#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
ACP5	54	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	11687390	11687390	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr19:11687390G>A	ENST00000592828.1	-	6	805	c.403C>T	c.(403-405)Cct>Tct	p.P135S	ACP5_ENST00000412435.2_Missense_Mutation_p.P135S|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.P135S|ACP5_ENST00000218758.5_Missense_Mutation_p.P135S	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	135					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)	p.P135S(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						CGGTAGAAAGGGCTGGGGAAG	0.562																																																	1	Substitution - Missense(1)	kidney(1)											81.0	90.0	87.0					19																	11687390		2203	4300	6503	SO:0001583	missense	54			X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"""tartrate-resistant acid phosphatase"""	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.403C>T	19.37:g.11687390G>A	ENSP00000468767:p.Pro135Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Missense_Mutation	SNP	ENST00000592828.1	37	CCDS12265.1	.	.	.	.	.	.	.	.	.	.	g	4.926	0.172087	0.09391	.	.	ENSG00000102575	ENST00000218758;ENST00000412435;ENST00000433365	D;D;D	0.84873	-1.91;-1.91;-1.91	5.13	5.13	0.70059	Metallophosphoesterase domain (1);	0.378221	0.30920	N	0.008603	T	0.69342	0.3100	N	0.12853	0.265	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.63594	-0.6602	10	0.22109	T	0.4	0.4086	7.9798	0.30177	0.1769:0.0:0.8231:0.0	.	135	P13686	PPA5_HUMAN	S	135	ENSP00000218758:P135S;ENSP00000392374:P135S;ENSP00000413456:P135S	ENSP00000218758:P135S	P	-	1	0	ACP5	11548390	0.989000	0.36119	0.941000	0.38009	0.007000	0.05969	2.365000	0.44196	2.377000	0.81083	0.655000	0.94253	CCT		0.562	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458881.1			
ADAMTS9	56999	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	64579996	64579996	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr3:64579996C>T	ENST00000498707.1	-	28	4636	c.4294G>A	c.(4294-4296)Gag>Aag	p.E1432K	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.E1404K	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1432	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E1432K(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTACACTGCTCACGATCGGGA	0.493																																																	1	Substitution - Missense(1)	kidney(1)											209.0	192.0	198.0					3																	64579996		2203	4300	6503	SO:0001583	missense	56999			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4294G>A	3.37:g.64579996C>T	ENSP00000418735:p.Glu1432Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607604	0.66558	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.55760	0.5;0.5	5.36	5.36	0.76844	.	0.116868	0.56097	D	0.000024	T	0.59088	0.2168	L	0.41906	1.305	0.80722	D	1	P;D;B	0.67145	0.866;0.996;0.205	P;P;B	0.60609	0.507;0.877;0.155	T	0.48031	-0.9070	10	0.07482	T	0.82	.	19.2909	0.94098	0.0:1.0:0.0:0.0	.	1404;1432;1432	B7ZVX9;Q9P2N4-1;Q9P2N4	.;.;ATS9_HUMAN	K	1404;1432	ENSP00000295903:E1404K;ENSP00000418735:E1432K	ENSP00000295903:E1404K	E	-	1	0	ADAMTS9	64555036	1.000000	0.71417	0.966000	0.40874	0.276000	0.26787	7.288000	0.78691	2.797000	0.96272	0.563000	0.77884	GAG		0.493	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			
AIFM1	9131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	129265759	129265759	+	Silent	SNP	G	G	A	rs146608893		TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chrX:129265759G>A	ENST00000287295.3	-	14	1694	c.1464C>T	c.(1462-1464)ccC>ccT	p.P488P	AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Silent_p.P484P|AIFM1_ENST00000346424.2_Silent_p.P201P|AIFM1_ENST00000440263.1_Silent_p.P136P|AIFM1_ENST00000460436.2_Silent_p.P149P	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	488					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.P488P(2)|p.P484P(2)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	AGCCAACATCGGGGCCCAAAT	0.458																																																	4	Substitution - coding silent(4)	ovary(2)|kidney(2)						G	,,,,	1,3834		0,1,1631,571	124.0	110.0	115.0		408,,1464,1452,603	-7.9	0.8	X	dbSNP_134	115	0,6728		0,0,2428,1872	no	coding-synonymous,utr-3,coding-synonymous,coding-synonymous,coding-synonymous	AIFM1	NM_001130846.2,NM_001130847.3,NM_004208.3,NM_145812.2,NM_145813.2	,,,,	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	,,,,	136/262,,488/614,484/610,201/327	129265759	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	9131			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1464C>T	X.37:g.129265759G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Silent	SNP	ENST00000287295.3	37	CCDS14618.1																																																																																				0.458	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			
ANK3	288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	61830323	61830323	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr10:61830323A>G	ENST00000280772.2	-	37	10507	c.10316T>C	c.(10315-10317)aTg>aCg	p.M3439T	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3439					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.M3439T(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTAATTTCCATGGCTTGAAT	0.458																																																	1	Substitution - Missense(1)	kidney(1)											88.0	83.0	85.0					10																	61830323		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10316T>C	10.37:g.61830323A>G	ENSP00000280772:p.Met3439Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.060878	0.00386	.	.	ENSG00000151150	ENST00000280772	T	0.61859	0.07	5.62	4.47	0.54385	.	0.663424	0.13362	N	0.393575	T	0.35248	0.0925	N	0.08118	0	0.49687	D	0.999818	B	0.06786	0.001	B	0.08055	0.003	T	0.07385	-1.0775	10	0.19147	T	0.46	.	10.0559	0.42244	0.7312:0.0:0.0:0.2688	.	3439	Q12955	ANK3_HUMAN	T	3439	ENSP00000280772:M3439T	ENSP00000280772:M3439T	M	-	2	0	ANK3	61500329	0.910000	0.30920	0.126000	0.21872	0.031000	0.12232	2.110000	0.41873	0.941000	0.37499	-0.336000	0.08194	ATG		0.458	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987	
B3GALT2	8707	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	193150003	193150003	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr1:193150003T>G	ENST00000367434.4	-	2	1445	c.690A>C	c.(688-690)aaA>aaC	p.K230N	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	230					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.K230N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						CCATTAGTGTTTTAATGGTCA	0.338																																																	1	Substitution - Missense(1)	kidney(1)											120.0	118.0	118.0					1																	193150003		2203	4299	6502	SO:0001583	missense	8707			Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"""Beta 3-glycosyltransferases"""	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.690A>C	1.37:g.193150003T>G	ENSP00000356404:p.Lys230Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	37	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.825202	0.50739	.	.	ENSG00000162630	ENST00000367434	T	0.73152	-0.72	5.68	3.35	0.38373	.	0.000000	0.85682	D	0.000000	D	0.88757	0.6523	H	0.98559	4.265	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89648	0.3867	10	0.87932	D	0	.	9.3398	0.38074	0.0:0.1923:0.0:0.8077	.	230	O43825	B3GT2_HUMAN	N	230	ENSP00000356404:K230N	ENSP00000356404:K230N	K	-	3	2	B3GALT2	191416626	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.033000	0.30191	0.978000	0.38470	0.528000	0.53228	AAA		0.338	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1		NM_003783	
