#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
SEPT14	346288	broad.mit.edu;hgsc.bcm.edu	37	7	55886846	55886846	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr7:55886846C>T	ENST00000388975.3	-	7	907	c.791G>A	c.(790-792)cGt>cAt	p.R264H		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	264	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.R53H(1)|p.R264H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGGGTAGTGACGGCCTCTGAC	0.403																																																	2	Substitution - Missense(2)	kidney(2)											66.0	56.0	60.0					7																	55886846		2203	4299	6502	SO:0001583	missense	0			AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.791G>A	7.37:g.55886846C>T	ENSP00000373627:p.Arg264His	Somatic		WXS	Illumina HiSeq	Phase_I	A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315215	0.81358	.	.	ENSG00000154997	ENST00000388975	T	0.69685	-0.42	3.85	3.85	0.44370	.	0.102871	0.42053	D	0.000778	D	0.88463	0.6443	H	0.98883	4.36	0.50632	D	0.999889	D	0.89917	1.0	D	0.87578	0.998	D	0.92590	0.6082	10	0.87932	D	0	.	13.6577	0.62348	0.0:1.0:0.0:0.0	.	264	Q6ZU15	SEP14_HUMAN	H	264	ENSP00000373627:R264H	ENSP00000373627:R264H	R	-	2	0	SEPT14	55854340	0.996000	0.38824	0.966000	0.40874	0.990000	0.78478	3.438000	0.52871	2.130000	0.65690	0.563000	0.77884	CGT		0.403	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2		NM_207366	
ABLIM3	22885	broad.mit.edu;hgsc.bcm.edu	37	5	148590289	148590289	+	Splice_Site	SNP	G	G	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr5:148590289G>T	ENST00000506113.1	+	6	1058	c.576G>T	c.(574-576)aaG>aaT	p.K192N	RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000356541.3_Splice_Site_p.K192N|ABLIM3_ENST00000326685.7_Splice_Site_p.K192N|ABLIM3_ENST00000504238.1_Splice_Site_p.K192N|ABLIM3_ENST00000309868.7_Splice_Site_p.K192N|ABLIM3_ENST00000508983.1_Splice_Site_p.K192N|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	192	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.K192N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTTGCAGGGATGGTGTTC	0.493																																																	1	Substitution - Missense(1)	kidney(1)											200.0	158.0	173.0					5																	148590289		2203	4300	6503	SO:0001630	splice_region_variant	22885			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.576-1G>T	5.37:g.148590289G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195816	0.58126	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	6.07	3.34	0.38264	Zinc finger, LIM-type (4);	0.095581	0.64402	D	0.000001	D	0.91998	0.7465	M	0.78285	2.405	0.80722	D	1	D;D;D	0.89917	0.997;0.998;1.0	D;D;D	0.91635	0.993;0.995;0.999	D	0.90232	0.4280	9	.	.	.	.	9.6635	0.39969	0.2645:0.0:0.7355:0.0	.	192;192;192	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	N	192	ENSP00000315841:K192N;ENSP00000348938:K192N;ENSP00000310309:K192N;ENSP00000425394:K192N;ENSP00000421183:K192N;ENSP00000420855:K192N	.	K	+	3	2	ABLIM3	148570482	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	2.686000	0.46968	0.449000	0.26747	-0.136000	0.14681	AAG		0.493	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1		NM_014945	Missense_Mutation
ACVR1	90	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	158595006	158595006	+	Silent	SNP	T	T	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr2:158595006T>C	ENST00000263640.3	-	10	1770	c.1341A>G	c.(1339-1341)gtA>gtG	p.V447V	AC019186.1_ENST00000447019.1_lincRNA|ACVR1_ENST00000410057.2_Silent_p.V447V|ACVR1_ENST00000434821.1_Silent_p.V447V|ACVR1_ENST00000409283.2_Silent_p.V447V	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	447	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.V447V(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CCACACAGACTACCTTCCTCA	0.443																																																	1	Substitution - coding silent(1)	kidney(1)											280.0	242.0	255.0					2																	158595006		2203	4300	6503	SO:0001819	synonymous_variant	90				CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.1341A>G	2.37:g.158595006T>C		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000263640.3	37	CCDS2206.1																																																																																				0.443	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254927.1		NM_001105	
AKR1B1	231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	134134487	134134487	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr7:134134487delA	ENST00000285930.4	-	4	493	c.414delT	c.(412-414)attfs	p.I138fs	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	138					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	ACGTGTCCAGAATGTTGGTGT	0.458																																																	0													189.0	170.0	176.0					7																	134134487		2203	4300	6503	SO:0001589	frameshift_variant	231			J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"""Aldo-keto reductases"""	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.414delT	7.37:g.134134487delA	ENSP00000285930:p.Ile138fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Frame_Shift_Del	DEL	ENST00000285930.4	37	CCDS5831.1																																																																																				0.458	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2		NM_001628	
AMZ2P1	201283	broad.mit.edu	37	17	62964436	62964436	+	RNA	SNP	G	G	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr17:62964436G>T	ENST00000430983.1	-	0	1656					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		TTATCCTCACGACTGTGTTCT	0.443																																																	0																																												201283			AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62964436G>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000430983.1	37																																																																																					0.443	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1		NM_153032	
ANXA10	11199	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	169100409	169100409	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr4:169100409G>T	ENST00000359299.3	+	9	856	c.670G>T	c.(670-672)Gat>Tat	p.D224Y		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	224						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.D224Y(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AGATATGGTAGATGCCATTAA	0.284																																																	1	Substitution - Missense(1)	kidney(1)											64.0	66.0	65.0					4																	169100409		2203	4299	6502	SO:0001583	missense	11199			AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"""Annexins"""	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.670G>T	4.37:g.169100409G>T	ENSP00000352248:p.Asp224Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q96IQ5|Q9UJV4	Missense_Mutation	SNP	ENST00000359299.3	37	CCDS34096.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291080	0.80914	.	.	ENSG00000109511	ENST00000359299;ENST00000393751	T	0.03689	3.84	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000003	T	0.17577	0.0422	M	0.69248	2.105	0.52099	D	0.999944	D;D	0.58620	0.983;0.979	D;P	0.64237	0.923;0.837	T	0.00004	-1.2567	10	0.87932	D	0	.	20.3002	0.98608	0.0:0.0:1.0:0.0	.	96;224	Q6ITU8;Q9UJ72	.;ANX10_HUMAN	Y	224	ENSP00000352248:D224Y	ENSP00000352248:D224Y	D	+	1	0	ANXA10	169336984	1.000000	0.71417	0.998000	0.56505	0.790000	0.44656	4.015000	0.57152	2.790000	0.95986	0.655000	0.94253	GAT		0.284	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2		NM_007193	
ARHGDIB	397	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	15103538	15103538	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr12:15103538C>T	ENST00000228945.4	-	2	253	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	ARHGDIB_ENST00000539131.1_5'Flank|ARHGDIB_ENST00000541644.1_Missense_Mutation_p.E37K|ARHGDIB_ENST00000541546.1_Missense_Mutation_p.E37K	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	37					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell adhesion (GO:0007162)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)	p.E37K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						TTGTCCATTTCCTGCAGCTCT	0.483																																																	1	Substitution - Missense(1)	kidney(1)											235.0	210.0	219.0					12																	15103538		2203	4300	6503	SO:0001583	missense	397			L07916	CCDS8671.1	12p12.3	2014-01-30				ENSG00000111348		"""Endogenous ligands"""	679	protein-coding gene	gene with protein product		602843		RAP1GN1, GDIA2, GDID4		8434008, 8356058	Standard	NM_001175		Approved	Ly-GDI, RhoGDI2	uc001rcq.1	P52566		ENST00000228945.4:c.109G>A	12.37:g.15103538C>T	ENSP00000228945:p.Glu37Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B5BU79	Missense_Mutation	SNP	ENST00000228945.4	37	CCDS8671.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.51|16.51	3.143123|3.143123	0.57044|0.57044	.|.	.|.	ENSG00000111348|ENSG00000111348	ENST00000228945;ENST00000541644;ENST00000541546;ENST00000545895;ENST00000541380;ENST00000542276|ENST00000536592	.|.	.|.	.|.	5.19|5.19	5.19|5.19	0.71726|0.71726	Immunoglobulin E-set (1);|.	0.109576|.	0.64402|.	D|.	0.000014|.	T|T	0.68403|0.68403	0.2997|0.2997	L|L	0.50919|0.50919	1.6|1.6	0.58432|0.58432	D|D	0.999996|0.999996	B|.	0.25850|.	0.136|.	B|.	0.25759|.	0.063|.	T|T	0.64892|0.64892	-0.6300|-0.6300	9|5	0.17832|.	T|.	0.49|.	-35.1646|-35.1646	16.2541|16.2541	0.82503|0.82503	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	37|.	P52566|.	GDIR2_HUMAN|.	K|E	37|31	.|.	ENSP00000228945:E37K|.	E|G	-|-	1|2	0|0	ARHGDIB|ARHGDIB	14994805|14994805	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.570000|5.570000	0.67398|0.67398	2.698000|2.698000	0.92095|0.92095	0.591000|0.591000	0.81541|0.81541	GAA|GGA		0.483	ARHGDIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400871.1		NM_001175	
BBS9	27241	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	33376135	33376135	+	Missense_Mutation	SNP	C	C	G	rs377289479		TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr7:33376135C>G	ENST00000242067.6	+	10	1620	c.1099C>G	c.(1099-1101)Caa>Gaa	p.Q367E	BBS9_ENST00000350941.3_Missense_Mutation_p.Q367E|BBS9_ENST00000354265.4_Missense_Mutation_p.Q367E|BBS9_ENST00000396127.2_Missense_Mutation_p.Q367E|BBS9_ENST00000355070.2_Missense_Mutation_p.Q367E	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	367					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.Q367E(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTCTCTGTTCCAAGCTCCAAA	0.383									Bardet-Biedl syndrome																																								2	Substitution - Missense(2)	kidney(2)											100.0	89.0	93.0					7																	33376135		2203	4300	6503	SO:0001583	missense	27241	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1099C>G	7.37:g.33376135C>G	ENSP00000242067:p.Gln367Glu	Somatic		WXS	Illumina HiSeq	Phase_I	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466381	0.43839	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000537775	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	5.54	5.54	0.83059	.	0.334930	0.32819	N	0.005611	D	0.84642	0.5517	M	0.63843	1.955	0.80722	D	1	P;P;P;P	0.34587	0.458;0.458;0.458;0.458	B;B;B;B	0.41271	0.352;0.352;0.352;0.352	T	0.81780	-0.0776	10	0.29301	T	0.29	-13.2239	19.4774	0.94994	0.0:1.0:0.0:0.0	.	367;367;367;367	Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;PTHB1_HUMAN	E	367;367;367;367;367;367;367;245	ENSP00000242067:Q367E;ENSP00000313122:Q367E;ENSP00000379433:Q367E;ENSP00000347182:Q367E;ENSP00000346214:Q367E	ENSP00000242067:Q367E	Q	+	1	0	BBS9	33342660	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	3.375000	0.52410	2.604000	0.88044	0.467000	0.42956	CAA		0.383	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			
BTNL3	10917	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	180424374	180424374	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr5:180424374A>C	ENST00000342868.6	+	3	743	c.559A>C	c.(559-561)Agc>Cgc	p.S187R		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	187	Ig-like V-type.					integral component of membrane (GO:0016021)		p.S187R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			AGATGGGTACAGCCTGTATGA	0.512																																																	1	Substitution - Missense(1)	kidney(1)											107.0	97.0	101.0					5																	180424374		2142	3938	6080	SO:0001583	missense	10917			AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.559A>C	5.37:g.180424374A>C	ENSP00000341787:p.Ser187Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	A	9.318	1.057202	0.19907	.	.	ENSG00000168903	ENST00000342868	T	0.39406	1.08	3.94	-1.2	0.09554	Immunoglobulin-like (1);	.	.	.	.	T	0.22166	0.0534	N	0.14661	0.345	0.09310	N	1	B	0.23650	0.089	B	0.17098	0.017	T	0.17410	-1.0370	9	0.72032	D	0.01	.	5.3191	0.15872	0.3405:0.1404:0.5191:0.0	.	187	Q6UXE8	BTNL3_HUMAN	R	187	ENSP00000341787:S187R	ENSP00000341787:S187R	S	+	1	0	BTNL3	180356980	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.132000	0.10467	-0.403000	0.07622	-0.437000	0.05841	AGC		0.512	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2		NM_197975	
EDRF1	26098	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	127442319	127442319	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr10:127442319A>C	ENST00000356792.4	+	24	3682	c.3450A>C	c.(3448-3450)gaA>gaC	p.E1150D	RP11-383C5.7_ENST00000593871.1_RNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.E1116D|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000601363.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		1150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E1116D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TCAATCGAGAAGAAGTGATGA	0.393																																																	1	Substitution - Missense(1)	kidney(1)											152.0	142.0	145.0					10																	127442319		2203	4300	6503	SO:0001583	missense	26098																														ENST00000356792.4:c.3450A>C	10.37:g.127442319A>C	ENSP00000349244:p.Glu1150Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.345558	0.24426	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	T;T	0.45276	0.9;0.9	4.89	-0.0693	0.13752	.	0.129763	0.51477	D	0.000086	T	0.26991	0.0661	N	0.03608	-0.345	0.46701	D	0.999164	P;D;P	0.55605	0.739;0.972;0.759	B;P;B	0.53912	0.291;0.737;0.4	T	0.04268	-1.0964	10	0.26408	T	0.33	.	10.6185	0.45465	0.5612:0.0:0.4388:0.0	.	1150;497;1116	Q3B7T1;Q5VZQ1;Q3B7T1-5	EDRF1_HUMAN;.;.	D	1150;1116	ENSP00000349244:E1150D;ENSP00000336727:E1116D	ENSP00000336727:E1116D	E	+	3	2	C10orf137	127432309	0.952000	0.32445	0.987000	0.45799	0.564000	0.35744	0.105000	0.15333	-0.164000	0.10927	0.533000	0.62120	GAA		0.393	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			
AKIP1	56672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	8940960	8940960	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr11:8940960T>G	ENST00000309377.4	+	6	656	c.566T>G	c.(565-567)tTa>tGa	p.L189*	AKIP1_ENST00000309357.4_Nonsense_Mutation_p.L162*|AKIP1_ENST00000534147.1_Nonsense_Mutation_p.L189*|AKIP1_ENST00000299576.5_Nonsense_Mutation_p.L162*|AKIP1_ENST00000396648.2_Nonsense_Mutation_p.L162*	NM_020642.3	NP_065693.2	Q9NQ31	AKIP1_HUMAN	A kinase (PRKA) interacting protein 1	189					substrate adhesion-dependent cell spreading (GO:0034446)	nucleus (GO:0005634)		p.L189*(1)		kidney(1)|large_intestine(2)|lung(2)	5						TCAAATGACTTAACCAAGAAG	0.448																																																	1	Substitution - Nonsense(1)	kidney(1)											193.0	177.0	182.0					11																	8940960		2201	4296	6497	SO:0001587	stop_gained	0			AF512007	CCDS7793.1, CCDS55743.1, CCDS55744.1	11p15.3	2011-04-18	2011-04-18	2011-04-18	ENSG00000166452	ENSG00000166452			1170	protein-coding gene	gene with protein product		609191	"""chromosome 11 open reading frame 17"""	C11orf17		20562110, 18178962, 15630084	Standard	NM_020642		Approved	BCA3	uc001mgx.3	Q9NQ31	OTTHUMG00000165653	ENST00000309377.4:c.566T>G	11.37:g.8940960T>G	ENSP00000310459:p.Leu189*	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NBS2|Q8TAC6|Q8TAD3|Q8TAE0	Nonsense_Mutation	SNP	ENST00000309377.4	37	CCDS7793.1	.	.	.	.	.	.	.	.	.	.	T	13.53	2.264104	0.39995	.	.	ENSG00000166452	ENST00000299576;ENST00000309377;ENST00000309357;ENST00000530281;ENST00000396648;ENST00000534147;ENST00000529942	.	.	.	6.07	6.07	0.98685	.	0.512237	0.18852	N	0.129363	.	.	.	.	.	.	0.53005	D	0.999962	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8502	14.3816	0.66914	0.0:0.0:0.0:1.0	.	.	.	.	X	162;189;162;101;162;189;130	.	ENSP00000299576:L162X	L	+	2	0	AKIP1	8897536	0.963000	0.33076	0.269000	0.24586	0.897000	0.52465	3.491000	0.53252	2.326000	0.78906	0.533000	0.62120	TTA		0.448	AKIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385615.1		NM_020642	
MYRF	745	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61539075	61539075	+	Missense_Mutation	SNP	G	G	A	rs367694531		TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr11:61539075G>A	ENST00000278836.5	+	6	940	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_5'Flank|MYRF_ENST00000265460.5_Missense_Mutation_p.V273M	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	282	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V273M(1)									GCCTGGGACCGTGACAGCCCT	0.637																																																	1	Substitution - Missense(1)	kidney(1)											87.0	100.0	95.0					11																	61539075		2202	4299	6501	SO:0001583	missense	0				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.844G>A	11.37:g.61539075G>A	ENSP00000278836:p.Val282Met	Somatic		WXS	Illumina HiSeq	Phase_I	O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	g	10.83	1.461416	0.26248	.	.	ENSG00000124920	ENST00000278836;ENST00000265460	T;T	0.31247	1.5;1.51	4.41	1.2	0.21068	NDT80 DNA-binding domain (1);	0.647026	0.15356	N	0.266692	T	0.10380	0.0254	N	0.02539	-0.55	0.21950	N	0.999456	B;B	0.26902	0.163;0.021	B;B	0.13407	0.009;0.001	T	0.27673	-1.0067	10	0.27082	T	0.32	-6.1094	7.6169	0.28163	0.3714:0.0:0.6286:0.0	.	273;282	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	M	282;273	ENSP00000278836:V282M;ENSP00000265460:V273M	ENSP00000265460:V273M	V	+	1	0	C11orf9	61295651	0.338000	0.24775	0.508000	0.27688	0.680000	0.39746	0.706000	0.25690	0.049000	0.15920	0.457000	0.33378	GTG		0.637	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2		NM_013279	
GID8	54994	hgsc.bcm.edu;ucsc.edu	37	20	61576211	61576214	+	Frame_Shift_Del	DEL	AAAT	AAAT	-			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	AAAT	AAAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr20:61576211_61576214delAAAT	ENST00000266069.3	+	5	781_784	c.634_637delAAAT	c.(634-639)aaatatfs	p.KY212fs		NM_017896.2	NP_060366.1	Q9NWU2	GID8_HUMAN	GID complex subunit 8	212						cell junction (GO:0030054)|nucleus (GO:0005634)											GAAGAAAGTAAAATATCCCAAAAT	0.495																																																	0																																										SO:0001589	frameshift_variant	0			AK000609	CCDS13510.1	20q13.33	2013-07-31	2013-07-31	2012-07-20	ENSG00000101193	ENSG00000101193			15857	protein-coding gene	gene with protein product		611625	"""chromosome 20 open reading frame 11"", ""GID complex subunit 8 homolog (S. cerevisiae)"""	C20orf11		12559565	Standard	NM_017896		Approved	FLJ20602, bA305P22.1, TWA1	uc002ydy.3	Q9NWU2	OTTHUMG00000032949	ENST00000266069.3:c.634_637delAAAT	20.37:g.61576211_61576214delAAAT	ENSP00000266069:p.Lys212fs	Somatic		WXS	Illumina HiSeq	Phase_I	E1P5I3|Q8N5M5	Frame_Shift_Del	DEL	ENST00000266069.3	37	CCDS13510.1																																																																																				0.495	GID8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080097.2		NM_017896	
CNOT11	55571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	101883240	101883240	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr2:101883240A>G	ENST00000289382.3	+	5	1300	c.1137A>G	c.(1135-1137)atA>atG	p.I379M		NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	379					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.I379M(1)									TAGTCGCTATAGAAATGTTGC	0.413																																																	1	Substitution - Missense(1)	kidney(1)											173.0	166.0	168.0					2																	101883240		2203	4300	6503	SO:0001583	missense	55571			AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.1137A>G	2.37:g.101883240A>G	ENSP00000289382:p.Ile379Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	37	CCDS2050.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.72|17.72	3.458787|3.458787	0.63401|0.63401	.|.	.|.	ENSG00000158435|ENSG00000158435	ENST00000289382|ENST00000420107	.|.	.|.	.|.	5.95|5.95	4.77|4.77	0.60923|0.60923	.|.	0.042842|.	0.85682|.	D|.	0.000000|.	T|T	0.73442|0.73442	0.3587|0.3587	M|M	0.84433|0.84433	2.695|2.695	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.77004|.	0.989|.	T|T	0.73736|0.73736	-0.3889|-0.3889	9|5	0.62326|.	D|.	0.03|.	-25.111|-25.111	7.4217|7.4217	0.27075|0.27075	0.6222:0.1295:0.0:0.2483|0.6222:0.1295:0.0:0.2483	.|.	379|.	Q9UKZ1|.	CB029_HUMAN|.	M|G	379|59	.|.	ENSP00000289382:I379M|.	I|R	+|+	3|1	3|2	C2orf29|C2orf29	101249672|101249672	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.971000|0.971000	0.66376|0.66376	1.017000|1.017000	0.29989|0.29989	1.037000|1.037000	0.40024|0.40024	0.533000|0.533000	0.62120|0.62120	ATA|AGA		0.413	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1		NM_017546	
