#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_refseq_mrna_id	i_secondary_variant_classification
MYBPHL	343263	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	109840820	109840820	+	Missense_Mutation	SNP	C	C	A			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr1:109840820C>A	ENST00000357155.1	-	2	254	c.205G>T	c.(205-207)Gac>Tac	p.D69Y	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	69	Ig-like C2-type 1.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		TTCACTGTGTCCCCAACCTTC	0.532																																						.											0													177.0	156.0	163.0					1																	109840820		2203	4300	6503	SO:0001583	missense	343263			AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.205G>T	1.37:g.109840820C>A	ENSP00000349678:p.Asp69Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZME5|Q5T2Z7	Missense_Mutation	SNP	ENST00000357155.1	37	CCDS30793.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107050	0.94292	.	.	ENSG00000221986	ENST00000357155	T	0.47177	0.85	5.53	5.53	0.82687	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62183	0.2407	M	0.72353	2.195	0.42276	D	0.992075	D;P	0.62365	0.991;0.942	D;P	0.68621	0.959;0.853	T	0.63296	-0.6669	9	0.66056	D	0.02	.	17.004	0.86388	0.0:1.0:0.0:0.0	.	69;69	B7ZME5;A2RUH7	.;MBPHL_HUMAN	Y	69	ENSP00000349678:D69Y	ENSP00000349678:D69Y	D	-	1	0	MYBPHL	109642343	1.000000	0.71417	0.979000	0.43373	0.996000	0.88848	7.240000	0.78192	2.882000	0.98803	0.655000	0.94253	GAC		0.532	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985	
TRIM22	10346	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	5717467	5717467	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr11:5717467A>G	ENST00000379965.3	+	2	282	c.5A>G	c.(4-6)gAt>gGt	p.D2G	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	2					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		AGTGCAATGGATTTCTCAGTA	0.507																																					GBM(104;491 2336 5222)	.											0													73.0	79.0	77.0					11																	5717467		2201	4297	6498	SO:0001583	missense	10346			X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.5A>G	11.37:g.5717467A>G	ENSP00000369299:p.Asp2Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.867032	0.32977	.	.	ENSG00000132274	ENST00000379965;ENST00000425490;ENST00000454828;ENST00000414641;ENST00000455293	T;T;T;T	0.72835	-0.23;-0.51;-0.16;-0.69	4.24	0.943	0.19531	.	.	.	.	.	T	0.49847	0.1581	N	0.11201	0.11	0.23559	N	0.99741	P;B;B	0.34662	0.462;0.053;0.113	B;B;B	0.31946	0.045;0.138;0.05	T	0.39683	-0.9602	9	0.72032	D	0.01	.	10.8196	0.46597	0.5695:0.4305:0.0:0.0	.	2;2;2	C9JWC5;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	G	2	ENSP00000369299:D2G;ENSP00000400417:D2G;ENSP00000393250:D2G;ENSP00000396849:D2G	ENSP00000369299:D2G	D	+	2	0	TRIM22	5674043	0.005000	0.15991	0.241000	0.24154	0.214000	0.24535	-0.085000	0.11250	0.050000	0.15949	0.383000	0.25322	GAT		0.507	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074	
BIRC3	330	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	102206944	102206944	+	Missense_Mutation	SNP	T	T	G			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr11:102206944T>G	ENST00000263464.3	+	7	4322	c.1572T>G	c.(1570-1572)caT>caG	p.H524Q	BIRC3_ENST00000532808.1_Missense_Mutation_p.H524Q	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	524	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TATATGAGCATTTATTTGGTG	0.294			T	MALT1	MALT																																	.		Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	0													83.0	89.0	87.0					11																	102206944		2203	4299	6502	SO:0001583	missense	330			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.1572T>G	11.37:g.102206944T>G	ENSP00000263464:p.His524Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	T	1.193	-0.634855	0.03584	.	.	ENSG00000023445	ENST00000263464;ENST00000532808;ENST00000532609	T;T	0.19532	2.14;2.14	5.19	2.8	0.32819	DEATH-like (2);Caspase Recruitment (3);	0.758047	0.13895	N	0.355330	T	0.09598	0.0236	N	0.12182	0.205	0.09310	N	1	B	0.11235	0.004	B	0.19666	0.026	T	0.38134	-0.9675	10	0.12430	T	0.62	.	4.7537	0.13073	0.1358:0.2514:0.0:0.6127	.	524	Q13489	BIRC3_HUMAN	Q	524;524;292	ENSP00000263464:H524Q;ENSP00000432907:H524Q	ENSP00000263464:H524Q	H	+	3	2	BIRC3	101712154	0.908000	0.30866	0.680000	0.29994	0.155000	0.21991	-0.157000	0.10085	0.994000	0.38892	0.482000	0.46254	CAT		0.294	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165	
KCNH5	27133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	14	63174364	63174364	+	Silent	SNP	C	C	T			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr14:63174364C>T	ENST00000322893.7	-	11	3097	c.2829G>A	c.(2827-2829)tcG>tcA	p.S943S	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	943	CAD (involved in subunit assembly). {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGCTTTTTTCCGACAGTATTT	0.478																																						.											0													129.0	139.0	136.0					14																	63174364		2203	4300	6503	SO:0001819	synonymous_variant	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2829G>A	14.37:g.63174364C>T		Somatic		WXS	Illumina HiSeq	Phase_I	C9JP98	Silent	SNP	ENST00000322893.7	37	CCDS9756.1																																																																																				0.478	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318	
SPTBN5	51332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	42143342	42143342	+	Missense_Mutation	SNP	C	C	T			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr15:42143342C>T	ENST00000320955.6	-	65	10977	c.10750G>A	c.(10750-10752)Gct>Act	p.A3584T	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3584	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCTATGGAAGCTACTTTCTGA	0.617																																						.											0													33.0	36.0	35.0					15																	42143342		2037	4183	6220	SO:0001583	missense	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.10750G>A	15.37:g.42143342C>T	ENSP00000317790:p.Ala3584Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	.	14.93	2.683294	0.47991	.	.	ENSG00000137877	ENST00000320955	T	0.30182	1.54	4.22	3.28	0.37604	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.220258	0.27886	N	0.017458	T	0.28797	0.0714	L	0.38175	1.15	0.09310	N	1	D	0.60160	0.987	P	0.47102	0.537	T	0.08534	-1.0717	10	0.48119	T	0.1	.	11.7679	0.51941	0.0:0.8225:0.1775:0.0	.	3584	Q9NRC6	SPTN5_HUMAN	T	3584	ENSP00000317790:A3584T	ENSP00000317790:A3584T	A	-	1	0	SPTBN5	39930634	0.000000	0.05858	0.005000	0.12908	0.042000	0.13812	-0.280000	0.08468	1.106000	0.41623	0.561000	0.74099	GCT		0.617	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642	
DNAJA2	10294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	46991077	46991077	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr16:46991077G>A	ENST00000317089.5	-	9	1318	c.1103C>T	c.(1102-1104)aCa>aTa	p.T368I		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	368					positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TACCTCCTCTGTTTCTCCAAT	0.418																																						.											0													232.0	232.0	232.0					16																	46991077		2203	4300	6503	SO:0001583	missense	10294			AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"""Heat shock proteins / DNAJ (HSP40)"""	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.1103C>T	16.37:g.46991077G>A	ENSP00000314030:p.Thr368Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B2R7L7|O14711	Missense_Mutation	SNP	ENST00000317089.5	37	CCDS10726.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554228	0.27739	.	.	ENSG00000069345	ENST00000317089	T	0.37584	1.19	5.57	5.57	0.84162	.	0.049770	0.85682	D	0.000000	T	0.34919	0.0914	L	0.43923	1.385	0.49915	D	0.999831	B	0.16802	0.019	B	0.15484	0.013	T	0.06180	-1.0841	10	0.27785	T	0.31	-6.023	19.5403	0.95271	0.0:0.0:1.0:0.0	.	368	O60884	DNJA2_HUMAN	I	368	ENSP00000314030:T368I	ENSP00000314030:T368I	T	-	2	0	DNAJA2	45548578	1.000000	0.71417	0.985000	0.45067	0.937000	0.57800	5.020000	0.64066	2.623000	0.88846	0.561000	0.74099	ACA		0.418	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2		
TANGO6	79613	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	68961835	68961835	+	Missense_Mutation	SNP	C	C	G			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr16:68961835C>G	ENST00000261778.1	+	13	2504	c.2492C>G	c.(2491-2493)tCt>tGt	p.S831C	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	831						integral component of membrane (GO:0016021)											AGTCAGAAATCTGGAAGCGTA	0.522																																						.											0													57.0	59.0	58.0					16																	68961835		1957	4157	6114	SO:0001583	missense	79613				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2492C>G	16.37:g.68961835C>G	ENSP00000261778:p.Ser831Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	C	8.651	0.898148	0.17686	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.37	4.42	0.53409	Armadillo-type fold (1);	1.039830	0.07516	N	0.909757	T	0.25531	0.0621	N	0.19112	0.55	0.09310	N	1	D	0.55800	0.973	P	0.46975	0.533	T	0.10314	-1.0635	9	0.48119	T	0.1	-0.0017	6.1402	0.20255	0.136:0.6561:0.1319:0.076	.	831	Q9C0B7	TMCO7_HUMAN	C	831	.	ENSP00000261778:S831C	S	+	2	0	TMCO7	67519336	0.003000	0.15002	0.002000	0.10522	0.156000	0.22039	1.705000	0.37867	1.269000	0.44280	0.655000	0.94253	TCT		0.522	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2	
TMED1	11018	broad.mit.edu;hgsc.bcm.edu	37	19	10943859	10943865	+	Frame_Shift_Del	DEL	CCAGCCG	CCAGCCG	-	rs140257821		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	CCAGCCG	CCAGCCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr19:10943859_10943865delCCAGCCG	ENST00000214869.2	-	4	588_594	c.490_496delCGGCTGG	c.(490-498)cggctggagfs	p.RLE164fs	TMED1_ENST00000591695.1_Frame_Shift_Del_p.PGW102fs|TMED1_ENST00000588289.1_Frame_Shift_Del_p.RLE19fs	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	164					cell-cell signaling (GO:0007267)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						ATGCTGCGCTCCAGCCGGGTCCGCATG	0.623																																						.											0																																										SO:0001589	frameshift_variant	11018			U41804	CCDS12249.1	19p13.2	2008-02-05	2005-08-26			ENSG00000099203			17291	protein-coding gene	gene with protein product		605395	"""transmembrane emp24 domain containing 1"""			11466339, 8621446	Standard	NM_006858		Approved	ST2L, MGC1270, IL1RL1LG, Il1rl1l	uc002mpy.3	Q13445		ENST00000214869.2:c.490_496delCGGCTGG	19.37:g.10943859_10943865delCCAGCCG	ENSP00000214869:p.Arg164fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000214869.2	37	CCDS12249.1																																																																																				0.623	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452614.1	NM_006858	
ZNF799	90576	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	12501695	12501695	+	Missense_Mutation	SNP	C	C	A	rs201843472		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr19:12501695C>A	ENST00000430385.3	-	4	1717	c.1517G>T	c.(1516-1518)tGt>tTt	p.C506F	ZNF799_ENST00000419318.1_Missense_Mutation_p.C474F|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	506					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						ACATGTGTTACACTCATAAGG	0.388													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21476	0.0		0.0	False		,,,				2504	0.0					.											0													96.0	100.0	99.0					19																	12501695		2202	4300	6502	SO:0001583	missense	90576			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1517G>T	19.37:g.12501695C>A	ENSP00000411084:p.Cys506Phe	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	15.76	2.928813	0.52759	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	D;D	0.85088	-1.94;-1.94	1.14	1.14	0.20703	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94238	0.8150	H	0.98295	4.195	0.37708	D	0.924487	D	0.76494	0.999	D	0.69479	0.964	D	0.94528	0.7733	9	0.87932	D	0	.	9.8115	0.40826	0.0:1.0:0.0:0.0	.	506	Q96GE5	ZN799_HUMAN	F	474;506	ENSP00000415278:C474F;ENSP00000411084:C506F	ENSP00000415278:C474F	C	-	2	0	ZNF799	12362695	0.984000	0.35163	0.023000	0.16930	0.370000	0.29829	3.155000	0.50700	0.922000	0.37019	0.195000	0.17529	TGT		0.388	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821	