C14orf159	80017	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	91636352	91636352	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr14:91636352G>T	ENST00000523771.1	+	5	866	c.263G>T	c.(262-264)gGc>gTc	p.G88V	C14orf159_ENST00000520328.1_Missense_Mutation_p.G88V|C14orf159_ENST00000523816.1_Missense_Mutation_p.G88V|C14orf159_ENST00000412671.2_Missense_Mutation_p.G88V|C14orf159_ENST00000518868.1_Missense_Mutation_p.G88V|C14orf159_ENST00000256324.10_Missense_Mutation_p.G88V|C14orf159_ENST00000521077.2_Missense_Mutation_p.G88V|C14orf159_ENST00000428926.2_Missense_Mutation_p.G88V|C14orf159_ENST00000525393.2_Intron|C14orf159_ENST00000522322.1_Missense_Mutation_p.G88V			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	88						mitochondrion (GO:0005739)		p.G88V(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CCCAGGATGGGCCATCCCCAG	0.572																																																	1	Substitution - Missense(1)	kidney(1)											73.0	80.0	78.0					14																	91636352		2203	4300	6503	SO:0001583	missense	80017			AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.263G>T	14.37:g.91636352G>T	ENSP00000429655:p.Gly88Val	Somatic		WXS	Illumina HiSeq	Phase_I	B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	ENST00000523771.1	37	CCDS32141.1	.	.	.	.	.	.	.	.	.	.	G	4.346	0.063609	0.08388	.	.	ENSG00000133943	ENST00000521334;ENST00000518871;ENST00000520328;ENST00000256324;ENST00000522170;ENST00000519950;ENST00000521077;ENST00000518868;ENST00000523816;ENST00000517518;ENST00000428926;ENST00000523894;ENST00000522322;ENST00000523771;ENST00000521064;ENST00000412671	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	4.99	-1.61	0.08399	.	0.376195	0.28301	N	0.015857	T	0.19167	0.0460	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B	0.19583	0.002;0.037;0.013;0.004;0.004	B;B;B;B;B	0.16289	0.004;0.015;0.014;0.008;0.008	T	0.12734	-1.0536	10	0.87932	D	0	.	4.8185	0.13378	0.3515:0.0:0.4648:0.1837	.	88;88;88;88;88	Q7Z3D6;B3KVU6;Q7Z3D6-5;Q7Z3D6-2;Q7Z3D6-3	CN159_HUMAN;.;.;.;.	V	88	ENSP00000430022:G88V;ENSP00000429189:G88V;ENSP00000429453:G88V;ENSP00000256324:G88V;ENSP00000430666:G88V;ENSP00000428296:G88V;ENSP00000430137:G88V;ENSP00000428263:G88V;ENSP00000428974:G88V;ENSP00000428652:G88V;ENSP00000404343:G88V;ENSP00000429459:G88V;ENSP00000427953:G88V;ENSP00000429655:G88V;ENSP00000429392:G88V;ENSP00000404196:G88V	ENSP00000256324:G88V	G	+	2	0	C14orf159	90706105	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	1.030000	0.30153	-0.367000	0.08052	-1.164000	0.01763	GGC		0.572	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1		NM_024952	
GFOD1	54438	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	13470345	13470345	+	Intron	SNP	T	T	C			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr6:13470345T>C	ENST00000379287.3	-	1	918				GFOD1_ENST00000379278.3_5'UTR|AL583828.1_ENST00000558378.1_Silent_p.V56V|GFOD1_ENST00000603223.1_3'UTR	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.V56V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			AACCGATAAATACTGCAGTTG	0.438																																																	1	Substitution - coding silent(1)	kidney(1)											67.0	63.0	64.0					6																	13470345		2203	4300	6503	SO:0001627	intron_variant	0			AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.253+16524A>G	6.37:g.13470345T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8E4L6|Q5T058|Q96JD4|Q9H5K2	Silent	SNP	ENST00000379287.3	37	CCDS4524.1																																																																																				0.438	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1		NM_018988	
CACNB1	782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	37341384	37341384	+	Splice_Site	SNP	C	C	T			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr17:37341384C>T	ENST00000394303.3	-	7	855	c.648G>A	c.(646-648)tcG>tcA	p.S216S	CACNB1_ENST00000394310.3_Splice_Site_p.S216S|CACNB1_ENST00000582877.1_5'Flank|CACNB1_ENST00000344140.5_Intron	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	216					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.S216S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TGATACTCACCGACTTCTGCT	0.597																																					Esophageal Squamous(5;100 366 38393 41452 45827)												1	Substitution - coding silent(1)	kidney(1)											73.0	78.0	76.0					17																	37341384		1985	4165	6150	SO:0001630	splice_region_variant	782				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.648+1G>A	17.37:g.37341384C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Silent	SNP	ENST00000394303.3	37	CCDS42311.1																																																																																				0.597	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			Silent
CIZ1	25792	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	130938657	130938657	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr9:130938657G>A	ENST00000393608.1	-	11	2118	c.1916C>T	c.(1915-1917)cCc>cTc	p.P639L	CIZ1_ENST00000277465.4_Missense_Mutation_p.P611L|CIZ1_ENST00000325721.8_Missense_Mutation_p.P610L|CIZ1_ENST00000372948.3_Missense_Mutation_p.P583L|CIZ1_ENST00000372954.1_Missense_Mutation_p.P559L|CIZ1_ENST00000541172.1_Missense_Mutation_p.P538L|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000538431.1_Missense_Mutation_p.P639L|CIZ1_ENST00000372938.5_Missense_Mutation_p.P639L|CIZ1_ENST00000357558.5_Missense_Mutation_p.P611L	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	639					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P639L(1)|p.L636_R640delLPVPR(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						GACGTCCCGGGGCACGGGCAG	0.632																																																	2	Substitution - Missense(1)|Deletion - In frame(1)	breast(1)|kidney(1)											98.0	100.0	99.0					9																	130938657		2203	4300	6503	SO:0001583	missense	25792			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.1916C>T	9.37:g.130938657G>A	ENSP00000377232:p.Pro639Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	ENST00000393608.1	37	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993375	0.35131	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372948;ENST00000372938;ENST00000415526	T;T;T;T;T;T;T;T;T;T	0.35236	1.32;1.5;1.52;1.65;1.5;1.91;1.65;1.32;1.5;2.08	5.43	3.39	0.38822	.	0.311466	0.23530	N	0.047192	T	0.35480	0.0933	N	0.14661	0.345	0.32083	N	0.592845	D;D;P;D;P;P;P	0.69078	0.997;0.969;0.935;0.994;0.934;0.955;0.893	D;P;P;P;P;P;P	0.63703	0.917;0.663;0.7;0.9;0.449;0.652;0.504	T	0.35051	-0.9804	10	0.27082	T	0.32	-9.674	10.5293	0.44967	0.0829:0.0:0.7391:0.178	.	639;578;583;559;639;610;611	B7Z3U7;B4E0A3;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;CIZ1_HUMAN;.;.	L	559;639;639;611;610;578;538;611;583;639;561	ENSP00000362045:P559L;ENSP00000377232:P639L;ENSP00000439244:P639L;ENSP00000350169:P611L;ENSP00000320374:P610L;ENSP00000445057:P538L;ENSP00000277465:P611L;ENSP00000362039:P583L;ENSP00000362029:P639L;ENSP00000398011:P561L	ENSP00000277465:P611L	P	-	2	0	CIZ1	129978478	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	2.025000	0.41059	1.287000	0.44583	-0.379000	0.06801	CCC		0.632	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1		NM_012127	
COL4A5	1287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	107868987	107868987	+	Silent	SNP	T	T	G			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chrX:107868987T>G	ENST00000361603.2	+	35	3313	c.3069T>G	c.(3067-3069)ccT>ccG	p.P1023P	COL4A5_ENST00000328300.6_Silent_p.P1023P	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1023	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.P1023P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TAGGACCTCCTGGACTTAAAG	0.413									Alport syndrome with Diffuse Leiomyomatosis																																								1	Substitution - coding silent(1)	kidney(1)											73.0	65.0	68.0					X																	107868987		2203	4300	6503	SO:0001819	synonymous_variant	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3069T>G	X.37:g.107868987T>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	T	8.940	0.965540	0.18583	.	.	ENSG00000188153	ENST00000505728	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	T	0.56156	0.1966	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55398	-0.8147	4	.	.	.	.	6.4382	0.21835	0.1392:0.0:0.2406:0.6202	.	.	.	.	R	101	.	.	L	+	2	0	COL4A5	107755643	0.995000	0.38212	1.000000	0.80357	0.908000	0.53690	0.220000	0.17660	1.801000	0.52704	0.412000	0.27726	CTG		0.413	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			
DNAH1	25981	broad.mit.edu;ucsc.edu	37	3	52360871	52360871	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr3:52360871delC	ENST00000420323.2	+	5	963	c.702delC	c.(700-702)ggcfs	p.G234fs		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	234	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCGAACAGGGCCATGACCCAA	0.597																																																	0													108.0	131.0	123.0					3																	52360871		2106	4223	6329	SO:0001589	frameshift_variant	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.702delC	3.37:g.52360871delC	ENSP00000401514:p.Gly234fs	Somatic		WXS	Illumina GAIIx	Phase_I	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Frame_Shift_Del	DEL	ENST00000420323.2	37	CCDS46842.1																																																																																				0.597	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1		NM_015512	