CELSR1	9620	broad.mit.edu;hgsc.bcm.edu	37	22	46792566	46792566	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr22:46792566C>T	ENST00000262738.3	-	13	5778	c.5779G>A	c.(5779-5781)Ggc>Agc	p.G1927S		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1927	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.G1927S(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGCGGGGAGCCGGGGGAGCGC	0.617																																																	1	Substitution - Missense(1)	kidney(1)											39.0	35.0	37.0					22																	46792566		2203	4300	6503	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5779G>A	22.37:g.46792566C>T	ENSP00000262738:p.Gly1927Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	0.081	-1.183182	0.01620	.	.	ENSG00000075275	ENST00000262738	D	0.91792	-2.91	4.45	-5.08	0.02929	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.368494	0.25402	N	0.030933	T	0.70587	0.3241	N	0.01618	-0.8	0.58432	D	0.999997	B;B	0.24483	0.104;0.014	B;B	0.14578	0.005;0.011	T	0.61481	-0.7054	10	0.02654	T	1	.	13.8969	0.63778	0.0:0.1513:0.0:0.8487	.	248;1927	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	S	1927	ENSP00000262738:G1927S	ENSP00000262738:G1927S	G	-	1	0	CELSR1	45171230	0.032000	0.19561	0.008000	0.14137	0.016000	0.09150	0.207000	0.17395	-0.757000	0.04697	-0.224000	0.12420	GGC		0.617	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1		NM_014246	
CIITA	4261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	10997656	10997656	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr16:10997656C>G	ENST00000324288.8	+	9	974	c.841C>G	c.(841-843)Cca>Gca	p.P281A	CIITA_ENST00000381835.5_Missense_Mutation_p.P232A|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	281					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)	p.P281A(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCCAACATCTCCAGACCGGCC	0.612			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																			Dom	yes		16	16p13	4261	"""class II, major histocompatibility complex, transactivator"""		L	1	Substitution - Missense(1)	kidney(1)											93.0	83.0	86.0					16																	10997656		2197	4300	6497	SO:0001583	missense	4261			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.841C>G	16.37:g.10997656C>G	ENSP00000316328:p.Pro281Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731576	0.30684	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.77620	-1.11;-0.41	5.47	5.47	0.80525	.	0.000000	0.53938	D	0.000044	D	0.87156	0.6107	M	0.75264	2.295	0.31372	N	0.680007	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.991;0.999;0.989;1.0;0.997	D	0.87105	0.2181	10	0.49607	T	0.09	.	14.8224	0.70082	0.0:1.0:0.0:0.0	.	281;232;281;281;233;281	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	A	281;232;233;281	ENSP00000316328:P281A;ENSP00000371257:P232A	ENSP00000316328:P281A	P	+	1	0	CIITA	10905157	0.998000	0.40836	1.000000	0.80357	0.104000	0.19210	3.279000	0.51670	2.569000	0.86673	0.655000	0.94253	CCA		0.612	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2		NM_000246	
CILP	8483	broad.mit.edu;hgsc.bcm.edu	37	15	65499201	65499201	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr15:65499201C>T	ENST00000261883.4	-	4	509	c.343G>A	c.(343-345)Gag>Aag	p.E115K		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	115					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.E115K(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CAGAAACCCTCACGGGGACTA	0.637																																																	1	Substitution - Missense(1)	kidney(1)											46.0	46.0	46.0					15																	65499201		2201	4299	6500	SO:0001583	missense	8483			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.343G>A	15.37:g.65499201C>T	ENSP00000261883:p.Glu115Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446644	0.25987	.	.	ENSG00000138615	ENST00000261883	T	0.16897	2.31	5.05	5.05	0.67936	.	0.218421	0.47093	D	0.000241	T	0.07098	0.0180	N	0.04787	-0.16	0.36541	D	0.871315	B	0.18461	0.028	B	0.20767	0.031	T	0.23655	-1.0182	10	0.06891	T	0.86	-6.5674	9.3457	0.38107	0.0:0.9054:0.0:0.0946	.	115	O75339	CILP1_HUMAN	K	115	ENSP00000261883:E115K	ENSP00000261883:E115K	E	-	1	0	CILP	63286254	0.784000	0.28713	0.951000	0.38953	0.828000	0.46876	1.432000	0.34936	2.619000	0.88677	0.561000	0.74099	GAG		0.637	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1		NM_003613	
CIRH1A	84916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	69199288	69199288	+	Silent	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr16:69199288C>T	ENST00000314423.7	+	15	1869	c.1692C>T	c.(1690-1692)agC>agT	p.S564S	CIRH1A_ENST00000352319.4_Silent_p.S449S|CIRH1A_ENST00000563094.1_Silent_p.S564S			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	564					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)	p.S564S(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CAGATTGGAGCCGGACTGTCC	0.488																																					Melanoma(69;1156 1278 4951 8715 52012)												1	Substitution - coding silent(1)	kidney(1)											123.0	108.0	113.0					16																	69199288		2198	4300	6498	SO:0001819	synonymous_variant	84916			AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1692C>T	16.37:g.69199288C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Silent	SNP	ENST00000314423.7	37	CCDS10872.1																																																																																				0.488	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2		NM_032830	
CLCA4	22802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	87031612	87031612	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:87031612T>C	ENST00000370563.3	+	6	905	c.863T>C	c.(862-864)aTg>aCg	p.M288T	CLCA4_ENST00000263723.5_Start_Codon_SNP_p.M1T	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	288					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.M288T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ACCATACCCATGGTGACACCA	0.408																																																	1	Substitution - Missense(1)	kidney(1)											157.0	148.0	151.0					1																	87031612		1883	4121	6004	SO:0001583	missense	22802			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.863T>C	1.37:g.87031612T>C	ENSP00000359594:p.Met288Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	T	9.789	1.177293	0.21787	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	T;T	0.13901	4.13;2.55	6.11	4.97	0.65823	.	0.516628	0.19865	N	0.104322	T	0.12561	0.0305	M	0.87758	2.905	0.37992	D	0.933934	B	0.17268	0.021	B	0.21708	0.036	T	0.02238	-1.1190	10	0.87932	D	0	-12.2233	11.3593	0.49633	0.0:0.0:0.2897:0.7102	.	288	Q14CN2	CLCA4_HUMAN	T	288;1	ENSP00000359594:M288T;ENSP00000263723:M1T	ENSP00000263723:M1T	M	+	2	0	CLCA4	86804200	0.001000	0.12720	0.027000	0.17364	0.046000	0.14306	0.449000	0.21744	1.100000	0.41517	0.533000	0.62120	ATG		0.408	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1		NM_012128	
CLPB	81570	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	72005414	72005414	+	Silent	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr11:72005414C>T	ENST00000294053.3	-	15	1898	c.1725G>A	c.(1723-1725)gaG>gaA	p.E575E	CLPB_ENST00000543042.1_Silent_p.E374E|CLPB_ENST00000538021.1_Silent_p.E183E|CLPB_ENST00000437826.2_Silent_p.E530E|CLPB_ENST00000340729.5_Silent_p.E516E|CLPB_ENST00000538039.1_Silent_p.E545E	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	575					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.E575E(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GTTGGATGAGCTCCGAGTGGC	0.562																																																	1	Substitution - coding silent(1)	kidney(1)											91.0	88.0	89.0					11																	72005414		2200	4293	6493	SO:0001819	synonymous_variant	81570			BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.1725G>A	11.37:g.72005414C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Silent	SNP	ENST00000294053.3	37	CCDS8215.1																																																																																				0.562	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1		NM_030813	
CNGB3	54714	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	87591035	87591035	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr8:87591035A>T	ENST00000320005.5	-	17	2032	c.1985T>A	c.(1984-1986)cTt>cAt	p.L662H		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	662					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.L662H(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GAGGAGGGCAAGATCTTTTCT	0.453																																																	1	Substitution - Missense(1)	kidney(1)											128.0	129.0	129.0					8																	87591035		2203	4300	6503	SO:0001583	missense	54714			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1985T>A	8.37:g.87591035A>T	ENSP00000316605:p.Leu662His	Somatic		WXS	Illumina HiSeq	Phase_I	C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	A	1.800	-0.477353	0.04414	.	.	ENSG00000170289	ENST00000517327;ENST00000320005	T;T	0.78246	-1.16;-0.12	5.3	1.6	0.23607	.	0.826828	0.10489	N	0.668592	T	0.64800	0.2631	L	0.42245	1.32	0.09310	N	1	B;B	0.19583	0.037;0.022	B;B	0.23419	0.046;0.02	T	0.47045	-0.9147	10	0.13853	T	0.58	.	3.6985	0.08374	0.6585:0.137:0.0735:0.131	.	657;662	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	H	53;662	ENSP00000428329:L53H;ENSP00000316605:L662H	ENSP00000316605:L662H	L	-	2	0	CNGB3	87660151	0.035000	0.19736	0.117000	0.21633	0.401000	0.30781	2.774000	0.47694	0.039000	0.15632	0.383000	0.25322	CTT		0.453	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1		NM_019098	
COLEC12	81035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	346953	346953	+	Silent	SNP	C	C	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr18:346953C>A	ENST00000400256.3	-	5	876	c.669G>T	c.(667-669)ctG>ctT	p.L223L		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	223					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.L223L(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CAGACCGCTGCAGATTCGTGA	0.473																																																	1	Substitution - coding silent(1)	kidney(1)											112.0	109.0	110.0					18																	346953		2203	4300	6503	SO:0001819	synonymous_variant	81035			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.669G>T	18.37:g.346953C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	ENST00000400256.3	37	CCDS32782.1																																																																																				0.473	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			
COPS2	9318	broad.mit.edu	37	15	49423011	49423011	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr15:49423011G>T	ENST00000388901.5	-	10	1023	c.950C>A	c.(949-951)gCc>gAc	p.A317D	COPS2_ENST00000299259.6_Missense_Mutation_p.A324D|COPS2_ENST00000542928.1_Missense_Mutation_p.A253D	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	317	PCI.				cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.A317D(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ATTCTGATAGGCACTAATAGA	0.308																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)												1	Substitution - Missense(1)	kidney(1)											105.0	103.0	104.0					15																	49423011		2196	4294	6490	SO:0001583	missense	9318			AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"""COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"""			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.950C>A	15.37:g.49423011G>T	ENSP00000373553:p.Ala317Asp	Somatic		WXS	Illumina GAIIx	Phase_I	O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000388901.5	37	CCDS32235.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972608	0.92919	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	T;T;T	0.80566	-1.39;-0.97;-1.39	5.33	5.33	0.75918	PCI/PINT associated module (1);Proteasome component (PCI) domain (1);	0.000000	0.85682	D	0.000000	D	0.93187	0.7830	H	0.96748	3.875	0.80722	D	1	D;D;D	0.59767	0.966;0.986;0.986	P;D;D	0.64687	0.903;0.928;0.928	D	0.95157	0.8278	10	0.87932	D	0	-4.0779	19.3667	0.94466	0.0:0.0:1.0:0.0	.	253;325;317	B4DIH5;Q59EL2;P61201	.;.;CSN2_HUMAN	D	324;317;253	ENSP00000299259:A324D;ENSP00000373553:A317D;ENSP00000443664:A253D	ENSP00000299259:A324D	A	-	2	0	COPS2	47210303	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.772000	0.98984	2.638000	0.89438	0.655000	0.94253	GCC		0.308	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1		NM_004236	
CP	1356	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	148928072	148928072	+	Silent	SNP	T	T	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr3:148928072T>C	ENST00000264613.6	-	3	751	c.489A>G	c.(487-489)gaA>gaG	p.E163E		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	163	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.E163E(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GACTTTGTTCTTCAGTGGCAA	0.448																																																	1	Substitution - coding silent(1)	kidney(1)											203.0	177.0	186.0					3																	148928072		2203	4300	6503	SO:0001819	synonymous_variant	1356			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.489A>G	3.37:g.148928072T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q14063|Q2PP18|Q9UKS4	Silent	SNP	ENST00000264613.6	37	CCDS3141.1																																																																																				0.448	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1		NM_000096	
CYP4A11	1579	broad.mit.edu	37	1	47401310	47401310	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:47401310C>T	ENST00000310638.4	-	5	551	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	CYP4A11_ENST00000457840.2_Missense_Mutation_p.E70K|CYP4A11_ENST00000462347.1_Missense_Mutation_p.E174K|CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000371905.1_Missense_Mutation_p.E174K|CYP4A11_ENST00000371904.4_Missense_Mutation_p.E174K	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	174					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)	p.E174K(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	AGGAGCTCTTCCCATTTGTCC	0.522																																																	1	Substitution - Missense(1)	kidney(1)											67.0	53.0	58.0					1																	47401310		2201	4279	6480	SO:0001583	missense	1579			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.520G>A	1.37:g.47401310C>T	ENSP00000311095:p.Glu174Lys	Somatic		WXS	Illumina GAIIx	Phase_I	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	CCDS543.1	.	.	.	.	.	.	.	.	.	.	N	17.03	3.285461	0.59867	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905;ENST00000457840	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.03	5.03	0.67393	.	0.122833	0.56097	D	0.000028	T	0.71013	0.3290	L	0.33792	1.035	0.58432	D	0.999994	P	0.40000	0.698	P	0.53102	0.718	T	0.73177	-0.4065	10	0.59425	D	0.04	.	17.7018	0.88296	0.0:1.0:0.0:0.0	.	174	Q02928	CP4AB_HUMAN	K	174;174;174;70	ENSP00000311095:E174K;ENSP00000360971:E174K;ENSP00000360972:E174K;ENSP00000406272:E70K	ENSP00000311095:E174K	E	-	1	0	CYP4A11	47173897	1.000000	0.71417	0.985000	0.45067	0.285000	0.27093	2.867000	0.48428	2.497000	0.84241	0.650000	0.86243	GAA		0.522	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1		NM_000778	
DET1	55070	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	89056233	89056233	+	Silent	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr15:89056233C>T	ENST00000268148.8	-	5	1747	c.1602G>A	c.(1600-1602)agG>agA	p.R534R	DET1_ENST00000564406.1_Silent_p.R545R|RP11-97O12.7_ENST00000606219.1_RNA|DET1_ENST00000444300.1_Silent_p.R545R	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	534						nucleus (GO:0005634)		p.R545R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CAGCATTAGTCCTCTGCACAG	0.522																																																	1	Substitution - coding silent(1)	kidney(1)											99.0	98.0	98.0					15																	89056233		2024	4181	6205	SO:0001819	synonymous_variant	55070			BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.1602G>A	15.37:g.89056233C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KNN6|Q2VPC0|Q9NWD5	Silent	SNP	ENST00000268148.8	37	CCDS45344.1																																																																																				0.522	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2		NM_017996	
GNG10	2790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	114429212	114429212	+	Silent	SNP	T	T	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr9:114429212T>C	ENST00000374293.4	+	2	499	c.199T>C	c.(199-201)Tta>Cta	p.L67L	DNAJC25-GNG10_ENST00000374294.3_Silent_p.L152L|DNAJC25_ENST00000556107.1_Silent_p.L152L	NM_001017998.3|NM_001198664.1	NP_001017998.1|NP_001185593.1	P50151	GBG10_HUMAN	guanine nucleotide binding protein (G protein), gamma 10	67					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)	p.L152L(1)|p.L67L(1)		kidney(1)	1						ATCCTGTGCTTTACTCTGAAG	0.493																																																	2	Substitution - coding silent(2)	kidney(2)											67.0	58.0	61.0					9																	114429212		2203	4300	6503	SO:0001819	synonymous_variant	552891				CCDS35107.1	9q31.3	2010-08-17			ENSG00000242616	ENSG00000242616			4402	protein-coding gene	gene with protein product		604389				7665596	Standard	NM_001017998		Approved			P50151	OTTHUMG00000157193	ENST00000374293.4:c.199T>C	9.37:g.114429212T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q3B7K2|Q4VC27	Silent	SNP	ENST00000374293.4	37	CCDS35107.1																																																																																				0.493	GNG10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053644.2			
DOT1L	84444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2211150	2211150	+	Silent	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr19:2211150G>A	ENST00000398665.3	+	15	1440	c.1404G>A	c.(1402-1404)caG>caA	p.Q468Q	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	468					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.Q468Q(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGCGTGCAGCGGCACTCCC	0.697																																																	2	Substitution - coding silent(2)	kidney(2)											57.0	67.0	64.0					19																	2211150		2106	4200	6306	SO:0001819	synonymous_variant	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1404G>A	19.37:g.2211150G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	8.471	0.857621	0.17178	.	.	ENSG00000104885	ENST00000440640	.	.	.	4.8	1.05	0.20165	.	.	.	.	.	T	0.43765	0.1262	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25502	-1.0130	4	.	.	.	-14.8012	2.7285	0.05220	0.4232:0.2504:0.3264:0.0	.	.	.	.	N	255	.	.	S	+	2	0	DOT1L	2162150	1.000000	0.71417	0.045000	0.18777	0.774000	0.43823	1.782000	0.38654	0.406000	0.25560	-0.258000	0.10820	AGC		0.697	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1		NM_032482	
EID3	493861	hgsc.bcm.edu;ucsc.edu	37	12	104698324	104698325	+	Frame_Shift_Ins	INS	-	-	T	rs561075240		TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr12:104698324_104698325insT	ENST00000527879.1	+	1	808_809	c.612_613insT	c.(613-615)ttgfs	p.L205fs	TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000354940.6_Intron	NM_001008394.2	NP_001008395.1			EP300 interacting inhibitor of differentiation 3											large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGCCTACAAAGTTGCAGAAGTT	0.411																																																	0																																										SO:0001589	frameshift_variant	493861			BC027612	CCDS53822.1	12q23.3	2006-11-24				ENSG00000255150			32961	protein-coding gene	gene with protein product		612986				15987788, 15752197	Standard	NM_001008394		Approved	FLJ25832, NSMCE4B, NSE4B	uc001tkw.3	Q8N140		ENST00000527879.1:c.614dupT	12.37:g.104698326_104698326dupT	ENSP00000435619:p.Leu205fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Ins	INS	ENST00000527879.1	37	CCDS53822.1																																																																																				0.411	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387034.1		NM_001008394	
AGO4	192670	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36319144	36319144	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:36319144C>T	ENST00000373210.3	+	18	2769	c.2524C>T	c.(2524-2526)Cag>Tag	p.Q842*		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	842					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)	p.Q842*(1)									CCGGGATCCTCAGGCCTTGGC	0.453																																																	1	Substitution - Nonsense(1)	kidney(1)											101.0	90.0	94.0					1																	36319144		2203	4300	6503	SO:0001587	stop_gained	192670			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.2524C>T	1.37:g.36319144C>T	ENSP00000362306:p.Gln842*	Somatic		WXS	Illumina HiSeq	Phase_I	A7MD27	Nonsense_Mutation	SNP	ENST00000373210.3	37	CCDS397.1	.	.	.	.	.	.	.	.	.	.	C	41	8.958957	0.99018	.	.	ENSG00000134698	ENST00000373210	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-11.566	19.888	0.96917	0.0:1.0:0.0:0.0	.	.	.	.	X	842	.	ENSP00000362306:Q842X	Q	+	1	0	EIF2C4	36091731	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.720000	0.93068	0.591000	0.81541	CAG		0.453	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3		NM_017629	
EML2	24139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	46119737	46119737	+	Silent	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr19:46119737G>A	ENST00000245925.3	-	15	1541	c.1491C>T	c.(1489-1491)agC>agT	p.S497S	EML2_ENST00000587152.1_Silent_p.S698S|EML2_ENST00000536630.1_Silent_p.S644S|EML2_ENST00000589876.1_Silent_p.S497S	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	497	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.S497S(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TGCCCAGGCGGCTGACCTTGC	0.687																																																	1	Substitution - coding silent(1)	kidney(1)											25.0	28.0	27.0					19																	46119737		2189	4272	6461	SO:0001819	synonymous_variant	24139			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1491C>T	19.37:g.46119737G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Silent	SNP	ENST00000245925.3	37	CCDS12670.1																																																																																				0.687	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1		NM_012155	