NCOA3	8202	hgsc.bcm.edu	37	20	46279839	46279839	+	Silent	SNP	G	G	A	rs147879509|rs2664555|rs397778717|rs3830809		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr20:46279839G>A	ENST00000371998.3	+	20	3956	c.3765G>A	c.(3763-3765)caG>caA	p.Q1255Q	NCOA3_ENST00000372004.3_Silent_p.Q1251Q|NCOA3_ENST00000371997.3_Silent_p.Q1246Q|NCOA3_ENST00000341724.6_Silent_p.Q1181Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1255	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1255delQ(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcaacagcagcagcagc	0.557																																						.											1	Deletion - In frame(1)	upper_aerodigestive_tract(1)											41.0	44.0	43.0					20																	46279839		2202	4300	6502	SO:0001819	synonymous_variant	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3765G>A	20.37:g.46279839G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																				0.557	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	
PARD3B	117583	broad.mit.edu;hgsc.bcm.edu	37	2	206110537	206110538	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr2:206110537_206110538insA	ENST00000406610.2	+	16	2383_2384	c.2176_2177insA	c.(2176-2178)caafs	p.Q726fs	PARD3B_ENST00000351153.1_Frame_Shift_Ins_p.Q726fs|PARD3B_ENST00000462231.1_Frame_Shift_Ins_p.Q726fs|PARD3B_ENST00000349953.3_Frame_Shift_Ins_p.Q726fs|PARD3B_ENST00000358768.2_Frame_Shift_Ins_p.Q664fs	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	726					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ATTGGCTGGACAAAAATCGGGT	0.401																																						.											0																																										SO:0001589	frameshift_variant	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2181dupA	2.37:g.206110542_206110542dupA	ENSP00000385848:p.Gln726fs	Somatic		WXS	Illumina HiSeq	Phase_I	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Frame_Shift_Ins	INS	ENST00000406610.2	37																																																																																					0.401	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177	
ANKRD17	26057	broad.mit.edu;hgsc.bcm.edu	37	4	74012976	74012979	+	Frame_Shift_Del	DEL	TAAC	TAAC	-			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	TAAC	TAAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr4:74012976_74012979delTAAC	ENST00000358602.4	-	9	1854_1857	c.1738_1741delGTTA	c.(1738-1743)gttaaafs	p.VK580fs	ANKRD17_ENST00000514252.1_Intron|ANKRD17_ENST00000509867.2_Frame_Shift_Del_p.VK467fs|ANKRD17_ENST00000330838.6_Frame_Shift_Del_p.VK580fs	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	580					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATAAGTATTTAACTAACTCCAAA	0.363																																						.											0																																										SO:0001589	frameshift_variant	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.1738_1741delGTTA	4.37:g.74012980_74012983delTAAC	ENSP00000351416:p.Val580fs	Somatic		WXS	Illumina HiSeq	Phase_I	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Frame_Shift_Del	DEL	ENST00000358602.4	37	CCDS34004.1																																																																																				0.363	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	
CNOT4	4850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	7	135079031	135079031	+	Silent	SNP	T	T	C			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr7:135079031T>C	ENST00000315544.5	-	10	1545	c.1266A>G	c.(1264-1266)gaA>gaG	p.E422E	CNOT4_ENST00000451834.1_Silent_p.E419E|CNOT4_ENST00000541284.1_Silent_p.E422E|CNOT4_ENST00000361528.4_Silent_p.E419E|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000428680.2_Silent_p.E419E|CNOT4_ENST00000423368.2_Silent_p.E422E|CNOT4_ENST00000356162.4_Intron	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	422					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GAACGGACAGTTCCTTCTCAA	0.488																																					Ovarian(51;766 1130 5502 35047 50875)	.											0													134.0	135.0	134.0					7																	135079031		1979	4155	6134	SO:0001819	synonymous_variant	4850			AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1266A>G	7.37:g.135079031T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Silent	SNP	ENST00000315544.5	37	CCDS55166.1																																																																																				0.488	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316	
TSC1	7248	broad.mit.edu;hgsc.bcm.edu	37	9	135779084	135779093	+	Frame_Shift_Del	DEL	CGGAGGAGCC	CGGAGGAGCC	-	rs397514803		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	CGGAGGAGCC	CGGAGGAGCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr9:135779084_135779093delCGGAGGAGCC	ENST00000298552.3	-	17	2374_2383	c.2153_2162delGGCTCCTCCG	c.(2152-2163)cggctcctccgcfs	p.RLLR718fs	TSC1_ENST00000440111.2_Frame_Shift_Del_p.RLLR718fs|TSC1_ENST00000545250.1_Frame_Shift_Del_p.RLLR667fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	718					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.R721fs*9(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GATCACCTTGCGGAGGAGCCGCCTGTTCCG	0.533			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													.	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	2	Unknown(1)|Deletion - Frameshift(1)	ovary(1)|bone(1)																																								SO:0001589	frameshift_variant	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2153_2162delGGCTCCTCCG	9.37:g.135779084_135779093delCGGAGGAGCC	ENSP00000298552:p.Arg718fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z897|Q5VVN5	Frame_Shift_Del	DEL	ENST00000298552.3	37	CCDS6956.1																																																																																				0.533	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1		
MYO18B	84700	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	22	26351240	26351240	+	Missense_Mutation	SNP	G	G	C			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr22:26351240G>C	ENST00000407587.2	+	39	6238	c.6069G>C	c.(6067-6069)caG>caC	p.Q2023H	MYO18B_ENST00000335473.7_Missense_Mutation_p.Q2022H|MYO18B_ENST00000536101.1_Missense_Mutation_p.Q2022H			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2022	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGAGCAGCCAGTACTACCAGC	0.662																																						.											0													22.0	29.0	26.0					22																	26351240		1967	4148	6115	SO:0001583	missense	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6069G>C	22.37:g.26351240G>C	ENSP00000386096:p.Gln2023His	Somatic		WXS	Illumina HiSeq	Phase_I	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	G	13.81	2.347182	0.41599	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87412	-2.22;-2.22;-2.25	4.86	-3.03	0.05429	.	0.165305	0.42172	D	0.000742	T	0.80834	0.4699	L	0.36672	1.1	0.32480	N	0.541574	P;P;P;P;P	0.47604	0.898;0.836;0.836;0.874;0.898	P;B;B;P;P	0.49752	0.526;0.326;0.326;0.621;0.526	T	0.78617	-0.2134	10	0.72032	D	0.01	.	5.1107	0.14808	0.3885:0.2584:0.3531:0.0	.	1535;2024;2022;2023;2022	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.;.;MY18B_HUMAN;.;.	H	2022;2022;2023	ENSP00000441229:Q2022H;ENSP00000334563:Q2022H;ENSP00000386096:Q2023H	ENSP00000334563:Q2022H	Q	+	3	2	MYO18B	24681240	0.005000	0.15991	0.939000	0.37840	0.335000	0.28730	-0.611000	0.05622	-0.278000	0.09180	-0.226000	0.12346	CAG		0.662	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
CLPTM1L	81037	hgsc.bcm.edu	37	5	1344897	1344897	+	Silent	SNP	C	C	A			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr5:1344897C>A	ENST00000320895.5	-	1	317	c.60G>T	c.(58-60)gtG>gtT	p.V20V	CLPTM1L_ENST00000320927.6_Silent_p.V20V	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	20					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		AGGTGTGCACCACGTAGACCA	0.721																																						.											0													24.0	22.0	23.0					5																	1344897		2188	4293	6481	SO:0001819	synonymous_variant	81037			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.60G>T	5.37:g.1344897C>A		Somatic		WXS	Illumina HiSeq	Phase_I	D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Silent	SNP	ENST00000320895.5	37	CCDS3862.1																																																																																				0.721	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782	
NUDT12	83594	hgsc.bcm.edu	37	5	102891744	102891744	+	Silent	SNP	G	G	A			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr5:102891744G>A	ENST00000230792.2	-	4	948	c.852C>T	c.(850-852)tgC>tgT	p.C284C	NUDT12_ENST00000515407.1_5'UTR|NUDT12_ENST00000507423.1_Silent_p.C266C	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	284					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		CACAGGTTGGGCAAAACTTGT	0.368																																						.											0													103.0	100.0	101.0					5																	102891744		2202	4300	6502	SO:0001819	synonymous_variant	83594			AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.852C>T	5.37:g.102891744G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KUW2|Q8TAL7	Silent	SNP	ENST00000230792.2	37	CCDS4096.1																																																																																				0.368	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438	
HCFC1	3054	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	153220585	153220585	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chrX:153220585T>C	ENST00000310441.7	-	17	4231	c.3265A>G	c.(3265-3267)Aac>Gac	p.N1089D	HCFC1_ENST00000369984.4_Missense_Mutation_p.N1089D|HCFC1_ENST00000354233.3_Missense_Mutation_p.N1020D	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1089					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					gtggcggtgttggtggtgCCC	0.642																																						.											0													35.0	43.0	41.0					X																	153220585		2173	4254	6427	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.3265A>G	X.37:g.153220585T>C	ENSP00000309555:p.Asn1089Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	t	13.39	2.221672	0.39300	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.04551	3.65;3.64;3.6	4.9	0.883	0.19177	.	0.576812	0.19428	N	0.114508	T	0.06096	0.0158	L	0.49126	1.545	0.42729	D	0.993701	B	0.15141	0.012	B	0.16289	0.015	T	0.26430	-1.0103	10	0.39692	T	0.17	.	12.6669	0.56848	0.0:0.0:0.6157:0.3843	.	1089	P51610	HCFC1_HUMAN	D	1089;1089;1020	ENSP00000309555:N1089D;ENSP00000359001:N1089D;ENSP00000346174:N1020D	ENSP00000309555:N1089D	N	-	1	0	HCFC1	152873779	1.000000	0.71417	0.632000	0.29296	0.666000	0.39218	1.816000	0.38992	-0.194000	0.10399	0.427000	0.28365	AAC		0.642	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334	
BMP8A	353500	broad.mit.edu	37	1	39987055	39987055	+	Silent	SNP	C	C	T			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr1:39987055C>T	ENST00000331593.5	+	4	1027	c.681C>T	c.(679-681)agC>agT	p.S227S	RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	227					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|diet induced thermogenesis (GO:0002024)|growth (GO:0040007)|negative regulation of insulin secretion (GO:0046676)|ossification (GO:0001503)|regulation of energy homeostasis (GO:2000505)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGGGCACAGCGTGGATCCTG	0.672																																						.											0													17.0	15.0	16.0					1																	39987055		1801	3426	5227	SO:0001819	synonymous_variant	353500			AY303954	CCDS437.1	1p35-p32	2014-01-30			ENSG00000183682	ENSG00000183682		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	21650	protein-coding gene	gene with protein product							Standard	NM_181809		Approved		uc001cdi.3	Q7Z5Y6	OTTHUMG00000008394	ENST00000331593.5:c.681C>T	1.37:g.39987055C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5T3A5	Silent	SNP	ENST00000331593.5	37	CCDS437.1																																																																																				0.672	BMP8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023079.1	NM_181809	
