#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
ATG16L1	55054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	234178666	234178666	+	Silent	SNP	G	G	T			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr2:234178666G>T	ENST00000392017.4	+	6	917	c.660G>T	c.(658-660)ctG>ctT	p.L220L	ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000347464.5_Silent_p.L76L|ATG16L1_ENST00000392018.1_Silent_p.L220L|ATG16L1_ENST00000392020.4_Silent_p.L220L|ATG16L1_ENST00000373525.5_Silent_p.L76L	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	220	WIPI2-binding. {ECO:0000269|PubMed:24954904}.				autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)	p.L220L(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		AAGCCCGGCTGCAGAAAGAGC	0.443																																																	2	Substitution - coding silent(2)	lung(1)|kidney(1)											73.0	87.0	82.0					2																	234178666		2203	4300	6503	SO:0001819	synonymous_variant	55054			AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.660G>T	2.37:g.234178666G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Silent	SNP	ENST00000392017.4	37	CCDS2503.2																																																																																				0.443	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2		NM_017974	
ATMIN	23300	hgsc.bcm.edu	37	16	81069751	81069751	+	Silent	SNP	C	C	G	rs150799758	byFrequency	TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr16:81069751C>G	ENST00000299575.4	+	1	300	c.276C>G	c.(274-276)ggC>ggG	p.G92G	ATMIN_ENST00000564241.1_5'Flank|RP11-303E16.3_ENST00000561808.1_RNA|RP11-303E16.3_ENST00000566390.1_RNA	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	92					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GCGGCTGCGGCAAGATCCTGC	0.746																																																	0								C		0,3984		0,0,1992	12.0	12.0	12.0		276	3.1	1.0	16	dbSNP_134	12	11,7985		0,11,3987	no	coding-synonymous	ATMIN	NM_015251.2		0,11,5979	GG,GC,CC		0.1376,0.0,0.0918		92/824	81069751	11,11969	1992	3998	5990	SO:0001819	synonymous_variant	23300			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.276C>G	16.37:g.81069751C>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K4H8|Q68DC9	Silent	SNP	ENST00000299575.4	37	CCDS32494.1																																																																																				0.746	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1		NM_015251	
C11orf30	56946	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	76261122	76261122	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr11:76261122G>A	ENST00000529032.1	+	20	3901	c.3901G>A	c.(3901-3903)Gac>Aac	p.D1301N	C11orf30_ENST00000533248.1_Missense_Mutation_p.D1210N|C11orf30_ENST00000525038.1_Missense_Mutation_p.D1302N|C11orf30_ENST00000524490.1_Missense_Mutation_p.D1203N|C11orf30_ENST00000343878.3_Missense_Mutation_p.D1134N|C11orf30_ENST00000334736.3_Missense_Mutation_p.D1301N|C11orf30_ENST00000524767.1_Missense_Mutation_p.D1316N|C11orf30_ENST00000525919.1_Missense_Mutation_p.D1302N			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1301					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.D1301N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AATGGAGCAGGACATAGACAG	0.507																																																	1	Substitution - Missense(1)	kidney(1)											109.0	103.0	105.0					11																	76261122		2200	4292	6492	SO:0001583	missense	56946			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3901G>A	11.37:g.76261122G>A	ENSP00000432327:p.Asp1301Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391175	0.82902	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032;ENST00000532719	.	.	.	5.18	5.18	0.71444	.	0.048857	0.85682	D	0.000000	T	0.63896	0.2550	N	0.19112	0.55	0.38015	D	0.934673	D;P;P;D;P;D	0.61697	0.99;0.948;0.948;0.958;0.9;0.958	D;P;P;B;B;B	0.67900	0.954;0.533;0.533;0.395;0.307;0.395	T	0.70037	-0.4982	9	0.59425	D	0.04	-5.1911	18.8829	0.92364	0.0:0.0:1.0:0.0	.	1210;1302;1316;1302;1203;1301	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	N	1203;1301;1134;983;1316;1210;1302;1302;1301;274	.	ENSP00000334130:D1301N	D	+	1	0	C11orf30	75938770	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.996000	0.93539	2.705000	0.92388	0.650000	0.86243	GAC		0.507	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2		NM_020193	
GID8	54994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	61574871	61574871	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr20:61574871C>T	ENST00000266069.3	+	4	487	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C		NM_017896.2	NP_060366.1	Q9NWU2	GID8_HUMAN	GID complex subunit 8	114	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.					cell junction (GO:0030054)|nucleus (GO:0005634)		p.R114C(1)									CGAGCTGATCCGCCAGCGGGA	0.622																																																	1	Substitution - Missense(1)	kidney(1)											33.0	33.0	33.0					20																	61574871		2201	4299	6500	SO:0001583	missense	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.340C>T	20.37:g.61574871C>T	ENSP00000266069:p.Arg114Cys	Somatic		WXS	Illumina HiSeq	Phase_I	E1P5I3|Q8N5M5	Missense_Mutation	SNP	ENST00000266069.3	37	CCDS13510.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771325	0.90108	.	.	ENSG00000101193	ENST00000266069	.	.	.	5.36	3.23	0.37069	CTLH, C-terminal LisH motif (2);	0.044648	0.85682	D	0.000000	T	0.73156	0.3551	M	0.76838	2.35	0.80722	D	1	D	0.56746	0.977	P	0.55011	0.766	T	0.78851	-0.2041	9	0.72032	D	0.01	-14.1046	13.9913	0.64369	0.2753:0.7247:0.0:0.0	.	114	Q9NWU2	CT011_HUMAN	C	114	.	ENSP00000266069:R114C	R	+	1	0	C20orf11	61045316	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.549000	0.60726	1.352000	0.45808	0.561000	0.74099	CGC		0.622	GID8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080097.2		NM_017896	
CEP170	9859	hgsc.bcm.edu	37	1	243328392	243328393	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr1:243328392_243328393delTT	ENST00000366542.1	-	13	2920_2921	c.2869_2870delAA	c.(2869-2871)aagfs	p.K957fs	CEP170_ENST00000490813.1_5'Flank|CEP170_ENST00000366544.1_Frame_Shift_Del_p.K859fs|RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366543.1_Frame_Shift_Del_p.K859fs	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	957	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			AGTGAAACTCTTTCGCTTTTGG	0.376																																																	0																																										SO:0001589	frameshift_variant	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.2869_2870delAA	1.37:g.243328392_243328393delTT	ENSP00000355500:p.Lys957fs	Somatic		WXS	Illumina HiSeq	Phase_I	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Frame_Shift_Del	DEL	ENST00000366542.1	37	CCDS44339.1																																																																																				0.376	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2		NM_014812	