F13B	2165	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	197024881	197024881	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:197024881C>T	ENST00000367412.1	-	8	1361	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	440	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.E440K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTTCCTTGTTCGCAACGAGAT	0.393																																																	1	Substitution - Missense(1)	kidney(1)											136.0	132.0	133.0					1																	197024881		2203	4300	6503	SO:0001583	missense	2165			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1318G>A	1.37:g.197024881C>T	ENSP00000356382:p.Glu440Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	1.456	-0.563782	0.03939	.	.	ENSG00000143278	ENST00000367412	T	0.64803	-0.12	5.84	4.91	0.64330	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.33691	N	0.004652	T	0.44808	0.1311	L	0.45581	1.43	0.19945	N	0.999946	B	0.32717	0.381	B	0.23852	0.049	T	0.35674	-0.9779	10	0.06236	T	0.91	.	8.2624	0.31793	0.0:0.7585:0.159:0.0825	.	440	P05160	F13B_HUMAN	K	440	ENSP00000356382:E440K	ENSP00000356382:E440K	E	-	1	0	F13B	195291504	0.059000	0.20769	0.388000	0.26195	0.109000	0.19521	0.151000	0.16283	1.414000	0.47017	0.591000	0.81541	GAA		0.393	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2		NM_001994	
ABHD17C	58489	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	81046666	81046666	+	Silent	SNP	A	A	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr15:81046666A>G	ENST00000258884.4	+	3	1072	c.945A>G	c.(943-945)ctA>ctG	p.L315L	ABHD17C_ENST00000559506.1_3'UTR|ABHD17C_ENST00000558464.1_Silent_p.L281L|ABHD17C_ENST00000560609.1_Silent_p.L80L	NM_021214.1	NP_067037.1	Q6PCB6	AB17C_HUMAN	abhydrolase domain containing 17C	315							hydrolase activity (GO:0016787)	p.L315L(1)									CACAATACCTAGAAAGACTAA	0.468																																																	1	Substitution - coding silent(1)	kidney(1)											70.0	66.0	67.0					15																	81046666		1906	4121	6027	SO:0001819	synonymous_variant	58489				CCDS45323.1	15q25.1	2013-03-15	2013-03-15	2013-03-15	ENSG00000136379	ENSG00000136379		"""Abhydrolase domain containing"""	26925	protein-coding gene	gene with protein product			"""family with sequence similarity 108, member C1"""	FAM108C1			Standard	NM_021214		Approved		uc002bfu.3	Q6PCB6		ENST00000258884.4:c.945A>G	15.37:g.81046666A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q1RMD6|Q9NPM1	Silent	SNP	ENST00000258884.4	37	CCDS45323.1																																																																																				0.468	ABHD17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417652.1		NM_021214	
GAREM	64762	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	29867421	29867421	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr18:29867421G>A	ENST00000269209.6	-	4	1142	c.1139C>T	c.(1138-1140)aCc>aTc	p.T380I	GAREM_ENST00000399218.4_Missense_Mutation_p.T380I|RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000578619.1_5'Flank			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	380					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.T380I(2)									GAAGGACTGGGTGAGCTCATC	0.567																																																	2	Substitution - Missense(2)	kidney(1)|skin(1)											101.0	97.0	98.0					18																	29867421		2203	4300	6503	SO:0001583	missense	0			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1139C>T	18.37:g.29867421G>A	ENSP00000269209:p.Thr380Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199340	0.79015	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.18960	2.18;2.18	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	L	0.36672	1.1	0.80722	D	1	D;P	0.76494	0.999;0.866	D;P	0.83275	0.996;0.595	T	0.05683	-1.0870	10	0.48119	T	0.1	-27.2857	19.5673	0.95398	0.0:0.0:1.0:0.0	.	380;380	Q9H706;Q9H706-3	FA59A_HUMAN;.	I	380	ENSP00000382165:T380I;ENSP00000269209:T380I	ENSP00000269209:T380I	T	-	2	0	FAM59A	28121419	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	9.357000	0.97099	2.706000	0.92434	0.462000	0.41574	ACC		0.567	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1		NM_022751	
FGFR1	2260	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	38272389	38272389	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr8:38272389C>G	ENST00000447712.2	-	14	2826	c.1885G>C	c.(1885-1887)Gtc>Ctc	p.V629L	FGFR1_ENST00000397103.1_Missense_Mutation_p.V540L|FGFR1_ENST00000397108.4_Missense_Mutation_p.V627L|FGFR1_ENST00000425967.3_Missense_Mutation_p.V660L|FGFR1_ENST00000326324.6_Missense_Mutation_p.V538L|FGFR1_ENST00000335922.5_Missense_Mutation_p.V619L|FGFR1_ENST00000397091.5_Missense_Mutation_p.V627L|FGFR1_ENST00000397113.2_Missense_Mutation_p.V627L|FGFR1_ENST00000356207.5_Missense_Mutation_p.V540L|FGFR1_ENST00000532791.1_Missense_Mutation_p.V627L|FGFR1_ENST00000341462.5_Missense_Mutation_p.V629L	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	629	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.V629L(3)|p.V619L(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GTCACCAGGACATTCCTGGCT	0.577		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)			Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	4	Substitution - Missense(4)	kidney(4)											81.0	83.0	83.0					8																	38272389		2137	4275	6412	SO:0001583	missense	2260			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1885G>C	8.37:g.38272389C>G	ENSP00000400162:p.Val629Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	CCDS6107.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.793223|5.793223	0.96952|0.96952	.|.	.|.	ENSG00000077782|ENSG00000077782	ENST00000310729|ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	.|D;D;D;D;D;D;D;D;D;D;D	.|0.91686	.|-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89	5.9|5.9	5.9|5.9	0.94986|0.94986	.|Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94974|0.94974	0.8374|0.8374	L|L	0.46567|0.46567	1.45|1.45	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.69078	.|0.996;0.996;0.997;0.993;0.996	.|D;D;D;D;D	.|0.79784	.|0.987;0.983;0.993;0.987;0.987	D|D	0.94937|0.94937	0.8088|0.8088	6|10	0.87932|0.87932	D|D	0|0	.|.	20.2704|20.2704	0.98474|0.98474	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|538;538;629;619;627	.|P11362-14;P11362-4;P11362;P11362-20;P11362-2	.|.;.;FGFR1_HUMAN;.;.	S|L	637|627;660;629;629;627;627;540;619;538;540;627	.|ENSP00000380280:V627L;ENSP00000393312:V660L;ENSP00000400162:V629L;ENSP00000340636:V629L;ENSP00000432972:V627L;ENSP00000380302:V627L;ENSP00000348537:V540L;ENSP00000337247:V619L;ENSP00000327229:V538L;ENSP00000380292:V540L;ENSP00000380297:V627L	ENSP00000311337:C637S|ENSP00000327229:V538L	C|V	-|-	2|1	0|0	FGFR1|FGFR1	38391546|38391546	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.970000|0.970000	0.65996|0.65996	7.818000|7.818000	0.86416|0.86416	2.793000|2.793000	0.96121|0.96121	0.591000|0.591000	0.81541|0.81541	TGT|GTC		0.577	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				
FMN2	56776	broad.mit.edu	37	1	240255569	240255571	+	In_Frame_Del	DEL	GGC	GGC	-	rs71929261|rs140531536	byFrequency	TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	GGC	GGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:240255569_240255571delGGC	ENST00000319653.9	+	1	390_392	c.160_162delGGC	c.(160-162)ggcdel	p.G59del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	59					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G197delG(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGGGGGAgggggcggcggcggcg	0.665														3539	0.706669	0.7821	0.7507	5008	,	,		10143	0.4514		0.7893	False		,,,				2504	0.7515																1	Deletion - In frame(1)	prostate(1)																																								SO:0001651	inframe_deletion	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.160_162delGGC	1.37:g.240255578_240255580delGGC	ENSP00000318884:p.Gly59del	Somatic		WXS	Illumina GAIIx	Phase_I	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	CCDS31069.2																																																																																				0.665	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2		XM_371352	
GCNT2	2651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	10586869	10586869	+	Intron	DEL	C	C	-			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr6:10586869delC	ENST00000379597.3	+	2	1481				GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000265012.4_Frame_Shift_Del_p.T216fs|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AAAAATATCACCCCAGGGGTG	0.433																																																	0													72.0	76.0	75.0					6																	10586869		2203	4300	6503	SO:0001627	intron_variant	2651			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.926-34715C>-	6.37:g.10586869delC		Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000379597.3	37	CCDS34338.1																																																																																				0.433	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3		NM_145649	
GCSH	2653	broad.mit.edu;hgsc.bcm.edu	37	16	81118200	81118200	+	Splice_Site	SNP	C	C	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr16:81118200C>A	ENST00000315467.3	-	4	417		c.e4-1		GCSH_ENST00000566566.1_Splice_Site|RP11-303E16.8_ENST00000564536.1_RNA	NM_004483.4	NP_004474.2	P23434	GCSH_HUMAN	glycine cleavage system protein H (aminomethyl carrier)						glycine catabolic process (GO:0006546)|glycine decarboxylation via glycine cleavage system (GO:0019464)|methylation (GO:0032259)	glycine cleavage complex (GO:0005960)|mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(2)	5					Glycine(DB00145)	CCAAACTCATCTAAGTGGAAA	0.318																																																	1	Unknown(1)	kidney(1)											17.0	18.0	18.0					16																	81118200		2173	4289	6462	SO:0001630	splice_region_variant	2653			M69175	CCDS10933.1	16q23.2	2014-09-17			ENSG00000140905	ENSG00000140905			4208	protein-coding gene	gene with protein product	"""lipoic acid-containing protein"""	238330				1671321, 2025283	Standard	NM_004483		Approved		uc002fgd.3	P23434	OTTHUMG00000137626	ENST00000315467.3:c.293-1G>T	16.37:g.81118200C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9H1E9	Splice_Site	SNP	ENST00000315467.3	37	CCDS10933.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247375	0.59103	.	.	ENSG00000140905	ENST00000315467	.	.	.	4.91	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2676	0.37650	0.0:0.9022:0.0:0.0978	.	.	.	.	.	-1	.	.	.	-	.	.	GCSH	79675701	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.352000	0.79404	1.426000	0.47256	0.650000	0.86243	.		0.318	GCSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269049.1		NM_004483	Intron
GJB3	2707	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	35250435	35250435	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:35250435G>A	ENST00000373366.2	+	2	687	c.72G>A	c.(70-72)tgG>tgA	p.W24*	GJB3_ENST00000373362.3_Nonsense_Mutation_p.W24*|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	24					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)	p.W24*(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGCGCATCTGGCTGTCCGTGG	0.617																																																	1	Substitution - Nonsense(1)	kidney(1)											159.0	118.0	132.0					1																	35250435		2203	4300	6503	SO:0001587	stop_gained	2707			BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"""Ion channels / Gap junction proteins (connexins)"""	4285	protein-coding gene	gene with protein product	"""connexin 31"""	603324	"""gap junction protein, beta 3, 31kD (connexin 31)"", ""gap junction protein, beta 3, 31kDa (connexin 31)"", ""erythrokeratodermia variabilis"""	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.72G>A	1.37:g.35250435G>A	ENSP00000362464:p.Trp24*	Somatic		WXS	Illumina HiSeq	Phase_I	B2R790|Q2TAZ8	Nonsense_Mutation	SNP	ENST00000373366.2	37	CCDS384.1	.	.	.	.	.	.	.	.	.	.	g	39	7.442530	0.98286	.	.	ENSG00000188910	ENST00000373366;ENST00000373362;ENST00000543647	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7879	0.96445	0.0:0.0:1.0:0.0	.	.	.	.	X	24	.	ENSP00000362460:W24X	W	+	3	0	GJB3	35023022	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	9.807000	0.99171	2.771000	0.95319	0.561000	0.74099	TGG		0.617	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011559.1		NM_024009	
GPHN	10243	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	67147886	67147886	+	Silent	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr14:67147886C>T	ENST00000315266.5	+	2	1247	c.126C>T	c.(124-126)ctC>ctT	p.L42L	GPHN_ENST00000305960.9_Silent_p.L42L|GPHN_ENST00000543237.1_Silent_p.L42L|GPHN_ENST00000459628.1_Silent_p.L42L|GPHN_ENST00000478722.1_Silent_p.L42L	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	42	MPT Mo-transferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)	p.L42L(1)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TCAAAGATCTCGTACAAGATC	0.299			T	MLL	AL																																			Dom	yes		14	14q24	10243	gephyrin (GPH)		L	1	Substitution - coding silent(1)	kidney(1)											90.0	93.0	92.0					14																	67147886		2203	4300	6503	SO:0001819	synonymous_variant	10243			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.126C>T	14.37:g.67147886C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9H4E9|Q9P2G2	Silent	SNP	ENST00000315266.5	37	CCDS32103.1																																																																																				0.299	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2		NM_020806	
GPR116	221395	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	46830726	46830726	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr6:46830726T>G	ENST00000283296.7	-	15	2386	c.2098A>C	c.(2098-2100)Att>Ctt	p.I700L	GPR116_ENST00000456426.2_Missense_Mutation_p.I558L|GPR116_ENST00000362015.4_Missense_Mutation_p.I700L|GPR116_ENST00000545669.1_Missense_Mutation_p.I129L|GPR116_ENST00000265417.7_Missense_Mutation_p.I700L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	700					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I700L(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GTCCCGCCAATGGGACTCTCA	0.532																																					NSCLC(59;410 1274 8751 36715 50546)												1	Substitution - Missense(1)	kidney(1)											102.0	104.0	103.0					6																	46830726		2203	4300	6503	SO:0001583	missense	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2098A>C	6.37:g.46830726T>G	ENSP00000283296:p.Ile700Leu	Somatic		WXS	Illumina HiSeq	Phase_I	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	T	1.368	-0.586966	0.03827	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.25250	1.83;2.21;1.85;1.83;1.81	4.36	-8.73	0.00841	.	1.416530	0.04358	N	0.356982	T	0.06188	0.0160	L	0.54323	1.7	0.09310	N	1	B;B;B;B;B	0.13145	0.0;0.0;0.001;0.007;0.001	B;B;B;B;B	0.14023	0.001;0.001;0.002;0.01;0.002	T	0.12682	-1.0538	10	0.16420	T	0.52	-0.3067	8.7951	0.34874	0.0:0.3959:0.273:0.3311	.	129;255;700;558;700	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	L	700;700;700;558;71;700;129	ENSP00000283296:I700L;ENSP00000354563:I700L;ENSP00000412866:I558L;ENSP00000265417:I700L;ENSP00000441581:I129L	ENSP00000265417:I700L	I	-	1	0	GPR116	46938685	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.560000	0.05964	-2.612000	0.00445	-1.814000	0.00607	ATT		0.532	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2		NM_015234	
GPT	2875	hgsc.bcm.edu	37	8	145732305	145732306	+	Frame_Shift_Ins	INS	-	-	C	rs369193887		TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr8:145732305_145732306insC	ENST00000528431.1	+	12	1570_1571	c.1413_1414insC	c.(1414-1416)cccfs	p.P472fs	GPT_ENST00000394955.2_Frame_Shift_Ins_p.P472fs|MFSD3_ENST00000301327.4_5'Flank			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	472					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	TGACCATTCTGCCCCCCTTGGA	0.624																																																	0																																										SO:0001589	frameshift_variant	2875				CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.1419dupC	8.37:g.145732311_145732311dupC	ENSP00000433586:p.Pro472fs	Somatic		WXS	Illumina HiSeq	Phase_I	B0YJ18|D3DWM7|P78398|Q93076	Frame_Shift_Ins	INS	ENST00000528431.1	37	CCDS6430.1																																																																																				0.624	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			
HRH4	59340	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	22056745	22056745	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr18:22056745A>G	ENST00000256906.4	+	3	492	c.392A>G	c.(391-393)aAg>aGg	p.K131R	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	131					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.K131R(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	GGGGTCTTGAAGATTGTTACT	0.383																																																	1	Substitution - Missense(1)	kidney(1)											177.0	167.0	170.0					18																	22056745		2203	4300	6503	SO:0001583	missense	59340			AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"""GPCR / Class A : Histamine receptors"""	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.392A>G	18.37:g.22056745A>G	ENSP00000256906:p.Lys131Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	ENST00000256906.4	37	CCDS11887.1	.	.	.	.	.	.	.	.	.	.	A	2.913	-0.224980	0.06022	.	.	ENSG00000134489	ENST00000256906	T	0.34072	1.38	5.79	0.0119	0.14089	GPCR, rhodopsin-like superfamily (1);	0.390819	0.28093	N	0.016631	T	0.16514	0.0397	N	0.26042	0.785	0.09310	N	0.999999	B	0.06786	0.001	B	0.13407	0.009	T	0.29701	-1.0003	10	0.02654	T	1	-9.2996	5.567	0.17177	0.5192:0.1421:0.3387:0.0	.	131	Q9H3N8	HRH4_HUMAN	R	131	ENSP00000256906:K131R	ENSP00000256906:K131R	K	+	2	0	HRH4	20310743	0.109000	0.22037	0.385000	0.26158	0.935000	0.57460	0.306000	0.19279	0.444000	0.26612	0.533000	0.62120	AAG		0.383	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254904.1			
HSP90B3P	343477	broad.mit.edu	37	1	92108377	92108377	+	IGR	SNP	A	A	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:92108377A>C								CDC7 (117056 upstream) : TGFBR3 (37524 downstream)																							ACTGAAGGGGAAGTTACCTTC	0.328																																																	0																																										SO:0001628	intergenic_variant	343477																															1.37:g.92108377A>C		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.328									
ITGAE	3682	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	3657179	3657179	+	Silent	SNP	G	G	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr17:3657179G>C	ENST00000263087.4	-	13	1523	c.1425C>G	c.(1423-1425)tcC>tcG	p.S475S		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	475					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.S475S(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CCGCGATGTAGGAGAGGCTGC	0.627																																					NSCLC(182;635 2928 8995 38788)												1	Substitution - coding silent(1)	kidney(1)											68.0	57.0	61.0					17																	3657179		2203	4300	6503	SO:0001819	synonymous_variant	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1425C>G	17.37:g.3657179G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q17RS6|Q9NZU9	Silent	SNP	ENST00000263087.4	37	CCDS32531.1																																																																																				0.627	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1		NM_002208	
KIAA0100	9703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	26965110	26965110	+	Silent	SNP	A	A	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr17:26965110A>G	ENST00000528896.2	-	14	1589	c.1515T>C	c.(1513-1515)ggT>ggC	p.G505G	KIAA0100_ENST00000389003.3_Silent_p.G362G|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.G362G	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	505						extracellular region (GO:0005576)		p.G505G(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GGTTATAGCTACCCTAGAGAA	0.493																																																	1	Substitution - coding silent(1)	kidney(1)											52.0	55.0	54.0					17																	26965110		2203	4300	6503	SO:0001819	synonymous_variant	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1515T>C	17.37:g.26965110A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	CCDS32595.1																																																																																				0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680	
KIAA0922	23240	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	154504367	154504367	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr4:154504367A>G	ENST00000409663.3	+	10	970	c.918A>G	c.(916-918)atA>atG	p.I306M	KIAA0922_ENST00000409959.3_Missense_Mutation_p.I306M|KIAA0922_ENST00000440693.1_Missense_Mutation_p.I306M	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	306						integral component of membrane (GO:0016021)		p.I306M(1)|p.I158M(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				ATATGTATATATTACATTCAG	0.308																																																	2	Substitution - Missense(2)	kidney(2)											84.0	95.0	91.0					4																	154504367		2202	4295	6497	SO:0001583	missense	23240			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.918A>G	4.37:g.154504367A>G	ENSP00000386574:p.Ile306Met	Somatic		WXS	Illumina HiSeq	Phase_I	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	A	11.96	1.794874	0.31777	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.17691	2.51;2.26;2.5;2.26	6.02	-4.7	0.03288	.	0.408324	0.29638	N	0.011591	T	0.10208	0.0250	N	0.19112	0.55	0.09310	N	1	D;B;B	0.53885	0.963;0.174;0.209	P;B;B	0.51385	0.668;0.047;0.078	T	0.18745	-1.0327	10	0.34782	T	0.22	-6.2287	2.5632	0.04777	0.3231:0.327:0.2521:0.0978	.	306;306;306	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	M	306;306;306;167	ENSP00000386574:I306M;ENSP00000409663:I306M;ENSP00000386787:I306M;ENSP00000240487:I167M	ENSP00000240487:I167M	I	+	3	3	KIAA0922	154723817	0.021000	0.18746	0.020000	0.16555	0.866000	0.49608	-0.052000	0.11865	-0.693000	0.05121	-0.313000	0.08912	ATA		0.308	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1		NM_015196	