RNPEP	6051	broad.mit.edu	37	1	201969125	201969125	+	Missense_Mutation	SNP	C	C	T	rs140770038		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr1:201969125C>T	ENST00000295640.4	+	6	1229	c.1186C>T	c.(1186-1188)Cgc>Tgc	p.R396C	RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Missense_Mutation_p.R357C|RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	396					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		CAACAAGCTCCGCGTGAAGAT	0.567											OREG0014093	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(19;39 479 7473 13131 19462)	.											0													88.0	77.0	81.0					1																	201969125		2203	4300	6503	SO:0001583	missense	6051			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1186C>T	1.37:g.201969125C>T	ENSP00000295640:p.Arg396Cys	Somatic	2125	WXS	Illumina HiSeq	Phase_I	Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	ENST00000295640.4	37	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615601	0.46631	.	.	ENSG00000176393	ENST00000295640;ENST00000367286;ENST00000447312	T;T;T	0.06294	3.95;3.32;3.78	5.21	4.29	0.51040	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.64402	D	0.000004	T	0.15305	0.0369	L	0.45698	1.435	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.00719	-1.1595	10	0.36615	T	0.2	-16.7858	8.8552	0.35223	0.1475:0.7705:0.0:0.0821	.	404;396	Q7RU04;Q9H4A4	.;AMPB_HUMAN	C	396;357;265	ENSP00000295640:R396C;ENSP00000356255:R357C;ENSP00000389602:R265C	ENSP00000295640:R396C	R	+	1	0	RNPEP	200235748	0.985000	0.35326	0.533000	0.28001	0.993000	0.82548	2.471000	0.45127	2.432000	0.82394	0.491000	0.48974	CGC		0.567	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216	
OBSCN	84033	broad.mit.edu	37	1	228471449	228471449	+	Missense_Mutation	SNP	C	C	T	rs376064743		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr1:228471449C>T	ENST00000422127.1	+	33	9027	c.8983C>T	c.(8983-8985)Cgg>Tgg	p.R2995W	OBSCN_ENST00000570156.2_Missense_Mutation_p.R3424W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2995W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R114W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R114W|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1842W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2995	Ig-like 29.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCCAGTCCCGGGCCCAGCT	0.647													c|||	1	0.000199681	0.0008	0.0	5008	,	,		18543	0.0		0.0	False		,,,				2504	0.0					.											0									TRP/ARG,TRP/ARG	1,4075		0,1,2037	43.0	49.0	47.0		8983,8983	5.6	1.0	1		47	0,8344		0,0,4172	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	101,101	0,1,6209	TT,TC,CC		0.0,0.0245,0.0081	probably-damaging,probably-damaging	2995/7969,2995/6621	228471449	1,12419	2038	4172	6210	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8983C>T	1.37:g.228471449C>T	ENSP00000409493:p.Arg2995Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	c	18.95	3.732170	0.69189	2.45E-4	0.0	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T;T;T	0.04917	3.53;3.53;3.53;3.53;3.53	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.315524	0.27447	N	0.019329	T	0.21761	0.0524	M	0.82323	2.585	0.24539	N	0.994075	D;D;D	0.71674	0.998;0.969;0.998	P;P;P	0.56916	0.809;0.533;0.764	T	0.10042	-1.0647	10	0.72032	D	0.01	.	12.695	0.56999	0.2754:0.7246:0.0:0.0	.	2995;2995;2995	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	W	2995;2995;114;114;1842;694;401	ENSP00000284548:R2995W;ENSP00000409493:R2995W;ENSP00000355668:R114W;ENSP00000355670:R114W;ENSP00000352613:R1842W	ENSP00000284548:R2995W	R	+	1	2	OBSCN	226538072	1.000000	0.71417	0.972000	0.41901	0.013000	0.08279	4.607000	0.61133	2.637000	0.89404	0.550000	0.68814	CGG		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
GPR158	57512	broad.mit.edu;mdanderson.org;bcgsc.ca	37	10	25464834	25464834	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr10:25464834G>A	ENST00000376351.3	+	1	844	c.485G>A	c.(484-486)tGg>tAg	p.W162*	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	162					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCGCTGGTGTGGAGCCTTCTG	0.632																																						.											0													70.0	67.0	68.0					10																	25464834		2203	4300	6503	SO:0001587	stop_gained	57512			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.485G>A	10.37:g.25464834G>A	ENSP00000365529:p.Trp162*	Somatic		WXS	Illumina HiSeq	Phase_I	Q6QR81|Q9ULT3	Nonsense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	39	7.370902	0.98241	.	.	ENSG00000151025	ENST00000376351	.	.	.	4.82	4.82	0.62117	.	0.314786	0.25961	N	0.027193	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.5502	0.50716	0.0817:0.0:0.9183:0.0	.	.	.	.	X	162	.	ENSP00000365529:W162X	W	+	2	0	GPR158	25504840	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	3.011000	0.49567	2.510000	0.84645	0.467000	0.42956	TGG		0.632	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
SEC23IP	11196	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	121652313	121652313	+	Missense_Mutation	SNP	A	A	C			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr10:121652313A>C	ENST00000369075.3	+	1	91	c.19A>C	c.(19-21)Aac>Cac	p.N7H	SEC23IP_ENST00000543134.1_5'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	7	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GAGAAAACCTAACGGTGGCAG	0.612																																						.											0													38.0	35.0	36.0					10																	121652313		2203	4300	6503	SO:0001583	missense	11196			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.19A>C	10.37:g.121652313A>C	ENSP00000358071:p.Asn7His	Somatic		WXS	Illumina HiSeq	Phase_I	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.352138	0.61183	.	.	ENSG00000107651	ENST00000369075	D	0.97209	-4.29	5.5	5.5	0.81552	.	0.123358	0.64402	D	0.000001	D	0.97148	0.9068	M	0.63843	1.955	0.80722	D	1	D	0.64830	0.994	P	0.57371	0.819	D	0.97201	0.9864	10	0.87932	D	0	-14.952	10.3789	0.44099	0.8533:0.0:0.0:0.1466	.	7	Q9Y6Y8	S23IP_HUMAN	H	7	ENSP00000358071:N7H	ENSP00000358071:N7H	N	+	1	0	SEC23IP	121642303	0.942000	0.31987	0.943000	0.38184	0.268000	0.26511	2.234000	0.43035	2.090000	0.63153	0.460000	0.39030	AAC		0.612	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1		
PACS1	55690	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	66008957	66008957	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr11:66008957A>G	ENST00000320580.4	+	22	2522	c.2489A>G	c.(2488-2490)cAc>cGc	p.H830R	PACS1_ENST00000529757.1_Missense_Mutation_p.H366R|PACS1_ENST00000524815.1_5'UTR	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	830					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TGGCTGGGCCACCCCGGGGAG	0.617																																						.											0													47.0	35.0	39.0					11																	66008957		2200	4295	6495	SO:0001583	missense	55690			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.2489A>G	11.37:g.66008957A>G	ENSP00000316454:p.His830Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180267	0.38511	.	.	ENSG00000175115	ENST00000320580;ENST00000529757	T;T	0.40756	1.02;1.02	5.42	5.42	0.78866	.	0.318327	0.36703	N	0.002442	T	0.22282	0.0537	N	0.05078	-0.115	0.80722	D	1	B	0.25441	0.126	B	0.25614	0.062	T	0.12708	-1.0537	10	0.15066	T	0.55	-27.2436	13.2975	0.60305	1.0:0.0:0.0:0.0	.	830	Q6VY07	PACS1_HUMAN	R	830;366	ENSP00000316454:H830R;ENSP00000432858:H366R	ENSP00000316454:H830R	H	+	2	0	PACS1	65765533	0.257000	0.24022	1.000000	0.80357	0.979000	0.70002	1.621000	0.36986	2.196000	0.70406	0.533000	0.62120	CAC		0.617	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026	
AMDHD2	51005	broad.mit.edu	37	16	2570776	2570776	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr16:2570776delT	ENST00000293971.6	+	2	184	c.90delT	c.(88-90)gatfs	p.D30fs	AMDHD2_ENST00000302956.4_Frame_Shift_Del_p.D30fs|AMDHD2_ENST00000413459.3_Frame_Shift_Del_p.D30fs|ATP6C_ENST00000569317.1_Intron	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	30					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						CCAGGGAGGATCTGTGGGTGC	0.746																																						.											0													11.0	13.0	12.0					16																	2570776		2178	4266	6444	SO:0001589	frameshift_variant	51005			AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.90delT	16.37:g.2570776delT	ENSP00000293971:p.Asp30fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DL77|Q8WV54	Frame_Shift_Del	DEL	ENST00000293971.6	37																																																																																					0.746	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1	NM_015944	
AMDHD2	51005	broad.mit.edu	37	16	2570778	2570778	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr16:2570778delT	ENST00000293971.6	+	2	186	c.92delT	c.(91-93)ctgfs	p.L31fs	AMDHD2_ENST00000302956.4_Frame_Shift_Del_p.L31fs|AMDHD2_ENST00000413459.3_Frame_Shift_Del_p.L31fs|ATP6C_ENST00000569317.1_Intron	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	31					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						AGGGAGGATCTGTGGGTGCGC	0.741																																						.											0													11.0	13.0	12.0					16																	2570778		2182	4272	6454	SO:0001589	frameshift_variant	51005			AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.92delT	16.37:g.2570778delT	ENSP00000293971:p.Leu31fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DL77|Q8WV54	Frame_Shift_Del	DEL	ENST00000293971.6	37																																																																																					0.741	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1	NM_015944	
BCAR1	9564	broad.mit.edu	37	16	75263529	75263530	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr16:75263529_75263530delCT	ENST00000162330.5	-	7	2618_2619	c.2492_2493delAG	c.(2491-2493)aagfs	p.K831fs	BCAR1_ENST00000542031.2_Frame_Shift_Del_p.K829fs|BCAR1_ENST00000535626.2_Frame_Shift_Del_p.K683fs|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000538440.2_Frame_Shift_Del_p.K831fs|BCAR1_ENST00000420641.3_Frame_Shift_Del_p.K849fs|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000546196.1_Frame_Shift_Del_p.K802fs|BCAR1_ENST00000393422.2_Frame_Shift_Del_p.K849fs|BCAR1_ENST00000393420.6_Frame_Shift_Del_p.K849fs|BCAR1_ENST00000418647.3_Frame_Shift_Del_p.K877fs	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	831					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGGCAGCGGCCTTGGTGGTGGC	0.668																																						.											0																																										SO:0001589	frameshift_variant	9564			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2492_2493delAG	16.37:g.75263529_75263530delCT	ENSP00000162330:p.Lys831fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Frame_Shift_Del	DEL	ENST00000162330.5	37	CCDS10915.1																																																																																				0.668	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567	
ZNF101	94039	broad.mit.edu;mdanderson.org;bcgsc.ca	37	19	19790063	19790063	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr19:19790063T>C	ENST00000592502.1	+	4	375	c.265T>C	c.(265-267)Tgt>Cgt	p.C89R	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_5'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	89					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GATTCCTGATTGTCACCTGAA	0.443																																						.											0													93.0	84.0	87.0					19																	19790063		2203	4300	6503	SO:0001583	missense	94039			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.265T>C	19.37:g.19790063T>C	ENSP00000468049:p.Cys89Arg	Somatic		WXS	Illumina HiSeq	Phase_I	C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	T	0.221	-1.028890	0.02045	.	.	ENSG00000181896	ENST00000318110;ENST00000415440	T	0.14516	2.5	0.235	0.235	0.15431	.	.	.	.	.	T	0.05181	0.0138	N	0.08118	0	0.09310	N	0.999991	B	0.30914	0.3	B	0.22753	0.041	T	0.33954	-0.9848	9	0.51188	T	0.08	.	2.6085	0.04884	0.0:0.4385:0.0:0.5614	.	89	Q8IZC7	ZN101_HUMAN	R	89	ENSP00000319716:C89R	ENSP00000319716:C89R	C	+	1	0	ZNF101	19651063	0.000000	0.05858	0.256000	0.24389	0.257000	0.26127	-0.506000	0.06359	0.263000	0.21812	0.260000	0.18958	TGT		0.443	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204	