CHAD	1101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48543170	48543170	+	Missense_Mutation	SNP	C	C	T	rs142146358		TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr17:48543170C>T	ENST00000508540.1	-	2	988	c.836G>A	c.(835-837)cGc>cAc	p.R279H	ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.R279H	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	279					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)		p.R279H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CTGGTTCAAGCGGTTGTTCTC	0.587																																																	1	Substitution - Missense(1)	kidney(1)						C	HIS/ARG,	1,4405	2.1+/-5.4	0,1,2202	209.0	177.0	187.0		836,	5.0	1.0	17	dbSNP_134	187	2,8598	2.2+/-6.3	0,2,4298	yes	missense,intron	CHAD,ACSF2	NM_001267.2,NM_025149.4	29,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging,	279/360,	48543170	3,13003	2203	4300	6503	SO:0001583	missense	1101			U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1909	protein-coding gene	gene with protein product	"""chondroadherin proteoglycan"""	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.836G>A	17.37:g.48543170C>T	ENSP00000423812:p.Arg279His	Somatic		WXS	Illumina HiSeq	Phase_I	A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	SNP	ENST00000508540.1	37	CCDS11568.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307290	0.60305	2.27E-4	2.33E-4	ENSG00000136457	ENST00000508540;ENST00000258969	T;T	0.04706	3.57;3.57	4.97	4.97	0.65823	.	0.068094	0.64402	D	0.000009	T	0.09686	0.0238	L	0.43923	1.385	0.40179	D	0.97727	D	0.60575	0.988	P	0.55667	0.781	T	0.02358	-1.1171	10	0.48119	T	0.1	.	9.1725	0.37091	0.0:0.8407:0.0:0.1593	.	279	O15335	CHAD_HUMAN	H	279	ENSP00000423812:R279H;ENSP00000258969:R279H	ENSP00000258969:R279H	R	-	2	0	CHAD	45898169	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	1.403000	0.34612	2.578000	0.87016	0.655000	0.94253	CGC		0.587	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3		NM_001267	
CHD4	1108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6701634	6701634	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr12:6701634A>T	ENST00000357008.2	-	19	3036	c.2873T>A	c.(2872-2874)cTc>cAc	p.L958H	CHD4_ENST00000309577.6_Missense_Mutation_p.L958H|CHD4_ENST00000544040.1_Missense_Mutation_p.L951H|CHD4_ENST00000544484.1_Missense_Mutation_p.L955H	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	958					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.L958H(2)		central_nervous_system(2)	2						ATCGGCTTTGAGCCGCCGCAA	0.502																																					Colon(32;586 792 4568 16848 45314)												2	Substitution - Missense(2)	kidney(2)											83.0	83.0	83.0					12																	6701634		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2873T>A	12.37:g.6701634A>T	ENSP00000349508:p.Leu958His	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	A	19.92	3.916518	0.73098	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	5.4	5.4	0.78164	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97315	0.9122	M	0.92026	3.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.98278	1.0507	10	0.87932	D	0	.	15.4307	0.75092	1.0:0.0:0.0:0.0	.	958;958;951	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	H	955;951;958;958;932	ENSP00000440392:L955H;ENSP00000440542:L951H;ENSP00000312419:L958H;ENSP00000349508:L958H	ENSP00000312419:L958H	L	-	2	0	CHD4	6571895	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	9.307000	0.96226	2.047000	0.60756	0.460000	0.39030	CTC		0.502	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001273	
DDX50	79009	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	70695795	70695795	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr10:70695795A>G	ENST00000373585.3	+	11	1662	c.1555A>G	c.(1555-1557)Aca>Gca	p.T519A	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	519	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.T519A(1)		breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TGTTCCTTCTACAATGGATTT	0.294																																																	1	Substitution - Missense(1)	kidney(1)											69.0	65.0	67.0					10																	70695795		2202	4299	6501	SO:0001583	missense	79009			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1555A>G	10.37:g.70695795A>G	ENSP00000362687:p.Thr519Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	A	3.443	-0.113651	0.06881	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.17528	2.27	5.46	4.25	0.50352	Helicase, C-terminal (1);	0.253274	0.47852	D	0.000212	T	0.03827	0.0108	N	0.01015	-1.05	0.30204	N	0.798349	B	0.09022	0.002	B	0.06405	0.002	T	0.34925	-0.9809	10	0.07813	T	0.8	-12.7394	3.8747	0.09051	0.5936:0.0:0.0919:0.3145	.	519	Q9BQ39	DDX50_HUMAN	A	519	ENSP00000362687:T519A	ENSP00000362687:T519A	T	+	1	0	DDX50	70365801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.873000	0.56093	2.200000	0.70718	0.482000	0.46254	ACA		0.294	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1		NM_024045	
DNAH11	8701	broad.mit.edu;hgsc.bcm.edu	37	7	21639512	21639512	+	Silent	SNP	C	C	T			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr7:21639512C>T	ENST00000409508.3	+	15	2806	c.2775C>T	c.(2773-2775)caC>caT	p.H925H	DNAH11_ENST00000328843.6_Silent_p.H925H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	925	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.H925H(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTATAATGCACGACTTAGACT	0.398									Kartagener syndrome																																								1	Substitution - coding silent(1)	kidney(1)											88.0	82.0	84.0					7																	21639512		1847	4089	5936	SO:0001819	synonymous_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2775C>T	7.37:g.21639512C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9UJ82	Silent	SNP	ENST00000409508.3	37																																																																																					0.398	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777	
EIF4G3	8672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	21133885	21133885	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr1:21133885C>T	ENST00000264211.8	-	31	4879	c.4685G>A	c.(4684-4686)gGc>gAc	p.G1562D	EIF4G3_ENST00000602326.1_Missense_Mutation_p.G1568D|EIF4G3_ENST00000374937.3_Missense_Mutation_p.G1568D|EIF4G3_ENST00000374935.3_Missense_Mutation_p.G1282D|EIF4G3_ENST00000536266.1_Missense_Mutation_p.G1166D|EIF4G3_ENST00000537738.1_Missense_Mutation_p.G1052D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.G1562D	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1562	EIF4A-binding. {ECO:0000250}.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.G1562D(1)|p.G1568D(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAGAGCCACGCCCTTCCCATT	0.473																																																	2	Substitution - Missense(2)	kidney(2)											192.0	192.0	192.0					1																	21133885		2203	4300	6503	SO:0001583	missense	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.4685G>A	1.37:g.21133885C>T	ENSP00000264211:p.Gly1562Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824570	0.90955	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.6	5.6	0.85130	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.89213	0.6651	L	0.46614	1.455	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.996;0.99;1.0;0.994	D	0.89729	0.3925	10	0.87932	D	0	-12.9911	19.6136	0.95619	0.0:1.0:0.0:0.0	.	1757;1282;1166;1568;1562	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	D	1562;1758;1562;1282;1052;1568;1166	ENSP00000264211:G1562D;ENSP00000383274:G1562D;ENSP00000364071:G1282D;ENSP00000442010:G1052D;ENSP00000364073:G1568D;ENSP00000444693:G1166D	ENSP00000264211:G1562D	G	-	2	0	EIF4G3	21006472	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.792000	0.85828	2.641000	0.89580	0.585000	0.79938	GGC		0.473	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3		NM_003760	