EFNA1	1942	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155104091	155104091	+	Silent	SNP	A	A	G			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr1:155104091A>G	ENST00000368407.3	+	2	887	c.369A>G	c.(367-369)ggA>ggG	p.G123G	EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Silent_p.G123G	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	123	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|ephrin receptor signaling pathway (GO:0048013)|mitral valve morphogenesis (GO:0003183)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|notochord formation (GO:0014028)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of angiogenesis (GO:0045765)|regulation of axonogenesis (GO:0050770)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|substrate adhesion-dependent cell spreading (GO:0034446)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ephrin receptor binding (GO:0046875)|receptor binding (GO:0005102)	p.G123G(1)		breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCAAAGAAGGACACAGCTACT	0.522																																																	1	Substitution - coding silent(1)	kidney(1)											54.0	48.0	50.0					1																	155104091		2203	4300	6503	SO:0001819	synonymous_variant	1942				CCDS1091.1, CCDS1092.1	1q21-q22	2011-03-09			ENSG00000169242	ENSG00000169242		"""Ephrins"""	3221	protein-coding gene	gene with protein product		191164		TNFAIP4, EPLG1		2233719, 8660976	Standard	NM_182685		Approved	LERK1, ECKLG	uc001fhh.3	P20827	OTTHUMG00000035312	ENST00000368407.3:c.369A>G	1.37:g.155104091A>G		Somatic		WXS	Illumina HiSeq	Phase_I	D3DV86|Q5SR60|Q5SR61|Q6I9T9|Q8N578	Silent	SNP	ENST00000368407.3	37	CCDS1091.1																																																																																				0.522	EFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085428.1		NM_004428	
GPRASP1	9737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	101910199	101910199	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chrX:101910199G>T	ENST00000361600.5	+	5	2159	c.1358G>T	c.(1357-1359)aGt>aTt	p.S453I	GPRASP1_ENST00000537097.1_Missense_Mutation_p.S453I|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.S453I|GPRASP1_ENST00000415986.1_Missense_Mutation_p.S453I	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	453					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.S453I(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGGGCTAGCAGTAAATCCAGA	0.507																																																	1	Substitution - Missense(1)	kidney(1)											116.0	103.0	108.0					X																	101910199		2203	4300	6503	SO:0001583	missense	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1358G>T	X.37:g.101910199G>T	ENSP00000355146:p.Ser453Ile	Somatic		WXS	Illumina HiSeq	Phase_I	O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	g	3.250	-0.153545	0.06585	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09073	3.02;3.02;3.02;3.02	2.78	-3.77	0.04346	.	.	.	.	.	T	0.05227	0.0139	L	0.40543	1.245	0.09310	N	1	B	0.29909	0.261	B	0.28553	0.091	T	0.37526	-0.9702	9	0.30854	T	0.27	2.9843	1.3848	0.02238	0.5117:0.1561:0.1743:0.1579	.	453	Q5JY77	GASP1_HUMAN	I	453	ENSP00000393691:S453I;ENSP00000409420:S453I;ENSP00000355146:S453I;ENSP00000445683:S453I	ENSP00000355146:S453I	S	+	2	0	GPRASP1	101796855	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.582000	0.05814	-1.148000	0.02847	0.519000	0.50382	AGT		0.507	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2		NM_014710	
HGS	9146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	79667601	79667601	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr17:79667601T>C	ENST00000329138.4	+	19	2122	c.1987T>C	c.(1987-1989)Tac>Cac	p.Y663H	SLC25A10_ENST00000541223.1_5'Flank|MRPL12_ENST00000333676.3_5'Flank|SLC25A10_ENST00000571730.1_5'Flank|RP13-1032I1.7_ENST00000575312.1_RNA	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	663	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.Y663H(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TTACTCATCCTACCAGCCTAC	0.706																																																	1	Substitution - Missense(1)	kidney(1)											25.0	31.0	29.0					17																	79667601		2202	4300	6502	SO:0001583	missense	9146			D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.1987T>C	17.37:g.79667601T>C	ENSP00000331201:p.Tyr663His	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.597591	0.46318	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.38887	1.11	4.65	4.65	0.58169	.	3.725590	0.00531	N	0.000206	T	0.48169	0.1485	L	0.54323	1.7	0.58432	D	0.999997	P	0.48998	0.918	P	0.45167	0.472	T	0.45041	-0.9288	10	0.16896	T	0.51	-17.0111	13.037	0.58877	0.0:0.0:0.0:1.0	.	663	O14964	HGS_HUMAN	H	663;577	ENSP00000331201:Y663H	ENSP00000331201:Y663H	Y	+	1	0	HGS	77278006	1.000000	0.71417	0.904000	0.35570	0.016000	0.09150	7.012000	0.76366	1.964000	0.57103	0.482000	0.46254	TAC		0.706	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1		NM_004712	
HPGD	3248	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	175443219	175443219	+	Splice_Site	SNP	C	C	A			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr4:175443219C>A	ENST00000296522.6	-	2	540		c.e2-1		HPGD_ENST00000510901.1_Splice_Site|HPGD_ENST00000296521.7_Splice_Site|HPGD_ENST00000504433.1_Splice_Site|HPGD_ENST00000541923.1_Splice_Site|HPGD_ENST00000542498.1_Splice_Site|HPGD_ENST00000422112.2_Splice_Site|RP11-440I14.2_ENST00000515178.1_lincRNA	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)						arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|ductus arteriosus closure (GO:0097070)|female pregnancy (GO:0007565)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|ovulation (GO:0030728)|parturition (GO:0007567)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|thrombin receptor signaling pathway (GO:0070493)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|catalytic activity (GO:0003824)|NAD binding (GO:0051287)|NAD+ binding (GO:0070403)|prostaglandin E receptor activity (GO:0004957)|protein homodimerization activity (GO:0042803)	p.?(1)		kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)		CCAGCGCTACCTATAGACAAG	0.507																																																	1	Unknown(1)	kidney(1)											102.0	104.0	103.0					4																	175443219		2203	4300	6503	SO:0001630	splice_region_variant	3248				CCDS3821.1, CCDS54821.1, CCDS58933.1, CCDS58934.1, CCDS58935.1	4q34-q35	2011-09-14			ENSG00000164120	ENSG00000164120	1.1.1.141	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	5154	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 36C, member 1"""	601688				19027726	Standard	NM_000860		Approved	SDR36C1	uc003itu.3	P15428	OTTHUMG00000160772	ENST00000296522.6:c.94-1G>T	4.37:g.175443219C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998	Splice_Site	SNP	ENST00000296522.6	37	CCDS3821.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.821667	0.71028	.	.	ENSG00000164120	ENST00000296522;ENST00000296521;ENST00000422112;ENST00000542498;ENST00000504433	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6596	0.88188	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HPGD	175679794	1.000000	0.71417	0.995000	0.50966	0.825000	0.46686	6.442000	0.73443	2.459000	0.83118	0.462000	0.41574	.		0.507	HPGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362228.3			Intron
KCNJ3	3760	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	155555495	155555495	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr2:155555495G>T	ENST00000295101.2	+	1	685	c.208G>T	c.(208-210)Gac>Tac	p.D70Y	KCNJ3_ENST00000544049.1_Missense_Mutation_p.D70Y|AC061961.2_ENST00000443901.1_RNA	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	70					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.D70Y(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CTACCTCTCGGACCTCTTCAC	0.592																																																	1	Substitution - Missense(1)	kidney(1)											115.0	111.0	112.0					2																	155555495		2203	4300	6503	SO:0001583	missense	3760			U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.208G>T	2.37:g.155555495G>T	ENSP00000295101:p.Asp70Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524647	0.64747	.	.	ENSG00000162989	ENST00000295101;ENST00000544049	D;D	0.97186	-4.28;-4.28	5.16	4.26	0.50523	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.044697	0.85682	D	0.000000	D	0.99036	0.9670	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99016	1.0816	10	0.87932	D	0	.	14.1885	0.65623	0.0:0.1512:0.8488:0.0	.	70;70	B4DEW7;P48549	.;IRK3_HUMAN	Y	70	ENSP00000295101:D70Y;ENSP00000438410:D70Y	ENSP00000295101:D70Y	D	+	1	0	KCNJ3	155263741	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.933000	0.87642	1.130000	0.42092	0.555000	0.69702	GAC		0.592	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2		NM_002239	