SLC4A5	57835	broad.mit.edu;mdanderson.org	37	2	74492256	74492256	+	Missense_Mutation	SNP	G	G	C			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr2:74492256G>C	ENST00000377634.4	-	9	936	c.537C>G	c.(535-537)gaC>gaG	p.D179E	SLC4A5_ENST00000357822.5_Missense_Mutation_p.D179E|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.D115E|SLC4A5_ENST00000394019.2_Missense_Mutation_p.D179E|SLC4A5_ENST00000359484.4_Missense_Mutation_p.D115E|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.D179E|SLC4A5_ENST00000423644.1_Missense_Mutation_p.D179E|SLC4A5_ENST00000346834.4_Missense_Mutation_p.D179E					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGAGCCACTGTCCAAATCCA	0.617																																						.											0													107.0	98.0	101.0					2																	74492256		2203	4300	6503	SO:0001583	missense	57835			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.537C>G	2.37:g.74492256G>C	ENSP00000366861:p.Asp179Glu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000377634.4	37	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	G	1.881	-0.457883	0.04508	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249;ENST00000432728	T;T;T;T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	4.79	-1.45	0.08828	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.150608	0.64402	N	0.000015	T	0.43478	0.1249	N	0.02213	-0.635	0.25440	N	0.988106	B;B;B;B;B	0.19935	0.004;0.04;0.0;0.022;0.001	B;B;B;B;B	0.28991	0.009;0.078;0.005;0.097;0.012	T	0.47947	-0.9077	10	0.02654	T	1	.	5.4722	0.16676	0.4958:0.1464:0.3579:0.0	.	179;179;115;179;179	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	E	179;179;179;115;179;115;179;179;179;179;63	ENSP00000377587:D179E;ENSP00000251768:D179E;ENSP00000352461:D115E;ENSP00000395804:D179E;ENSP00000351513:D115E;ENSP00000350475:D179E;ENSP00000366859:D179E;ENSP00000366861:D179E;ENSP00000405678:D179E;ENSP00000414162:D63E	ENSP00000251768:D179E	D	-	3	2	SLC4A5	74345764	0.050000	0.20438	0.152000	0.22495	0.983000	0.72400	-0.518000	0.06267	-0.165000	0.10908	0.591000	0.81541	GAC		0.617	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3		
WASH2P	375260	broad.mit.edu	37	2	114356198	114356198	+	RNA	SNP	G	G	A	rs200217121	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr2:114356198G>A	ENST00000538033.2	+	0	2378							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CTCTGGGAAAGGACCTGGGGC	0.622													.|||	268	0.0535144	0.0446	0.0303	5008	,	,		29876	0.0883		0.0547	False		,,,				2504	0.045					.											0																																												375260					2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114356198G>A		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000538033.2	37																																																																																					0.622	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943	
TRIP12	9320	broad.mit.edu	37	2	230650546	230650546	+	Missense_Mutation	SNP	A	A	C			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr2:230650546A>C	ENST00000283943.5	-	33	4974	c.4796T>G	c.(4795-4797)cTg>cGg	p.L1599R	TRIP12_ENST00000389044.4_Missense_Mutation_p.L1647R|TRIP12_ENST00000389045.3_Missense_Mutation_p.L1329R	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1599					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CGCCTGTTTCAGCAGCTCCTC	0.463																																						.											0													104.0	105.0	104.0					2																	230650546		2203	4300	6503	SO:0001583	missense	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4796T>G	2.37:g.230650546A>C	ENSP00000283943:p.Leu1599Arg	Somatic		WXS	Illumina HiSeq	Phase_I	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.719648	0.89205	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.51817	0.69;0.69;0.69	5.66	5.66	0.87406	HECT (2);	0.000000	0.85682	D	0.000000	T	0.68284	0.2984	M	0.72576	2.205	0.80722	D	1	D;D;D	0.71674	0.995;0.998;0.995	D;D;D	0.78314	0.986;0.991;0.986	T	0.72080	-0.4398	10	0.87932	D	0	.	15.8971	0.79344	1.0:0.0:0.0:0.0	.	1329;1647;1599	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	R	1599;1329;1647	ENSP00000283943:L1599R;ENSP00000373697:L1329R;ENSP00000373696:L1647R	ENSP00000283943:L1599R	L	-	2	0	TRIP12	230358790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.860000	0.92272	2.150000	0.67090	0.477000	0.44152	CTG		0.463	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	
NCL	4691	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	232325533	232325533	+	Missense_Mutation	SNP	T	T	C	rs375808034		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr2:232325533T>C	ENST00000322723.4	-	4	898	c.658A>G	c.(658-660)Aaa>Gaa	p.K220E	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	220					angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTTGCAGCTTTCTTTCCTTTG	0.448																																						.											0								T	GLU/LYS	1,4405	2.1+/-5.4	0,1,2202	187.0	169.0	175.0		658	4.3	1.0	2		175	0,8600		0,0,4300	no	missense	NCL	NM_005381.2	56	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	220/711	232325533	1,13005	2203	4300	6503	SO:0001583	missense	4691				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.658A>G	2.37:g.232325533T>C	ENSP00000318195:p.Lys220Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.263223	0.59431	2.27E-4	0.0	ENSG00000115053	ENST00000322723	T	0.40476	1.03	5.46	4.29	0.51040	.	0.232532	0.49916	D	0.000131	T	0.40171	0.1106	M	0.66939	2.045	0.42701	D	0.993619	B	0.29212	0.237	B	0.27887	0.084	T	0.40757	-0.9546	10	0.46703	T	0.11	-14.5577	10.8196	0.46597	0.0:0.0754:0.0:0.9246	.	220	P19338	NUCL_HUMAN	E	220	ENSP00000318195:K220E	ENSP00000318195:K220E	K	-	1	0	NCL	232033777	1.000000	0.71417	0.990000	0.47175	0.908000	0.53690	2.623000	0.46435	2.078000	0.62432	0.524000	0.50904	AAA		0.448	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381	
MYH7B	57644	broad.mit.edu;bcgsc.ca	37	20	33577581	33577581	+	Missense_Mutation	SNP	G	G	A			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr20:33577581G>A	ENST00000262873.7	+	18	1844	c.1752G>A	c.(1750-1752)atG>atA	p.M584I	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	542	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGGAATGCATGTTCCCCAAGG	0.587																																						.											0													56.0	61.0	59.0					20																	33577581		2200	4300	6500	SO:0001583	missense	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1752G>A	20.37:g.33577581G>A	ENSP00000262873:p.Met584Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994859	0.93167	.	.	ENSG00000078814	ENST00000262873	T	0.71341	-0.56	4.5	4.5	0.54988	Myosin head, motor domain (2);	0.000000	0.45867	D	0.000321	T	0.81351	0.4804	L	0.54863	1.705	0.58432	D	0.999999	D	0.53885	0.963	D	0.76575	0.988	T	0.81892	-0.0724	10	0.51188	T	0.08	.	17.7562	0.88450	0.0:0.0:1.0:0.0	.	542	A7E2Y1	MYH7B_HUMAN	I	584	ENSP00000262873:M584I	ENSP00000262873:M584I	M	+	3	0	MYH7B	33041242	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.657000	0.98554	2.503000	0.84419	0.561000	0.74099	ATG		0.587	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884	
OSER1	51526	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	42825743	42825743	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr20:42825743G>C	ENST00000372970.2	-	6	1008	c.828C>G	c.(826-828)taC>taG	p.Y276*	OSER1_ENST00000255174.2_Nonsense_Mutation_p.Y276*			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	276					cellular response to hydrogen peroxide (GO:0070301)												GAATATACAAGTAATACTCCA	0.448																																						.											0													106.0	104.0	105.0					20																	42825743		2203	4300	6503	SO:0001587	stop_gained	51526			AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"""peroxide-inducible transcript 1"", ""oxidative stress-responsive 1"""		"""chromosome 20 open reading frame 111"""	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.828C>G	20.37:g.42825743G>C	ENSP00000362061:p.Tyr276*	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCK4|O95912|Q9NZ84|Q9P0R8	Nonsense_Mutation	SNP	ENST00000372970.2	37	CCDS13327.1	.	.	.	.	.	.	.	.	.	.	G	36	5.646283	0.96704	.	.	ENSG00000132823	ENST00000255174;ENST00000372970	.	.	.	6.03	4.08	0.47627	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.52099	D	0.999946	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4897	12.2023	0.54333	0.1364:0.0:0.8636:0.0	.	.	.	.	X	276	.	ENSP00000255174:Y276X	Y	-	3	2	C20orf111	42259157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.336000	0.43938	1.547000	0.49401	0.655000	0.94253	TAC		0.448	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470	
OTOL1	131149	broad.mit.edu	37	3	161220991	161220991	+	Missense_Mutation	SNP	T	T	G			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr3:161220991T>G	ENST00000327928.4	+	4	695	c.695T>G	c.(694-696)aTg>aGg	p.M232R		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	232	Collagen-like 2.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						aagggggagatgggggagaag	0.577																																						.											0													4.0	4.0	4.0					3																	161220991		1609	3660	5269	SO:0001583	missense	131149				CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.695T>G	3.37:g.161220991T>G	ENSP00000330808:p.Met232Arg	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000327928.4	37	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	t	2.467	-0.322756	0.05350	.	.	ENSG00000182447	ENST00000327928	D	0.93133	-3.17	.	.	.	.	.	.	.	.	T	0.77698	0.4169	N	0.02286	-0.61	0.19300	N	0.999973	.	.	.	.	.	.	T	0.67325	-0.5699	5	0.16896	T	0.51	.	.	.	.	.	232	A6NHN0	OTOL1_HUMAN	R	232	ENSP00000330808:M232R	ENSP00000330808:M232R	M	+	2	0	OTOL1	162703685	0.987000	0.35691	0.850000	0.33497	0.539000	0.34962	0.065000	0.14466	0.000000	0.14550	0.000000	0.15137	ATG		0.577	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440	
CAMK2N2	94032	broad.mit.edu	37	3	183977958	183977959	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr3:183977958_183977959delGG	ENST00000296238.3	-	2	403_404	c.226_227delCC	c.(226-228)ccgfs	p.P76fs	ECE2_ENST00000402825.3_Intron|EIF2B5_ENST00000444495.1_Intron	NM_033259.2	NP_150284.1	Q96S95	CK2N2_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 2	76						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein kinase inhibitor activity (GO:0008427)					all_cancers(143;1.09e-10)|Ovarian(172;0.0339)		Epithelial(37;2.51e-33)|OV - Ovarian serous cystadenocarcinoma(80;5.69e-22)			CACTCCGGACGGCGGCTTCTCC	0.767																																						.											0																																										SO:0001589	frameshift_variant	94032			AY037149	CCDS3257.1	3q27.1	2006-03-27			ENSG00000163888	ENSG00000163888			24197	protein-coding gene	gene with protein product		608721				11444830, 9724800	Standard	NM_033259		Approved	CaM-KIIN	uc003fnj.1	Q96S95	OTTHUMG00000156821	ENST00000296238.3:c.226_227delCC	3.37:g.183977958_183977959delGG	ENSP00000296238:p.Pro76fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000296238.3	37	CCDS3257.1																																																																																				0.767	CAMK2N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346010.1	NM_033259	
ZSWIM6	57688	broad.mit.edu	37	5	60822215	60822215	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr5:60822215delA	ENST00000252744.5	+	7	1829	c.1829delA	c.(1828-1830)caafs	p.Q610fs		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	610					neuron projection morphogenesis (GO:0048812)|regulation of neuron migration (GO:2001222)		zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						TTCCGAACCCAAAAAAAAGGT	0.408																																						.											0													144.0	131.0	135.0					5																	60822215		692	1591	2283	SO:0001589	frameshift_variant	57688			BC039438	CCDS47215.1	5q12.1	2011-03-17			ENSG00000130449	ENSG00000130449		"""Zinc fingers, SWIM-type"""	29316	protein-coding gene	gene with protein product		615951				10997877, 16427614	Standard	NM_020928		Approved	KIAA1577	uc003jsr.3	Q9HCJ5	OTTHUMG00000162388	ENST00000252744.5:c.1829delA	5.37:g.60822215delA	ENSP00000252744:p.Gln610fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000252744.5	37	CCDS47215.1																																																																																				0.408	ZSWIM6-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368710.1	NM_020928	