FCRL5	83416	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	157494128	157494128	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr1:157494128C>T	ENST00000361835.3	-	10	2337	c.2180G>A	c.(2179-2181)tGt>tAt	p.C727Y	FCRL5_ENST00000368190.3_Missense_Mutation_p.C727Y|FCRL5_ENST00000356953.4_Missense_Mutation_p.C727Y|FCRL5_ENST00000368191.3_Missense_Mutation_p.C642Y|FCRL5_ENST00000461387.1_5'Flank	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	727	Ig-like C2-type 7.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.C727Y(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GTCTGCCTCACAGGAGTAGAT	0.547																																																	1	Substitution - Missense(1)	kidney(1)											61.0	66.0	65.0					1																	157494128		2203	4300	6503	SO:0001583	missense	83416			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2180G>A	1.37:g.157494128C>T	ENSP00000354691:p.Cys727Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.014076	0.54468	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	4.83	4.83	0.62350	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80259	0.4590	H	0.98542	4.26	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;1.0;0.999;0.999	D	0.86630	0.1885	9	0.87932	D	0	.	13.5998	0.62013	0.0:1.0:0.0:0.0	.	642;727;727;727	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9	.;.;.;FCRL5_HUMAN	Y	727;727;727;642	ENSP00000354691:C727Y;ENSP00000349434:C727Y;ENSP00000357173:C727Y;ENSP00000357174:C642Y	ENSP00000349434:C727Y	C	-	2	0	FCRL5	155760752	0.977000	0.34250	0.825000	0.32803	0.498000	0.33706	3.482000	0.53186	2.664000	0.90586	0.650000	0.86243	TGT		0.547	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1		NM_031281	
FLRT2	23768	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	86088842	86088842	+	Silent	SNP	C	C	T			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr14:86088842C>T	ENST00000330753.4	+	2	1751	c.984C>T	c.(982-984)atC>atT	p.I328I	FLRT2_ENST00000554746.1_Silent_p.I328I	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	328	LRRCT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.I328I(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TCAAATATATCCCTTCATCTC	0.458																																																	1	Substitution - coding silent(1)	kidney(1)											149.0	158.0	155.0					14																	86088842		2203	4300	6503	SO:0001819	synonymous_variant	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.984C>T	14.37:g.86088842C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	CCDS9877.1																																																																																				0.458	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			
GAS2L3	283431	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	101017385	101017385	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr12:101017385G>A	ENST00000539410.1	+	9	1188	c.802G>A	c.(802-804)Gat>Aat	p.D268N	GAS2L3_ENST00000537247.1_Missense_Mutation_p.D164N|GAS2L3_ENST00000547754.1_Missense_Mutation_p.D268N|GAS2L3_ENST00000266754.5_Missense_Mutation_p.D268N			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	268	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)	p.D268N(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGGAGGCTGGGATACTCTTCA	0.368																																																	1	Substitution - Missense(1)	kidney(1)											152.0	153.0	152.0					12																	101017385		2203	4300	6503	SO:0001583	missense	283431			AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.802G>A	12.37:g.101017385G>A	ENSP00000439672:p.Asp268Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	G	35	5.483025	0.96307	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.30182	1.55;1.55;1.54;1.55	5.56	5.56	0.83823	Growth-arrest-specific protein 2 domain (4);	0.158234	0.53938	D	0.000042	T	0.53626	0.1808	L	0.52905	1.665	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.49418	-0.8942	10	0.51188	T	0.08	-22.1207	19.5451	0.95291	0.0:0.0:1.0:0.0	.	268	Q86XJ1	GA2L3_HUMAN	N	268;268;164;268	ENSP00000266754:D268N;ENSP00000448955:D268N;ENSP00000442406:D164N;ENSP00000439672:D268N	ENSP00000266754:D268N	D	+	1	0	GAS2L3	99541516	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.830000	0.99415	2.629000	0.89072	0.655000	0.94253	GAT		0.368	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1		NM_174942	
GCN1L1	10985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	120622633	120622633	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr12:120622633C>T	ENST00000300648.6	-	3	191	c.179G>A	c.(178-180)cGa>cAa	p.R60Q		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	60					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.R60Q(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCACCTATATCGATGCAGAGT	0.483																																																	1	Substitution - Missense(1)	kidney(1)											92.0	88.0	89.0					12																	120622633		1902	4134	6036	SO:0001583	missense	10985			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.179G>A	12.37:g.120622633C>T	ENSP00000300648:p.Arg60Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378011	0.82682	.	.	ENSG00000089154	ENST00000300648	T	0.00664	5.92	5.87	4.97	0.65823	.	0.129899	0.51477	N	0.000092	T	0.01835	0.0058	L	0.29908	0.895	0.52501	D	0.999958	D	0.76494	0.999	P	0.58970	0.849	T	0.78532	-0.2168	10	0.26408	T	0.33	-9.5365	16.9644	0.86281	0.0:0.8723:0.1277:0.0	.	60	Q92616	GCN1L_HUMAN	Q	60	ENSP00000300648:R60Q	ENSP00000300648:R60Q	R	-	2	0	GCN1L1	119107016	1.000000	0.71417	0.999000	0.59377	0.447000	0.32167	6.179000	0.71974	1.457000	0.47850	0.456000	0.33151	CGA		0.483	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			
GRIN3B	116444	broad.mit.edu	37	19	1003373	1003374	+	Frame_Shift_Ins	INS	-	-	G	rs368703396|rs34585248	byFrequency	TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr19:1003373_1003374insG	ENST00000234389.3	+	2	690_691	c.671_672insG	c.(670-675)gcgccafs	p.P225fs	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	225					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCGATGGCGGCGCCAGTGGGGG	0.743																																																	0																																										SO:0001589	frameshift_variant	116444				CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.672dupG	19.37:g.1003374_1003374dupG	ENSP00000234389:p.Pro225fs	Somatic		WXS	Illumina GAIIx	Phase_I	Q5EAK7|Q7RTW9	Frame_Shift_Ins	INS	ENST00000234389.3	37	CCDS32861.1																																																																																				0.743	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			
GUCY1B3	2983	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	156723600	156723600	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr4:156723600G>A	ENST00000264424.8	+	10	1364	c.1282G>A	c.(1282-1284)Gtg>Atg	p.V428M	GUCY1B3_ENST00000505764.1_Missense_Mutation_p.V408M|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.V395M|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.V360M|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.V450M|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.V403M|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.V360M	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	428	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.V428M(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TAGTGGCATTGTGGGCTTCAA	0.498																																																	1	Substitution - Missense(1)	kidney(1)											109.0	108.0	108.0					4																	156723600		2078	4210	6288	SO:0001583	missense	2983			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1282G>A	4.37:g.156723600G>A	ENSP00000264424:p.Val428Met	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024826	0.93518	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.9	5.9	0.94986	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.75125	0.3807	H	0.96916	3.905	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.996;0.999;0.995;0.988	T	0.82180	-0.0585	10	0.56958	D	0.05	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	408;450;403;395;428	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	M	360;450;408;403;428;395;360	ENSP00000427226:V360M;ENSP00000426786:V450M;ENSP00000426319:V408M;ENSP00000422313:V403M;ENSP00000264424:V428M;ENSP00000420842:V395M;ENSP00000425065:V360M	ENSP00000264424:V428M	V	+	1	0	GUCY1B3	156943050	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.869000	0.99810	2.788000	0.95919	0.650000	0.86243	GTG		0.498	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2			