LRCH2	57631	broad.mit.edu;hgsc.bcm.edu	37	X	114398272	114398272	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chrX:114398272G>T	ENST00000317135.8	-	11	1460	c.1430C>A	c.(1429-1431)gCt>gAt	p.A477D	LRCH2_ENST00000538422.1_Missense_Mutation_p.A477D	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	477								p.A477D(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TAACTGAGCAGCTATTTTCCT	0.333																																																	2	Substitution - Missense(2)	kidney(2)											149.0	118.0	128.0					X																	114398272		1870	4091	5961	SO:0001583	missense	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.1430C>A	X.37:g.114398272G>T	ENSP00000325091:p.Ala477Asp	Somatic		WXS	Illumina HiSeq	Phase_I	F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	ENST00000317135.8	37	CCDS48155.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362541	0.82353	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	D;T	0.83992	-1.79;5.36	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.89019	0.6596	L	0.58101	1.795	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.956	D	0.88490	0.3075	10	0.40728	T	0.16	-8.9958	16.1382	0.81506	0.0:0.0:1.0:0.0	.	477;477	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	D	477	ENSP00000325091:A477D;ENSP00000439366:A477D	ENSP00000325091:A477D	A	-	2	0	LRCH2	114304528	1.000000	0.71417	0.937000	0.37676	0.928000	0.56348	8.791000	0.91849	2.111000	0.64477	0.422000	0.28245	GCT		0.333	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2		NM_020871	
LRRK1	79705	broad.mit.edu;hgsc.bcm.edu	37	15	101528945	101528945	+	Silent	SNP	G	G	A	rs200144474		TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr15:101528945G>A	ENST00000388948.3	+	5	899	c.540G>A	c.(538-540)ccG>ccA	p.P180P	LRRK1_ENST00000284395.5_Silent_p.P177P|LRRK1_ENST00000532029.2_Silent_p.P180P	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.P180P(1)|p.P153P(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGGCTGACCCGGAGAGCTACG	0.617																																																	2	Substitution - coding silent(2)	kidney(2)											58.0	62.0	61.0					15																	101528945		2047	4182	6229	SO:0001819	synonymous_variant	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.540G>A	15.37:g.101528945G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000388948.3	37	CCDS42086.1																																																																																				0.617	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2		NM_024652	
MSH6	2956	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	48026389	48026389	+	Missense_Mutation	SNP	C	C	A	rs587781657		TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr2:48026389C>A	ENST00000234420.5	+	4	1419	c.1267C>A	c.(1267-1269)Ctt>Att	p.L423I	MSH6_ENST00000538136.1_Missense_Mutation_p.L121I|MSH6_ENST00000540021.1_Missense_Mutation_p.L293I|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	423					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.L423I(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAACTTTGATCTTGTCATCTG	0.438			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	3	Whole gene deletion(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(2)|kidney(1)											130.0	124.0	126.0					2																	48026389		2203	4300	6503	SO:0001583	missense	2956	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1267C>A	2.37:g.48026389C>A	ENSP00000234420:p.Leu423Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	8.940	0.965592	0.18583	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.88975	-2.45;-2.45;-2.45	4.63	3.76	0.43208	DNA mismatch repair protein MutS, N-terminal (2);DNA mismatch repair protein MutS-like, N-terminal (1);	0.336412	0.30076	N	0.010467	T	0.77398	0.4124	N	0.14661	0.345	0.80722	D	1	P;B;B	0.35383	0.498;0.257;0.087	B;B;B	0.41666	0.326;0.216;0.363	T	0.68716	-0.5335	10	0.20046	T	0.44	-10.8994	1.9644	0.03393	0.153:0.5004:0.1694:0.1771	.	293;423;423	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	I	423;421;293;121	ENSP00000234420:L423I;ENSP00000446475:L293I;ENSP00000438580:L121I	ENSP00000234420:L423I	L	+	1	0	MSH6	47879893	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	1.453000	0.35167	1.183000	0.42943	-0.140000	0.14226	CTT		0.438	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4		NM_000179	
MTOR	2475	broad.mit.edu;hgsc.bcm.edu	37	1	11190694	11190694	+	Silent	SNP	G	G	A			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr1:11190694G>A	ENST00000361445.4	-	39	5581	c.5505C>T	c.(5503-5505)gcC>gcT	p.A1835A	MTOR_ENST00000495435.1_5'Flank|MTOR_ENST00000376838.1_Silent_p.A40A	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1835	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.A1835A(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	tggcagtggcggccgtggtgg	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											83.0	62.0	69.0					1																	11190694		2203	4300	6503	SO:0001819	synonymous_variant	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5505C>T	1.37:g.11190694G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	CCDS127.1																																																																																				0.627	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1		NM_004958	
NPHP4	261734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	5934998	5934998	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr1:5934998C>G	ENST00000378156.4	-	21	3245	c.2980G>C	c.(2980-2982)Gtg>Ctg	p.V994L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	994					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.V994L(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTTAAGCACAAACTCAAAG	0.632																																																	1	Substitution - Missense(1)	kidney(1)											91.0	110.0	104.0					1																	5934998		2146	4243	6389	SO:0001583	missense	261734			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2980G>C	1.37:g.5934998C>G	ENSP00000367398:p.Val994Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	c	11.15	1.553207	0.27739	.	.	ENSG00000131697	ENST00000378156	D	0.86769	-2.17	4.95	4.04	0.47022	.	0.242197	0.33854	N	0.004498	T	0.80623	0.4658	L	0.34521	1.04	0.26577	N	0.973453	B	0.29988	0.264	B	0.31101	0.124	T	0.70615	-0.4823	10	0.36615	T	0.2	.	12.5574	0.56261	0.0:0.9192:0.0:0.0808	.	994	O75161	NPHP4_HUMAN	L	994	ENSP00000367398:V994L	ENSP00000367398:V994L	V	-	1	0	NPHP4	5857585	0.808000	0.29022	0.039000	0.18376	0.038000	0.13279	2.436000	0.44819	1.092000	0.41356	-0.309000	0.09137	GTG		0.632	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			
NFASC	23114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	204971841	204971841	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr1:204971841T>C	ENST00000401399.1	+	26	3453	c.3254T>C	c.(3253-3255)aTc>aCc	p.I1085T	NFASC_ENST00000539706.1_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.I1177T|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367170.4_Missense_Mutation_p.I1113T|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000367172.4_Missense_Mutation_p.I1192T|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000339876.6_Missense_Mutation_p.I1085T|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000338586.6_Missense_Mutation_p.I1069T|NFASC_ENST00000404076.1_Intron			O94856	NFASC_HUMAN	neurofascin	1192	Thr-rich.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.I1085T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AACGAGGGCATCAGCAGTACC	0.552																																																	1	Substitution - Missense(1)	kidney(1)											84.0	77.0	79.0					1																	204971841		1568	3582	5150	SO:0001583	missense	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3254T>C	1.37:g.204971841T>C	ENSP00000385637:p.Ile1085Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.833386	0.50951	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000339876;ENST00000338586;ENST00000401399	T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;1.58;0.45	5.63	5.63	0.86233	.	0.538057	0.16630	N	0.206114	T	0.34395	0.0896	N	0.12887	0.27	0.80722	D	1	B;B	0.22414	0.0;0.069	B;B	0.21360	0.004;0.034	T	0.16630	-1.0396	10	0.23302	T	0.38	.	12.309	0.54918	0.0:0.0:0.1409:0.8591	.	1069;1085	F8W8X7;O94856-9	.;.	T	1192;1177;1113;1085;1069;1085	ENSP00000356140:I1192T;ENSP00000356139:I1177T;ENSP00000356138:I1113T;ENSP00000344786:I1085T;ENSP00000343509:I1069T;ENSP00000385637:I1085T	ENSP00000343509:I1069T	I	+	2	0	NFASC	203238464	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.513000	0.60476	2.145000	0.66743	0.533000	0.62120	ATC		0.552	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1		NM_001005388	