KIAA1462	57608	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	30316647	30316647	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr10:30316647G>C	ENST00000375377.1	-	3	2531	c.2430C>G	c.(2428-2430)tgC>tgG	p.C810W		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	810					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.C810W(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTTTACTGTTGCAAGGGCCCG	0.577																																																	1	Substitution - Missense(1)	kidney(1)											90.0	92.0	91.0					10																	30316647		1916	4133	6049	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2430C>G	10.37:g.30316647G>C	ENSP00000364526:p.Cys810Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087483	0.55968	.	.	ENSG00000165757	ENST00000375377	T	0.35973	1.28	5.75	4.85	0.62838	.	0.155508	0.64402	D	0.000018	T	0.56717	0.2004	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60337	-0.7283	10	0.87932	D	0	-22.9605	11.7846	0.52034	0.1408:0.0:0.8592:0.0	.	810	Q9P266	K1462_HUMAN	W	810	ENSP00000364526:C810W	ENSP00000364526:C810W	C	-	3	2	KIAA1462	30356653	1.000000	0.71417	0.991000	0.47740	0.717000	0.41224	7.191000	0.77763	1.446000	0.47643	-0.136000	0.14681	TGC		0.577	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1		NM_020848	
L1CAM	3897	hgsc.bcm.edu	37	X	153130543	153130543	+	Splice_Site	SNP	G	G	A	rs35902890	byFrequency	TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chrX:153130543G>A	ENST00000370060.1	-	22	3061	c.2872C>T	c.(2872-2874)Ctg>Ttg	p.L958L	L1CAM_ENST00000543994.1_Splice_Site_p.L960L|L1CAM_ENST00000361981.3_Splice_Site_p.L953L|L1CAM_ENST00000538883.1_Splice_Site_p.L960L|L1CAM_ENST00000370057.3_Splice_Site_p.L958L|L1CAM_ENST00000370055.1_Splice_Site_p.L953L|L1CAM_ENST00000361699.4_Splice_Site_p.L958L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	958	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.		L -> V (in dbSNP:rs35902890).		axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.L958L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGCACGCACGGGGGTGGTAG	0.697																																																	1	Substitution - coding silent(1)	kidney(1)											27.0	26.0	26.0					X																	153130543		2202	4297	6499	SO:0001630	splice_region_variant	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2872+1C>T	X.37:g.153130543G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	CCDS14733.1																																																																																				0.697	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2		NM_024003	Silent
LARP1B	55132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	129012653	129012653	+	Silent	SNP	T	T	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr4:129012653T>C	ENST00000326639.6	+	7	865	c.654T>C	c.(652-654)taT>taC	p.Y218Y	LARP1B_ENST00000432347.2_Silent_p.Y218Y|LARP1B_ENST00000427266.1_Silent_p.Y218Y|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000441387.1_Silent_p.Y218Y|LARP1B_ENST00000512292.1_Silent_p.Y218Y|LARP1B_ENST00000394288.3_Silent_p.Y218Y|LARP1B_ENST00000264584.5_Silent_p.Y171Y	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	218	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Y218Y(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TTAAAGAGTATATTAAGCGTC	0.338																																																	2	Substitution - coding silent(2)	kidney(2)											138.0	128.0	132.0					4																	129012653		2203	4300	6503	SO:0001819	synonymous_variant	55132				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.654T>C	4.37:g.129012653T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Silent	SNP	ENST00000326639.6	37	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	T	8.372	0.835542	0.16820	.	.	ENSG00000138709	ENST00000507377	T	0.42900	0.96	4.01	0.411	0.16392	.	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.11966	-1.0566	7	0.30854	T	0.27	.	8.1381	0.31067	0.0:0.5237:0.0:0.4763	.	.	.	.	H	187	ENSP00000424383:Y187H	ENSP00000424383:Y187H	Y	+	1	0	LARP1B	129232103	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.068000	0.30629	0.240000	0.21263	0.454000	0.30748	TAT		0.338	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2		NM_018078	
LMO4	8543	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	87805280	87805280	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:87805280G>A	ENST00000370544.5	+	3	1078	c.298G>A	c.(298-300)Gtc>Atc	p.V100I	LMO4_ENST00000370542.1_Missense_Mutation_p.V100I|LMO4_ENST00000489303.1_3'UTR	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	100	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of protein complex assembly (GO:0031333)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell activation (GO:0050865)|regulation of cell fate specification (GO:0042659)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron differentiation (GO:0021522)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)|ventral spinal cord interneuron differentiation (GO:0021514)|ventricular septum development (GO:0003281)	transcription factor complex (GO:0005667)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.V100I(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		GAGTGAACTCGTCATGAGGGC	0.423																																																	1	Substitution - Missense(1)	kidney(1)											98.0	96.0	97.0					1																	87805280		2203	4300	6503	SO:0001583	missense	8543			U24576	CCDS713.1	1p22.3	2008-02-05			ENSG00000143013	ENSG00000143013			6644	protein-coding gene	gene with protein product		603129					Standard	NM_006769		Approved		uc001dmi.3	P61968	OTTHUMG00000010248	ENST00000370544.5:c.298G>A	1.37:g.87805280G>A	ENSP00000359575:p.Val100Ile	Somatic		WXS	Illumina HiSeq	Phase_I	D3DT23|O00158|O88894	Missense_Mutation	SNP	ENST00000370544.5	37	CCDS713.1	.	.	.	.	.	.	.	.	.	.	G	36	5.829793	0.96996	.	.	ENSG00000143013	ENST00000370544;ENST00000370542	T;T	0.52526	0.66;0.66	5.93	5.93	0.95920	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	T	0.64768	0.2628	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.65627	-0.6122	10	0.87932	D	0	.	20.3311	0.98718	0.0:0.0:1.0:0.0	.	100	P61968	LMO4_HUMAN	I	100	ENSP00000359575:V100I;ENSP00000359573:V100I	ENSP00000359573:V100I	V	+	1	0	LMO4	87577868	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.866000	0.99616	2.797000	0.96272	0.655000	0.94253	GTC		0.423	LMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028264.2		NM_006769	
LCE1B	353132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	152785104	152785104	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:152785104G>C	ENST00000360090.3	+	1	658	c.182G>C	c.(181-183)gGc>gCc	p.G61A		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	61	Gly-rich.				keratinization (GO:0031424)			p.G61A(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAAGCTGTGGCTCCAGCTCT	0.652																																																	1	Substitution - Missense(1)	kidney(1)											56.0	64.0	61.0					1																	152785104		2203	4300	6503	SO:0001583	missense	353132			BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"""Late cornified envelopes"""	16611	protein-coding gene	gene with protein product		612604	"""small proline rich-like (epidermal differentiation complex) 2A"""	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.182G>C	1.37:g.152785104G>C	ENSP00000353203:p.Gly61Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A4IF40	Missense_Mutation	SNP	ENST00000360090.3	37	CCDS1027.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367480	0.24771	.	.	ENSG00000196734	ENST00000360090	T	0.03272	3.99	4.34	4.34	0.51931	.	.	.	.	.	T	0.01592	0.0051	L	0.29908	0.895	0.09310	N	1	B	0.28971	0.229	B	0.29176	0.099	T	0.42378	-0.9455	9	0.87932	D	0	.	12.2614	0.54652	0.0:0.0:1.0:0.0	.	61	Q5T7P3	LCE1B_HUMAN	A	61	ENSP00000353203:G61A	ENSP00000353203:G61A	G	+	2	0	LCE1B	151051728	0.442000	0.25633	0.227000	0.23927	0.947000	0.59692	3.352000	0.52239	2.244000	0.73946	0.585000	0.79938	GGC		0.652	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040060.1		NM_178349	
M6PR	4074	hgsc.bcm.edu	37	12	9098995	9098996	+	In_Frame_Ins	INS	-	-	AAC	rs3217106|rs373924445|rs149871778		TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr12:9098995_9098996insAAC	ENST00000000412.3	-	2	473_474	c.5_6insGTT	c.(4-6)ttc>ttGTTc	p.1_2insL		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	1					endosome to lysosome transport (GO:0008333)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	mannose binding (GO:0005537)|mannose transmembrane transporter activity (GO:0015578)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)	Alglucosidase alfa(DB01272)	TGTAGAAAGGGAACATCCTTTG	0.475														687	0.137181	0.0038	0.0576	5008	,	,		18966	0.3075		0.1123	False		,,,				2504	0.2239																0									,	106,4158		1,104,2027					,	2.9	0.3		dbSNP_106	77	857,7397		49,759,3319	no	coding,coding	M6PR	NM_002355.3,NM_001207024.1	,	50,863,5346	A1A1,A1R,RR		10.3828,2.4859,7.6929	,	,		963,11555				SO:0001652	inframe_insertion	4074				CCDS8598.1, CCDS73440.1	12p13.31	2013-09-20			ENSG00000003056	ENSG00000003056			6752	protein-coding gene	gene with protein product		154540					Standard	NM_002355		Approved		uc001qvf.3	P20645	OTTHUMG00000168276	ENST00000000412.3:c.3_5dupGTT	12.37:g.9098996_9098998dupAAC	ENSP00000000412:p.Met1_Phe2insLeu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K528|D3DUV5	In_Frame_Ins	INS	ENST00000000412.3	37	CCDS8598.1																																																																																				0.475	M6PR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399130.1			
MAGED2	10916	broad.mit.edu;hgsc.bcm.edu	37	X	54841822	54841822	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chrX:54841822G>C	ENST00000375068.1	+	12	1761	c.1528G>C	c.(1528-1530)Gag>Cag	p.E510Q	SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000375062.4_Missense_Mutation_p.E425Q|MAGED2_ENST00000218439.4_Missense_Mutation_p.E510Q|MAGED2_ENST00000396224.1_Missense_Mutation_p.E510Q|MAGED2_ENST00000375060.1_Missense_Mutation_p.E425Q|MAGED2_ENST00000375053.2_Missense_Mutation_p.E510Q|MAGED2_ENST00000347546.4_Missense_Mutation_p.E492Q|MAGED2_ENST00000375058.1_Missense_Mutation_p.E510Q			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	510						membrane (GO:0016020)		p.E510Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						GCTCGGCTCGGAGAATGCTGC	0.607																																																	1	Substitution - Missense(1)	kidney(1)											22.0	22.0	22.0					X																	54841822		2203	4299	6502	SO:0001583	missense	10916			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1528G>C	X.37:g.54841822G>C	ENSP00000364209:p.Glu510Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	ENST00000375068.1	37	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376967	0.61735	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.72051	3.46;3.46;3.58;-0.62;0.95;3.46;3.46;0.95;3.46	4.2	4.2	0.49525	.	0.000000	0.46442	D	0.000297	T	0.76335	0.3973	L	0.39898	1.24	0.29238	N	0.872839	D;D	0.76494	0.999;0.998	D;D	0.87578	0.998;0.995	T	0.71513	-0.4570	10	0.72032	D	0.01	.	11.1209	0.48289	0.0:0.0:1.0:0.0	.	425;510	Q5H907;Q9UNF1	.;MAGD2_HUMAN	Q	510;510;454;492;425;510;510;425;510	ENSP00000364209:E510Q;ENSP00000364193:E510Q;ENSP00000336962:E454Q;ENSP00000340290:E492Q;ENSP00000364202:E425Q;ENSP00000218439:E510Q;ENSP00000364198:E510Q;ENSP00000364200:E425Q;ENSP00000379526:E510Q	ENSP00000218439:E510Q	E	+	1	0	MAGED2	54858547	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.020000	0.57189	2.098000	0.63641	0.513000	0.50165	GAG		0.607	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2		NM_014599	
MAGEE1	57692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	75648791	75648791	+	Silent	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chrX:75648791C>T	ENST00000361470.2	+	1	746	c.468C>T	c.(466-468)gcC>gcT	p.A156A		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	156	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.A156A(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CGCCCACCGCCTCTGAGGTAC	0.687																																																	2	Substitution - coding silent(2)	kidney(2)											29.0	29.0	29.0					X																	75648791		2202	4291	6493	SO:0001819	synonymous_variant	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.468C>T	X.37:g.75648791C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	ENST00000361470.2	37	CCDS14433.1																																																																																				0.687	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1		NM_020932	
MAP1B	4131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	71494891	71494891	+	Silent	SNP	C	C	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr5:71494891C>A	ENST00000296755.7	+	5	6007	c.5709C>A	c.(5707-5709)ggC>ggA	p.G1903G		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1903					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.G1903G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATGTGGGTGGCTATTACTATG	0.458																																					Melanoma(17;367 822 11631 31730 47712)												1	Substitution - coding silent(1)	kidney(1)											61.0	66.0	64.0					5																	71494891		2203	4300	6503	SO:0001819	synonymous_variant	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5709C>A	5.37:g.71494891C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A2BDK5	Silent	SNP	ENST00000296755.7	37	CCDS4012.1																																																																																				0.458	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6		NM_005909	
MAPK8IP1	9479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	45925699	45925699	+	Silent	SNP	C	C	T	rs533033002		TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr11:45925699C>T	ENST00000241014.2	+	7	1823	c.1653C>T	c.(1651-1653)ccC>ccT	p.P551P	MAPK8IP1_ENST00000395629.2_Silent_p.P541P|RP11-618K13.2_ENST00000533218.1_RNA	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	551	Interaction with VRK2.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)	p.P551P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CCAAGGAGCCCGAGCACATGG	0.592													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19649	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											61.0	49.0	53.0					11																	45925699		2203	4299	6502	SO:0001819	synonymous_variant	9479				CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1653C>T	11.37:g.45925699C>T		Somatic		WXS	Illumina HiSeq	Phase_I	D3DQP4|O43407	Silent	SNP	ENST00000241014.2	37	CCDS7916.1																																																																																				0.592	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1		NM_005456	
MCC	4163	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	112437520	112437520	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr5:112437520C>T	ENST00000302475.4	-	6	1307	c.744G>A	c.(742-744)atG>atA	p.M248I	MCC_ENST00000408903.3_Missense_Mutation_p.M438I|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.M185I	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	248					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.M438I(1)|p.M248I(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TGCTGCACAGCATGGCAGTCA	0.602																																																	2	Substitution - Missense(2)	kidney(2)											134.0	129.0	131.0					5																	112437520		2202	4300	6502	SO:0001583	missense	4163				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.744G>A	5.37:g.112437520C>T	ENSP00000305617:p.Met248Ile	Somatic		WXS	Illumina HiSeq	Phase_I	D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844249	0.71488	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.49432	0.78;0.78;0.78	5.4	5.4	0.78164	Usher syndrome type-1C protein-binding protein 1, PDZ domain (1);	0.000000	0.85682	D	0.000000	T	0.49423	0.1556	N	0.14661	0.345	0.58432	D	0.999999	P;P;P	0.40180	0.705;0.656;0.705	P;P;P	0.52758	0.708;0.679;0.708	T	0.51309	-0.8722	10	0.46703	T	0.11	-34.17	19.5418	0.95277	0.0:1.0:0.0:0.0	.	248;438;248	B7Z6G0;P23508-2;P23508	.;.;CRCM_HUMAN	I	248;185;438	ENSP00000305617:M248I;ENSP00000421615:M185I;ENSP00000386227:M438I	ENSP00000305617:M248I	M	-	3	0	MCC	112465419	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.180000	0.71981	2.684000	0.91462	0.655000	0.94253	ATG		0.602	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3		NM_001085377	
MS4A14	84689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60183976	60183976	+	Missense_Mutation	SNP	C	C	A	rs555925241		TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr11:60183976C>A	ENST00000300187.6	+	5	1812	c.1535C>A	c.(1534-1536)tCc>tAc	p.S512Y	MS4A14_ENST00000395005.2_Missense_Mutation_p.S495Y|MS4A14_ENST00000531783.1_Missense_Mutation_p.S545Y|MS4A14_ENST00000531787.1_Missense_Mutation_p.S400Y	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	512	Gln-rich.					integral component of membrane (GO:0016021)		p.S512Y(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GGCCAGAAATCCTCAAAGAGG	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		22194	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											85.0	88.0	87.0					11																	60183976		2203	4299	6502	SO:0001583	missense	84689			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1535C>A	11.37:g.60183976C>A	ENSP00000300187:p.Ser512Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	C	0.533	-0.857011	0.02630	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.36520	1.25;2.43;1.25;2.8	3.49	1.48	0.22813	.	2.367760	0.02020	N	0.047704	T	0.29093	0.0723	L	0.45137	1.4	0.09310	N	1	P;P	0.37955	0.612;0.478	B;B	0.32342	0.144;0.069	T	0.16453	-1.0402	10	0.40728	T	0.16	-1.1237	4.545	0.12076	0.3834:0.5027:0.0:0.1139	.	495;512	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	Y	400;512;495;545	ENSP00000437222:S400Y;ENSP00000300187:S512Y;ENSP00000378453:S495Y;ENSP00000433761:S545Y	ENSP00000300187:S512Y	S	+	2	0	MS4A14	59940552	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.129000	0.15830	0.229000	0.21039	-0.142000	0.14014	TCC		0.443	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			
MTNR1B	4544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	92702959	92702959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr11:92702959C>A	ENST00000257068.2	+	1	74	c.68C>A	c.(67-69)tCg>tAg	p.S23*		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	23					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.S23*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CCGGGCTGGTCGGGGGCTGGC	0.726																																																	1	Substitution - Nonsense(1)	kidney(1)											8.0	10.0	10.0					11																	92702959		2128	4145	6273	SO:0001587	stop_gained	4544			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.68C>A	11.37:g.92702959C>A	ENSP00000257068:p.Ser23*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000257068.2	37	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602347	0.66445	.	.	ENSG00000134640	ENST00000257068	.	.	.	4.36	-3.14	0.05250	.	2.058560	0.02788	N	0.121732	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.8991	7.9467	0.29991	0.1025:0.4903:0.0:0.4072	.	.	.	.	X	23	.	ENSP00000257068:S23X	S	+	2	0	MTNR1B	92342607	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.046000	0.11983	-0.777000	0.04572	-1.644000	0.00765	TCG		0.726	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	8976796	8976796	+	Silent	SNP	T	T	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr19:8976796T>C	ENST00000397910.4	-	73	42473	c.42270A>G	c.(42268-42270)ccA>ccG	p.P14090P	MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Silent_p.P731P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14120				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P14090P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCCCATATCTGGTGAATACT	0.567																																																	1	Substitution - coding silent(1)	kidney(1)											113.0	111.0	112.0					19																	8976796		1964	4144	6108	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42270A>G	19.37:g.8976796T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.635	-0.074647	0.07184	.	.	ENSG00000181143	ENST00000542240	.	.	.	4.37	-1.65	0.08291	.	.	.	.	.	T	0.28333	0.0700	.	.	.	.	.	.	.	.	.	.	.	.	T	0.34453	-0.9828	3	.	.	.	.	4.2532	0.10705	0.1675:0.3978:0.0:0.4347	.	.	.	.	R	913	.	.	Q	-	2	0	MUC16	8837796	0.001000	0.12720	0.010000	0.14722	0.002000	0.02628	-0.071000	0.11505	-0.556000	0.06134	-0.473000	0.04963	CAG		0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
MYO16	23026	broad.mit.edu;ucsc.edu	37	13	109779862	109779862	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr13:109779862G>A	ENST00000357550.2	+	30	3990	c.3949G>A	c.(3949-3951)Gcc>Acc	p.A1317T	MYO16_ENST00000356711.2_Missense_Mutation_p.A1317T|MYO16_ENST00000457511.2_Missense_Mutation_p.A829T	NM_001198950.1	NP_001185879.1			myosin XVI									p.A1317T(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GGCTGTGAGCGCCTGCCTCTC	0.672																																																	1	Substitution - Missense(1)	kidney(1)											20.0	24.0	23.0					13																	109779862		2201	4300	6501	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3949G>A	13.37:g.109779862G>A	ENSP00000350160:p.Ala1317Thr	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179105	0.78564	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	T;T;T	0.50001	0.76;0.76;0.76	5.5	5.5	0.81552	.	0.000000	0.40385	U	0.001118	T	0.61640	0.2363	L	0.49640	1.575	0.58432	D	0.999999	D;D	0.76494	0.999;0.997	P;P	0.62014	0.897;0.791	T	0.57883	-0.7734	9	.	.	.	.	18.4132	0.90559	0.0:0.0:1.0:0.0	.	829;1317	F8W883;Q9Y6X6	.;MYO16_HUMAN	T	1317;1317;829	ENSP00000349145:A1317T;ENSP00000350160:A1317T;ENSP00000401633:A829T	.	A	+	1	0	MYO16	108577863	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	4.716000	0.61916	2.584000	0.87258	0.563000	0.77884	GCC		0.672	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1		NM_015011	