IL1RL1	9173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	102956734	102956734	+	Splice_Site	SNP	T	T	G			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr2:102956734T>G	ENST00000233954.1	+	4	718		c.e4+2		IL1RL1_ENST00000409584.1_Splice_Site|IL1RL1_ENST00000393393.3_Splice_Site|IL1RL1_ENST00000404917.2_Splice_Site|IL1RL1_ENST00000311734.2_Splice_Site	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1						immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)	p.?(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TGGTTTAAGGTAAGAAGAAAT	0.383																																																	2	Unknown(2)	kidney(2)											51.0	52.0	52.0					2																	102956734		2203	4300	6503	SO:0001630	splice_region_variant	9173			D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.447+2T>G	2.37:g.102956734T>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Splice_Site	SNP	ENST00000233954.1	37	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	t	18.69	3.677549	0.68042	.	.	ENSG00000115602	ENST00000233954;ENST00000393393;ENST00000404917;ENST00000311734;ENST00000409584	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2036	0.59782	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL1RL1	102323166	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	4.061000	0.57485	2.100000	0.63781	0.460000	0.39030	.		0.383	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1		NM_016232	Intron
ITIH3	3699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52842629	52842629	+	Missense_Mutation	SNP	G	G	A	rs199755994	byFrequency	TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr3:52842629G>A	ENST00000449956.2	+	22	2611	c.2605G>A	c.(2605-2607)Gtc>Atc	p.V869I	ITIH3_ENST00000416872.2_Missense_Mutation_p.V677I	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	869					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V869I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTGCTGGTTCGTCCACAACAA	0.537													G|||	5	0.000998403	0.0	0.0014	5008	,	,		19429	0.0		0.0	False		,,,				2504	0.0041																2	Substitution - Missense(2)	lung(1)|kidney(1)						G	ILE/VAL	1,4115		0,1,2057	110.0	109.0	110.0		2605	4.8	1.0	3		110	0,8380		0,0,4190	no	missense	ITIH3	NM_002217.3	29	0,1,6247	AA,AG,GG		0.0,0.0243,0.0080	possibly-damaging	869/891	52842629	1,12495	2058	4190	6248	SO:0001583	missense	3699				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.2605G>A	3.37:g.52842629G>A	ENSP00000415769:p.Val869Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	CCDS46845.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.36	3.369890	0.61624	2.43E-4	0.0	ENSG00000162267	ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.15603	2.41;2.41	5.65	4.77	0.60923	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.189856	0.46145	N	0.000311	T	0.33469	0.0864	L	0.54323	1.7	0.29241	N	0.872638	D;P	0.76494	0.999;0.86	D;B	0.79784	0.993;0.28	T	0.12218	-1.0556	10	0.30078	T	0.28	-32.0456	11.5653	0.50802	0.0839:0.0:0.9161:0.0	.	677;869	E7ET33;Q06033	.;ITIH3_HUMAN	I	864;677;869	ENSP00000413922:V677I;ENSP00000415769:V869I	ENSP00000273291:V864I	V	+	1	0	ITIH3	52817669	0.964000	0.33143	0.995000	0.50966	0.833000	0.47200	1.484000	0.35508	1.395000	0.46643	0.655000	0.94253	GTC		0.537	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2		NM_002217	
KCNH7	90134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	163279898	163279898	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr2:163279898T>G	ENST00000332142.5	-	9	2201	c.2102A>C	c.(2101-2103)gAa>gCa	p.E701A	KCNH7_ENST00000328032.4_Missense_Mutation_p.E694A	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	701					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.E694A(1)|p.E701A(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GAAATATTCTTCAAGACGTTG	0.453																																					GBM(196;1492 2208 17507 24132 45496)												2	Substitution - Missense(2)	kidney(2)											249.0	232.0	238.0					2																	163279898		2203	4300	6503	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2102A>C	2.37:g.163279898T>G	ENSP00000331727:p.Glu701Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.805213	0.90623	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.96554	-4.05;-4.05	5.95	5.95	0.96441	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.97971	0.9332	M	0.81341	2.54	0.80722	D	1	D;P	0.89917	1.0;0.781	D;B	0.87578	0.998;0.41	D	0.97844	1.0270	10	0.34782	T	0.22	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	694;701	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	A	701;694	ENSP00000331727:E701A;ENSP00000333781:E694A	ENSP00000333781:E694A	E	-	2	0	KCNH7	162988144	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.279000	0.76181	0.533000	0.62120	GAA		0.453	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1		NM_033272	
KIAA0196	9897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	126075842	126075842	+	Missense_Mutation	SNP	T	T	C	rs369756799		TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr8:126075842T>C	ENST00000318410.7	-	11	1679	c.1330A>G	c.(1330-1332)Aaa>Gaa	p.K444E	KIAA0196_ENST00000517845.1_Missense_Mutation_p.K296E	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	444					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)		p.K444E(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GAACCCTCTTTCTTGTAATGC	0.388																																																	1	Substitution - Missense(1)	kidney(1)						T	GLU/LYS	0,4406		0,0,2203	120.0	111.0	114.0		1330	4.7	1.0	8		114	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA0196	NM_014846.3	56	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	444/1160	126075842	1,13005	2203	4300	6503	SO:0001583	missense	9897				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1330A>G	8.37:g.126075842T>C	ENSP00000318016:p.Lys444Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.906974	0.52333	0.0	1.16E-4	ENSG00000164961	ENST00000318410;ENST00000517845	D;D	0.85773	-2.03;-2.03	5.83	4.69	0.59074	.	0.175379	0.64402	D	0.000011	T	0.79299	0.4422	L	0.45698	1.435	0.52501	D	0.999957	B;B	0.14012	0.002;0.009	B;B	0.19391	0.008;0.025	T	0.72858	-0.4165	10	0.21014	T	0.42	-16.8086	11.3095	0.49356	0.0:0.0704:0.0:0.9296	.	296;444	E7EQI7;Q12768	.;STRUM_HUMAN	E	444;296	ENSP00000318016:K444E;ENSP00000429676:K296E	ENSP00000318016:K444E	K	-	1	0	KIAA0196	126145024	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.197000	0.58413	2.231000	0.72958	0.459000	0.35465	AAA		0.388	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1		NM_014846	
LAMA4	3910	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	112513053	112513053	+	Splice_Site	SNP	C	C	G			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr6:112513053C>G	ENST00000230538.7	-	6	901		c.e6-1		LAMA4_ENST00000389463.4_Splice_Site|LAMA4_ENST00000424408.2_Splice_Site|LAMA4_ENST00000522006.1_Splice_Site|LAMA4_ENST00000524032.1_Splice_Site	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4						blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.?(2)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGGAGCACATCTGAAGAGGAA	0.363																																																	2	Unknown(2)	lung(1)|kidney(1)											49.0	47.0	47.0					6																	112513053		2203	4300	6503	SO:0001630	splice_region_variant	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.504-1G>C	6.37:g.112513053C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Splice_Site	SNP	ENST00000230538.7	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771307	0.69992	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6753	0.95930	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMA4	112619746	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.452000	0.80683	2.648000	0.89879	0.563000	0.77884	.		0.363	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2		NM_001105206	Intron