ADAMTS2	9509	broad.mit.edu	37	5	178634608	178634608	+	Missense_Mutation	SNP	T	T	A			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr5:178634608T>A	ENST00000251582.7	-	4	898	c.797A>T	c.(796-798)tAc>tTc	p.Y266F	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.Y266F	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	266	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTCGATGTTGTAGTCATCGTC	0.612																																						.											0													180.0	148.0	159.0					5																	178634608		2203	4300	6503	SO:0001583	missense	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.797A>T	5.37:g.178634608T>A	ENSP00000251582:p.Tyr266Phe	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.376184	0.42105	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	D;D	0.86497	-2.13;-2.13	5.58	5.58	0.84498	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.293675	0.24341	N	0.039367	T	0.80287	0.4595	L	0.27053	0.805	0.46874	D	0.999233	B;B	0.17268	0.021;0.018	B;B	0.18263	0.013;0.021	T	0.74699	-0.3577	10	0.25751	T	0.34	.	14.9253	0.70871	0.0:0.0:0.0:1.0	.	266;266	O95450-2;O95450	.;ATS2_HUMAN	F	266	ENSP00000251582:Y266F;ENSP00000274609:Y266F	ENSP00000251582:Y266F	Y	-	2	0	ADAMTS2	178567214	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.808000	0.86044	2.126000	0.65437	0.459000	0.35465	TAC		0.612	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244	
CDK13	8621	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	40132819	40132819	+	Missense_Mutation	SNP	C	C	G			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr7:40132819C>G	ENST00000181839.4	+	13	4276	c.3671C>G	c.(3670-3672)cCt>cGt	p.P1224R	CDK13_ENST00000340829.5_Missense_Mutation_p.P1164R	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1224					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CCTCCAGAACCTAGCACTCCG	0.453																																						.											0													56.0	48.0	51.0					7																	40132819		2203	4299	6502	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3671C>G	7.37:g.40132819C>G	ENSP00000181839:p.Pro1224Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277727	0.80692	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.56444	0.46;0.46	5.68	5.68	0.88126	.	.	.	.	.	T	0.69975	0.3171	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.65212	-0.6223	8	.	.	.	-11.1096	20.1615	0.98135	0.0:1.0:0.0:0.0	.	1164;1224	Q14004-2;Q14004	.;CDK13_HUMAN	R	1224;1164	ENSP00000181839:P1224R;ENSP00000340557:P1164R	.	P	+	2	0	CDK13	40099344	1.000000	0.71417	0.991000	0.47740	0.666000	0.39218	4.707000	0.61852	2.835000	0.97688	0.650000	0.86243	CCT		0.453	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718	
RBM14	10432	broad.mit.edu	37	11	66384364	66384365	+	Frame_Shift_Ins	INS	-	-	T	rs543247447		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr11:66384364_66384365insT	ENST00000310137.4	+	1	312_313	c.173_174insT	c.(172-177)cacgagfs	p.E59fs	RBM14_ENST00000409372.1_Frame_Shift_Ins_p.E59fs|RBM4_ENST00000503028.2_5'UTR|RBM14-RBM4_ENST00000511114.1_3'UTR|RBM4_ENST00000514361.3_Frame_Shift_Ins_p.E59fs|RBM14_ENST00000443702.1_Frame_Shift_Ins_p.E59fs|RBM14_ENST00000393979.3_Frame_Shift_Ins_p.E59fs|RBM14_ENST00000409738.4_Frame_Shift_Ins_p.E59fs|RBM14-RBM4_ENST00000412278.2_Frame_Shift_Ins_p.E59fs|RNU4-39P_ENST00000362455.1_RNA|RBM14-RBM4_ENST00000500635.2_Frame_Shift_Ins_p.E59fs	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	59	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CTGCACGGCCACGAGCTGCGGC	0.644																																						.											0																																										SO:0001589	frameshift_variant	100526737			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	Exception_encountered	11.37:g.66384364_66384365insT	ENSP00000311747:p.Glu59fs	Somatic		WXS	Illumina HiSeq	Phase_I	B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Frame_Shift_Ins	INS	ENST00000310137.4	37	CCDS8147.1																																																																																				0.644	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328	
BCAR1	9564	broad.mit.edu	37	16	75263533	75263534	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr16:75263533_75263534insT	ENST00000162330.5	-	7	2614_2615	c.2488_2489insA	c.(2488-2490)accfs	p.T830fs	BCAR1_ENST00000542031.2_Frame_Shift_Ins_p.T828fs|BCAR1_ENST00000535626.2_Frame_Shift_Ins_p.T682fs|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000538440.2_Frame_Shift_Ins_p.T830fs|BCAR1_ENST00000420641.3_Frame_Shift_Ins_p.T848fs|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000546196.1_Frame_Shift_Ins_p.T801fs|BCAR1_ENST00000393422.2_Frame_Shift_Ins_p.T848fs|BCAR1_ENST00000393420.6_Frame_Shift_Ins_p.T848fs|BCAR1_ENST00000418647.3_Frame_Shift_Ins_p.T876fs	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	830					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCGGCCTTGGTGGTGGCCACG	0.673																																						.											0																																										SO:0001589	frameshift_variant	9564			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2489dupA	16.37:g.75263534_75263534dupT	ENSP00000162330:p.Thr830fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Frame_Shift_Ins	INS	ENST00000162330.5	37	CCDS10915.1																																																																																				0.673	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567	
CCDC144CP	348254	broad.mit.edu	37	17	18454926	18454927	+	IGR	INS	-	-	C	rs201304632	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr17:18454926_18454927insC								CTD-2303H24.2 (9692 upstream) : CCDC144B (36665 downstream)																							GCAAGGTGACTTAGGACTGGCC	0.426													C|-|C|deletion	91	0.0181709	0.0651	0.0058	5008	,	,		12679	0.0		0.001	False		,,,				2504	0.0					.											0																																										SO:0001628	intergenic_variant	284047																															17.37:g.18454926_18454927insC		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	INS		37																																																																																				0	0.426								
LMNB2	84823	broad.mit.edu	37	19	2434856	2434857	+	Frame_Shift_Ins	INS	-	-	A	rs140495297|rs567796688		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr19:2434856_2434857insA	ENST00000582871.1	-	6	936_937	c.850_851insT	c.(850-852)cgcfs	p.R284fs	LMNB2_ENST00000325327.3_Frame_Shift_Ins_p.R304fs	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	284	Coil 2.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCTCCTCGCGAGCCGCACTG	0.708																																						.											0																																										SO:0001589	frameshift_variant	84823			M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.850_851insT	19.37:g.2434856_2434857insA	ENSP00000462730:p.Arg284fs	Somatic		WXS	Illumina HiSeq	Phase_I	O75292|Q14734|Q96DF6	Frame_Shift_Ins	INS	ENST00000582871.1	37																																																																																					0.708	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737	
GIPC1	10755	broad.mit.edu	37	19	14593617	14593618	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr19:14593617_14593618insA	ENST00000393033.4	-	4	440_441	c.171_172insT	c.(169-174)cgcctcfs	p.L58fs	GIPC1_ENST00000345425.2_Frame_Shift_Ins_p.L58fs|GIPC1_ENST00000393029.3_Intron|GIPC1_ENST00000591349.1_Intron|GIPC1_ENST00000393028.1_Intron|GIPC1_ENST00000586027.1_Frame_Shift_Ins_p.L58fs	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	58					endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TGGAACACGAGGCGGGGCCGCA	0.718																																					Pancreas(33;78 923 2910 41023 52850)	.											0																																										SO:0001589	frameshift_variant	10755			AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"""chromosome 19 open reading frame 3"", ""regulator of G-protein signalling 19 interacting protein 1"""	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.171_172insT	19.37:g.14593617_14593618insA	ENSP00000376753:p.Leu58fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4I3|A8MZG3|Q9BTC9	Frame_Shift_Ins	INS	ENST00000393033.4	37	CCDS12310.1																																																																																				0.718	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2		
WWC3	55841	broad.mit.edu	37	X	10085451	10085452	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chrX:10085451_10085452insA	ENST00000380861.4	+	11	1743_1744	c.1352_1353insA	c.(1351-1356)tcgctgfs	p.L452fs	WWC3_ENST00000454666.1_Frame_Shift_Ins_p.L452fs	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	452	Ser-rich.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TCCCTGGCATCGCTGTCCTCCC	0.698																																						.											0																																										SO:0001589	frameshift_variant	55841			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	Exception_encountered	X.37:g.10085451_10085452insA	ENSP00000370242:p.Leu452fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8KA96|Q659C1|Q9BTQ1	Frame_Shift_Ins	INS	ENST00000380861.4	37	CCDS14136.1																																																																																				0.698	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	
CYP1A2	1544	ucsc.edu	37	15	75047426	75047426	+	Silent	SNP	C	C	T	rs2470890	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr15:75047426C>T	ENST00000343932.4	+	7	1611	c.1548C>T	c.(1546-1548)aaC>aaT	p.N516N		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	515					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	TCTCCATCAACTGAAGAAGAC	0.577													C|||	1183	0.236222	0.028	0.3271	5008	,	,		14798	0.1637		0.5964	False		,,,				2504	0.1575					.											0								C		547,3847	238.0+/-249.6	40,467,1690	30.0	28.0	28.0		1548	0.6	0.3	15	dbSNP_100	28	5619,2973	631.2+/-398.5	1863,1893,540	no	coding-synonymous	CYP1A2	NM_000761.3		1903,2360,2230	TT,TC,CC		34.602,12.4488,47.4819		516/517	75047426	6166,6820	2197	4296	6493	SO:0001819	synonymous_variant	1544			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1548C>T	15.37:g.75047426C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	ENST00000343932.4	37	CCDS32293.1																																																																																				0.577	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761	
ABCE1	6059	mdanderson.org;bcgsc.ca	37	4	146044692	146044692	+	Missense_Mutation	SNP	A	A	G			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr4:146044692A>G	ENST00000296577.4	+	16	2095	c.1580A>G	c.(1579-1581)tAt>tGt	p.Y527C	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	527	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					ATGGCCACCTATCTAGCGGAT	0.338																																						.											0													71.0	67.0	68.0					4																	146044692		2203	4297	6500	SO:0001583	missense	6059			X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.1580A>G	4.37:g.146044692A>G	ENSP00000296577:p.Tyr527Cys	Somatic		WXS	Illumina HiSeq	Phase_I	O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	ENST00000296577.4	37	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.553083	0.86127	.	.	ENSG00000164163	ENST00000296577	D	0.85013	-1.93	5.69	5.69	0.88448	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.90034	0.6888	L	0.48218	1.51	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91002	0.4843	10	0.87932	D	0	-16.4189	16.2484	0.82467	1.0:0.0:0.0:0.0	.	527	P61221	ABCE1_HUMAN	C	527	ENSP00000296577:Y527C	ENSP00000296577:Y527C	Y	+	2	0	ABCE1	146264142	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.201000	0.95017	2.291000	0.77112	0.533000	0.62120	TAT		0.338	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940	
ADAM19	8728	mdanderson.org	37	5	156997987	156997987	+	Splice_Site	SNP	T	T	C	rs200503236	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr5:156997987T>C	ENST00000517905.1	-	2	140	c.96A>G	c.(94-96)agA>agG	p.R32R	ADAM19_ENST00000430702.2_5'UTR|AC106801.1_ENST00000518054.1_RNA|ADAM19_ENST00000257527.4_Splice_Site_p.R32R|ADAM19_ENST00000394020.1_Splice_Site_p.R34R			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	32				R -> SK (in Ref. 1; AAG50282). {ECO:0000305}.	heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTCACTTCCTCCTGCCAATA	0.498																																						.											0													78.0	78.0	78.0					5																	156997987		2203	4300	6503	SO:0001630	splice_region_variant	8728			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.95-1A>G	5.37:g.156997987T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q9BZL5|Q9UHP2	Silent	SNP	ENST00000517905.1	37																																																																																					0.498	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274	Silent