MYO5C	55930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	52571772	52571772	+	Nonsense_Mutation	SNP	C	C	A	rs201874016		TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr15:52571772C>A	ENST00000261839.7	-	3	399	c.238G>T	c.(238-240)Gag>Tag	p.E80*	MYO5C_ENST00000541028.1_5'UTR|MYO5C_ENST00000443683.2_5'UTR|MIR1266_ENST00000408125.1_RNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	80	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E80*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ACCGCGGGCTCGTGAAGATAG	0.507																																																	1	Substitution - Nonsense(1)	kidney(1)											77.0	76.0	76.0					15																	52571772		1921	4126	6047	SO:0001587	stop_gained	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.238G>T	15.37:g.52571772C>A	ENSP00000261839:p.Glu80*	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P1W8	Nonsense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	37	6.100769	0.97281	.	.	ENSG00000128833	ENST00000261839;ENST00000541028	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2366	0.98359	0.0:1.0:0.0:0.0	.	.	.	.	X	80;43	.	ENSP00000261839:E80X	E	-	1	0	MYO5C	50359064	1.000000	0.71417	0.994000	0.49952	0.807000	0.45602	7.794000	0.85869	2.792000	0.96026	0.557000	0.71058	GAG		0.507	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1		NM_018728	
NAGK	55577	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	71299849	71299849	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr2:71299849G>C	ENST00000244204.6	+	5	496	c.434G>C	c.(433-435)gGc>gCc	p.G145A	NAGK_ENST00000428360.2_3'UTR|NAGK_ENST00000418807.3_Missense_Mutation_p.G94A|NAGK_ENST00000443872.2_5'UTR|NAGK_ENST00000455662.2_Missense_Mutation_p.G191A|NAGK_ENST00000443938.2_Missense_Mutation_p.G145A			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	145	Substrate binding.				carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)	p.G145A(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	GGCTGCGGCGGCTGGGGCCAT	0.582																																																	1	Substitution - Missense(1)	kidney(1)											43.0	40.0	41.0					2																	71299849		2203	4300	6503	SO:0001583	missense	55577			AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.434G>C	2.37:g.71299849G>C	ENSP00000244204:p.Gly145Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Missense_Mutation	SNP	ENST00000244204.6	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	30|30	5.050286|5.050286	0.93740|0.93740	.|.	.|.	ENSG00000124357|ENSG00000124357	ENST00000443938|ENST00000244204;ENST00000455662;ENST00000418807;ENST00000529236	.|T;T;T;T	.|0.37915	.|1.17;1.17;1.17;1.17	5.57|5.57	5.57|5.57	0.84162|0.84162	.|ATPase, BadF/BadG/BcrA/BcrD type (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67192|0.67192	0.2867|0.2867	M|M	0.88775|0.88775	2.98|2.98	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.72743|0.72743	-0.4201|-0.4201	5|10	.|0.62326	.|D	.|0.03	-6.3637|-6.3637	17.0563|17.0563	0.86534|0.86534	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|145	.|Q9UJ70	.|NAGK_HUMAN	P|A	167|145;191;94;39	.|ENSP00000244204:G145A;ENSP00000389087:G191A;ENSP00000396070:G94A;ENSP00000431204:G39A	.|ENSP00000244204:G145A	A|G	+|+	1|2	0|0	NAGK|NAGK	71153357|71153357	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.880000|0.880000	0.50808|0.50808	9.285000|9.285000	0.95894|0.95894	2.620000|2.620000	0.88729|0.88729	0.563000|0.563000	0.77884|0.77884	GCT|GGC		0.582	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471889.1			
NCOR2	9612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	124839984	124839984	+	Silent	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr12:124839984G>A	ENST00000405201.1	-	24	3375	c.3375C>T	c.(3373-3375)atC>atT	p.I1125I	NCOR2_ENST00000404621.1_Silent_p.I1115I|NCOR2_ENST00000397355.1_Silent_p.I1116I|NCOR2_ENST00000429285.2_Silent_p.I1115I|NCOR2_ENST00000356219.3_Silent_p.I1132I|NCOR2_ENST00000404121.2_Silent_p.I686I			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1133					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.I1125I(1)|p.I1132I(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCACTTGGGAGATGGCACCTA	0.612																																																	2	Substitution - coding silent(2)	kidney(2)											54.0	64.0	61.0					12																	124839984		2012	4155	6167	SO:0001819	synonymous_variant	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3375C>T	12.37:g.124839984G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	CCDS41858.2																																																																																				0.612	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2		NM_006312	
NPHP1	4867	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	110922222	110922222	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr2:110922222G>T	ENST00000393272.3	-	8	911	c.814C>A	c.(814-816)Cta>Ata	p.L272I	NPHP1_ENST00000445609.2_Intron|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000417665.1_Intron|NPHP1_ENST00000316534.4_Missense_Mutation_p.L272I	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	272					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.L272I(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						AGAACTATTAGGTAGCAAAAC	0.458																																																	1	Substitution - Missense(1)	kidney(1)											169.0	168.0	169.0					2																	110922222		2203	4300	6503	SO:0001583	missense	4867			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.814C>A	2.37:g.110922222G>T	ENSP00000376953:p.Leu272Ile	Somatic		WXS	Illumina HiSeq	Phase_I	O14837	Missense_Mutation	SNP	ENST00000393272.3	37	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	G	5.299	0.240460	0.10023	.	.	ENSG00000144061	ENST00000316534;ENST00000393272	T;T	0.61274	0.12;0.12	4.17	-0.547	0.11836	.	0.822627	0.09596	U	0.780827	T	0.31295	0.0792	N	0.16478	0.41	0.09310	N	1	B;B	0.32968	0.272;0.392	B;B	0.28139	0.039;0.086	T	0.13926	-1.0491	10	0.20519	T	0.43	-0.0907	3.0481	0.06160	0.3957:0.0:0.4114:0.193	.	272;272	O15259;O15259-4	NPHP1_HUMAN;.	I	272	ENSP00000313169:L272I;ENSP00000376953:L272I	ENSP00000313169:L272I	L	-	1	2	NPHP1	110279511	0.003000	0.15002	0.000000	0.03702	0.007000	0.05969	1.357000	0.34090	-0.214000	0.10078	0.563000	0.77884	CTA		0.458	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3		NM_000272	
NTNG2	84628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	135102354	135102354	+	Silent	SNP	C	C	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr9:135102354C>A	ENST00000393229.3	+	4	1752	c.976C>A	c.(976-978)Cgg>Agg	p.R326R	NTNG2_ENST00000393228.4_Silent_p.R326R|NTNG2_ENST00000372179.3_Silent_p.R326R|NTNG2_ENST00000360670.3_Silent_p.R326R	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	326	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)		p.R326R(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TTTCCGCACCCGGTCCTGGCG	0.667																																																	1	Substitution - coding silent(1)	kidney(1)											36.0	33.0	34.0					9																	135102354		2203	4298	6501	SO:0001819	synonymous_variant	84628			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.976C>A	9.37:g.135102354C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	CCDS6946.1																																																																																				0.667	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1		NM_032536	
OAZ3	51686	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151740639	151740639	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:151740639G>T	ENST00000321531.5	+	4	441	c.274G>T	c.(274-276)Ggc>Tgc	p.G92C	OAZ3_ENST00000577465.1_3'UTR|OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000479764.1_Intron|RP11-98D18.2_ENST00000420382.1_RNA|RP11-98D18.16_ENST00000596133.1_RNA|OAZ3_ENST00000315067.8_Missense_Mutation_p.G92C|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000453029.2_Missense_Mutation_p.G105C			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	137					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of polyamine transmembrane transport (GO:1902268)|polyamine biosynthetic process (GO:0006596)|positive regulation of protein catabolic process (GO:0045732)|putrescine transport (GO:0015847)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of phosphoprotein phosphatase activity (GO:0043666)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ornithine decarboxylase inhibitor activity (GO:0008073)|putrescine transmembrane transporter activity (GO:0015489)	p.G136C(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	CCATTGGCACGGCCTTCTCTG	0.567																																																	1	Substitution - Missense(1)	kidney(1)											79.0	78.0	78.0					1																	151740639		1977	4136	6113	SO:0001583	missense	51686			AF175296	CCDS58028.1	1q21.3	2008-02-05			ENSG00000143450	ENSG00000143450			8097	protein-coding gene	gene with protein product		605138				10781085	Standard	NM_016178		Approved		uc010pdm.2	Q9UMX2	OTTHUMG00000013061	ENST00000321531.5:c.274G>T	1.37:g.151740639G>T	ENSP00000313922:p.Gly92Cys	Somatic		WXS	Illumina HiSeq	Phase_I	E7EUE7|Q6GMR0	Missense_Mutation	SNP	ENST00000321531.5	37	CCDS58028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.582824|4.582824	0.86748|0.86748	.|.	.|.	ENSG00000143450|ENSG00000143450	ENST00000315067;ENST00000321531|ENST00000453029	T|.	0.47869|.	0.83|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Acyl-CoA N-acyltransferase (1);|.	0.000000|.	0.64402|.	D|.	0.000007|.	T|T	0.49609|0.49609	0.1567|0.1567	L|L	0.38175|0.38175	1.15|1.15	0.46823|0.46823	D|D	0.999215|0.999215	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.37979|0.37979	-0.9682|-0.9682	10|5	0.72032|.	D|.	0.01|.	-21.888|-21.888	16.3795|16.3795	0.83443|0.83443	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	72;89|.	D3DV23;Q9UMX2|.	.;OAZ3_HUMAN|.	C|L	92;136|61	ENSP00000357820:G92C|.	ENSP00000357820:G92C|.	G|R	+|+	1|2	0|0	OAZ3|OAZ3	150007263|150007263	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	3.440000|3.440000	0.52886|0.52886	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.567	OAZ3-004	KNOWN	non_canonical_other|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276842.3		NM_016178	
OR10T2	128360	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	158368416	158368416	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:158368416C>G	ENST00000334438.1	-	1	840	c.841G>C	c.(841-843)Gtt>Ctt	p.V281L		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V281L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AAGGGAGTAACCACTGTGTAG	0.473																																																	1	Substitution - Missense(1)	kidney(1)											80.0	69.0	72.0					1																	158368416		2203	4300	6503	SO:0001583	missense	128360			AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.841G>C	1.37:g.158368416C>G	ENSP00000334115:p.Val281Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	C	5.248	0.231152	0.09969	.	.	ENSG00000186306	ENST00000334438	T	0.00227	8.5	4.57	1.6	0.23607	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37906	N	0.001882	T	0.00039	0.0001	L	0.42008	1.315	0.09310	N	1	B	0.21381	0.055	B	0.24006	0.05	T	0.41610	-0.9499	10	0.35671	T	0.21	.	4.4078	0.11418	0.0:0.414:0.3169:0.2691	.	281	Q8NGX3	O10T2_HUMAN	L	281	ENSP00000334115:V281L	ENSP00000334115:V281L	V	-	1	0	OR10T2	156635040	0.001000	0.12720	0.058000	0.19502	0.971000	0.66376	-0.168000	0.09925	0.157000	0.19338	0.655000	0.94253	GTT		0.473	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1		NM_001004475	
PAFAH1B1	5048	hgsc.bcm.edu	37	17	2577360	2577360	+	Silent	SNP	T	T	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr17:2577360T>C	ENST00000397195.5	+	8	1129	c.678T>C	c.(676-678)tgT>tgC	p.C226C	PAFAH1B1_ENST00000572915.2_3'UTR|PAFAH1B1_ENST00000451360.2_Silent_p.C55C	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)									p.C226C(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						ACAGCTACTGTGTGAAGACAT	0.418																																																	1	Substitution - coding silent(1)	kidney(1)											90.0	77.0	81.0					17																	2577360		2203	4300	6503	SO:0001819	synonymous_variant	5048			L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.678T>C	17.37:g.2577360T>C		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000397195.5	37	CCDS32528.1																																																																																				0.418	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2		NM_000430	
PDE4A	5141	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	10574570	10574570	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr19:10574570G>C	ENST00000352831.6	+	14	1955	c.1845G>C	c.(1843-1845)caG>caC	p.Q615H	PDE4A_ENST00000344979.3_Missense_Mutation_p.Q376H|PDE4A_ENST00000592685.1_Missense_Mutation_p.Q593H|PDE4A_ENST00000440014.2_Missense_Mutation_p.Q554H|PDE4A_ENST00000293683.5_Missense_Mutation_p.Q589H|PDE4A_ENST00000380702.2_Missense_Mutation_p.Q593H	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	615	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)	p.Q376H(1)|p.Q589H(1)|p.Q554H(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	AGTTCTTCCAGCAGGGTGACC	0.617																																																	3	Substitution - Missense(3)	kidney(3)											117.0	90.0	99.0					19																	10574570		2203	4300	6503	SO:0001583	missense	5141				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1845G>C	19.37:g.10574570G>C	ENSP00000270474:p.Gln615His	Somatic		WXS	Illumina HiSeq	Phase_I	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	g	12.73	2.025396	0.35701	.	.	ENSG00000065989	ENST00000419866;ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979;ENST00000380686	D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52	4.37	1.91	0.25777	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.302241	0.30126	N	0.010342	T	0.63780	0.2540	N	0.22421	0.69	0.41088	D	0.985579	B;B;B;B;B	0.16396	0.002;0.011;0.017;0.003;0.004	B;B;B;B;B	0.12837	0.001;0.008;0.003;0.003;0.006	T	0.56257	-0.8009	10	0.40728	T	0.16	.	5.8141	0.18481	0.211:0.1767:0.6123:0.0	.	281;376;554;589;615	P27815-5;P27815-4;P27815-6;P27815-2;P27815	.;.;.;.;PDE4A_HUMAN	H	57;593;615;589;554;376;281	ENSP00000370078:Q593H;ENSP00000270474:Q615H;ENSP00000293683:Q589H;ENSP00000394754:Q554H;ENSP00000341007:Q376H	ENSP00000293683:Q589H	Q	+	3	2	PDE4A	10435570	0.996000	0.38824	1.000000	0.80357	0.945000	0.59286	0.306000	0.19279	0.822000	0.34565	-0.471000	0.05019	CAG		0.617	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			
PHB2	11331	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7079388	7079388	+	Silent	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr12:7079388G>A	ENST00000535923.1	-	2	464	c.183C>T	c.(181-183)gaC>gaT	p.D61D	PHB2_ENST00000544134.1_5'UTR|PHB2_ENST00000399433.2_Silent_p.D61D|PHB2_ENST00000546111.1_Silent_p.D61D|SCARNA12_ENST00000459155.1_RNA|PHB2_ENST00000440277.1_Silent_p.D61D|PHB2_ENST00000542912.1_Silent_p.D61D|EMG1_ENST00000261406.6_5'Flank	NM_001144831.1	NP_001138303.1			prohibitin 2									p.D61D(1)		ovary(2)|pancreas(1)	3						CCAGGATAGTGTCCTGCTGCA	0.617																																																	1	Substitution - coding silent(1)	kidney(1)											130.0	137.0	135.0					12																	7079388		2055	4185	6240	SO:0001819	synonymous_variant	11331			AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.183C>T	12.37:g.7079388G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000535923.1	37	CCDS53741.1																																																																																				0.617	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400040.3		NM_007273	
PIP4K2C	79837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57995122	57995122	+	Silent	SNP	C	C	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr12:57995122C>G	ENST00000354947.5	+	9	1192	c.1176C>G	c.(1174-1176)gtC>gtG	p.V392V	PIP4K2C_ENST00000550465.1_Silent_p.V374V|PIP4K2C_ENST00000540759.2_Silent_p.V392V|PIP4K2C_ENST00000422156.3_Silent_p.V344V			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	392	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)	p.V392V(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CCAAAACTGTCAAGCATGGGG	0.478																																																	1	Substitution - coding silent(1)	kidney(1)											71.0	75.0	74.0					12																	57995122		2203	4300	6503	SO:0001819	synonymous_variant	79837			AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.1176C>G	12.37:g.57995122C>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2RDL3|B4DM11|B4DY44|Q9H6N2	Silent	SNP	ENST00000354947.5	37	CCDS8946.1																																																																																				0.478	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1		NM_024779	
PITPNM2	57605	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	123497230	123497232	+	In_Frame_Del	DEL	ATA	ATA	-			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	ATA	ATA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr12:123497230_123497232delATA	ENST00000542749.1	-	3	406_408	c.343_345delTAT	c.(343-345)tatdel	p.Y115del	PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000280562.5_In_Frame_Del_p.Y115del|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000320201.4_In_Frame_Del_p.Y115del|PITPNM2_ENST00000546049.1_In_Frame_Del_p.Y115del|MIR4304_ENST00000580964.1_RNA			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	115					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)	p.Y115F(1)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CATCAGTTTTATAAAAGGTTTCA	0.512																																																	1	Substitution - Missense(1)	lung(1)																																								SO:0001651	inframe_deletion	57605			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.343_345delTAT	12.37:g.123497230_123497232delATA	ENSP00000437611:p.Tyr115del	Somatic		WXS	Illumina HiSeq	Phase_I	Q9P271	In_Frame_Del	DEL	ENST00000542749.1	37	CCDS9242.1																																																																																				0.512	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1		NM_020845	
PLB1	151056	hgsc.bcm.edu;ucsc.edu	37	2	28752187	28752187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr2:28752187delT	ENST00000327757.5	+	7	373	c.329delT	c.(328-330)cttfs	p.L110fs	PLB1_ENST00000422425.2_Frame_Shift_Del_p.L110fs	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	110	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCTTTAGTCCTTTCAGACATC	0.502																																																	0													175.0	153.0	161.0					2																	28752187		2203	4300	6503	SO:0001589	frameshift_variant	151056				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.329delT	2.37:g.28752187delT	ENSP00000330442:p.Leu110fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Frame_Shift_Del	DEL	ENST00000327757.5	37	CCDS33168.1																																																																																				0.502	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			
POPDC2	64091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	119367299	119367299	+	Missense_Mutation	SNP	G	G	A	rs557421349		TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr3:119367299G>A	ENST00000264231.3	-	3	983	c.817C>T	c.(817-819)Ccc>Tcc	p.P273S	POPDC2_ENST00000538678.1_Missense_Mutation_p.P273S|POPDC2_ENST00000468801.1_Missense_Mutation_p.P273S|POPDC2_ENST00000493094.1_Missense_Mutation_p.P273S|POPDC2_ENST00000474523.1_5'UTR	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	273					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)	p.P273S(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		GCAGCAGTGGGACCCAGGACA	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		19002	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	kidney(1)											106.0	102.0	103.0					3																	119367299		2203	4300	6503	SO:0001583	missense	64091			AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.817C>T	3.37:g.119367299G>A	ENSP00000264231:p.Pro273Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q86UE7	Missense_Mutation	SNP	ENST00000264231.3	37	CCDS2992.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421248	0.25639	.	.	ENSG00000121577	ENST00000264231;ENST00000493094;ENST00000468801;ENST00000538678	T;T;T;T	0.18502	2.21;2.22;2.21;2.21	5.08	0.126	0.14722	.	0.164140	0.56097	N	0.000034	T	0.13114	0.0318	L	0.55743	1.74	0.41923	D	0.990525	B;B	0.31209	0.313;0.181	B;B	0.25140	0.058;0.042	T	0.07139	-1.0788	10	0.45353	T	0.12	.	7.1005	0.25333	0.263:0.1122:0.6248:0.0	.	273;273	Q9HBU9-2;Q9HBU9	.;POPD2_HUMAN	S	273	ENSP00000264231:P273S;ENSP00000417250:P273S;ENSP00000420715:P273S;ENSP00000438271:P273S	ENSP00000264231:P273S	P	-	1	0	POPDC2	120849989	0.997000	0.39634	0.393000	0.26258	0.506000	0.33950	2.404000	0.44539	0.056000	0.16144	0.561000	0.74099	CCC		0.562	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355378.1		NM_022135	