MTOR	2475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11227530	11227530	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr1:11227530A>G	ENST00000361445.4	-	29	4374	c.4298T>C	c.(4297-4299)tTa>tCa	p.L1433S	snoU13_ENST00000607349.1_RNA	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1433	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.L1433S(2)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GGCATATTCTAACACTCCGGC	0.473																																																	2	Substitution - Missense(2)	breast(1)|kidney(1)											137.0	142.0	140.0					1																	11227530		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4298T>C	1.37:g.11227530A>G	ENSP00000354558:p.Leu1433Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.675763	0.67928	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.68181	-0.31	5.79	5.79	0.91817	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	D	0.85729	0.5764	M	0.92169	3.28	0.80722	D	1	D	0.65815	0.995	D	0.70487	0.969	D	0.89228	0.3575	10	0.87932	D	0	-13.8768	16.1299	0.81422	1.0:0.0:0.0:0.0	.	1433	P42345	MTOR_HUMAN	S	1433	ENSP00000354558:L1433S	ENSP00000354558:L1433S	L	-	2	0	MTOR	11150117	1.000000	0.71417	0.832000	0.32986	0.992000	0.81027	8.370000	0.90120	2.215000	0.71742	0.528000	0.53228	TTA		0.473	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1		NM_004958	
MYNN	55892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	169502437	169502437	+	Missense_Mutation	SNP	G	G	T	rs368467500		TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr3:169502437G>T	ENST00000349841.5	+	7	2174	c.1511G>T	c.(1510-1512)tGt>tTt	p.C504F	MYNN_ENST00000544106.1_Intron|MYNN_ENST00000356716.4_Missense_Mutation_p.C504F	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	504					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.C504F(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TGCGAATTATGTGGAAATTCT	0.264																																																	1	Substitution - Missense(1)	kidney(1)											44.0	51.0	49.0					3																	169502437		2193	4271	6464	SO:0001583	missense	55892			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.1511G>T	3.37:g.169502437G>T	ENSP00000326240:p.Cys504Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703198	0.88924	.	.	ENSG00000085274	ENST00000356716;ENST00000349841	D;D	0.85861	-2.04;-2.04	5.89	5.89	0.94794	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95053	0.8398	H	0.94222	3.51	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95590	0.8654	10	0.87932	D	0	.	20.2361	0.98357	0.0:0.0:1.0:0.0	.	504	Q9NPC7	MYNN_HUMAN	F	504	ENSP00000349150:C504F;ENSP00000326240:C504F	ENSP00000326240:C504F	C	+	2	0	MYNN	170985131	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.357000	0.90088	2.791000	0.96007	0.591000	0.81541	TGT		0.264	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1		NM_018657	
PCBP2	5094	broad.mit.edu;hgsc.bcm.edu	37	12	53853119	53853119	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr12:53853119G>A	ENST00000439930.3	+	5	329	c.307G>A	c.(307-309)Gtg>Atg	p.V103M	PCBP2_ENST00000359282.5_Missense_Mutation_p.V103M|PCBP2_ENST00000546463.1_Missense_Mutation_p.V103M|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000447282.1_Missense_Mutation_p.V103M|PCBP2_ENST00000437231.1_Missense_Mutation_p.V103M|PCBP2_ENST00000455667.3_Missense_Mutation_p.V103M|PCBP2_ENST00000541275.1_Missense_Mutation_p.V103M|PCBP2_ENST00000552296.2_Missense_Mutation_p.V103M|PCBP2_ENST00000603815.1_Missense_Mutation_p.V103M|PCBP2_ENST00000359462.5_Missense_Mutation_p.V103M|PCBP2_ENST00000548933.1_Missense_Mutation_p.V103M|PCBP2_ENST00000552819.1_Missense_Mutation_p.V103M|PCBP2_ENST00000549863.1_Missense_Mutation_p.V103M			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	103	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)	p.V103M(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						CCTGAGGCTGGTGGTCCCTGC	0.478																																																	1	Substitution - Missense(1)	kidney(1)											126.0	121.0	123.0					12																	53853119		2203	4300	6503	SO:0001583	missense	5094			BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.307G>A	12.37:g.53853119G>A	ENSP00000408949:p.Val103Met	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	ENST00000439930.3	37	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239272	0.79800	.	.	ENSG00000197111	ENST00000541275;ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000551104;ENST00000550520;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000546652;ENST00000379777	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	4.83	4.83	0.62350	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.059764	0.64402	D	0.000003	T	0.45875	0.1364	L	0.39397	1.21	0.80722	D	1	P;P;P;P;P;P;B;D;P	0.56287	0.951;0.931;0.933;0.56;0.888;0.917;0.344;0.975;0.784	P;P;P;P;P;P;B;D;P	0.63597	0.852;0.709;0.829;0.517;0.616;0.738;0.412;0.916;0.723	T	0.42189	-0.9466	10	0.66056	D	0.02	.	16.8303	0.85942	0.0:0.0:1.0:0.0	.	103;64;103;103;103;103;103;103;103	B4DLC0;F8VRG9;Q15366;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;PCBP2_HUMAN;.;.;.;.;.;.	M	103;103;103;103;103;103;103;45;103;103;95;103;64;103;103;103;84;65	ENSP00000446130:V103M;ENSP00000352228:V103M;ENSP00000394116:V103M;ENSP00000390304:V103M;ENSP00000408949:V103M;ENSP00000447670:V103M;ENSP00000352438:V103M;ENSP00000448762:V103M;ENSP00000446601:V103M;ENSP00000448847:V95M;ENSP00000448927:V103M;ENSP00000449070:V103M;ENSP00000388008:V103M;ENSP00000449062:V103M	ENSP00000352228:V103M	V	+	1	0	PCBP2	52139386	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	9.436000	0.97532	2.487000	0.83934	0.655000	0.94253	GTG		0.478	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2		NM_005016	
PCDHGA2	56113	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140718869	140718869	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr5:140718869G>T	ENST00000394576.2	+	1	331	c.331G>T	c.(331-333)Gag>Tag	p.E111*	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	111	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E111*(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTCTGCTGGAGGATAAATT	0.473																																																	2	Substitution - Nonsense(2)	kidney(2)											56.0	59.0	58.0					5																	140718869		2203	4300	6503	SO:0001587	stop_gained	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.331G>T	5.37:g.140718869G>T	ENSP00000378077:p.Glu111*	Somatic		WXS	Illumina HiSeq	Phase_I	Q52LL6|Q9Y5D5	Nonsense_Mutation	SNP	ENST00000394576.2	37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	12.18	1.859934	0.32884	.	.	ENSG00000081853	ENST00000394576	.	.	.	5.26	4.35	0.52113	.	0.000000	0.41938	U	0.000792	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.8848	0.58038	0.0845:0.0:0.9155:0.0	.	.	.	.	X	111	.	ENSP00000378077:E111X	E	+	1	0	PCDHGA2	140699053	0.998000	0.40836	0.998000	0.56505	0.085000	0.17905	2.662000	0.46766	1.268000	0.44264	-0.345000	0.07892	GAG		0.473	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1		NM_018915	
