	1	Substitution - Missense(1)	kidney(1)											36.0	35.0	35.0					4																	186283245		2203	4300	6503	SO:0001583	missense	83891			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.2327T>C	4.37:g.186283245T>C	ENSP00000426255:p.Leu776Pro	Somatic		WXS	Illumina GAIIx	Phase_I	Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955374	0.73902	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.32753	1.44;1.44	5.29	5.29	0.74685	Sorting nexin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59865	0.2225	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.63954	-0.6520	10	0.44086	T	0.13	-14.6889	15.5242	0.75890	0.0:0.0:0.0:1.0	.	492;309;776	Q8N6K3;Q9H5Q8;Q9H3E2	.;.;SNX25_HUMAN	P	776;776;309	ENSP00000426255:L776P;ENSP00000264694:L776P	ENSP00000264693:L309P	L	+	2	0	SNX25	186520239	1.000000	0.71417	0.643000	0.29450	0.845000	0.48019	7.647000	0.83462	2.144000	0.66660	0.443000	0.29094	CTT		0.468	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1		NM_031953	
TARBP1	6894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	234599596	234599596	+	Silent	SNP	T	T	C			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr1:234599596T>C	ENST00000040877.1	-	6	1385	c.1386A>G	c.(1384-1386)ccA>ccG	p.P462P		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	462					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.P462P(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TTATTTCTTCTGGAAGAAGAG	0.353																																																	2	Substitution - coding silent(2)	lung(1)|kidney(1)											25.0	27.0	26.0					1																	234599596		2203	4300	6503	SO:0001819	synonymous_variant	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.1386A>G	1.37:g.234599596T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q9H581	Silent	SNP	ENST00000040877.1	37	CCDS1601.1																																																																																				0.353	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1		NM_005646	
TAS2R46	259292	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	11214646	11214646	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr12:11214646G>T	ENST00000533467.1	-	1	247	c.248C>A	c.(247-249)aCt>aAt	p.T83N	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	83					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.T83N(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		ATTGTAAGCAGTAATTCTTAC	0.393																																																	1	Substitution - Missense(1)	kidney(1)											73.0	75.0	74.0					12																	11214646		2040	4231	6271	SO:0001583	missense	259292			AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.248C>A	12.37:g.11214646G>T	ENSP00000436450:p.Thr83Asn	Somatic		WXS	Illumina HiSeq	Phase_I	P59548|Q645X6	Missense_Mutation	SNP	ENST00000533467.1	37	CCDS53748.1	.	.	.	.	.	.	.	.	.	.	G	6.140	0.393960	0.11638	.	.	ENSG00000226761	ENST00000533467	T	0.39229	1.09	1.38	-1.67	0.08238	.	.	.	.	.	T	0.40767	0.1130	M	0.65498	2.005	0.09310	N	1	P	0.45531	0.86	P	0.47705	0.555	T	0.28202	-1.0051	9	0.35671	T	0.21	.	2.9711	0.05923	0.5559:0.2538:0.1903:0.0	.	83	P59540	T2R46_HUMAN	N	83	ENSP00000436450:T83N	ENSP00000436450:T83N	T	-	2	0	TAS2R46	11105913	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.501000	0.06398	-0.398000	0.07679	0.194000	0.17425	ACT		0.393	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1		NM_176887	
TTC17	55761	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	43469635	43469635	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr11:43469635G>A	ENST00000039989.4	+	19	2763	c.2749G>A	c.(2749-2751)Gtg>Atg	p.V917M		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	917					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.V917M(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GACTGCCATCGTGAGTACCTG	0.493																																																	1	Substitution - Missense(1)	kidney(1)											85.0	71.0	75.0					11																	43469635		2203	4300	6503	SO:0001583	missense	55761			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2749G>A	11.37:g.43469635G>A	ENSP00000039989:p.Val917Met	Somatic		WXS	Illumina HiSeq	Phase_I	G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026182	0.75390	.	.	ENSG00000052841	ENST00000039989	T	0.32272	1.46	5.91	5.91	0.95273	.	0.114590	0.64402	D	0.000018	T	0.20577	0.0495	N	0.08118	0	0.39696	D	0.971116	D	0.58268	0.982	B	0.42062	0.374	T	0.05402	-1.0887	10	0.32370	T	0.25	-8.2916	20.3011	0.98612	0.0:0.0:1.0:0.0	.	917	Q96AE7	TTC17_HUMAN	M	917	ENSP00000039989:V917M	ENSP00000039989:V917M	V	+	1	0	TTC17	43426211	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.850000	0.92190	2.804000	0.96469	0.650000	0.86243	GTG		0.493	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2		NM_018259	
SMG1P7	100506060	broad.mit.edu	37	16	70268080	70268080	+	RNA	SNP	T	T	C			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr16:70268080T>C	ENST00000459379.1	-	0	0																											GTCTTACTGTTGGCTAAAAGG	0.373																																																	0																																												0																															16.37:g.70268080T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000459379.1	37																																																																																					0.373	snoU13.216-201	NOVEL	basic	snoRNA	snoRNA				
KRT16P3	644945	broad.mit.edu	37	17	20405972	20405972	+	RNA	SNP	G	G	A	rs62068021	byFrequency	TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr17:20405972G>A	ENST00000580113.1	-	0	891									keratin 16 pseudogene 3																		ACCTCACTGCGGCTGCTCTGT	0.587													g|||	725	0.144768	0.0189	0.3055	5008	,	,		11366	0.0139		0.328	False		,,,				2504	0.1472																0																																												0			BC110641		17p11.2	2014-06-12			ENSG00000214822	ENSG00000214822			37808	pseudogene	pseudogene			"""cytokeratin, Smith Magenis syndrome chromosome region"""	KERSMCR			Standard	NR_029393		Approved	MGC102966	uc002gxb.3		OTTHUMG00000130724		17.37:g.20405972G>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000580113.1	37																																																																																					0.587	KRT16P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000443764.1		NR_029393	
LOC401242	401242	broad.mit.edu	37	6	28829145	28829146	+	lincRNA	DEL	TA	TA	-			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	TA	TA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr6:28829145_28829146delTA	ENST00000440244.1	-	0	713_714					NR_033379.1																						GTAACACTGCTATAGAAATCTA	0.446																																																	0																																												0																															6.37:g.28829147_28829148delTA		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000440244.1	37																																																																																					0.446	XXbac-BPG308K3.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000192594.1			
STAU2	27067	broad.mit.edu	37	8	74332336	74332336	+	IGR	DEL	G	G	-			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr8:74332336delG	ENST00000524300.1	-	0	3065				STAU2-AS1_ENST00000517604.1_lincRNA	NM_001164380.1|NM_001164381.1	NP_001157852.1|NP_001157853.1	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2						transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTGTCATGTTGGGTCGAGCAG	0.418																																																	0																																										SO:0001628	intergenic_variant	0			Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499		8.37:g.74332336delG		Somatic		WXS	Illumina GAIIx	Phase_I	B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Frame_Shift_Del	DEL	ENST00000524300.1	37	CCDS55247.1																																																																																				0.418	STAU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379000.2		NM_001164380	