PPP2R2B	5521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	145969638	145969638	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr5:145969638C>A	ENST00000394413.3	-	9	1774	c.1204G>T	c.(1204-1206)Gac>Tac	p.D402Y	PPP2R2B_ENST00000356826.3_Missense_Mutation_p.D402Y|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.D460Y|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.D405Y|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.D402Y|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.D468Y|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.D391Y|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.D408Y|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.D402Y|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.D391Y			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	402					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.D460Y(1)|p.D391Y(1)|p.D402Y(1)|p.D405Y(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGATCTCGTCTTTTCTCCGC	0.498																																																	4	Substitution - Missense(4)	kidney(4)											157.0	165.0	162.0					5																	145969638		2203	4300	6503	SO:0001583	missense	5521			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.1204G>T	5.37:g.145969638C>A	ENSP00000377935:p.Asp402Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396473	0.62177	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	6.06	6.06	0.98353	WD40 repeat-like-containing domain (1);	0.044731	0.85682	D	0.000000	T	0.51686	0.1689	M	0.76574	2.34	0.80722	D	1	P;P;P;P;B;P	0.45827	0.867;0.867;0.778;0.867;0.108;0.867	P;P;P;P;B;P	0.51895	0.59;0.683;0.594;0.59;0.02;0.594	T	0.48768	-0.9006	10	0.62326	D	0.03	-15.7231	20.6208	0.99490	0.0:1.0:0.0:0.0	.	460;408;391;468;405;402	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	Y	402;391;468;402;402;402;391;405;408;460	ENSP00000377935:D402Y;ENSP00000431320:D391Y;ENSP00000377936:D468Y;ENSP00000377933:D402Y;ENSP00000349283:D402Y;ENSP00000398779:D402Y;ENSP00000377932:D391Y;ENSP00000336591:D405Y;ENSP00000421396:D408Y;ENSP00000377931:D460Y	ENSP00000336591:D405Y	D	-	1	0	AC011357.1	145949831	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.882000	0.98803	0.655000	0.94253	GAC		0.498	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2		NM_181678	
PRDM1	639	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	106553602	106553602	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr6:106553602G>A	ENST00000369096.4	+	5	1801	c.1567G>A	c.(1567-1569)Gcc>Acc	p.A523T	PRDM1_ENST00000369089.3_Missense_Mutation_p.A389T|PRDM1_ENST00000369091.2_Missense_Mutation_p.A487T	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	523					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A487T(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GGGAACAGCCGCCACGGCAGA	0.612			"""D, N, Mis, F, S"""		DLBCL																																			Rec	yes		6	6q21	639	"""PR domain containing 1, with ZNF domain"""		L	1	Substitution - Missense(1)	kidney(1)											28.0	32.0	31.0					6																	106553602		2203	4300	6503	SO:0001583	missense	639				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1567G>A	6.37:g.106553602G>A	ENSP00000358092:p.Ala523Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624792	0.87560	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.08896	3.06;3.04;3.05	5.74	4.86	0.63082	.	0.092749	0.85682	D	0.000000	T	0.15609	0.0376	M	0.62723	1.935	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.69479	0.964;0.922	T	0.01824	-1.1266	10	0.33141	T	0.24	-26.3198	16.6682	0.85258	0.0:0.1299:0.8701:0.0	.	389;523	Q86WM7;O75626	.;PRDM1_HUMAN	T	487;523;486;389	ENSP00000358087:A487T;ENSP00000358092:A523T;ENSP00000358085:A389T	ENSP00000358085:A389T	A	+	1	0	PRDM1	106660295	1.000000	0.71417	0.916000	0.36221	0.967000	0.64934	7.626000	0.83164	1.399000	0.46721	0.655000	0.94253	GCC		0.612	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			
PRPF8	10594	hgsc.bcm.edu;ucsc.edu	37	17	1559850	1559855	+	In_Frame_Del	DEL	GTAAGT	GTAAGT	-			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	GTAAGT	GTAAGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr17:1559850_1559855delGTAAGT	ENST00000572621.1	-	35	5889_5894	c.5624_5629delACTTAC	c.(5623-5631)cacttactg>ctg	p.HL1875del	PRPF8_ENST00000575116.1_5'Flank|PRPF8_ENST00000304992.6_In_Frame_Del_p.HL1875del			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1875	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.H1875R(1)|p.H1875P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGGAAGTCCAGTAAGTGCACCTAAGA	0.5																																																	2	Substitution - Missense(2)	endometrium(1)|kidney(1)																																								SO:0001651	inframe_deletion	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5624_5629delACTTAC	17.37:g.1559850_1559855delGTAAGT	ENSP00000460348:p.His1875_Leu1876del	Somatic		WXS	Illumina HiSeq	Phase_I	O14547|O75965	In_Frame_Del	DEL	ENST00000572621.1	37	CCDS11010.1																																																																																				0.500	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			
PTGR2	145482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	74327307	74327307	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr14:74327307delA	ENST00000555661.1	+	3	248	c.103delA	c.(103-105)aatfs	p.N35fs	RP5-1021I20.4_ENST00000556551.2_Frame_Shift_Del_p.N35fs|PTGR2_ENST00000267568.4_Frame_Shift_Del_p.N35fs|PTGR2_ENST00000553326.1_3'UTR|PTGR2_ENST00000553813.1_De_novo_Start_OutOfFrame|Y_RNA_ENST00000411368.1_RNA|PTGR2_ENST00000555228.1_Frame_Shift_Del_p.N35fs			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	35					prostaglandin metabolic process (GO:0006693)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9					Indomethacin(DB00328)	AGATAATATTAATGAAGGACA	0.284																																					Esophageal Squamous(98;1155 1417 16452 47043 47872)												0													67.0	74.0	72.0					14																	74327307		2202	4294	6496	SO:0001589	frameshift_variant	145482			AK096410	CCDS9820.1	14q24.1-q24.2	2008-06-04	2008-06-02	2008-06-03		ENSG00000140043			20149	protein-coding gene	gene with protein product		608642	"""zinc binding alcohol dehydrogenase domain containing 1"""	ZADH1		17449869	Standard	NM_152444		Approved	FLJ39091	uc001xow.3	Q8N8N7		ENST00000555661.1:c.103delA	14.37:g.74327307delA	ENSP00000452280:p.Asn35fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q3L8A4|Q6MZH8	Frame_Shift_Del	DEL	ENST00000555661.1	37	CCDS9820.1																																																																																				0.284	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412575.1			
PTPRU	10076	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	29585159	29585159	+	Silent	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:29585159C>T	ENST00000345512.3	+	3	477	c.348C>T	c.(346-348)acC>acT	p.T116T	PTPRU_ENST00000323874.8_Silent_p.T116T|PTPRU_ENST00000428026.2_Silent_p.T116T|PTPRU_ENST00000356870.3_Silent_p.T116T|PTPRU_ENST00000460170.2_Silent_p.T116T|PTPRU_ENST00000373779.3_Silent_p.T116T	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	116	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T116T(3)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCCCGGGCACCCTGGGCGTCT	0.627																																																	3	Substitution - coding silent(3)	kidney(3)											104.0	118.0	113.0					1																	29585159		2203	4300	6503	SO:0001819	synonymous_variant	10076			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.348C>T	1.37:g.29585159C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	CCDS334.1																																																																																				0.627	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			
QDPR	5860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	17506031	17506031	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr4:17506031C>T	ENST00000281243.5	-	3	445	c.266G>A	c.(265-267)gGa>gAa	p.G89E	QDPR_ENST00000508623.1_Missense_Mutation_p.G89E|QDPR_ENST00000513615.1_Missense_Mutation_p.G89E|QDPR_ENST00000428702.2_Missense_Mutation_p.G58E	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	89					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)	p.G89E(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						CCCGGCCCATCCTCCAGCAAC	0.468																																																	1	Substitution - Missense(1)	kidney(1)											144.0	131.0	135.0					4																	17506031		2203	4300	6503	SO:0001583	missense	5860			AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	9752	protein-coding gene	gene with protein product	"""6,7-dihydropteridine reductase"", ""short chain dehydrogenase/reductase family 33C, member 1"""	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.266G>A	4.37:g.17506031C>T	ENSP00000281243:p.Gly89Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K158|B3KW71|Q53F52|Q9H3M5	Missense_Mutation	SNP	ENST00000281243.5	37	CCDS3421.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.9|26.9	4.784146|4.784146	0.90282|0.90282	.|.	.|.	ENSG00000151552|ENSG00000151552	ENST00000505710|ENST00000513615;ENST00000281243;ENST00000428702;ENST00000508623	.|D;D;D;D	.|0.94828	.|-3.53;-2.26;-3.53;-3.53	5.5|5.5	5.5|5.5	0.81552|0.81552	.|NAD(P)-binding domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98015|0.98015	0.9346|0.9346	M|M	0.94021|0.94021	3.485|3.485	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.98350|0.98350	1.0543|1.0543	5|10	.|0.51188	.|T	.|0.08	-0.05|-0.05	18.1678|18.1678	0.89734|0.89734	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|58;89	.|B3KW71;P09417	.|.;DHPR_HUMAN	N|E	65|89;89;58;89	.|ENSP00000422759:G89E;ENSP00000281243:G89E;ENSP00000390944:G58E;ENSP00000426377:G89E	.|ENSP00000281243:G89E	D|G	-|-	1|2	0|0	QDPR|QDPR	17115129|17115129	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	6.678000|6.678000	0.74508|0.74508	2.575000|2.575000	0.86900|0.86900	0.563000|0.563000	0.77884|0.77884	GAT|GGA		0.468	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250372.1		NM_000320	
RASGEF1B	153020	hgsc.bcm.edu	37	4	82366985	82366985	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr4:82366985T>C	ENST00000264400.2	-	7	888	c.737A>G	c.(736-738)tAc>tGc	p.Y246C	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.Y204C|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.Y245C	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	246	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.Y246C(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						CCGTTCACTGTAGCAACTCTT	0.378																																																	1	Substitution - Missense(1)	kidney(1)											79.0	75.0	77.0					4																	82366985		2202	4300	6502	SO:0001583	missense	153020			AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.737A>G	4.37:g.82366985T>C	ENSP00000264400:p.Tyr246Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.773966	0.49786	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	T;T;T;T	0.77620	-0.7;-0.71;-1.11;0.32	5.65	4.44	0.53790	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.280119	0.41396	D	0.000886	D	0.83778	0.5328	M	0.66439	2.03	0.80722	D	1	P;P;P	0.44659	0.808;0.808;0.84	P;P;P	0.58520	0.753;0.753;0.84	T	0.82382	-0.0485	10	0.39692	T	0.17	.	11.757	0.51880	0.1321:0.0:0.0:0.8679	.	204;245;246	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	C	245;246;204;91	ENSP00000425393:Y245C;ENSP00000264400:Y246C;ENSP00000338437:Y204C;ENSP00000426929:Y91C	ENSP00000264400:Y246C	Y	-	2	0	RASGEF1B	82586009	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	3.711000	0.54868	1.115000	0.41800	0.533000	0.62120	TAC		0.378	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1		NM_152545	
RCC2	55920	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	17748729	17748729	+	Silent	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:17748729G>A	ENST00000375436.4	-	6	901	c.714C>T	c.(712-714)aaC>aaT	p.N238N	RCC2_ENST00000375433.3_Silent_p.N238N	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	238					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)	p.N238N(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CGTCTGTCTGGTTGCCAAGGC	0.502																																																	1	Substitution - coding silent(1)	kidney(1)											68.0	84.0	79.0					1																	17748729		2203	4300	6503	SO:0001819	synonymous_variant	55920				CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.714C>T	1.37:g.17748729G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q8IVL9|Q9BSN6|Q9NPV8	Silent	SNP	ENST00000375436.4	37	CCDS181.1																																																																																				0.502	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1		NM_018715	
RHCG	51458	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	90022631	90022631	+	Silent	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr15:90022631G>A	ENST00000268122.4	-	5	827	c.759C>T	c.(757-759)acC>acT	p.T253T	RHCG_ENST00000544600.1_Silent_p.T253T	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	253					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.T253T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					AGGAGCAGTAGGTGTTGATGG	0.597																																																	1	Substitution - coding silent(1)	kidney(1)											117.0	80.0	93.0					15																	90022631		2200	4299	6499	SO:0001819	synonymous_variant	51458			AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.759C>T	15.37:g.90022631G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K4D4|Q6X3Y4	Silent	SNP	ENST00000268122.4	37	CCDS10351.1																																																																																				0.597	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2		NM_016321	
RPL23AP53	644128	broad.mit.edu	37	8	163325	163325	+	RNA	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr8:163325C>T	ENST00000606975.1	-	0	596									ribosomal protein L23a pseudogene 53																		TTCTCTTTATCAGGAAAAATC	0.443																																																	0																																												644128					8p23.3	2014-06-17			ENSG00000223508	ENSG00000223508			35921	pseudogene	pseudogene						19123937	Standard	NR_003572		Approved		uc010lrb.4				8.37:g.163325C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000606975.1	37																																																																																					0.443	RPL23AP53-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470409.1		NR_003572	
RP1	6101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	55542521	55542521	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr8:55542521G>A	ENST00000220676.1	+	4	6227	c.6079G>A	c.(6079-6081)Gat>Aat	p.D2027N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2027					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.D2027N(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATTTCAACCAGATTTGAAGGA	0.338																																					Colon(91;1014 1389 7634 14542 40420)												1	Substitution - Missense(1)	kidney(1)											82.0	87.0	85.0					8																	55542521		2202	4299	6501	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6079G>A	8.37:g.55542521G>A	ENSP00000220676:p.Asp2027Asn	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	1.169	-0.641453	0.03531	.	.	ENSG00000104237	ENST00000220676	T	0.20738	2.05	5.82	0.76	0.18442	.	0.442134	0.19270	N	0.118438	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30060	-0.9991	10	0.17832	T	0.49	.	1.8638	0.03194	0.132:0.1221:0.2935:0.4524	.	2027	P56715	RP1_HUMAN	N	2027	ENSP00000220676:D2027N	ENSP00000220676:D2027N	D	+	1	0	RP1	55705074	0.000000	0.05858	0.100000	0.21137	0.007000	0.05969	-0.276000	0.08514	0.111000	0.17947	-1.083000	0.02208	GAT		0.338	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2		NM_006269	
RREB1	6239	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	7229380	7229380	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr6:7229380G>A	ENST00000349384.6	+	10	1362	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	RREB1_ENST00000379933.3_Missense_Mutation_p.A350T|RREB1_ENST00000379938.2_Missense_Mutation_p.A350T|RREB1_ENST00000334984.6_Missense_Mutation_p.A350T	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	350					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A350T(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AAAGCCGCAGGCCACGCCCCT	0.652																																																	2	Substitution - Missense(2)	kidney(2)											31.0	32.0	31.0					6																	7229380		2203	4300	6503	SO:0001583	missense	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1048G>A	6.37:g.7229380G>A	ENSP00000305560:p.Ala350Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	1.121	-0.655395	0.03480	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.10477	3.02;2.97;3.02;2.87;3.0	5.7	1.41	0.22369	.	0.533755	0.16719	N	0.202343	T	0.02047	0.0064	L	0.43923	1.385	0.09310	N	1	B;B;B	0.11235	0.004;0.003;0.002	B;B;B	0.14578	0.011;0.003;0.008	T	0.45011	-0.9290	10	0.15952	T	0.53	-17.6116	2.2648	0.04076	0.1545:0.1052:0.3601:0.3802	.	350;350;350	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	T	350	ENSP00000369265:A350T;ENSP00000369270:A350T;ENSP00000305560:A350T;ENSP00000335574:A350T;ENSP00000419511:A350T	ENSP00000335574:A350T	A	+	1	0	RREB1	7174379	0.016000	0.18221	0.022000	0.16811	0.258000	0.26162	0.208000	0.17415	0.742000	0.32697	0.455000	0.32223	GCC		0.652	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			
RSAD2	91543	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	7023569	7023569	+	Silent	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr2:7023569G>A	ENST00000382040.3	+	2	550	c.414G>A	c.(412-414)aaG>aaA	p.K138K	RSAD2_ENST00000541728.1_Silent_p.K31K	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2									p.K138K(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		ACCTGGGCAAGTTGGTGAGGT	0.502																																																	1	Substitution - coding silent(1)	kidney(1)											114.0	110.0	112.0					2																	7023569		2203	4300	6503	SO:0001819	synonymous_variant	91543			AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.414G>A	2.37:g.7023569G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000382040.3	37	CCDS1656.1																																																																																				0.502	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2		NM_080657	
RYR1	6261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39038896	39038896	+	Missense_Mutation	SNP	G	G	A	rs374441925		TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr19:39038896G>A	ENST00000359596.3	+	89	12118	c.12118G>A	c.(12118-12120)Gcc>Acc	p.A4040T	RYR1_ENST00000360985.3_Missense_Mutation_p.A4035T|RYR1_ENST00000355481.4_Missense_Mutation_p.A4035T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4040					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.A4040T(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CGGCATGATCGCCCGGCAGAT	0.577																																																	2	Substitution - Missense(2)	endometrium(1)|kidney(1)						G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	147.0	106.0	120.0		12118,12103	4.2	1.0	19		120	0,8600		0,0,4300	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	4040/5039,4035/5034	39038896	1,13005	2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12118G>A	19.37:g.39038896G>A	ENSP00000352608:p.Ala4040Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331379	0.60853	2.27E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.65549	-0.16;-0.16;-0.16	4.19	4.19	0.49359	.	0.000000	0.64402	U	0.000003	T	0.67822	0.2934	L	0.38175	1.15	0.48511	D	0.999669	D;D;D	0.71674	0.998;0.996;0.992	P;P;P	0.59115	0.852;0.688;0.491	T	0.72978	-0.4127	10	0.87932	D	0	.	16.7047	0.85368	0.0:0.0:1.0:0.0	.	4035;4035;4040	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	T	4040;4035;4035	ENSP00000352608:A4040T;ENSP00000347667:A4035T;ENSP00000354254:A4035T	ENSP00000347667:A4035T	A	+	1	0	RYR1	43730736	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	9.520000	0.98027	2.344000	0.79699	0.561000	0.74099	GCC		0.577	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			
RUVBL2	10856	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49510383	49510383	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr19:49510383G>C	ENST00000595090.1	+	5	838	c.374G>C	c.(373-375)cGg>cCg	p.R125P	RUVBL2_ENST00000413176.2_Missense_Mutation_p.R80P|RUVBL2_ENST00000601968.1_Missense_Mutation_p.R80P	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	125					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)	p.R125P(1)		large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GCCTTCCGGCGGTCCATCGGC	0.677																																																	1	Substitution - Missense(1)	kidney(1)											39.0	44.0	42.0					19																	49510383		1981	4153	6134	SO:0001583	missense	10856			AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.374G>C	19.37:g.49510383G>C	ENSP00000473172:p.Arg125Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763917	0.49574	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.52526	0.66;0.66	5.51	5.51	0.81932	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.051815	0.64402	D	0.000001	T	0.66317	0.2777	H	0.96518	3.835	0.50813	D	0.999897	B;B;B	0.26483	0.15;0.021;0.068	B;B;B	0.30029	0.11;0.048;0.047	T	0.72484	-0.4279	10	0.87932	D	0	-29.8332	17.2848	0.87138	0.0:0.0:1.0:0.0	.	125;125;91	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	P	125;80	ENSP00000221413:R125P;ENSP00000413890:R80P	ENSP00000221413:R125P	R	+	2	0	RUVBL2	54202195	0.998000	0.40836	0.781000	0.31783	0.445000	0.32107	5.722000	0.68485	2.768000	0.95171	0.561000	0.74099	CGG		0.677	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			