NUP205	23165	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	135261060	135261060	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr7:135261060T>C	ENST00000285968.6	+	4	412	c.386T>C	c.(385-387)tTa>tCa	p.L129S	NUP205_ENST00000440390.2_5'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	129					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.L129S(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ACCAGAGGATTAGTAGCTGTT	0.423																																																	1	Substitution - Missense(1)	kidney(1)											152.0	147.0	149.0					7																	135261060		2203	4300	6503	SO:0001583	missense	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.386T>C	7.37:g.135261060T>C	ENSP00000285968:p.Leu129Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.719252	0.89205	.	.	ENSG00000155561	ENST00000285968	T	0.32988	1.43	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	T	0.56307	0.1976	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55592	-0.8117	10	0.32370	T	0.25	-7.0314	15.6744	0.77303	0.0:0.0:0.0:1.0	.	129	Q92621	NU205_HUMAN	S	129	ENSP00000285968:L129S	ENSP00000285968:L129S	L	+	2	0	NUP205	134911600	0.999000	0.42202	0.986000	0.45419	0.993000	0.82548	7.993000	0.88291	2.146000	0.66826	0.482000	0.46254	TTA		0.423	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			
PACSIN1	29993	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	34499375	34499375	+	Splice_Site	SNP	A	A	C			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr6:34499375A>C	ENST00000538621.1	+	9	1282		c.e9-1		PACSIN1_ENST00000244458.2_Splice_Site|PACSIN1_ENST00000374043.2_Splice_Site	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1						actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						TCCGCGTCTCAGTGTTAGCAG	0.612																																																	1	Unknown(1)	kidney(1)											74.0	75.0	74.0					6																	34499375		2202	4300	6502	SO:0001630	splice_region_variant	29993			AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.1038-1A>C	6.37:g.34499375A>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q9P2G8	Splice_Site	SNP	ENST00000538621.1	37	CCDS4793.1	.	.	.	.	.	.	.	.	.	.	A	36	5.818094	0.96982	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4328	0.67261	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PACSIN1	34607353	1.000000	0.71417	0.103000	0.21229	0.921000	0.55340	8.723000	0.91458	2.088000	0.63022	0.459000	0.35465	.		0.612	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			Intron
PCDHA6	56142	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140209867	140209867	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr5:140209867G>A	ENST00000529310.1	+	1	2305	c.2191G>A	c.(2191-2193)Gcg>Acg	p.A731T	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	731					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A731T(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGAGGGCGCGTGCACGGC	0.692																																																	2	Substitution - Missense(2)	kidney(2)											45.0	45.0	45.0					5																	140209867		2203	4298	6501	SO:0001583	missense	56142			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2191G>A	5.37:g.140209867G>A	ENSP00000433378:p.Ala731Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	8.101	0.776736	0.16120	.	.	ENSG00000081842	ENST00000529310	T	0.12672	2.66	4.12	4.12	0.48240	.	0.910321	0.08935	U	0.872482	T	0.16811	0.0404	L	0.56124	1.755	0.21290	N	0.99974	B;B	0.24576	0.106;0.006	B;B	0.18561	0.022;0.004	T	0.12016	-1.0564	10	0.29301	T	0.29	.	14.7333	0.69399	0.0:0.0:1.0:0.0	.	731;731	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	T	731	ENSP00000433378:A731T	ENSP00000433378:A731T	A	+	1	0	PCDHA6	140190051	0.096000	0.21769	0.987000	0.45799	0.170000	0.22686	1.819000	0.39022	2.305000	0.77605	0.306000	0.20318	GCG		0.692	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3		NM_018909	
PLEKHA7	144100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	16838611	16838611	+	Silent	SNP	G	G	A			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr11:16838611G>A	ENST00000355661.3	-	11	1612	c.1602C>T	c.(1600-1602)caC>caT	p.H534H	PLEKHA7_ENST00000448080.2_Silent_p.H534H|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.H534H			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	534					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)	p.H534H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGGGGCTGCCGTGCCGGAACT	0.677																																																	1	Substitution - coding silent(1)	kidney(1)																																								SO:0001819	synonymous_variant	144100			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1602C>T	11.37:g.16838611G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DK33|B4DWC3|Q86VZ7	Silent	SNP	ENST00000355661.3	37	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	G	6.224	0.409490	0.11812	.	.	ENSG00000166689	ENST00000530489	.	.	.	5.1	-3.64	0.04515	.	.	.	.	.	T	0.57330	0.2046	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56938	-0.7896	4	.	.	.	-25.1936	12.5111	0.56005	0.635:0.0:0.365:0.0	.	.	.	.	M	165	.	.	T	-	2	0	PLEKHA7	16795187	0.727000	0.28069	0.965000	0.40720	0.644000	0.38419	-0.074000	0.11450	-0.731000	0.04862	-1.008000	0.02478	ACG		0.677	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2		NM_175058	
PPM1L	151742	hgsc.bcm.edu	37	3	160783277	160783277	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr3:160783277delG	ENST00000498165.1	+	3	762	c.661delG	c.(661-663)gatfs	p.D221fs	PPM1L_ENST00000295839.9_Frame_Shift_Del_p.D94fs|PPM1L_ENST00000464260.1_Frame_Shift_Del_p.D42fs|PPM1L_ENST00000480117.1_3'UTR	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	221	PP2C-like.				MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GTGTGACAAAGATGGGAACGC	0.473																																					Pancreas(86;250 1994 13715 43211)												0													120.0	113.0	115.0					3																	160783277		2203	4300	6503	SO:0001589	frameshift_variant	151742			AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	16381	protein-coding gene	gene with protein product	"""PP2Cepsilon"", ""Protein phosphatase 2C epsilon isoform"""	611931	"""protein phosphatase 1 (formerly 2C)-like"""			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.661delG	3.37:g.160783277delG	ENSP00000417659:p.Asp221fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M3J2|Q96NM7	Frame_Shift_Del	DEL	ENST00000498165.1	37	CCDS33886.1																																																																																				0.473	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1		NM_139245	
PTCHD2	57540	hgsc.bcm.edu	37	1	11589932	11589933	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr1:11589932_11589933insA	ENST00000294484.6	+	15	3156_3157	c.3018_3019insA	c.(3019-3021)accfs	p.T1007fs	PTCHD2_ENST00000389575.3_Frame_Shift_Ins_p.T1007fs	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1007					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CACTAGTGGATACCGGGGCCAT	0.644																																																	0																																										SO:0001589	frameshift_variant	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3019dupA	1.37:g.11589933_11589933dupA	ENSP00000294484:p.Thr1007fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VTU9|Q9UJD6	Frame_Shift_Ins	INS	ENST00000294484.6	37	CCDS41247.1																																																																																				0.644	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2		XM_052561	
PTPRB	5787	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	70965011	70965011	+	Silent	SNP	C	C	T			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr12:70965011C>T	ENST00000261266.5	-	11	2540	c.2511G>A	c.(2509-2511)gtG>gtA	p.V837V	PTPRB_ENST00000334414.6_Silent_p.V1055V|PTPRB_ENST00000538708.1_Silent_p.V837V|PTPRB_ENST00000451516.2_Silent_p.V747V|PTPRB_ENST00000551525.1_Silent_p.V1054V|PTPRB_ENST00000550857.1_Silent_p.V747V|PTPRB_ENST00000550358.1_Silent_p.V967V	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	837	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V837V(2)|p.V1055V(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTGACCAAGTCACATGCAAGT	0.438																																																	3	Substitution - coding silent(3)	kidney(3)											95.0	88.0	90.0					12																	70965011		1991	4177	6168	SO:0001819	synonymous_variant	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2511G>A	12.37:g.70965011C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	CCDS44944.1																																																																																				0.438	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			