APOL5	80831	mdanderson.org	37	22	36122931	36122931	+	Silent	SNP	G	G	A	rs370593513		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr22:36122931G>A	ENST00000249044.2	+	3	816	c.816G>A	c.(814-816)acG>acA	p.T272T		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	272			T -> M (in dbSNP:rs2076671).		lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CTTTCTGGACGGCTAGAGGGG	0.527													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18487	0.0		0.0	False		,,,				2504	0.0					.											0								G		3,4403	4.2+/-10.8	0,3,2200	138.0	145.0	143.0		816	-4.8	0.0	22		143	0,8600		0,0,4300	no	coding-synonymous	APOL5	NM_030642.1		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		272/434	36122931	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	80831			AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.816G>A	22.37:g.36122931G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5TFL9|Q9UGW5	Silent	SNP	ENST00000249044.2	37	CCDS13920.1																																																																																				0.527	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642	
CEACAM5	1048	mdanderson.org	37	19	42213772	42213772	+	Missense_Mutation	SNP	A	A	G	rs12971352	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr19:42213772A>G	ENST00000221992.6	+	2	352	c.238A>G	c.(238-240)Ata>Gta	p.I80V	CEACAM7_ENST00000599715.1_5'Flank|CEACAM5_ENST00000398599.4_Missense_Mutation_p.I80V|CEA_ENST00000598976.1_Missense_Mutation_p.I80V|CEACAM5_ENST00000405816.1_Missense_Mutation_p.I80V	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	80	Ig-like 1.		I -> V (in dbSNP:rs12971352).		homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCGTCAAATTATAGGATATGT	0.478													a|||	818	0.163339	0.3986	0.1037	5008	,	,		18246	0.0		0.1958	False		,,,				2504	0.0225					.											0								A	VAL/ILE	1325,3081		310,705,1188	154.0	163.0	160.0		238	-1.3	0.0	19	dbSNP_121	160	1069,7531		115,839,3346	no	missense	CEACAM5	NM_004363.2	29	425,1544,4534	GG,GA,AA		12.4302,30.0726,18.4069	benign	80/703	42213772	2394,10612	2203	4300	6503	SO:0001583	missense	1048			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.238A>G	19.37:g.42213772A>G	ENSP00000221992:p.Ile80Val	Somatic		WXS	Illumina HiSeq	Phase_I	H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	CCDS12584.1	303|303	0.13873626373626374|0.13873626373626374	131|131	0.266260162601626|0.266260162601626	40|40	0.11049723756906077|0.11049723756906077	0|0	0.0|0.0	132|132	0.1741424802110818|0.1741424802110818	-|-	0.004|0.004	-2.303796|-2.303796	0.00240|0.00240	0.300726|0.300726	0.124302|0.124302	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181|ENST00000398599	T;T|.	0.66099|.	-0.19;-0.19|.	2.56|2.56	-1.31|-1.31	0.09230|0.09230	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.11724|0.11724	0.165|0.165	0.80722|0.80722	P|P	0.0|0.0	B;B;B|.	0.12013|.	0.005;0.0;0.0|.	B;B;B|.	0.26517|.	0.07;0.005;0.016|.	T|T	0.44697|0.44697	-0.9311|-0.9311	8|4	0.05721|.	T|.	0.95|.	.|.	4.8298|4.8298	0.13434|0.13434	0.1374:0.4321:0.4306:0.0|0.1374:0.4321:0.4306:0.0	rs12971352|rs12971352	80;80;80|.	Q8N4D0;P06731;Q53G30|.	.;CEAM5_HUMAN;.|.	V|C	80|76	ENSP00000221992:I80V;ENSP00000385072:I80V|.	ENSP00000221992:I80V|.	I|Y	+|+	1|2	0|0	CEACAM5|CEACAM5	46905612|46905612	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.000000|0.000000	0.00434|0.00434	-0.284000|-0.284000	0.08422|0.08422	-0.113000|-0.113000	0.11958|0.11958	-2.226000|-2.226000	0.00293|0.00293	ATA|TAT		0.478	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363	
FAM21A	387680	mdanderson.org	37	10	51859751	51859751	+	Missense_Mutation	SNP	C	C	A	rs201610656	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr10:51859751C>A	ENST00000282633.5	+	17	1607	c.1562C>A	c.(1561-1563)tCc>tAc	p.S521Y	FAM21A_ENST00000399339.2_Missense_Mutation_p.S433Y|FAM21A_ENST00000314664.7_Missense_Mutation_p.S521Y|FAM21A_ENST00000351071.6_Missense_Mutation_p.S521Y	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	521					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						ACCTTATCTTCCAGCAAAAAT	0.423																																						.											0													2.0	2.0	2.0					10																	51859751		1300	2814	4114	SO:0001583	missense	55747			BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"""family with sequence similarity 21, member B"""	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.1562C>A	10.37:g.51859751C>A	ENSP00000282633:p.Ser521Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A2A3S2|A2A3U6|Q6DHY0	Missense_Mutation	SNP	ENST00000282633.5	37	CCDS41527.1	.	.	.	.	.	.	.	.	.	.	c	4.405	0.074822	0.08485	.	.	ENSG00000099290	ENST00000351071;ENST00000314664;ENST00000434114;ENST00000282633;ENST00000399339	.	.	.	4.32	4.32	0.51571	.	0.662706	0.15995	N	0.234623	T	0.57932	0.2087	M	0.67953	2.075	0.42549	P	0.00689799999999996	B;B;P;B;B	0.50528	0.001;0.001;0.936;0.005;0.001	B;B;P;B;B	0.48227	0.004;0.003;0.571;0.02;0.003	T	0.71258	-0.4646	8	0.51188	T	0.08	0.2567	12.3647	0.55222	0.0:1.0:0.0:0.0	.	521;521;433;521;415	E7ESD2;Q641Q2-2;F8W7U3;Q641Q2;Q5T1D7	.;.;.;FA21A_HUMAN;.	Y	521;521;415;521;433	.	ENSP00000282633:S521Y	S	+	2	0	FAM21A	51529757	0.619000	0.27059	0.196000	0.23383	0.208000	0.24298	3.741000	0.55090	1.945000	0.56424	0.184000	0.17185	TCC		0.423	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276917.2	NM_001005751	
FER	2241	mdanderson.org	37	5	108133967	108133967	+	Silent	SNP	A	A	G	rs2229085	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr5:108133967A>G	ENST00000281092.4	+	3	468	c.84A>G	c.(82-84)gtA>gtG	p.V28V	FER_ENST00000438717.2_5'UTR|FER_ENST00000536402.1_Silent_p.V28V|FER_ENST00000502752.1_3'UTR	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	28	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TGGAAACAGTAAAGAAATTTA	0.363													A|||	891	0.177915	0.2988	0.17	5008	,	,		17170	0.0575		0.167	False		,,,				2504	0.1554				Colon(146;1051 1799 9836 27344 47401)	.											0								A		1242,3162	427.0+/-341.4	179,884,1139	87.0	90.0	89.0		84	1.1	1.0	5	dbSNP_98	89	1534,7066	288.9+/-299.0	135,1264,2901	no	coding-synonymous	FER	NM_005246.2		314,2148,4040	GG,GA,AA		17.8372,28.2016,21.3473		28/823	108133967	2776,10228	2202	4300	6502	SO:0001819	synonymous_variant	2241			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.84A>G	5.37:g.108133967A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2RCR4|B4DSQ2|H2FLB8	Silent	SNP	ENST00000281092.4	37	CCDS4098.1																																																																																				0.363	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246	
FRG1B	284802	mdanderson.org	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						.											2	Substitution - Missense(2)	urinary_tract(2)																																								SO:0001583	missense	284802					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser	Somatic		WXS	Illumina HiSeq	Phase_I	C4AME5	RNA	SNP	ENST00000278882.3	37		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
GSTM5	2949	mdanderson.org	37	1	110257831	110257831	+	Missense_Mutation	SNP	T	T	C	rs2227963	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr1:110257831T>C	ENST00000256593.3	+	7	594	c.536T>C	c.(535-537)cTa>cCa	p.L179P	GSTM5_ENST00000369812.5_Missense_Mutation_p.L198P|GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369813.1_Missense_Mutation_p.L138P	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	179	GST C-terminal.		L -> P (in dbSNP:rs2227963).		glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)	p.L179P(4)		NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GACGCCTTCCTAAACTTGAAG	0.478													T|||	703	0.140375	0.3941	0.0663	5008	,	,		19912	0.001		0.0845	False		,,,				2504	0.0511					.											4	Substitution - Missense(4)	central_nervous_system(3)|skin(1)						T	PRO/LEU	1097,3309		276,545,1382	189.0	205.0	199.0		536	3.1	0.7	1	dbSNP_98	199	399,8201		16,367,3917	yes	missense	GSTM5	NM_000851.3	98	292,912,5299	CC,CT,TT		4.6395,24.8979,11.5024	benign	179/219	110257831	1496,11510	2203	4300	6503	SO:0001583	missense	2949			L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4637	protein-coding gene	gene with protein product		138385	"""glutathione S-transferase M5"""			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.536T>C	1.37:g.110257831T>C	ENSP00000256593:p.Leu179Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A8K0V8|Q6PD78	Missense_Mutation	SNP	ENST00000256593.3	37	CCDS811.1	295	0.13507326007326007	204	0.4146341463414634	26	0.0718232044198895	0	0.0	65	0.08575197889182058	t	0.004	-2.358658	0.00214	0.248979	0.046395	ENSG00000134201	ENST00000256593;ENST00000369813;ENST00000369812	T;T;T	0.00691	5.84;5.84;5.84	5.02	3.11	0.35812	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.335277	0.25598	N	0.029571	T	0.00039	0.0001	N	0.00005	-3.3	0.27811	P	0.9421374	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.07673	-1.0760	9	0.02654	T	1	.	6.4549	0.21924	0.317:0.597:0.0:0.0859	rs2227963;rs61309452	138;179	Q5T8Q9;P46439	.;GSTM5_HUMAN	P	179;138;198	ENSP00000256593:L179P;ENSP00000358828:L138P;ENSP00000358827:L198P	ENSP00000256593:L179P	L	+	2	0	GSTM5	110059354	0.997000	0.39634	0.702000	0.30337	0.065000	0.16274	3.314000	0.51943	0.584000	0.29591	-0.206000	0.12725	CTA		0.478	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1	NM_000851	
GSTM5	2949	mdanderson.org	37	1	110257835	110257836	+	Silent	DNP	CT	CT	TC	rs386634508|rs67757008|rs78183574|rs61744262	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr1:110257835_110257836CT>TC	ENST00000256593.3	+	7	598_599	c.540_541CT>TC	c.(538-543)aaCTtg>aaTCtg	p.180_181NL>NL	GSTM5_ENST00000369812.5_Silent_p.199_200NL>NL|GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369813.1_Silent_p.139_140NL>NL	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	180	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CCTTCCTAAACTTGAAGGACTT	0.48																																						.											0																																										SO:0001819	synonymous_variant	2949			L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4637	protein-coding gene	gene with protein product		138385	"""glutathione S-transferase M5"""			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	Exception_encountered	1.37:g.110257835_110257836delinsTC		Somatic		WXS	Illumina HiSeq	Phase_I	A8K0V8|Q6PD78	Silent	DNP	ENST00000256593.3	37	CCDS811.1																																																																																				0.480	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1	NM_000851	
HLA-DRB5	3127	mdanderson.org	37	6	32487353	32487353	+	Missense_Mutation	SNP	T	T	C	rs114293611	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr6:32487353T>C	ENST00000374975.3	-	3	508	c.446A>G	c.(445-447)aAt>aGt	p.N149S		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5									p.N149S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						ATAGAAACCATTCACAGAGCA	0.537													T|||	2089	0.417133	0.559	0.415	5008	,	,		9822	0.3304		0.4414	False		,,,				2504	0.2914					.											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						T	SER/ASN	1237,2619		353,531,1044	42.0	53.0	49.0		446	-9.4	0.0	6	dbSNP_132	49	2078,6142		542,994,2574	no	missense	HLA-DRB5	NM_002125.3	46	895,1525,3618	CC,CT,TT		25.2798,32.0799,27.4511	benign	149/267	32487353	3315,8761	1928	4110	6038	SO:0001583	missense	3127				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.446A>G	6.37:g.32487353T>C	ENSP00000364114:p.Asn149Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	1029	0.47115384615384615	246	0.5	177	0.4889502762430939	256	0.44755244755244755	350	0.46174142480211083	.	0.054	-1.240602	0.01493	0.320799	0.252798	ENSG00000198502	ENST00000374975	T	0.02606	4.23	4.69	-9.39	0.00619	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.532611	0.22458	N	0.059800	T	0.00210	0.0006	N	0.01242	-0.935	0.80722	P	0.0	B;B	0.10296	0.0;0.003	B;B	0.13407	0.009;0.005	T	0.39643	-0.9604	9	0.12766	T	0.61	.	3.7772	0.08665	0.0982:0.418:0.1992:0.2846	.	76;149	Q29973;Q30154	.;DRB5_HUMAN	S	149	ENSP00000364114:N149S	ENSP00000364114:N149S	N	-	2	0	HLA-DRB5	32595331	0.000000	0.05858	0.004000	0.12327	0.270000	0.26580	-1.167000	0.03126	-1.562000	0.01682	-1.365000	0.01206	AAT		0.537	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125	