SCAI	286205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	127733961	127733961	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr9:127733961G>A	ENST00000336505.6	-	16	1620	c.1562C>T	c.(1561-1563)tCa>tTa	p.S521L	SCAI_ENST00000373549.4_Missense_Mutation_p.S544L	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	521					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.S544L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TATTGAACGTGAATGAGTCAG	0.363																																																	1	Substitution - Missense(1)	kidney(1)											188.0	171.0	176.0					9																	127733961		1881	4110	5991	SO:0001583	missense	286205			AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.1562C>T	9.37:g.127733961G>A	ENSP00000336756:p.Ser521Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.077648	0.55753	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.50277	0.75;0.75	4.94	4.94	0.65067	.	0.132741	0.52532	D	0.000063	T	0.68238	0.2979	M	0.74881	2.28	0.58432	D	0.999993	D;D	0.59357	0.985;0.981	D;D	0.69824	0.966;0.962	T	0.68006	-0.5523	10	0.39692	T	0.17	-8.0307	17.5387	0.87841	0.0:0.0:1.0:0.0	.	521;544	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	L	521;544	ENSP00000336756:S521L;ENSP00000362650:S544L	ENSP00000336756:S521L	S	-	2	0	SCAI	126773782	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.996000	0.93539	2.461000	0.83175	0.650000	0.86243	TCA		0.363	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3		NM_173690	
SEL1L3	23231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	25834685	25834685	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr4:25834685C>T	ENST00000399878.3	-	5	1152	c.1030G>A	c.(1030-1032)Gta>Ata	p.V344I	SEL1L3_ENST00000502949.1_Missense_Mutation_p.V191I|SEL1L3_ENST00000264868.5_Missense_Mutation_p.V309I|SEL1L3_ENST00000513364.1_5'UTR	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	344						integral component of membrane (GO:0016021)		p.V344I(1)|p.V191I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TTAGTTTTTACAGCAAGGTCT	0.388																																																	2	Substitution - Missense(2)	kidney(2)											120.0	117.0	118.0					4																	25834685		1909	4115	6024	SO:0001583	missense	23231			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1030G>A	4.37:g.25834685C>T	ENSP00000382767:p.Val344Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042139	0.93685	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.16897	2.31;2.31;2.31	5.88	5.88	0.94601	.	0.114667	0.64402	D	0.000018	T	0.31263	0.0791	L	0.60455	1.87	0.37891	D	0.930709	D	0.63046	0.992	P	0.52627	0.704	T	0.04115	-1.0976	10	0.62326	D	0.03	-20.4352	17.1608	0.86803	0.0:1.0:0.0:0.0	.	344	Q68CR1	SE1L3_HUMAN	I	344;309;191	ENSP00000382767:V344I;ENSP00000264868:V309I;ENSP00000425438:V191I	ENSP00000264868:V309I	V	-	1	0	SEL1L3	25443783	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.413000	0.59795	2.774000	0.95407	0.655000	0.94253	GTA		0.388	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1		NM_015187	
SETD5	55209	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	9495474	9495474	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr3:9495474C>A	ENST00000406341.1	+	16	2588	c.2398C>A	c.(2398-2400)Ccc>Acc	p.P800T	SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402466.1_Missense_Mutation_p.P702T|SETD5_ENST00000407969.1_Missense_Mutation_p.P819T|SETD5_ENST00000302463.6_Missense_Mutation_p.P702T|SETD5_ENST00000402198.1_Missense_Mutation_p.P800T			Q9C0A6	SETD5_HUMAN	SET domain containing 5	800								p.P800T(1)|p.P702T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ATCATCTGTACCCCAAGAGAC	0.363																																																	2	Substitution - Missense(2)	kidney(2)											119.0	116.0	117.0					3																	9495474		1877	4102	5979	SO:0001583	missense	55209			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2398C>A	3.37:g.9495474C>A	ENSP00000383939:p.Pro800Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.46|15.46	2.838856|2.838856	0.51057|0.51057	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463|ENST00000399686;ENST00000421188	D;D;D;D;D|.	0.92965|.	-2.8;-3.14;-2.8;-2.77;-3.14|.	5.52|5.52	4.63|4.63	0.57726|0.57726	.|.	0.178095|.	0.51477|.	D|.	0.000093|.	T|T	0.47060|0.47060	0.1425|0.1425	L|L	0.29908|0.29908	0.895|0.895	0.34479|0.34479	D|D	0.703626|0.703626	P;B;B;B|.	0.40534|.	0.72;0.167;0.041;0.043|.	P;B;B;B|.	0.46419|.	0.516;0.169;0.031;0.057|.	T|T	0.57347|0.57347	-0.7827|-0.7827	10|5	0.72032|.	D|.	0.01|.	-3.3143|-3.3143	12.011|12.011	0.53286|0.53286	0.0:0.8587:0.0:0.1413|0.0:0.8587:0.0:0.1413	.|.	469;702;800;819|.	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3|.	.;.;SETD5_HUMAN;.|.	T|N	800;702;800;819;702|467;111	ENSP00000385852:P800T;ENSP00000384429:P702T;ENSP00000383939:P800T;ENSP00000384114:P819T;ENSP00000302028:P702T|.	ENSP00000302028:P702T|.	P|T	+|+	1|2	0|0	SETD5|SETD5	9470474|9470474	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.127000|1.127000	0.31357|0.31357	1.440000|1.440000	0.47531|0.47531	0.655000|0.655000	0.94253|0.94253	CCC|ACC		0.363	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1		XM_371614	
SHC2	25759	broad.mit.edu;hgsc.bcm.edu	37	19	422337	422337	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr19:422337G>T	ENST00000264554.6	-	11	1428	c.1429C>A	c.(1429-1431)Ccc>Acc	p.P477T		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	477	CH1.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)		p.P838T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCCGTGGGGGCCACAGGG	0.692																																																	1	Substitution - Missense(1)	kidney(1)											8.0	10.0	10.0					19																	422337		1973	4110	6083	SO:0001583	missense	25759			AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1429C>A	19.37:g.422337G>T	ENSP00000264554:p.Pro477Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	ENST00000264554.6	37	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900163	0.33535	.	.	ENSG00000129946	ENST00000264554	T	0.63096	-0.02	4.75	4.75	0.60458	.	0.106801	0.64402	D	0.000003	T	0.61640	0.2363	M	0.75447	2.3	0.80722	D	1	B	0.25390	0.125	B	0.20955	0.032	T	0.59537	-0.7436	10	0.18276	T	0.48	-35.3987	17.187	0.86869	0.0:0.0:1.0:0.0	.	477	P98077	SHC2_HUMAN	T	477	ENSP00000264554:P477T	ENSP00000264554:P477T	P	-	1	0	SHC2	373337	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.181000	0.58303	2.575000	0.86900	0.651000	0.88453	CCC		0.692	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			
SHANK1	50944	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51215207	51215207	+	Silent	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr19:51215207G>A	ENST00000293441.1	-	6	975	c.957C>T	c.(955-957)caC>caT	p.H319H	SHANK1_ENST00000391814.1_Silent_p.H319H|SHANK1_ENST00000359082.3_Silent_p.H319H	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	319					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.H319H(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGAGCACCTGGTGGATTTCCT	0.642																																																	1	Substitution - coding silent(1)	kidney(1)											64.0	73.0	70.0					19																	51215207		2203	4300	6503	SO:0001819	synonymous_variant	50944			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.957C>T	19.37:g.51215207G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	CCDS12799.1																																																																																				0.642	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1		NM_016148	
SLC17A6	57084	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	22397594	22397594	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr11:22397594C>A	ENST00000263160.3	+	10	1678	c.1241C>A	c.(1240-1242)tCa>tAa	p.S414*		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	414					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.S414L(1)|p.S414*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GTAGCAATCTCATTCTTGGTA	0.393																																																	2	Substitution - Missense(1)|Substitution - Nonsense(1)	kidney(1)|skin(1)											178.0	184.0	182.0					11																	22397594		2203	4300	6503	SO:0001587	stop_gained	57084			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1241C>A	11.37:g.22397594C>A	ENSP00000263160:p.Ser414*	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKS2	Nonsense_Mutation	SNP	ENST00000263160.3	37	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	C	43	9.869788	0.99284	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	414;302	.	ENSP00000263160:S414X	S	+	2	0	SLC17A6	22354170	1.000000	0.71417	0.974000	0.42286	0.994000	0.84299	7.817000	0.86213	2.941000	0.99782	0.655000	0.94253	TCA		0.393	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1		NM_020346	
SLC26A11	284129	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	78215586	78215586	+	Silent	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr17:78215586C>T	ENST00000361193.3	+	10	1282	c.1002C>T	c.(1000-1002)taC>taT	p.Y334Y	SLC26A11_ENST00000572725.1_Silent_p.Y334Y|SLC26A11_ENST00000411502.3_Silent_p.Y334Y|SLC26A11_ENST00000546047.2_Silent_p.Y334Y	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11									p.Y334Y(1)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGAATAATTACCGCATCGATG	0.512																																																	1	Substitution - coding silent(1)	kidney(1)											122.0	125.0	124.0					17																	78215586		2203	4300	6503	SO:0001819	synonymous_variant	284129				CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.1002C>T	17.37:g.78215586C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000361193.3	37	CCDS11771.2																																																																																				0.512	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			
SLC38A2	54407	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	46760917	46760917	+	Silent	SNP	T	T	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr12:46760917T>C	ENST00000256689.5	-	6	867	c.423A>G	c.(421-423)gcA>gcG	p.A141A	SLC38A2_ENST00000547252.1_5'UTR|SLC38A2_ENST00000551374.1_5'Flank	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	141					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)	p.A141A(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		CTAATCCAAATGCCTTATATC	0.328																																					Ovarian(9;448 492 8335 28722 40361)												1	Substitution - coding silent(1)	kidney(1)											100.0	105.0	103.0					12																	46760917		2203	4300	6503	SO:0001819	synonymous_variant	54407			AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.423A>G	12.37:g.46760917T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	ENST00000256689.5	37	CCDS8749.1																																																																																				0.328	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			
SLC6A3	6531	hgsc.bcm.edu;ucsc.edu	37	5	1443043	1443044	+	Frame_Shift_Ins	INS	-	-	CACA			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr5:1443043_1443044insCACA	ENST00000270349.9	-	2	396_397	c.269_270insTGTG	c.(268-270)tgcfs	p.-90fs	SLC6A3_ENST00000453492.2_Frame_Shift_Ins_p.-90fs	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3						adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CATTTTTGTAGCACAGGTAGGG	0.624																																																	0																																										SO:0001589	frameshift_variant	6531				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.266_269dupTGTG	5.37:g.1443044_1443047dupCACA	ENSP00000270349:p.Cys90fs	Somatic		WXS	Illumina HiSeq	Phase_I	A2RUN4|Q14996	Frame_Shift_Ins	INS	ENST00000270349.9	37	CCDS3863.1																																																																																				0.624	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3		NM_001044	
SLITRK5	26050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	88329649	88329649	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr13:88329649G>A	ENST00000325089.6	+	2	2225	c.2006G>A	c.(2005-2007)aGc>aAc	p.S669N	SLITRK5_ENST00000400028.3_Missense_Mutation_p.S428N	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	669					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.S669N(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TTAATTCTCAGCCTCCTGCTG	0.637																																																	1	Substitution - Missense(1)	kidney(1)											135.0	134.0	134.0					13																	88329649		2203	4300	6503	SO:0001583	missense	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2006G>A	13.37:g.88329649G>A	ENSP00000366283:p.Ser669Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174271	0.94807	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.60672	0.17;0.51	5.47	5.47	0.80525	.	0.046290	0.85682	D	0.000000	T	0.71600	0.3359	M	0.69358	2.11	0.54753	D	0.999987	D;P	0.55605	0.972;0.949	P;P	0.60173	0.87;0.87	T	0.71303	-0.4633	9	.	.	.	-18.483	16.8036	0.85620	0.0:0.0:1.0:0.0	.	428;669	B4DSH5;O94991	.;SLIK5_HUMAN	N	669;428	ENSP00000366283:S669N;ENSP00000442244:S428N	.	S	+	2	0	SLITRK5	87127650	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.893000	0.87330	2.554000	0.86153	0.555000	0.69702	AGC		0.637	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			
SNRPN	6638	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	25220568	25220568	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr15:25220568G>T	ENST00000400100.1	+	8	957	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	SNRPN_ENST00000444203.2_Missense_Mutation_p.D27Y|SNRPN_ENST00000400098.1_Missense_Mutation_p.D23Y|SNRPN_ENST00000346403.6_Missense_Mutation_p.D23Y|SNRPN_ENST00000400097.1_Missense_Mutation_p.D23Y|SNRPN_ENST00000390687.4_Missense_Mutation_p.D23Y|SNURF_ENST00000338094.6_3'UTR|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000554227.2_Missense_Mutation_p.D27Y|SNRPN_ENST00000577565.1_Missense_Mutation_p.D23Y	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	23					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)	p.D23Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TATCCTGCAAGATGGCCGAAT	0.418									Prader-Willi syndrome																																								1	Substitution - Missense(1)	kidney(1)											174.0	167.0	169.0					15																	25220568		2203	4300	6503	SO:0001583	missense	6638	Familial Cancer Database	Prader-Labhart-Willi syndrome	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.67G>T	15.37:g.25220568G>T	ENSP00000382972:p.Asp23Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265292	0.59431	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	3.33	3.33	0.38152	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.80954	0.4723	H	0.99535	4.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88263	0.2924	10	0.87932	D	0	-13.1947	12.9263	0.58262	0.0:0.0:1.0:0.0	.	27;23	B3KVR1;P63162	.;RSMN_HUMAN	Y	23;23;23;27;23;27	ENSP00000382972:D23Y;ENSP00000382970:D23Y;ENSP00000382969:D23Y;ENSP00000452342:D27Y;ENSP00000375105:D23Y;ENSP00000408767:D27Y	ENSP00000375105:D23Y	D	+	1	0	SNRPN	22771661	1.000000	0.71417	0.086000	0.20670	0.660000	0.38997	8.722000	0.91452	2.143000	0.66587	0.591000	0.81541	GAT		0.418	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10		NM_003097	
SOX4	6659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	21594792	21594792	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr6:21594792G>C	ENST00000244745.1	+	1	821	c.27G>C	c.(25-27)gaG>gaC	p.E9D	SOX4_ENST00000543472.1_Missense_Mutation_p.E9D	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	9					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.E9D(1)		kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			ACAATGCCGAGAACACGGAAG	0.761																																																	1	Substitution - Missense(1)	kidney(1)											9.0	10.0	10.0					6																	21594792		2092	4078	6170	SO:0001583	missense	6659			AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"""SRY (sex determining region Y)-boxes"""	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.27G>C	6.37:g.21594792G>C	ENSP00000244745:p.Glu9Asp	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000244745.1	37	CCDS4547.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265700	0.80358	.	.	ENSG00000124766	ENST00000244745;ENST00000543472	D;D	0.98075	-4.7;-4.7	5.0	5.0	0.66597	.	0.462322	0.20818	U	0.085112	D	0.97845	0.9292	L	0.58583	1.82	0.40144	D	0.976864	D	0.76494	0.999	D	0.63793	0.918	D	0.98417	1.0575	10	0.52906	T	0.07	.	17.0721	0.86577	0.0:0.0:1.0:0.0	.	9	Q06945	SOX4_HUMAN	D	9	ENSP00000244745:E9D;ENSP00000438412:E9D	ENSP00000244745:E9D	E	+	3	2	SOX4	21702771	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.158000	0.58150	2.305000	0.77605	0.555000	0.69702	GAG		0.761	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1		NM_003107	
SP8	221833	broad.mit.edu	37	7	20824858	20824858	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr7:20824858delA	ENST00000361443.4	-	3	761	c.524delT	c.(523-525)atcfs	p.I175fs	SP8_ENST00000418710.2_Frame_Shift_Del_p.I193fs	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	175					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						CCGCGGGTAGATGCCCTGCAG	0.736																																																	0													7.0	8.0	8.0					7																	20824858		1764	3507	5271	SO:0001589	frameshift_variant	221833				CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.524delT	7.37:g.20824858delA	ENSP00000354482:p.Ile175fs	Somatic		WXS	Illumina GAIIx	Phase_I	Q7Z615|Q7Z616|Q96MJ1	Frame_Shift_Del	DEL	ENST00000361443.4	37	CCDS5372.1																																																																																				0.736	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			
SPSB3	90864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1827748	1827748	+	Splice_Site	SNP	C	C	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr16:1827748C>G	ENST00000566339.1	-	6	1051	c.721G>C	c.(721-723)Ggt>Cgt	p.G241R	SPSB3_ENST00000301717.4_Splice_Site_p.G241R	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	241	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.G241R(2)		endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						ACGGCCTCACCTATACACTTC	0.602																																																	2	Substitution - Missense(2)	kidney(2)											78.0	73.0	75.0					16																	1827748		2198	4299	6497	SO:0001630	splice_region_variant	90864				CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"""chromosome 16 open reading frame 31"""	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.721+1G>C	16.37:g.1827748C>G		Somatic		WXS	Illumina HiSeq	Phase_I	D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Missense_Mutation	SNP	ENST00000566339.1	37	CCDS32365.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574505	0.65878	.	.	ENSG00000162032	ENST00000301717;ENST00000360717	T	0.66815	-0.23	3.79	3.79	0.43588	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.85405	0.5689	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89585	0.3823	9	.	.	.	-23.6723	14.23	0.65885	0.0:1.0:0.0:0.0	.	241	Q6PJ21	SPSB3_HUMAN	R	241;45	ENSP00000301717:G241R	.	G	-	1	0	SPSB3	1767749	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.296000	0.78790	1.664000	0.50801	0.561000	0.74099	GGT		0.602	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1		NM_080861	Missense_Mutation
SPTAN1	6709	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131331096	131331096	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr9:131331096A>T	ENST00000372731.4	+	3	393	c.283A>T	c.(283-285)Aac>Tac	p.N95Y	SPTAN1_ENST00000372739.3_Missense_Mutation_p.N95Y|SPTAN1_ENST00000358161.5_Missense_Mutation_p.N95Y	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	95					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.N95Y(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGTGCAGGCCAACTCAGGAGC	0.483																																					NSCLC(120;833 1744 2558 35612 37579)												1	Substitution - Missense(1)	kidney(1)											113.0	96.0	102.0					9																	131331096		2203	4300	6503	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.283A>T	9.37:g.131331096A>T	ENSP00000361816:p.Asn95Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.707072	0.89018	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.33438	1.41;1.41;1.41	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.56978	0.2022	M	0.75447	2.3	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.994;0.995;0.999	D;D;P;D;D	0.87578	0.968;0.998;0.811;0.932;0.973	T	0.59568	-0.7430	10	0.62326	D	0.03	.	15.7569	0.78037	1.0:0.0:0.0:0.0	.	95;95;95;95;95	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	Y	95	ENSP00000350882:N95Y;ENSP00000361816:N95Y;ENSP00000361824:N95Y	ENSP00000350882:N95Y	N	+	1	0	SPTAN1	130370917	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.910000	0.92685	2.371000	0.80710	0.533000	0.62120	AAC		0.483	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127	
SRCIN1	80725	broad.mit.edu	37	17	36717995	36717996	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr17:36717995_36717996insA	ENST00000264659.7	-	7	1627_1628	c.1403_1404insT	c.(1402-1404)ttcfs	p.F468fs	SRCIN1_ENST00000578925.1_Frame_Shift_Ins_p.F502fs|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	340					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GCGGCAGGCGGAAGCCGTAGCC	0.752																																																	0																																										SO:0001589	frameshift_variant	80725				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.1404dupT	17.37:g.36717997_36717997dupA	ENSP00000264659:p.Phe468fs	Somatic		WXS	Illumina GAIIx	Phase_I	Q75T46|Q8N4W8	Frame_Shift_Ins	INS	ENST00000264659.7	37	CCDS45660.1																																																																																				0.752	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4		NM_025248	