RIMS1	22999	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	72974723	72974723	+	Silent	SNP	A	A	G			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr6:72974723A>G	ENST00000521978.1	+	20	3162	c.3162A>G	c.(3160-3162)ttA>ttG	p.L1054L	RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000264839.7_Silent_p.L1054L|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000523963.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1054					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.L1054L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGATGCCTTTATTACAGAGCA	0.378																																																	1	Substitution - coding silent(1)	kidney(1)											47.0	44.0	45.0					6																	72974723		1840	4088	5928	SO:0001819	synonymous_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3162A>G	6.37:g.72974723A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	CCDS47449.1																																																																																				0.378	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			
RRP12	23223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99116876	99116876	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr10:99116876T>C	ENST00000370992.4	-	34	3980	c.3869A>G	c.(3868-3870)aAc>aGc	p.N1290S	RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.N1229S|RRP12_ENST00000536831.1_Missense_Mutation_p.N1008S|RRP12_ENST00000315563.6_Missense_Mutation_p.N1190S	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1290						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.N1290S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CTTTCTGCGGTTTTTGTGTCC	0.637																																																	1	Substitution - Missense(1)	kidney(1)											98.0	93.0	95.0					10																	99116876		2203	4300	6503	SO:0001583	missense	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3869A>G	10.37:g.99116876T>C	ENSP00000360031:p.Asn1290Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.384229	0.42308	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.29397	1.57;1.58;1.58;1.58	5.4	2.93	0.34026	.	0.492047	0.21682	N	0.070711	T	0.19525	0.0469	L	0.37630	1.12	0.22266	N	0.999249	B;B;B;B	0.17667	0.01;0.009;0.023;0.002	B;B;B;B	0.17098	0.004;0.014;0.017;0.004	T	0.27297	-1.0078	10	0.08381	T	0.77	-4.7268	8.4929	0.33110	0.44:0.0:0.0:0.56	.	1229;1190;1008;1290	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	S	1290;1190;1229;1008	ENSP00000360031:N1290S;ENSP00000324315:N1190S;ENSP00000414863:N1229S;ENSP00000446184:N1008S	ENSP00000324315:N1190S	N	-	2	0	RRP12	99106866	1.000000	0.71417	0.978000	0.43139	0.830000	0.47004	2.133000	0.42093	0.875000	0.35847	-0.527000	0.04329	AAC		0.637	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4		NM_015179	
SALL1	6299	hgsc.bcm.edu;ucsc.edu	37	16	51175662	51175662	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr16:51175662G>C	ENST00000251020.4	-	2	504	c.471C>G	c.(469-471)agC>agG	p.S157R	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.S60R|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	157	Poly-Ser.				adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			cgccgctgctgctgctgctgc	0.637																																					GBM(103;1352 1446 1855 4775 8890)												0													21.0	25.0	24.0					16																	51175662		2179	4268	6447	SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.471C>G	16.37:g.51175662G>C	ENSP00000251020:p.Ser157Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.720876	0.00092	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06068	3.35;3.35	0.225	0.225	0.15325	.	0.410124	0.18238	U	0.147338	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43278	-0.9401	9	0.31617	T	0.26	.	.	.	.	.	157	Q9NSC2	SALL1_HUMAN	R	157;60;121	ENSP00000251020:S157R;ENSP00000407914:S60R	ENSP00000251020:S157R	S	-	3	2	SALL1	49733163	0.257000	0.24022	0.008000	0.14137	0.003000	0.03518	0.431000	0.21444	0.300000	0.22699	0.305000	0.20034	AGC		0.637	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2		NM_002968	
SLC2A5	6518	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	9118229	9118229	+	Silent	SNP	A	A	T			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr1:9118229A>T	ENST00000377424.4	-	2	293	c.114T>A	c.(112-114)gcT>gcA	p.A38A	SLC2A5_ENST00000535586.1_Intron|SLC2A5_ENST00000377414.3_Silent_p.A38A	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	38					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)	p.A38A(2)		endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAGTTGACAGCAGCCACGT	0.592																																																	2	Substitution - coding silent(2)	kidney(2)											92.0	72.0	79.0					1																	9118229		2203	4300	6503	SO:0001819	synonymous_variant	6518			BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.114T>A	1.37:g.9118229A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q14770|Q5T977|Q8IVB3	Silent	SNP	ENST00000377424.4	37	CCDS99.1																																																																																				0.592	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1		NM_003039	
SLC6A14	11254	hgsc.bcm.edu	37	X	115572174	115572175	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chrX:115572174_115572175insG	ENST00000371900.4	+	3	343_344	c.255_256insG	c.(256-258)ggtfs	p.G86fs		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	86					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TAGCATTGGCTGGTTTACCTTT	0.406																																																	0																																										SO:0001589	frameshift_variant	11254			AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.257dupG	X.37:g.115572176_115572176dupG	ENSP00000360967:p.Gly86fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q5H942	Frame_Shift_Ins	INS	ENST00000371900.4	37	CCDS14570.1																																																																																				0.406	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			
SLITRK6	84189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	86370342	86370342	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr13:86370342G>A	ENST00000400286.2	-	2	900	c.302C>T	c.(301-303)gCa>gTa	p.A101V		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	101					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.A101V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTCAATATCTGCAATATTGTT	0.353																																																	1	Substitution - Missense(1)	kidney(1)											156.0	144.0	148.0					13																	86370342		1853	4091	5944	SO:0001583	missense	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.302C>T	13.37:g.86370342G>A	ENSP00000383143:p.Ala101Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	8.716	0.913216	0.17907	.	.	ENSG00000184564	ENST00000400286	T	0.51325	0.71	6.17	5.16	0.70880	.	0.184572	0.48767	D	0.000170	T	0.36026	0.0952	N	0.25825	0.765	0.45995	D	0.998806	B	0.09022	0.002	B	0.06405	0.002	T	0.06661	-1.0814	10	0.32370	T	0.25	-20.423	15.1927	0.73060	0.0791:0.0:0.9209:0.0	.	101	Q9H5Y7	SLIK6_HUMAN	V	101	ENSP00000383143:A101V	ENSP00000383143:A101V	A	-	2	0	SLITRK6	85268343	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.437000	0.44828	2.941000	0.99782	0.655000	0.94253	GCA		0.353	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2		NM_032229	
TCERG1L	256536	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	132965070	132965070	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr10:132965070T>A	ENST00000368642.4	-	5	1020	c.935A>T	c.(934-936)aAa>aTa	p.K312I		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	312								p.K271I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CTTGTCTTCTTTGTCTCCATC	0.592																																																	1	Substitution - Missense(1)	kidney(1)											89.0	69.0	76.0					10																	132965070		2203	4300	6503	SO:0001583	missense	256536			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.935A>T	10.37:g.132965070T>A	ENSP00000357631:p.Lys312Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	T	8.379	0.837130	0.16891	.	.	ENSG00000176769	ENST00000368642	T	0.25250	1.81	2.4	-0.0119	0.13991	.	1.111840	0.06948	N	0.814067	T	0.17152	0.0412	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.30995	-0.9959	10	0.42905	T	0.14	-1.7807	4.5047	0.11881	0.0:0.3155:0.0:0.6845	.	312	Q5VWI1	TCRGL_HUMAN	I	312	ENSP00000357631:K312I	ENSP00000357631:K312I	K	-	2	0	TCERG1L	132855060	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.040000	0.12104	-0.016000	0.14127	0.460000	0.39030	AAA		0.592	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2		NM_174937	