NLGN4X	57502	mdanderson.org;bcgsc.ca	37	X	6069116	6069116	+	Missense_Mutation	SNP	T	T	C	rs145307351		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chrX:6069116T>C	ENST00000381095.3	-	2	1019	c.392A>G	c.(391-393)aAt>aGt	p.N131S	NLGN4X_ENST00000381093.2_Missense_Mutation_p.N131S|NLGN4X_ENST00000538097.1_Missense_Mutation_p.N131S|NLGN4X_ENST00000381092.1_Missense_Mutation_p.N131S|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000275857.6_Missense_Mutation_p.N131S	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	131					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGTATCCAAATTGGCGGTAAA	0.468																																						.											0								T	SER/ASN,SER/ASN	0,3835		0,0,0,1632,571	157.0	133.0	141.0		392,392	4.1	0.2	X	dbSNP_134	141	5,6723		0,4,1,2424,1871	yes	missense,missense	NLGN4X	NM_020742.2,NM_181332.1	46,46	0,4,1,4056,2442	CC,CT,C,TT,T		0.0743,0.0,0.0473	benign,benign	131/817,131/817	6069116	5,10558	2203	4300	6503	SO:0001583	missense	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.392A>G	X.37:g.6069116T>C	ENSP00000370485:p.Asn131Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326202	0.24080	0.0	7.43E-4	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	4.08	4.08	0.47627	Carboxylesterase, type B (1);	.	.	.	.	T	0.58680	0.2139	L	0.48935	1.535	0.58432	D	0.999998	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.56920	-0.7899	9	0.46703	T	0.11	.	11.7027	0.51579	0.0:0.0:0.0:1.0	.	131;131	Q8N0W4;Q8N0W4-2	NLGNX_HUMAN;.	S	131	ENSP00000370485:N131S;ENSP00000370483:N131S;ENSP00000275857:N131S;ENSP00000370482:N131S;ENSP00000439203:N131S	ENSP00000275857:N131S	N	-	2	0	NLGN4X	6079116	1.000000	0.71417	0.208000	0.23602	0.214000	0.24535	6.568000	0.73987	1.338000	0.45544	0.481000	0.45027	AAT		0.468	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742	
SATL1	340562	mdanderson.org	37	X	84363716	84363716	+	5'UTR	SNP	G	G	C	rs141330942		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chrX:84363716G>C	ENST00000395409.3	-	0	258				SATL1_ENST00000332921.5_5'UTR|SATL1_ENST00000509231.1_Missense_Mutation_p.P87A			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1								N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						AGCATGCCTGGTTGGCTCCTA	0.527											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-|||	6	0.0015894	0.0	0.0029	3775	,	,		17578	0.0		0.002	False		,,,				2504	0.002					.											0									ALA/PRO	0,1209		0,0,0,517,175	415.0	264.0	310.0		259	-5.0	0.0	X	dbSNP_134	310	17,2374		0,12,5,788,786	yes	missense	SATL1	NM_001012980.2	27	0,12,5,1305,961	CC,CG,C,GG,G		0.711,0.0,0.4722	possibly-damaging	87/633	84363716	17,3583	692	1591	2283	SO:0001623	5_prime_UTR_variant	340562			BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.-303C>G	X.37:g.84363716G>C		Somatic	1228	WXS	Illumina HiSeq	Phase_I	A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	ENST00000395409.3	37		1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	-	3.720	-0.057793	0.07317	0.0	0.00711	ENSG00000184788	ENST00000509231	T	0.39592	1.07	2.81	-5.03	0.02973	.	.	.	.	.	T	0.16128	0.0388	L	0.43152	1.355	0.20403	N	0.999904	P	0.40332	0.713	B	0.33339	0.162	T	0.11717	-1.0576	8	.	.	.	.	1.0108	0.01497	0.3:0.1614:0.3765:0.1621	.	87	E9PB72	.	A	87	ENSP00000425421:P87A	.	P	-	1	0	SATL1	84250372	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.952000	0.29149	-0.781000	0.04548	0.431000	0.28591	CCA		0.527	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339	
TREML2	79865	mdanderson.org	37	6	41165977	41165977	+	Silent	SNP	A	A	G	rs41273770	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr6:41165977A>G	ENST00000483722.1	-	2	431	c.246T>C	c.(244-246)gaT>gaC	p.D82D		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	82	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGCCTGGGCATCGTCCTGCA	0.592													A|||	90	0.0179712	0.0008	0.0389	5008	,	,		22599	0.001		0.0318	False		,,,				2504	0.0297					.											0								A		31,4375		0,31,2172	132.0	116.0	121.0		246	0.6	0.2	6	dbSNP_127	121	365,8235		3,359,3938	no	coding-synonymous	TREML2	NM_024807.2		3,390,6110	GG,GA,AA		4.2442,0.7036,3.0447		82/322	41165977	396,12610	2203	4300	6503	SO:0001819	synonymous_variant	79865			AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.246T>C	6.37:g.41165977A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	ENST00000483722.1	37	CCDS4853.2																																																																																				0.592	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807	
USP10	9100	mdanderson.org	37	16	84797726	84797726	+	Silent	SNP	G	G	A	rs117002428	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr16:84797726G>A	ENST00000219473.7	+	10	1802	c.1689G>A	c.(1687-1689)tcG>tcA	p.S563S	USP10_ENST00000570191.1_Silent_p.S567S	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	563	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AAAACCACTCGGTCAATGAAG	0.478																																						.											0													45.0	47.0	46.0					16																	84797726		1883	4099	5982	SO:0001819	synonymous_variant	9100			D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1689G>A	16.37:g.84797726G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	37	CCDS45537.1																																																																																				0.478	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1		
CR1	1378	bcgsc.ca	37	1	207787796	207787796	+	Missense_Mutation	SNP	T	T	C	rs61822976		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr1:207787796T>C	ENST00000367049.4	+	40	6623	c.6623T>C	c.(6622-6624)aTg>aCg	p.M2208T	CR1_ENST00000400960.2_Missense_Mutation_p.M1758T|CR1_ENST00000367051.1_Missense_Mutation_p.M1758T|CR1_ENST00000367052.1_Missense_Mutation_p.M1758T|CR1_ENST00000367053.1_Missense_Mutation_p.M1758T	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1758					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.M1758T(1)|p.M2208T(1)|p.M1763T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTGGCTGGAATGAAAGCCCTT	0.408																																						.											3	Substitution - Missense(3)	prostate(3)											128.0	121.0	123.0					1																	207787796		1882	4112	5994	SO:0001583	missense	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6623T>C	1.37:g.207787796T>C	ENSP00000356016:p.Met2208Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	T	3.803	-0.041226	0.07452	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96	4.29	-5.87	0.02297	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.09335	0.0230	N	0.20986	0.625	0.09310	N	1	B;P	0.46457	0.043;0.878	B;B	0.42422	0.009;0.387	T	0.19614	-1.0300	9	0.18276	T	0.48	.	1.2481	0.01977	0.4109:0.0944:0.2677:0.2271	rs61822976	1758;2208	P17927;E9PDY4	CR1_HUMAN;.	T	1758;1758;1758;1758;2208	ENSP00000356019:M1758T;ENSP00000356018:M1758T;ENSP00000356020:M1758T;ENSP00000383744:M1758T;ENSP00000356016:M2208T	ENSP00000356016:M2208T	M	+	2	0	CR1	205854419	0.002000	0.14202	0.000000	0.03702	0.554000	0.35429	-0.327000	0.07955	-0.793000	0.04475	0.358000	0.22013	ATG		0.408	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573	
ZNF33A	7581	bcgsc.ca	37	10	38344700	38344700	+	Missense_Mutation	SNP	C	C	G	rs2505232	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr10:38344700C>G	ENST00000458705.2	+	5	1803	c.1645C>G	c.(1645-1647)Cag>Gag	p.Q549E	ZNF33A_ENST00000432900.2_Missense_Mutation_p.Q556E|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Missense_Mutation_p.Q550E|ZNF33A_ENST00000307441.9_Missense_Mutation_p.Q549E			Q06730	ZN33A_HUMAN	zinc finger protein 33A	549			Q -> E (in dbSNP:rs2505232). {ECO:0000269|PubMed:14702039}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ACACACAGGGCAGAAACCCTT	0.433													G|||	2389	0.477037	0.5272	0.5173	5008	,	,		19110	0.5754		0.493	False		,,,				2504	0.2628					.											0								G	GLU/GLN,GLU/GLN	2268,2138	579.8+/-385.0	553,1162,488	100.0	102.0	102.0		1648,1645	1.7	1.0	10	dbSNP_100	102	4103,4497	591.5+/-392.8	963,2177,1160	no	missense,missense	ZNF33A	NM_006954.1,NM_006974.2	29,29	1516,3339,1648	GG,GC,CC		47.7093,48.5247,48.9851	benign,benign	550/812,549/811	38344700	6371,6635	2203	4300	6503	SO:0001583	missense	7581			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1645C>G	10.37:g.38344700C>G	ENSP00000387713:p.Gln549Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	CCDS31182.1	1117	0.5114468864468864	241	0.4898373983739837	181	0.5	314	0.548951048951049	381	0.5026385224274407	G	0.003	-2.414126	0.00191	0.514753	0.477093	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	1.68	1.68	0.24146	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36591	N	0.002514	T	0.00012	0.0000	N	0.00783	-1.19	0.58432	P	1.0000000000287557E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43572	-0.9383	9	0.02654	T	1	.	7.6052	0.28097	0.0:0.2686:0.7313:0.0	rs2505232;rs17609186;rs59756517;rs2505232	556;549;550	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	E	550;556;549;549	ENSP00000363747:Q550E;ENSP00000402467:Q556E;ENSP00000387713:Q549E;ENSP00000304268:Q549E	ENSP00000304268:Q549E	Q	+	1	0	ZNF33A	38384706	1.000000	0.71417	0.973000	0.42090	0.105000	0.19272	4.342000	0.59341	0.044000	0.15775	-0.676000	0.03789	CAG		0.433	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974	
VPS18	57617	bcgsc.ca	37	15	41191887	41191887	+	Missense_Mutation	SNP	G	G	T			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr15:41191887G>T	ENST00000220509.5	+	4	1210	c.871G>T	c.(871-873)Ggt>Tgt	p.G291C	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	291					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GATGGGGGATGGTGTGTTGTA	0.642																																						.											0													69.0	68.0	68.0					15																	41191887		2203	4300	6503	SO:0001583	missense	57617			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.871G>T	15.37:g.41191887G>T	ENSP00000220509:p.Gly291Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892126	0.72524	.	.	ENSG00000104142	ENST00000220509	T	0.66638	-0.22	4.81	4.81	0.61882	Pep3/Vps18/deep orange (1);	0.000000	0.85682	D	0.000000	D	0.83041	0.5168	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85483	0.1180	10	0.87932	D	0	-28.7849	18.4344	0.90640	0.0:0.0:1.0:0.0	.	291	Q9P253	VPS18_HUMAN	C	291	ENSP00000220509:G291C	ENSP00000220509:G291C	G	+	1	0	VPS18	38979179	1.000000	0.71417	0.803000	0.32268	0.979000	0.70002	9.601000	0.98297	2.646000	0.89796	0.655000	0.94253	GGT		0.642	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2		
TMED1	11018	bcgsc.ca	37	19	10943860	10943866	+	Frame_Shift_Del	DEL	CCAGCCG	CCAGCCG	-	rs140257821		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	CCAGCCG	CCAGCCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr19:10943860_10943866delCCAGCCG	ENST00000214869.2	-	4	587_593	c.489_495delCGGCTGG	c.(487-495)accggctggfs	p.TGW163fs	TMED1_ENST00000591695.1_Frame_Shift_Del_p.PAG102fs|TMED1_ENST00000588289.1_Frame_Shift_Del_p.TGW18fs	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	163					cell-cell signaling (GO:0007267)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						TGCTGCGCTCCAGCCGGGTCCGCATGG	0.623																																						.											0																																										SO:0001589	frameshift_variant	11018			U41804	CCDS12249.1	19p13.2	2008-02-05	2005-08-26			ENSG00000099203			17291	protein-coding gene	gene with protein product		605395	"""transmembrane emp24 domain containing 1"""			11466339, 8621446	Standard	NM_006858		Approved	ST2L, MGC1270, IL1RL1LG, Il1rl1l	uc002mpy.3	Q13445		ENST00000214869.2:c.489_495delCGGCTGG	19.37:g.10943860_10943866delCCAGCCG	ENSP00000214869:p.Thr163fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000214869.2	37	CCDS12249.1																																																																																				0.623	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452614.1	NM_006858	