ST6GALNAC1	55808	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	74625522	74625522	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr17:74625522T>C	ENST00000156626.7	-	2	602	c.403A>G	c.(403-405)Aac>Gac	p.N135D	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	135					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.N135D(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GACAGTGTGTTCACCATGGTT	0.572																																																	1	Substitution - Missense(1)	kidney(1)											173.0	160.0	164.0					17																	74625522		2203	4300	6503	SO:0001583	missense	55808			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.403A>G	17.37:g.74625522T>C	ENSP00000156626:p.Asn135Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	T	0.055	-1.239346	0.01493	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	T;T	0.20881	2.04;2.05	3.94	0.643	0.17770	.	2.111040	0.01547	N	0.019532	T	0.08044	0.0201	N	0.03608	-0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.27706	-1.0066	10	0.02654	T	1	-5.3386	3.8101	0.08793	0.0:0.4489:0.1883:0.3628	.	135	Q9NSC7	SIA7A_HUMAN	D	135	ENSP00000156626:N135D;ENSP00000351991:N135D	ENSP00000156626:N135D	N	-	1	0	ST6GALNAC1	72137117	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.531000	0.06171	0.046000	0.15833	0.260000	0.18958	AAC		0.572	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1		NM_018414	
SYNGR1	9145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	39777742	39777742	+	Silent	SNP	C	C	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr22:39777742C>G	ENST00000328933.5	+	4	540	c.525C>G	c.(523-525)ggC>ggG	p.G175G		NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1	175					protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)		p.G175G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					ACCAGATTGGCGCCGACTCGG	0.687																																																	1	Substitution - coding silent(1)	kidney(1)											42.0	45.0	44.0					22																	39777742		2203	4300	6503	SO:0001819	synonymous_variant	9145			AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.525C>G	22.37:g.39777742C>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Silent	SNP	ENST00000328933.5	37	CCDS13989.1																																																																																				0.687	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075866.2		NM_004711	
SYNJ1	8867	broad.mit.edu;hgsc.bcm.edu	37	21	34053921	34053921	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr21:34053921T>G	ENST00000322229.7	-	10	1237	c.1238A>C	c.(1237-1239)gAa>gCa	p.E413A	SYNJ1_ENST00000382491.3_Missense_Mutation_p.E413A|SYNJ1_ENST00000357345.3_Missense_Mutation_p.E413A|SYNJ1_ENST00000433931.2_Missense_Mutation_p.E452A|SYNJ1_ENST00000382499.2_Missense_Mutation_p.E452A			O43426	SYNJ1_HUMAN	synaptojanin 1	413	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.E413A(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTGAGGCTTTTCAGCTAAACC	0.348																																																	1	Substitution - Missense(1)	kidney(1)											83.0	81.0	82.0					21																	34053921		2203	4300	6503	SO:0001583	missense	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1238A>C	21.37:g.34053921T>G	ENSP00000322234:p.Glu413Ala	Somatic		WXS	Illumina HiSeq	Phase_I	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.348034	0.82132	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89	5.83	5.83	0.93111	Synaptojanin, N-terminal (1);	0.156649	0.56097	N	0.000022	T	0.35856	0.0946	L	0.45051	1.395	0.80722	D	1	P;P;P;P;D	0.61697	0.608;0.613;0.858;0.602;0.99	B;B;P;B;P	0.54060	0.297;0.269;0.596;0.358;0.741	T	0.02484	-1.1152	10	0.35671	T	0.21	.	16.1999	0.82063	0.0:0.0:0.0:1.0	.	413;452;413;413;413	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	A	413;413;452;452;413;413	ENSP00000371931:E413A;ENSP00000349903:E413A;ENSP00000371939:E452A;ENSP00000409667:E452A;ENSP00000322234:E413A;ENSP00000413649:E413A	ENSP00000322234:E413A	E	-	2	0	SYNJ1	32975792	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.997000	0.88414	2.224000	0.72417	0.477000	0.44152	GAA		0.348	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				
TDRD6	221400	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	46660119	46660119	+	Silent	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr6:46660119C>T	ENST00000316081.6	+	1	4254	c.4254C>T	c.(4252-4254)tgC>tgT	p.C1418C	TDRD6_ENST00000544460.1_Silent_p.C1418C	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1418					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.C1418C(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCATTCATTGCTCCTTGCAGG	0.393																																																	1	Substitution - coding silent(1)	kidney(1)											179.0	185.0	183.0					6																	46660119		2203	4299	6502	SO:0001819	synonymous_variant	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4254C>T	6.37:g.46660119C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	CCDS34470.1																																																																																				0.393	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1		XM_166443	
THAP2	83591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	72068028	72068028	+	Silent	SNP	T	T	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr12:72068028T>G	ENST00000308086.2	+	2	1618	c.117T>G	c.(115-117)gtT>gtG	p.V39V	RP11-293I14.2_ENST00000548802.1_Silent_p.V15V	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	39						nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V39V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						TTCGCCTGGTTAGGCGCAAAA	0.378																																																	1	Substitution - coding silent(1)	kidney(1)											91.0	90.0	90.0					12																	72068028		2203	4300	6503	SO:0001819	synonymous_variant	83591			BC008358	CCDS9001.1	12q21.1	2013-01-25				ENSG00000173451		"""THAP (C2CH-type zinc finger) domain containing"""	20854	protein-coding gene	gene with protein product		612531				12575992	Standard	NM_031435		Approved	DKFZP564I0422	uc001swq.3	Q9H0W7	OTTHUMG00000169556	ENST00000308086.2:c.117T>G	12.37:g.72068028T>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2R8P3	Silent	SNP	ENST00000308086.2	37	CCDS9001.1																																																																																				0.378	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404796.1		NM_031435	
TMTC3	160418	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	88588684	88588684	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr12:88588684C>G	ENST00000266712.6	+	14	2223	c.2003C>G	c.(2002-2004)gCt>gGt	p.A668G		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	669					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)		p.A668G(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CCACTAGATGCTAATGGGTAT	0.348																																																	1	Substitution - Missense(1)	kidney(1)											86.0	90.0	89.0					12																	88588684		2202	4300	6502	SO:0001583	missense	160418				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.2003C>G	12.37:g.88588684C>G	ENSP00000266712:p.Ala668Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816579	0.50633	.	.	ENSG00000139324	ENST00000266712	T	0.78364	-1.17	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.79240	0.4412	M	0.66939	2.045	0.58432	D	0.999998	B	0.26672	0.156	B	0.30572	0.117	T	0.74109	-0.3771	10	0.33940	T	0.23	-16.501	20.1133	0.97917	0.0:1.0:0.0:0.0	.	668	Q6ZXV5-2	.	G	668	ENSP00000266712:A668G	ENSP00000266712:A668G	A	+	2	0	TMTC3	87112815	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.860000	0.69546	2.762000	0.94881	0.591000	0.81541	GCT		0.348	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1		NM_181783	
TMX2	51075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	57505890	57505890	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr11:57505890delT	ENST00000278422.4	+	4	441	c.429delT	c.(427-429)gatfs	p.D143fs	TMX2_ENST00000378312.4_Frame_Shift_Del_p.D105fs|TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000534355.1_5'Flank	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	143	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						ACTTCAATGATAAAACCATTG	0.423																																																	0													242.0	224.0	230.0					11																	57505890		2201	4296	6497	SO:0001589	frameshift_variant	51075			AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.429delT	11.37:g.57505890delT	ENSP00000278422:p.Asp143fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Frame_Shift_Del	DEL	ENST00000278422.4	37	CCDS7967.1																																																																																				0.423	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1		NM_015959	
TNRC18	84629	broad.mit.edu;ucsc.edu	37	7	5391571	5391571	+	Silent	SNP	C	C	T	rs186010377	byFrequency	TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr7:5391571C>T	ENST00000430969.1	-	17	5697	c.5349G>A	c.(5347-5349)gcG>gcA	p.A1783A	TNRC18_ENST00000399537.4_Silent_p.A1783A	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1783							chromatin binding (GO:0003682)	p.A1783A(2)|p.A838A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCCGGGGGGCCGCCAGGCCCC	0.637													C|||	3	0.000599042	0.0	0.0	5008	,	,		13223	0.003		0.0	False		,,,				2504	0.0																3	Substitution - coding silent(3)	kidney(3)											18.0	19.0	19.0					7																	5391571		1567	3581	5148	SO:0001819	synonymous_variant	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.5349G>A	7.37:g.5391571C>T		Somatic		WXS	Illumina GAIIx	Phase_I	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1																																																																																				0.637	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				
SMG1P7	100506060	broad.mit.edu	37	16	70268080	70268080	+	RNA	SNP	T	T	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr16:70268080T>C	ENST00000459379.1	-	0	0																											GTCTTACTGTTGGCTAAAAGG	0.373																																																	0																																												0																															16.37:g.70268080T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000459379.1	37																																																																																					0.373	snoU13.216-201	NOVEL	basic	snoRNA	snoRNA				
USH2A	7399	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	215990344	215990344	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:215990344C>T	ENST00000307340.3	-	48	9951	c.9565G>A	c.(9565-9567)Gct>Act	p.A3189T	USH2A_ENST00000366943.2_Missense_Mutation_p.A3189T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3189	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.A3189T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTACCTTAGCTTCAGAAGAA	0.383										HNSCC(13;0.011)																																							1	Substitution - Missense(1)	kidney(1)											126.0	114.0	118.0					1																	215990344		2203	4299	6502	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9565G>A	1.37:g.215990344C>T	ENSP00000305941:p.Ala3189Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	4.489	0.090616	0.08632	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.12255	2.71;2.7	5.55	-1.98	0.07480	Fibronectin, type III (2);	0.965202	0.08478	N	0.939922	T	0.06188	0.0160	N	0.13327	0.33	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.45026	-0.9289	10	0.12103	T	0.63	.	5.7747	0.18273	0.3361:0.1625:0.0:0.5014	.	3189	O75445	USH2A_HUMAN	T	3189	ENSP00000305941:A3189T;ENSP00000355910:A3189T	ENSP00000305941:A3189T	A	-	1	0	USH2A	214056967	0.000000	0.05858	0.781000	0.31783	0.328000	0.28507	-0.320000	0.08028	-0.008000	0.14320	0.556000	0.70494	GCT		0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123	
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191540	10191541	+	Frame_Shift_Ins	INS	-	-	G	rs5030822		TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr3:10191540_10191541insG	ENST00000256474.2	+	3	1373_1374	c.533_534insG	c.(532-537)ctggacfs	p.D179fs	VHL_ENST00000345392.2_Frame_Shift_Ins_p.D138fs|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	179					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L178R(1)|p.R177fs*37(1)|p.L178_V181del(1)|p.?fs(1)|p.Y175_L178>*(1)|p.L178fs*36(1)|p.D179fs*36(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TACAGGAGACTGGACATCGTCA	0.53		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	7	Insertion - Frameshift(2)|Deletion - In frame(1)|Deletion - Frameshift(1)|Complex - frameshift(1)|Complex - deletion inframe(1)|Substitution - Missense(1)	kidney(7)	GRCh37	CI984223|CM003061|CM941386|CM961439	VHL	I|M	rs5030822																																			SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.535dupG	3.37:g.10191542_10191542dupG	ENSP00000256474:p.Asp179fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.530	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VLDLR	7436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	2652826	2652826	+	Missense_Mutation	SNP	T	T	A	rs140801553		TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr9:2652826T>A	ENST00000382100.3	+	18	2819	c.2463T>A	c.(2461-2463)aaT>aaA	p.N821K	VLDLR_ENST00000382099.2_Missense_Mutation_p.N793K	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	821					cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.N821K(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TGTGGCGGAATTGGCAACACA	0.428																																																	1	Substitution - Missense(1)	kidney(1)											178.0	151.0	160.0					9																	2652826		2203	4300	6503	SO:0001583	missense	7436				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.2463T>A	9.37:g.2652826T>A	ENSP00000371532:p.Asn821Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.569621	0.86439	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	T;T	0.72167	-0.63;-0.63	5.58	-8.41	0.00961	.	0.000000	0.56097	D	0.000026	T	0.77110	0.4082	L	0.46670	1.46	0.49798	D	0.999828	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	T	0.80077	-0.1533	10	0.56958	D	0.05	.	23.2641	0.99981	0.0:0.7813:0.0:0.2187	.	793;793;821	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	K	821;793;700	ENSP00000371532:N821K;ENSP00000371531:N793K	ENSP00000371524:N700K	N	+	3	2	VLDLR	2642826	0.328000	0.24687	0.725000	0.30721	0.998000	0.95712	-0.254000	0.08781	-1.644000	0.01517	0.482000	0.46254	AAT		0.428	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2		NM_003383	
ZC3H18	124245	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	88694152	88694152	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr16:88694152C>T	ENST00000301011.5	+	14	2431	c.2231C>T	c.(2230-2232)tCt>tTt	p.S744F	ZC3H18_ENST00000452588.2_Missense_Mutation_p.S768F	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	744	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S744F(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TCAGCCAGCTCTCGGTCCCCG	0.652																																					Ovarian(121;375 2276 20373 38669)												1	Substitution - Missense(1)	kidney(1)											52.0	40.0	44.0					16																	88694152		2198	4300	6498	SO:0001583	missense	124245			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2231C>T	16.37:g.88694152C>T	ENSP00000301011:p.Ser744Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578301	0.86645	.	.	ENSG00000158545	ENST00000301011;ENST00000452588	T;T	0.52057	0.68;1.01	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.65502	0.2697	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.68800	-0.5313	10	0.66056	D	0.02	-11.2625	17.9725	0.89117	0.0:1.0:0.0:0.0	.	768;744	E7ERS3;Q86VM9	.;ZCH18_HUMAN	F	744;768	ENSP00000301011:S744F;ENSP00000416951:S768F	ENSP00000301011:S744F	S	+	2	0	ZC3H18	87221653	1.000000	0.71417	0.955000	0.39395	0.849000	0.48306	5.769000	0.68865	2.322000	0.78497	0.491000	0.48974	TCT		0.652	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1		NM_144604	
ZMYND10	51364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	50380356	50380356	+	Silent	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr3:50380356C>T	ENST00000231749.3	-	7	1965	c.693G>A	c.(691-693)cgG>cgA	p.R231R	ZMYND10_ENST00000490675.1_5'Flank|RASSF1_ENST00000357043.2_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000360165.3_Intron|RASSF1_ENST00000359365.4_5'Flank|RASSF1_ENST00000488024.1_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	231					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)	p.R231R(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TACCTCCTTCCCGCCGGCTCC	0.597										TSP Lung(30;0.18)																																							1	Substitution - coding silent(1)	kidney(1)											80.0	78.0	79.0					3																	50380356		2203	4300	6503	SO:0001819	synonymous_variant	51364			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.693G>A	3.37:g.50380356C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Silent	SNP	ENST00000231749.3	37	CCDS2825.1																																																																																				0.597	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1		NM_015896	
ZNF276	92822	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	89804478	89804478	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr16:89804478G>C	ENST00000443381.2	+	11	1766	c.1669G>C	c.(1669-1671)Gac>Cac	p.D557H	ZNF276_ENST00000446326.2_Missense_Mutation_p.D343H|ZNF276_ENST00000568064.1_3'UTR|ZNF276_ENST00000289816.5_Missense_Mutation_p.D482H|FANCA_ENST00000389301.3_3'UTR	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	557					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.D557H(1)|p.D482H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTTTGCCTGTGACCAGTGTGG	0.597																																																	2	Substitution - Missense(2)	kidney(2)											74.0	58.0	63.0					16																	89804478		2198	4300	6498	SO:0001583	missense	92822			AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1669G>C	16.37:g.89804478G>C	ENSP00000415836:p.Asp557His	Somatic		WXS	Illumina HiSeq	Phase_I	Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.853366	0.71719	.	.	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	T;T;T	0.48522	0.81;0.81;0.81	5.75	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.156624	0.56097	D	0.000024	T	0.59059	0.2166	L	0.39514	1.22	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.999	D;D;D	0.71870	0.957;0.975;0.975	T	0.62450	-0.6852	10	0.72032	D	0.01	-39.5728	14.0591	0.64788	0.0723:0.0:0.9277:0.0	.	395;557;343	B4DIT3;Q8N554;A8K186	.;ZN276_HUMAN;.	H	343;482;557	ENSP00000415999:D343H;ENSP00000289816:D482H;ENSP00000415836:D557H	ENSP00000289816:D482H	D	+	1	0	ZNF276	88331979	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.160000	0.64929	1.432000	0.47375	0.561000	0.74099	GAC		0.597	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1		NM_152287	
ZNF397	84307	hgsc.bcm.edu	37	18	32822821	32822821	+	Silent	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr18:32822821G>A	ENST00000330501.7	+	2	540	c.387G>A	c.(385-387)gaG>gaA	p.E129E	ZNF397_ENST00000591206.1_Silent_p.E129E|ZNF397_ENST00000355632.4_Silent_p.E129E|ZNF397_ENST00000585800.1_Silent_p.E129E|ZNF397_ENST00000261333.6_Silent_p.E129E|ZNF397_ENST00000592264.1_Silent_p.E129E|ZNF397_ENST00000589420.1_Intron	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	129	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						AGGATTTAGAGAGGGAGTTTG	0.502																																																	0													55.0	59.0	58.0					18																	32822821		2203	4300	6503	SO:0001819	synonymous_variant	84307			BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"""-"", ""Zinc fingers, C2H2-type"""	18818	protein-coding gene	gene with protein product		609601	"""zinc finger protein 47"""	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.387G>A	18.37:g.32822821G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9BRM2	Silent	SNP	ENST00000330501.7	37	CCDS45852.1																																																																																				0.502	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442398.1		NM_032347	
ZNF546	339327	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	40520538	40520538	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr19:40520538C>T	ENST00000347077.4	+	7	1577	c.1361C>T	c.(1360-1362)aCg>aTg	p.T454M	ZNF546_ENST00000600094.1_Missense_Mutation_p.T428M|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	454					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T454M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CGTCTTCAAACGGAACTTACT	0.393																																																	1	Substitution - Missense(1)	kidney(1)											68.0	71.0	70.0					19																	40520538		2203	4300	6503	SO:0001583	missense	339327			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1361C>T	19.37:g.40520538C>T	ENSP00000339823:p.Thr454Met	Somatic		WXS	Illumina HiSeq	Phase_I	A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	c	12.66	2.005962	0.35415	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.07800	3.16	2.67	2.67	0.31697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11367	0.0277	L	0.52011	1.625	0.09310	N	1	D	0.67145	0.996	P	0.48030	0.564	T	0.15350	-1.0440	9	0.59425	D	0.04	.	7.6611	0.28404	0.0:0.736:0.264:0.0	.	454	Q86UE3	ZN546_HUMAN	M	454;91	ENSP00000339823:T454M	ENSP00000339823:T454M	T	+	2	0	ZNF546	45212378	0.000000	0.05858	0.165000	0.22776	0.963000	0.63663	-0.306000	0.08178	1.804000	0.52760	0.655000	0.94253	ACG		0.393	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2		NM_178544	