TERT	7015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	1272327	1272327	+	Silent	SNP	C	C	A	rs545260840		TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr5:1272327C>A	ENST00000310581.5	-	7	2412	c.2355G>T	c.(2353-2355)ccG>ccT	p.P785P	TERT_ENST00000508104.2_Intron|TERT_ENST00000296820.5_Intron|TERT_ENST00000334602.6_Silent_p.P785P	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	785	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.		P -> L (in AA susceptibility). {ECO:0000269|PubMed:19760749}.		DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)	p.P773P(2)|p.P785P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CATCCCTCAGCGGGCTGGTCT	0.642									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																								3	Substitution - coding silent(3)	kidney(2)|upper_aerodigestive_tract(1)											30.0	36.0	34.0					5																	1272327		2059	4180	6239	SO:0001819	synonymous_variant	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2355G>T	5.37:g.1272327C>A		Somatic		WXS	Illumina HiSeq	Phase_I	O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	ENST00000310581.5	37	CCDS3861.2																																																																																				0.642	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			
TGM5	9333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43552389	43552389	+	Silent	SNP	G	G	A			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr15:43552389G>A	ENST00000220420.5	-	3	304	c.297C>T	c.(295-297)tcC>tcT	p.S99S	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	99					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.S99S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TCACCTCTGTGGAGGTGGCCC	0.647																																																	1	Substitution - coding silent(1)	kidney(1)											49.0	56.0	53.0					15																	43552389		2202	4299	6501	SO:0001819	synonymous_variant	9333			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.297C>T	15.37:g.43552389G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O43549|Q0VF40|Q9UEZ4	Silent	SNP	ENST00000220420.5	37	CCDS32212.1																																																																																				0.647	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1		NM_004245	
THAP11	57215	hgsc.bcm.edu	37	16	67876820	67876820	+	Silent	SNP	G	G	A			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr16:67876820G>A	ENST00000303596.1	+	1	608	c.363G>A	c.(361-363)caG>caA	p.Q121Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	121	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcagcagcaacagcagc	0.677																																																	0													28.0	33.0	31.0					16																	67876820		1970	3892	5862	SO:0001819	synonymous_variant	57215			AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.363G>A	16.37:g.67876820G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A4UCT5|A8K002|O94795	Silent	SNP	ENST00000303596.1	37	CCDS10847.1																																																																																				0.677	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1		NM_020457	
TTLL4	9654	hgsc.bcm.edu	37	2	219609933	219609934	+	Frame_Shift_Ins	INS	-	-	T	rs574453999		TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr2:219609933_219609934insT	ENST00000392102.1	+	6	2103_2104	c.1763_1764insT	c.(1762-1767)tattttfs	p.YF588fs	TTLL4_ENST00000442769.1_Frame_Shift_Ins_p.YF588fs|TTLL4_ENST00000457313.1_Frame_Shift_Ins_p.YF423fs|TTLL4_ENST00000258398.4_Frame_Shift_Ins_p.YF588fs	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	588					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CCTACCATCTATTTTGGCACTC	0.52																																					GBM(172;1818 2053 15407 20943 49753)												0																																										SO:0001589	frameshift_variant	9654				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.1767dupT	2.37:g.219609937_219609937dupT	ENSP00000375951:p.Tyr588fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6V5|Q8WW29	Frame_Shift_Ins	INS	ENST00000392102.1	37	CCDS2422.1																																																																																				0.520	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1		NM_014640	
TULP3	7289	hgsc.bcm.edu;ucsc.edu	37	12	3031528	3031528	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr12:3031528delT	ENST00000448120.2	+	4	405	c.354delT	c.(352-354)actfs	p.T118fs	TULP3_ENST00000397132.2_Frame_Shift_Del_p.T118fs	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	118					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CCGTGGATACTGCTTCCAAGC	0.453																																																	0													131.0	119.0	123.0					12																	3031528		2203	4300	6503	SO:0001589	frameshift_variant	7289			AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"""Intraflagellar transport homologs"""	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.354delT	12.37:g.3031528delT	ENSP00000410051:p.Thr118fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Frame_Shift_Del	DEL	ENST00000448120.2	37	CCDS8519.1																																																																																				0.453	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1		NM_003324	
UNC5C	8633	broad.mit.edu;hgsc.bcm.edu	37	4	96127874	96127874	+	Missense_Mutation	SNP	G	G	T	rs139568380	byFrequency	TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr4:96127874G>T	ENST00000453304.1	-	11	2155	c.1807C>A	c.(1807-1809)Cgc>Agc	p.R603S		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	603	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.R603S(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ACGACTGGGCGGGTGAGCAGA	0.582																																																	1	Substitution - Missense(1)	kidney(1)											68.0	63.0	65.0					4																	96127874		2203	4300	6503	SO:0001583	missense	8633			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1807C>A	4.37:g.96127874G>T	ENSP00000406022:p.Arg603Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758780	0.49468	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796	T;T	0.41758	0.99;0.99	5.28	5.28	0.74379	ZU5 (3);	0.000000	0.85682	D	0.000000	T	0.59004	0.2162	L	0.51914	1.62	0.80722	D	1	D;D	0.67145	0.988;0.996	P;D	0.65140	0.875;0.932	T	0.57219	-0.7849	10	0.48119	T	0.1	.	19.2637	0.93979	0.0:0.0:1.0:0.0	.	603;603	A8K385;O95185	.;UNC5C_HUMAN	S	603;562;622	ENSP00000406022:R603S;ENSP00000426924:R622S	ENSP00000328673:R562S	R	-	1	0	UNC5C	96346897	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	4.829000	0.62737	2.611000	0.88343	0.563000	0.77884	CGC		0.582	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1		NM_003728	
WASF3	10810	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	27246116	27246116	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr13:27246116G>T	ENST00000335327.5	+	6	708	c.530G>T	c.(529-531)aGg>aTg	p.R177M	WASF3_ENST00000361042.4_Missense_Mutation_p.R177M|WASF3_ENST00000496788.1_3'UTR	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	177					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)		p.R177M(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		AAAGAGAAAAGGCGTCAAAAG	0.338																																																	1	Substitution - Missense(1)	kidney(1)											75.0	74.0	74.0					13																	27246116		2203	4300	6503	SO:0001583	missense	10810			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.530G>T	13.37:g.27246116G>T	ENSP00000335055:p.Arg177Met	Somatic		WXS	Illumina HiSeq	Phase_I	O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570714	0.86542	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.54071	0.59;0.59	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.80032	-0.1552	10	0.72032	D	0.01	-22.8345	18.6083	0.91275	0.0:0.0:1.0:0.0	.	177;177	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	M	177	ENSP00000354325:R177M;ENSP00000335055:R177M	ENSP00000335055:R177M	R	+	2	0	WASF3	26144116	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.236000	0.95360	2.403000	0.81681	0.650000	0.86243	AGG		0.338	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			