PLEKHG2	64857	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39915872	39915872	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr19:39915872A>G	ENST00000409794.3	+	19	4949	c.4099A>G	c.(4099-4101)Aca>Gca	p.T1367A	PLEKHG2_ENST00000378550.1_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000458508.2_Intron|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.T1338A	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1367					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T1325A(1)|p.T1367A(1)|p.?(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTTGGCCTCCACACAGGAATC	0.632																																																	3	Substitution - Missense(2)|Unknown(1)	kidney(3)											19.0	22.0	21.0					19																	39915872		2177	4247	6424	SO:0001583	missense	64857			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.4099A>G	19.37:g.39915872A>G	ENSP00000386733:p.Thr1367Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	A	4.502	0.093130	0.08632	.	.	ENSG00000090924	ENST00000409794;ENST00000425673	T;T	0.67171	-0.24;-0.25	5.23	-1.36	0.09085	.	0.571782	0.14666	N	0.305649	T	0.43233	0.1238	L	0.28274	0.84	0.43814	D	0.996376	B;B	0.23937	0.094;0.015	B;B	0.24269	0.052;0.01	T	0.11036	-1.0604	9	.	.	.	.	2.8516	0.05560	0.2947:0.4559:0.0933:0.1561	.	1338;1367	Q9H7P9-3;Q9H7P9	.;PKHG2_HUMAN	A	1367;1338	ENSP00000386733:T1367A;ENSP00000392906:T1338A	.	T	+	1	0	PLEKHG2	44607712	0.005000	0.15991	0.437000	0.26809	0.313000	0.28021	-0.395000	0.07287	-0.002000	0.14469	0.533000	0.62120	ACA		0.632	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1		NM_022835	
PLEKHH2	130271	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	43973091	43973091	+	Silent	SNP	A	A	T			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr2:43973091A>T	ENST00000282406.4	+	24	3752	c.3642A>T	c.(3640-3642)acA>acT	p.T1214T		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1214	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.T1214T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTCGTCTGACATACAAAAACA	0.378																																																	1	Substitution - coding silent(1)	kidney(1)											70.0	64.0	66.0					2																	43973091		2203	4300	6503	SO:0001819	synonymous_variant	130271			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3642A>T	2.37:g.43973091A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	ENST00000282406.4	37	CCDS1812.1																																																																																				0.378	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1		NM_172069	
PTCH1	5727	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	98209386	98209386	+	Silent	SNP	C	C	G			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr9:98209386C>G	ENST00000331920.6	-	23	4451	c.4152G>C	c.(4150-4152)ccG>ccC	p.P1384P	PTCH1_ENST00000429896.2_Silent_p.P1233P|PTCH1_ENST00000437951.1_Silent_p.P1318P|PTCH1_ENST00000430669.2_Silent_p.P1318P|PTCH1_ENST00000421141.1_Silent_p.P1233P|PTCH1_ENST00000375274.2_Silent_p.P1383P|PTCH1_ENST00000418258.1_Silent_p.P1233P	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1384					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.P1383P(2)|p.P1384P(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CAGGGACAGGCGGCGGGTGCA	0.692																																																	3	Substitution - coding silent(3)	kidney(3)											30.0	36.0	34.0					9																	98209386		2202	4297	6499	SO:0001819	synonymous_variant	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.4152G>C	9.37:g.98209386C>G		Somatic		WXS	Illumina HiSeq	Phase_I	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	ENST00000331920.6	37	CCDS6714.1																																																																																				0.692	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2		NM_000264	
PTPRS	5802	broad.mit.edu	37	19	5231368	5231368	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr19:5231368C>A	ENST00000587303.1	-	13	2207	c.2108G>T	c.(2107-2109)gGa>gTa	p.G703V	PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000262963.6_Missense_Mutation_p.G699V|PTPRS_ENST00000588012.1_Missense_Mutation_p.G690V|PTPRS_ENST00000372412.4_Missense_Mutation_p.G704V|PTPRS_ENST00000348075.2_Missense_Mutation_p.G690V|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000357368.4_Missense_Mutation_p.G703V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	703	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G703V(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGGCCCTGGTCCCACCTCTGT	0.697																																																	1	Substitution - Missense(1)	kidney(1)											56.0	52.0	53.0					19																	5231368		2203	4300	6503	SO:0001583	missense	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.2108G>T	19.37:g.5231368C>A	ENSP00000467537:p.Gly703Val	Somatic		WXS	Illumina GAIIx	Phase_I	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	c	22.1	4.250567	0.80135	.	.	ENSG00000105426	ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	3.9	3.9	0.45041	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000005	D	0.88310	0.6402	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.93118	0.6522	10	0.87932	D	0	.	16.0475	0.80731	0.0:1.0:0.0:0.0	.	690;703	Q13332-6;Q13332	.;PTPRS_HUMAN	V	704;703;703;703;699;690	ENSP00000361489:G704V;ENSP00000349932:G703V;ENSP00000262963:G699V;ENSP00000269907:G690V	ENSP00000262963:G699V	G	-	2	0	PTPRS	5182368	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.191000	0.77763	1.996000	0.58369	0.556000	0.70494	GGA		0.697	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			
RNF113A	7737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	119004755	119004755	+	Silent	SNP	G	G	A			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chrX:119004755G>A	ENST00000371442.2	-	1	1036	c.822C>T	c.(820-822)gtC>gtT	p.V274V	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	274							zinc ion binding (GO:0008270)	p.V274V(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						TGCACTTGGTGACAACTGGGT	0.498																																																	1	Substitution - coding silent(1)	kidney(1)											138.0	120.0	126.0					X																	119004755		2203	4300	6503	SO:0001819	synonymous_variant	7737			X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"""RING-type (C3HC4) zinc fingers"""	12974	protein-coding gene	gene with protein product			"""zinc finger protein 183 (RING finger, C3HC4 type)"""	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.822C>T	X.37:g.119004755G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RBR7	Silent	SNP	ENST00000371442.2	37	CCDS14589.1																																																																																				0.498	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058071.1		NM_006978	
SATB2	23314	broad.mit.edu;hgsc.bcm.edu	37	2	200193631	200193631	+	Silent	SNP	T	T	A			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr2:200193631T>A	ENST00000417098.1	-	8	1992	c.1176A>T	c.(1174-1176)ggA>ggT	p.G392G	SATB2_ENST00000260926.5_Silent_p.G392G|SATB2_ENST00000443023.1_Silent_p.G333G|SATB2_ENST00000457245.1_Silent_p.G392G|SATB2_ENST00000428695.1_Silent_p.G274G|RP11-486F17.1_ENST00000489557.2_RNA	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	392					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.G392G(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAGACAACAATCCCTGATTAA	0.463																																					Colon(30;262 767 11040 24421 36230)												1	Substitution - coding silent(1)	kidney(1)											49.0	48.0	48.0					2																	200193631		2203	4300	6503	SO:0001819	synonymous_variant	23314			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1176A>T	2.37:g.200193631T>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	37	CCDS2327.1																																																																																				0.463	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1		NM_015265	