DNAJC13	23317	bcgsc.ca	37	3	132226100	132226100	+	Missense_Mutation	SNP	A	A	G	rs79953286	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr3:132226100A>G	ENST00000260818.6	+	43	5266	c.5018A>G	c.(5017-5019)tAt>tGt	p.Y1673C		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1673					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GACAAAACTTATGGATCAGAA	0.318													A|||	121	0.0241613	0.0023	0.0461	5008	,	,		17967	0.0		0.0586	False		,,,				2504	0.0276					.											0								A	CYS/TYR	60,4346	56.2+/-92.4	0,60,2143	158.0	161.0	160.0		5018	5.8	1.0	3	dbSNP_131	160	519,8081	146.3+/-201.9	15,489,3796	yes	missense	DNAJC13	NM_015268.3	194	15,549,5939	GG,GA,AA		6.0349,1.3618,4.4518	benign	1673/2244	132226100	579,12427	2203	4300	6503	SO:0001583	missense	23317			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.5018A>G	3.37:g.132226100A>G	ENSP00000260818:p.Tyr1673Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	70	0.03205128205128205	3	0.006097560975609756	16	0.04419889502762431	0	0.0	51	0.06728232189973615	A	13.17	2.156410	0.38119	0.013618	0.060349	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.18502	2.21	5.75	5.75	0.90469	Armadillo-type fold (1);	0.071085	0.64402	D	0.000016	T	0.01661	0.0053	L	0.38175	1.15	0.53688	D	0.999972	D	0.63046	0.992	P	0.49708	0.62	T	0.00130	-1.2014	10	0.54805	T	0.06	.	16.0503	0.80755	1.0:0.0:0.0:0.0	.	1673	O75165	DJC13_HUMAN	C	1673;320	ENSP00000260818:Y1673C	ENSP00000260818:Y1673C	Y	+	2	0	DNAJC13	133708790	1.000000	0.71417	0.977000	0.42913	0.998000	0.95712	5.344000	0.65981	2.181000	0.69327	0.477000	0.44152	TAT		0.318	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268	
ANKRD17	26057	bcgsc.ca	37	4	74012977	74012980	+	Frame_Shift_Del	DEL	TAAC	TAAC	-			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	TAAC	TAAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr4:74012977_74012980delTAAC	ENST00000358602.4	-	9	1853_1856	c.1737_1740delGTTA	c.(1735-1740)ttgttafs	p.LL579fs	ANKRD17_ENST00000514252.1_Intron|ANKRD17_ENST00000509867.2_Frame_Shift_Del_p.LL466fs|ANKRD17_ENST00000330838.6_Frame_Shift_Del_p.LL579fs	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	579					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATAAGTATTTAACTAACTCCAAAT	0.358																																						.											0																																										SO:0001589	frameshift_variant	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.1737_1740delGTTA	4.37:g.74012977_74012980delTAAC	ENSP00000351416:p.Leu579fs	Somatic		WXS	Illumina HiSeq	Phase_I	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Frame_Shift_Del	DEL	ENST00000358602.4	37	CCDS34004.1																																																																																				0.358	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	
INTS1	26173	bcgsc.ca	37	7	1513878	1513878	+	Missense_Mutation	SNP	G	G	T			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr7:1513878G>T	ENST00000404767.3	-	41	5840	c.5755C>A	c.(5755-5757)Cag>Aag	p.Q1919K	INTS1_ENST00000389470.4_Missense_Mutation_p.Q2123K	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1919					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ACGTGCGGCTGCAGCAGCTCC	0.692											OREG0017827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													19.0	26.0	24.0					7																	1513878		2102	4209	6311	SO:0001583	missense	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.5755C>A	7.37:g.1513878G>T	ENSP00000385722:p.Gln1919Lys	Somatic	596	WXS	Illumina HiSeq	Phase_I	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801455	0.70682	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.66815	-0.23;-0.23	4.5	4.5	0.54988	.	0.109676	0.64402	D	0.000004	T	0.63236	0.2494	M	0.68952	2.095	0.54753	D	0.999987	P	0.39116	0.66	B	0.31101	0.124	T	0.71718	-0.4508	10	0.62326	D	0.03	.	17.368	0.87368	0.0:0.0:1.0:0.0	.	1919	Q8N201	INT1_HUMAN	K	1919;2123	ENSP00000385722:Q1919K;ENSP00000374121:Q2123K	ENSP00000374121:Q2123K	Q	-	1	0	INTS1	1480404	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.165000	0.94761	2.351000	0.79841	0.561000	0.74099	CAG		0.692	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1		
ANXA13	312	bcgsc.ca	37	8	124710664	124710664	+	Missense_Mutation	SNP	C	C	T	rs6995099	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr8:124710664C>T	ENST00000419625.1	-	4	394	c.322G>A	c.(322-324)Gtc>Atc	p.V108I	ANXA13_ENST00000262219.6_Missense_Mutation_p.V149I	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	108			V -> I (in dbSNP:rs6995099).		cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TCAATGAGGACGGACTCATCT	0.597													C|||	257	0.0513179	0.0643	0.062	5008	,	,		19912	0.005		0.0845	False		,,,				2504	0.0399					.											0								C	ILE/VAL,ILE/VAL	313,4093	170.1+/-200.6	14,285,1904	108.0	98.0	102.0		445,322	-2.2	0.0	8	dbSNP_116	102	640,7960	163.6+/-216.1	20,600,3680	yes	missense,missense	ANXA13	NM_001003954.1,NM_004306.2	29,29	34,885,5584	TT,TC,CC		7.4419,7.1039,7.3274	benign,benign	149/358,108/317	124710664	953,12053	2203	4300	6503	SO:0001583	missense	312			Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.322G>A	8.37:g.124710664C>T	ENSP00000390809:p.Val108Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q9BQR5	Missense_Mutation	SNP	ENST00000419625.1	37	CCDS47917.1	129	0.059065934065934064	39	0.07926829268292683	24	0.06629834254143646	1	0.0017482517482517483	65	0.08575197889182058	C	13.11	2.138053	0.37728	0.071039	0.074419	ENSG00000104537	ENST00000262219;ENST00000419625;ENST00000520519	T;T;T	0.03635	3.86;3.86;3.86	5.67	-2.2	0.06994	Annexin repeat, conserved site (1);	0.422095	0.27956	N	0.017164	T	0.00144	0.0004	M	0.63208	1.945	0.53005	P	3.100000000000325E-5	P;P	0.37731	0.607;0.553	B;B	0.33690	0.168;0.105	T	0.34625	-0.9821	9	0.48119	T	0.1	.	0.8559	0.01182	0.2909:0.2147:0.2937:0.2007	rs6995099;rs52822457;rs59748842;rs6995099	108;149	P27216;P27216-2	ANX13_HUMAN;.	I	149;108;79	ENSP00000262219:V149I;ENSP00000390809:V108I;ENSP00000429358:V79I	ENSP00000262219:V149I	V	-	1	0	ANXA13	124779845	0.021000	0.18746	0.014000	0.15608	0.633000	0.38033	0.327000	0.19663	-0.417000	0.07461	-0.291000	0.09656	GTC		0.597	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306	
RMI1	80010	bcgsc.ca	37	9	86616443	86616443	+	Missense_Mutation	SNP	T	T	C	rs200956667		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr9:86616443T>C	ENST00000325875.3	+	3	874	c.542T>C	c.(541-543)tTa>tCa	p.L181S		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	181					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						GGTGTTCTCTTATTGAAACCA	0.358																																						.											0								T	SER/LEU	1,4405	2.1+/-5.4	0,1,2202	68.0	71.0	70.0		542	5.8	1.0	9		70	3,8597	2.2+/-6.3	0,3,4297	yes	missense	RMI1	NM_024945.2	145	0,4,6499	CC,CT,TT		0.0349,0.0227,0.0308	probably-damaging	181/626	86616443	4,13002	2203	4300	6503	SO:0001583	missense	80010			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.542T>C	9.37:g.86616443T>C	ENSP00000317039:p.Leu181Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.512493	0.64522	2.27E-4	3.49E-4	ENSG00000178966	ENST00000445877;ENST00000325875	T;T	0.61859	0.07;0.64	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000001	D	0.82393	0.5027	M	0.93375	3.41	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.87110	0.2184	10	0.87932	D	0	-7.9991	16.3668	0.83335	0.0:0.0:0.0:1.0	.	181	Q9H9A7	RMI1_HUMAN	S	181	ENSP00000402433:L181S;ENSP00000317039:L181S	ENSP00000317039:L181S	L	+	2	0	RMI1	85806263	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	4.994000	0.63901	2.322000	0.78497	0.528000	0.53228	TTA		0.358	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945	
TSC1	7248	bcgsc.ca	37	9	135779085	135779094	+	Frame_Shift_Del	DEL	CGGAGGAGCC	CGGAGGAGCC	-	rs397514803|rs118203651		TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	CGGAGGAGCC	CGGAGGAGCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr9:135779085_135779094delCGGAGGAGCC	ENST00000298552.3	-	17	2373_2382	c.2152_2161delGGCTCCTCCG	c.(2152-2163)ggctcctccggcfs	p.GSSG718fs	TSC1_ENST00000440111.2_Frame_Shift_Del_p.GSSG718fs|TSC1_ENST00000545250.1_Frame_Shift_Del_p.GSSG667fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	718					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ATCACCTTGCGGAGGAGCCGCCTGTTCCGG	0.533			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													.	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	1	Unknown(1)	bone(1)																																								SO:0001589	frameshift_variant	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2152_2161delGGCTCCTCCG	9.37:g.135779085_135779094delCGGAGGAGCC	ENSP00000298552:p.Gly718fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z897|Q5VVN5	Frame_Shift_Del	DEL	ENST00000298552.3	37	CCDS6956.1																																																																																				0.533	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1		
TBC1D25	4943	bcgsc.ca	37	X	48418659	48418659	+	Missense_Mutation	SNP	G	G	A	rs235836	byFrequency	TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chrX:48418659G>A	ENST00000376771.4	+	6	1704	c.1363G>A	c.(1363-1365)Gct>Act	p.A455T	TBC1D25_ENST00000537536.1_Missense_Mutation_p.A201T|snoU13_ENST00000459609.1_RNA	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	455				A -> T (in Ref. 2; AAI01818/AAI01820/ AAI25089). {ECO:0000305}.	autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AGTGGCAGACGCTGGTTTTGG	0.607													A|||	2101	0.556556	0.6089	0.3285	3775	,	,		14249	0.4127		0.3082	False		,,,				2504	0.3497					.											0								A	THR/ALA	2926,909		957,587,425,88,146	28.0	23.0	25.0		1363	-7.3	0.0	X	dbSNP_79	25	2876,3852		481,1133,781,814,1091	yes	missense	TBC1D25	NM_002536.2	58	1438,1720,1206,902,1237	AA,AG,A,GG,G		42.7467,23.7027,45.0724	benign	455/689	48418659	5802,4761	2203	4300	6503	SO:0001583	missense	4943			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1363G>A	X.37:g.48418659G>A	ENSP00000365962:p.Ala455Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	CCDS35242.1	892	0.5376732971669681	208	0.6459627329192547	80	0.28169014084507044	157	0.3866995073891626	162	0.2691029900332226	A	0.018	-1.479371	0.01035	0.762973	0.427467	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.21543	2.0;2.0	4.05	-7.34	0.01427	Rab-GAP/TBC domain (2);	2.072600	0.01690	N	0.026624	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34825	-0.9813	9	0.02654	T	1	2.5694	3.1069	0.06345	0.2791:0.2206:0.3908:0.1095	rs235836	459;397;455	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	T	455;201	ENSP00000365962:A455T;ENSP00000444091:A201T	ENSP00000365962:A455T	A	+	1	0	TBC1D25	48303603	0.000000	0.05858	0.015000	0.15790	0.736000	0.42039	-1.130000	0.03241	-2.436000	0.00553	-0.573000	0.04149	GCT		0.607	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536	
PARD3B	117583	bcgsc.ca	37	2	206110538	206110539	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KM-8639-01A-11D-2397-10	TCGA-KM-8639-10A-01D-2397-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0b811c6a-8f05-44bd-ac33-fb720d189e71	04e0d4a3-5826-41d0-9e72-19c5d4ce08ff	g.chr2:206110538_206110539insA	ENST00000406610.2	+	16	2384_2385	c.2177_2178insA	c.(2176-2181)caaaaafs	p.QK726fs	PARD3B_ENST00000351153.1_Frame_Shift_Ins_p.QK726fs|PARD3B_ENST00000462231.1_Frame_Shift_Ins_p.QK726fs|PARD3B_ENST00000349953.3_Frame_Shift_Ins_p.QK726fs|PARD3B_ENST00000358768.2_Frame_Shift_Ins_p.QK664fs	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	726					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TTGGCTGGACAAAAATCGGGTA	0.401																																						.											0																																										SO:0001589	frameshift_variant	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2181dupA	2.37:g.206110542_206110542dupA	ENSP00000385848:p.Gln726fs	Somatic		WXS	Illumina HiSeq	Phase_I	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Frame_Shift_Ins	INS	ENST00000406610.2	37																																																																																					0.401	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177	