ZNF480	147657	hgsc.bcm.edu	37	19	52803670	52803671	+	Frame_Shift_Del	DEL	TG	TG	-	rs398035013|rs143152542|rs145046422|rs3217319	byFrequency	TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr19:52803670_52803671delTG	ENST00000595962.1	+	2	71_72	c.5_6delTG	c.(4-6)ctgfs	p.L2fs	ZNF480_ENST00000335090.6_5'UTR|ZNF480_ENST00000334564.7_Frame_Shift_Del_p.L2fs|CTD-2525I3.6_ENST00000594379.1_RNA|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF480_ENST00000490272.1_Frame_Shift_Del_p.L2fs	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		AGAGTCATGCTGTGTGATGAAA	0.436														3000	0.599042	0.3177	0.6499	5008	,	,		22207	0.6409		0.7386	False		,,,				2504	0.7566																0										1714,2550		339,1036,757						-0.1	0.0		dbSNP_106	115	5965,2289		2175,1615,337	no	frameshift	ZNF480	NM_144684.2		2514,2651,1094	A1A1,A1R,RR		27.732,40.197,38.6563				7679,4839				SO:0001589	frameshift_variant	147657			AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.5_6delTG	19.37:g.52803674_52803675delTG	ENSP00000471754:p.Leu2fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JPG9|Q6P0Q4|Q8N1M5	Frame_Shift_Del	DEL	ENST00000595962.1	37	CCDS12850.2																																																																																				0.436	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3		NM_144684	
ZNF714	148206	hgsc.bcm.edu	37	19	21300833	21300835	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	GAA	GAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr19:21300833_21300835delGAA	ENST00000596143.1	+	5	1688_1690	c.1363_1365delGAA	c.(1363-1365)gaadel	p.E456del	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						CTACAAATGTGAAGAATGTGGCA	0.369																																																	0																																										SO:0001651	inframe_deletion	148206			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.1363_1365delGAA	19.37:g.21300836_21300838delGAA	ENSP00000472368:p.Glu456del	Somatic		WXS	Illumina HiSeq	Phase_I	Q49AI1|Q86W65|Q8ND40	In_Frame_Del	DEL	ENST00000596143.1	37	CCDS54239.1																																																																																				0.369	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1		NM_182515	
KIAA0930	23313	broad.mit.edu	37	22	45601765	45601765	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr22:45601765A>C	ENST00000336156.5	-	3	310	c.245T>G	c.(244-246)gTg>gGg	p.V82G	KIAA0930_ENST00000391627.2_Missense_Mutation_p.V48G|KIAA0930_ENST00000251993.7_Missense_Mutation_p.V87G|KIAA0930_ENST00000443310.3_Missense_Mutation_p.V64G	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	82								p.V87G(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						CCGCCGGTACACCTCCACCTC	0.612																																																	1	Substitution - Missense(1)	kidney(1)											62.0	59.0	60.0					22																	45601765		2203	4300	6503	SO:0001583	missense	0			AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.245T>G	22.37:g.45601765A>C	ENSP00000336720:p.Val82Gly	Somatic		WXS	Illumina GAIIx	Phase_I	B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600735	0.87055	.	.	ENSG00000100364	ENST00000336156;ENST00000251993;ENST00000391627;ENST00000443310;ENST00000414854;ENST00000424508	.	.	.	4.22	4.22	0.49857	.	0.192306	0.44483	D	0.000447	T	0.78142	0.4237	M	0.77486	2.375	0.80722	D	1	D;D;P;D	0.76494	0.999;0.961;0.928;0.991	D;P;B;P	0.81914	0.995;0.651;0.44;0.864	T	0.81538	-0.0887	9	0.72032	D	0.01	-21.2036	13.6402	0.62246	1.0:0.0:0.0:0.0	.	64;82;87;153	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	G	82;87;48;64;48;64	.	ENSP00000251993:V87G	V	-	2	0	KIAA0930	43980429	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	8.624000	0.90961	1.704000	0.51252	0.459000	0.35465	GTG		0.612	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2		NM_001009880	
C7	730	broad.mit.edu	37	5	40959677	40959677	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr5:40959677C>T	ENST00000313164.9	+	12	1975	c.1616C>T	c.(1615-1617)aCg>aTg	p.T539M		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	539	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.T539M(1)					Ovarian(839;0.0112)				GTTGGAGAAACGACAGAAAGC	0.542																																																	1	Substitution - Missense(1)	kidney(1)											70.0	79.0	76.0					5																	40959677		2005	4179	6184	SO:0001583	missense	730			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1616C>T	5.37:g.40959677C>T	ENSP00000322061:p.Thr539Met	Somatic		WXS	Illumina GAIIx	Phase_I	Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091574	0.36952	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.54675	0.56	5.4	5.4	0.78164	.	1.311320	0.04932	N	0.457025	T	0.67496	0.2899	L	0.52266	1.64	0.09310	N	1	D	0.63880	0.993	P	0.57846	0.828	T	0.58736	-0.7584	10	0.48119	T	0.1	0.0112	14.9329	0.70929	0.152:0.848:0.0:0.0	.	539	P10643	CO7_HUMAN	M	539;379	ENSP00000322061:T539M	ENSP00000322061:T539M	T	+	2	0	C7	40995434	0.000000	0.05858	0.031000	0.17742	0.117000	0.20001	1.112000	0.31172	2.538000	0.85594	0.462000	0.41574	ACG		0.542	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			
CNTNAP4	85445	broad.mit.edu	37	16	76486631	76486631	+	Missense_Mutation	SNP	A	A	C	rs150449060		TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr16:76486631A>C	ENST00000476707.1	+	7	1446	c.1307A>C	c.(1306-1308)tAc>tCc	p.Y436S	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.Y360S|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.Y432S|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.Y384S			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	433	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.Y408S(1)|p.Y360S(1)|p.Y432S(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TCGAATCTCTACCAGCCAGGA	0.433																																																	3	Substitution - Missense(3)	kidney(3)											42.0	43.0	43.0					16																	76486631		2198	4300	6498	SO:0001583	missense	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1307A>C	16.37:g.76486631A>C	ENSP00000417628:p.Tyr436Ser	Somatic		WXS	Illumina GAIIx	Phase_I	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	A	9.057	0.993638	0.19043	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.43	-5.64	0.02466	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.414840	0.05049	N	0.477704	T	0.53367	0.1792	.	.	.	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.0;0.004;0.0;0.001	T	0.36335	-0.9752	9	0.19590	T	0.45	.	8.5598	0.33503	0.2896:0.1725:0.0:0.538	.	360;436;408;433	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	S	432;384;360;436	ENSP00000306893:Y432S;ENSP00000439733:Y384S;ENSP00000418741:Y360S;ENSP00000417628:Y436S	ENSP00000306893:Y432S	Y	+	2	0	CNTNAP4	75044132	0.050000	0.20438	0.706000	0.30403	0.985000	0.73830	0.076000	0.14712	-0.785000	0.04522	-0.291000	0.09656	TAC		0.433	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1		NM_033401	
USP17L2	377630	broad.mit.edu	37	8	11995803	11995803	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr8:11995803C>T	ENST00000333796.3	-	1	783	c.467G>A	c.(466-468)gGc>gAc	p.G156D	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	156	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G156D(1)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TTCCTGCTTGCCTCTATGGAA	0.522																																																	1	Substitution - Missense(1)	kidney(1)											14.0	16.0	16.0					8																	11995803		1103	2392	3495	SO:0001583	missense	377630			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.467G>A	8.37:g.11995803C>T	ENSP00000333329:p.Gly156Asp	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000333796.3	37	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	C	3.793	-0.043359	0.07452	.	.	ENSG00000223443	ENST00000333796	T	0.32272	1.46	0.745	-1.49	0.08718	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.967764	0.08474	N	0.940604	T	0.47637	0.1456	M	0.91249	3.19	0.22424	N	0.99911	B	0.28933	0.228	B	0.43274	0.414	T	0.53627	-0.8412	10	0.39692	T	0.17	.	4.6892	0.12772	0.0:0.2676:0.0:0.7324	.	156	Q6R6M4	U17L2_HUMAN	D	156	ENSP00000333329:G156D	ENSP00000333329:G156D	G	-	2	0	USP17L2	12033212	0.832000	0.29368	0.003000	0.11579	0.004000	0.04260	0.772000	0.26647	-1.508000	0.01800	-1.883000	0.00544	GGC		0.522	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2		NM_201402	
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																																	10	Substitution - Missense(10)	kidney(7)|prostate(2)|endometrium(1)																																										374666					15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000557932.1	37		.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1		NM_199163	