SDCCAG8	10806	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	243581287	243581287	+	Silent	SNP	T	T	C			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr1:243581287T>C	ENST00000366541.3	+	15	1880	c.1762T>C	c.(1762-1764)Ttg>Ctg	p.L588L	SDCCAG8_ENST00000355875.4_Silent_p.L545L|SDCCAG8_ENST00000343783.6_Silent_p.L443L	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	588	Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)		p.L588L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		ACAGTATTTGTTGCTGACCTC	0.373																																																	1	Substitution - coding silent(1)	kidney(1)											109.0	110.0	110.0					1																	243581287		2203	4300	6503	SO:0001819	synonymous_variant	10806			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1762T>C	1.37:g.243581287T>C		Somatic		WXS	Illumina HiSeq	Phase_I	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Silent	SNP	ENST00000366541.3	37	CCDS31075.1																																																																																				0.373	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1		NM_006642	
SH3BP2	6452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	2833702	2833702	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr4:2833702A>G	ENST00000356331.5	+	10	1664	c.1403A>G	c.(1402-1404)gAa>gGa	p.E468G	SH3BP2_ENST00000511747.1_Missense_Mutation_p.E468G|SH3BP2_ENST00000435136.2_Missense_Mutation_p.E468G|SH3BP2_ENST00000503393.2_Missense_Mutation_p.E525G|SH3BP2_ENST00000452765.2_Missense_Mutation_p.E468G|SH3BP2_ENST00000442312.2_Missense_Mutation_p.E496G	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	468	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)	p.E468G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TGCGAAGTGGAAAGGTCAGCA	0.612									Cherubism																																								1	Substitution - Missense(1)	kidney(1)											96.0	73.0	81.0					4																	2833702		2203	4300	6503	SO:0001583	missense	6452	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	10825	protein-coding gene	gene with protein product		602104	"""Cherubism"""			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.1403A>G	4.37:g.2833702A>G	ENSP00000348685:p.Glu468Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Missense_Mutation	SNP	ENST00000356331.5	37	CCDS33944.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.295469	0.81025	.	.	ENSG00000087266	ENST00000452765;ENST00000442312;ENST00000435136;ENST00000511747;ENST00000503393;ENST00000356331	D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	5.2	5.2	0.72013	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.93674	0.7979	L	0.44542	1.39	0.80722	D	1	D;P;D;P;P	0.76494	0.986;0.941;0.999;0.747;0.658	P;P;D;B;P	0.71656	0.901;0.507;0.974;0.371;0.612	D	0.94130	0.7387	10	0.66056	D	0.02	-18.0486	13.2792	0.60205	1.0:0.0:0.0:0.0	.	496;443;443;525;468	B4DT04;Q6ZVU3;Q6ZTK4;D6R919;P78314	.;.;.;.;3BP2_HUMAN	G	468;496;468;468;525;468	ENSP00000409746:E468G;ENSP00000388152:E496G;ENSP00000403231:E468G;ENSP00000424846:E468G;ENSP00000422168:E525G;ENSP00000348685:E468G	ENSP00000348685:E468G	E	+	2	0	SH3BP2	2803500	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.303000	0.78871	1.953000	0.56701	0.533000	0.62120	GAA		0.612	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2		NM_003023	
SKI	6497	broad.mit.edu;hgsc.bcm.edu	37	1	2234822	2234822	+	Silent	SNP	G	G	A	rs374138016		TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr1:2234822G>A	ENST00000378536.4	+	3	1266	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	398					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P398P(1)		central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CACACCTCCCGGCCCTCATCC	0.642																																					Ovarian(177;144 1678 13697 20086 27838 40755)												1	Substitution - coding silent(1)	kidney(1)								1,4405	2.1+/-5.4	0,1,2202	79.0	81.0	80.0		1194	-7.9	0.9	1		80	0,8600		0,0,4300	no	coding-synonymous	SKI	NM_003036.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		398/729	2234822	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6497			X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1194G>A	1.37:g.2234822G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5SYT7	Silent	SNP	ENST00000378536.4	37	CCDS39.1																																																																																				0.642	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1		NM_003036	
SLCO1A2	6579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	21454187	21454187	+	Silent	SNP	T	T	A			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr12:21454187T>A	ENST00000307378.6	-	8	1326	c.606A>T	c.(604-606)ggA>ggT	p.G202G	SLCO1A2_ENST00000537524.1_Silent_p.G70G|SLCO1A2_ENST00000458504.1_Silent_p.G70G|SLCO1A2_ENST00000390670.3_Silent_p.G200G|SLCO1A2_ENST00000452078.1_Silent_p.G202G	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	202					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.G202G(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	CAATAATAGCTCCTGTTTCTA	0.333																																																	1	Substitution - coding silent(1)	kidney(1)											61.0	56.0	58.0					12																	21454187		2203	4298	6501	SO:0001819	synonymous_variant	6579				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.606A>T	12.37:g.21454187T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9UGP7|Q9UL38	Silent	SNP	ENST00000307378.6	37	CCDS8686.1																																																																																				0.333	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3		NM_021094	
SPTA1	6708	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	158582607	158582607	+	Splice_Site	SNP	C	C	A			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr1:158582607C>A	ENST00000368147.4	-	51	7314	c.7134G>T	c.(7132-7134)caG>caT	p.Q2378H	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2378	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.Q2378H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGAATCGGACCTGCTTCATGT	0.458																																																	1	Substitution - Missense(1)	kidney(1)											133.0	130.0	131.0					1																	158582607		1930	4128	6058	SO:0001630	splice_region_variant	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.7134+1G>T	1.37:g.158582607C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815393	0.90790	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.43688	0.94;0.94	5.09	5.09	0.68999	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.000000	0.30809	N	0.008838	T	0.47875	0.1469	L	0.46614	1.455	0.51482	D	0.999922	P	0.51147	0.942	P	0.59595	0.86	T	0.43212	-0.9405	10	0.62326	D	0.03	.	17.5944	0.88007	0.0:1.0:0.0:0.0	.	2378	P02549	SPTA1_HUMAN	H	2378;2375	ENSP00000357130:Q2378H;ENSP00000357129:Q2375H	ENSP00000357129:Q2375H	Q	-	3	2	SPTA1	156849231	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.312000	0.51927	2.795000	0.96236	0.655000	0.94253	CAG		0.458	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3		NM_003126	Missense_Mutation
TRADD	8717	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67190505	67190505	+	Missense_Mutation	SNP	T	T	C	rs201153612		TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr16:67190505T>C	ENST00000345057.4	-	2	527	c.59A>G	c.(58-60)gAg>gGg	p.E20G	TRADD_ENST00000566104.1_5'UTR|TRADD_ENST00000486556.1_5'Flank	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	20					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)	p.E20G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CAGCGAGGACTCCACAAACAG	0.607											OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											204.0	155.0	172.0					16																	67190505		2198	4300	6498	SO:0001583	missense	8717			L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.59A>G	16.37:g.67190505T>C	ENSP00000341268:p.Glu20Gly	Somatic	1097	WXS	Illumina HiSeq	Phase_I	B2RDS3|B3KQZ9|Q52NZ1	Missense_Mutation	SNP	ENST00000345057.4	37	CCDS10829.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.366163	0.82463	.	.	ENSG00000102871	ENST00000345057	.	.	.	4.63	4.63	0.57726	TRADD, N-terminal (3);	0.341623	0.31199	N	0.008077	T	0.69169	0.3081	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.68443	-0.5407	9	0.40728	T	0.16	-26.8092	10.3546	0.43956	0.0:0.0:0.0:1.0	.	20;20	B4DWM0;Q15628	.;TRADD_HUMAN	G	20	.	ENSP00000341268:E20G	E	-	2	0	TRADD	65748006	1.000000	0.71417	0.986000	0.45419	0.960000	0.62799	2.388000	0.44398	1.961000	0.56991	0.379000	0.24179	GAG		0.607	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2			
VHL	7428	hgsc.bcm.edu	37	3	10183811	10183811	+	Nonsense_Mutation	SNP	G	G	T	rs5030829		TCGA-BP-5001-01A-01D-1392-10	TCGA-BP-5001-11A-01D-1392-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2427ca6-bcd0-4ab1-8e6d-3f48f7ff3a37	971f136c-e7eb-442a-a028-7491d68f3e57	g.chr3:10183811G>T	ENST00000256474.2	+	1	1120	c.280G>T	c.(280-282)Gag>Tag	p.E94*	VHL_ENST00000345392.2_Nonsense_Mutation_p.E94*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	94			Missing (in VHLD; type I).		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.E94fs*39(1)|p.E94*(1)|p.F91fs*64(1)|p.R60fs*35(1)|p.P95fs*38(1)|p.E94fs*37(1)|p.V84_E94>E(1)|p.E94fs*66(1)|p.D92fs*65(1)|p.N90fs*38(1)|p.F91_E94del(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)		CTTCGACGGCGAGCCGCAGCC	0.701		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"""	11	Deletion - Frameshift(4)|Insertion - Frameshift(3)|Deletion - In frame(1)|Substitution - Nonsense(1)|Complex - frameshift(1)|Complex - deletion inframe(1)	kidney(11)	GRCh37	CM941369	VHL	M	rs5030829						13.0	15.0	14.0					3																	10183811		1937	3914	5851	SO:0001587	stop_gained	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.280G>T	3.37:g.10183811G>T	ENSP00000256474:p.Glu94*	Somatic		WXS	Illumina MiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	36	5.874820	0.97055	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.16	4.23	0.50019	.	0.770667	0.12658	N	0.449860	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-3.4053	14.9261	0.70878	0.0:0.1572:0.8428:0.0	rs5030829	.	.	.	X	94	.	ENSP00000256474:E94X	E	+	1	0	VHL	10158811	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.161000	0.42358	2.416000	0.81992	0.550000	0.68814	GAG		0.701	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WAC	51322	hgsc.bcm.edu;ucsc.edu	37	10	28878756	28878756	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr10:28878756delA	ENST00000354911.4	+	5	634	c.473delA	c.(472-474)gaafs	p.E158fs	WAC_ENST00000428935.1_Frame_Shift_Del_p.E113fs|WAC_ENST00000375646.1_Frame_Shift_Del_p.E113fs|WAC_ENST00000347934.4_Frame_Shift_Del_p.E158fs|WAC_ENST00000375664.4_Frame_Shift_Del_p.E113fs	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	158	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TCACAATGGGAAAAACCAAAA	0.338																																																	0													76.0	82.0	80.0					10																	28878756		2203	4300	6503	SO:0001589	frameshift_variant	51322			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.473delA	10.37:g.28878756delA	ENSP00000346986:p.Glu158fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Frame_Shift_Del	DEL	ENST00000354911.4	37	CCDS7159.1																																																																																				0.338	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1		NM_100264	
VWA2	340706	broad.mit.edu	37	10	116045700	116045700	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr10:116045700C>A	ENST00000392982.3	+	11	1250	c.1000C>A	c.(1000-1002)Ctg>Atg	p.L334M	VWA2_ENST00000603594.1_Missense_Mutation_p.L334M			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	334					calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)	p.L334M(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CCCCGCAGCCCTGAAGCTGAG	0.617																																																	1	Substitution - Missense(1)	kidney(1)											55.0	46.0	49.0					10																	116045700		2203	4300	6503	SO:0001583	missense	340706			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1000C>A	10.37:g.116045700C>A	ENSP00000376708:p.Leu334Met	Somatic		WXS	Illumina GAIIx	Phase_I	A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37		.	.	.	.	.	.	.	.	.	.	C	15.14	2.743963	0.49151	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	T	0.78707	-1.2	5.8	4.89	0.63831	.	0.117006	0.64402	D	0.000015	T	0.76300	0.3968	L	0.37697	1.125	0.26957	N	0.965907	P;P;P	0.49358	0.904;0.874;0.923	P;B;P	0.50440	0.563;0.438;0.641	T	0.70230	-0.4929	10	0.44086	T	0.13	.	14.2607	0.66083	0.0:0.9279:0.0:0.0721	.	30;334;334	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	M	334	ENSP00000376708:L334M	ENSP00000298715:L334M	L	+	1	2	VWA2	116035690	1.000000	0.71417	0.988000	0.46212	0.475000	0.33008	5.517000	0.67061	1.442000	0.47568	0.557000	0.71058	CTG		0.617	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3		NM_198496	
ZNF280B	140883	hgsc.bcm.edu	37	22	22842518	22842518	+	Silent	SNP	G	G	A	rs73156173	byFrequency	TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr22:22842518G>A	ENST00000406426.1	-	4	1948	c.1206C>T	c.(1204-1206)ccC>ccT	p.P402P	ZNF280B_ENST00000360412.2_Silent_p.P402P			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GGCACACATAGGGCATTTCGC	0.423																																																	0													125.0	118.0	120.0					22																	22842518		2203	4300	6503	SO:0001819	synonymous_variant	140883			AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1206C>T	22.37:g.22842518G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000406426.1	37	CCDS13799.1																																																																																				0.423	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2		NM_080764	
ZNF880	400713	hgsc.bcm.edu	37	19	52888050	52888050	+	Missense_Mutation	SNP	A	A	G	rs76053634	byFrequency	TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr19:52888050A>G	ENST00000422689.2	+	4	1232	c.1217A>G	c.(1216-1218)cAa>cGa	p.Q406R		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	406					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						ACGGGAGAGCAACCTTACAAA	0.398																																																	0													70.0	64.0	66.0					19																	52888050		1568	3582	5150	SO:0001583	missense	400713			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.1217A>G	19.37:g.52888050A>G	ENSP00000406318:p.Gln406Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B4DNA6	Missense_Mutation	SNP	ENST00000422689.2	37	CCDS46164.1	.	.	.	.	.	.	.	.	.	.	A	4.567	0.105370	0.08731	.	.	ENSG00000221923	ENST00000422689	T	0.15718	2.4	1.84	1.84	0.25277	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04182	0.0116	N	0.00392	-1.555	0.19775	N	0.999952	B	0.17667	0.023	B	0.23150	0.044	T	0.43360	-0.9396	8	.	.	.	.	8.4442	0.32833	1.0:0.0:0.0:0.0	.	406	Q6PDB4	ZN880_HUMAN	R	406	ENSP00000406318:Q406R	.	Q	+	2	0	ZNF880	57579862	0.002000	0.14202	0.418000	0.26571	0.177000	0.22998	0.149000	0.16243	0.834000	0.34852	0.450000	0.29827	CAA		0.398	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1		NM_001145434	
