#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
IWS1	55677	broad.mit.edu	37	2	128262756	128262756	+	Silent	SNP	C	C	T			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr2:128262756C>T	ENST00000295321.4	-	3	982	c.723G>A	c.(721-723)gaG>gaA	p.E241E	IWS1_ENST00000486662.1_5'Flank|IWS1_ENST00000455721.2_Silent_p.E248E|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	241	3 X approximate tandem repeats.|Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GTTTGGGAAGCTCCTCATTTT	0.512																																						ENST00000295321.4																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(721-723)gaG>gaA		IWS1 homolog (S. cerevisiae)							132.0	141.0	138.0					2																	128262756		2203	4300	6503	SO:0001819	synonymous_variant	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128262756C>T	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.723G>A	2.37:g.128262756C>T						AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Silent_p.E248E	p.E241E	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	982	-	Colorectal(110;0.1)		241			3 X approximate tandem repeats.|Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Silent	SNP	ENST00000295321.4	37	c.723G>A	CCDS2146.1																																																																																				0.512	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		34	112	0	0	0	1	0	34	112				
TRRAP	8295	broad.mit.edu	37	7	98608832	98608832	+	Missense_Mutation	SNP	T	T	G			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr7:98608832T>G	ENST00000359863.4	+	70	11263	c.11054T>G	c.(11053-11055)gTc>gGc	p.V3685G	AC004893.11_ENST00000360902.1_RNA|TRRAP_ENST00000446306.3_Missense_Mutation_p.V3674G|TRRAP_ENST00000355540.3_Missense_Mutation_p.V3656G	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3685	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCGGAATTCGTCCTGCATTTA	0.532																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(11053-11055)gTc>gGc		transformation/transcription domain-associated protein							124.0	116.0	119.0					7																	98608832		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98608832T>G	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.11054T>G	7.37:g.98608832T>G	ENSP00000352925:p.Val3685Gly					TRRAP_ENST00000446306.3_Missense_Mutation_p.V3674G|TRRAP_ENST00000355540.3_Missense_Mutation_p.V3656G	p.V3685G	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		70	11263	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3685			PI3K/PI4K.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.11054T>G	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.4|20.4	3.984409|3.984409	0.74474|0.74474	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.78707	.|-1.2;-1.2	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	.|0.140567	.|0.50627	.|D	.|0.000117	T|T	0.79003|0.79003	0.4373|0.4373	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.40970	.|0.688;0.608;0.734	.|B;B;B	.|0.38378	.|0.165;0.272;0.272	T|T	0.82725|0.82725	-0.0315|-0.0315	5|10	.|0.87932	.|D	.|0	.|.	15.6745|15.6745	0.77303|0.77303	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|3656;3413;3685	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	A|G	3414|3685;3656;3673	.|ENSP00000352925:V3685G;ENSP00000347733:V3656G	.|ENSP00000347733:V3656G	S|V	+|+	1|2	0|0	TRRAP|TRRAP	98446768|98446768	1.000000|1.000000	0.71417|0.71417	0.437000|0.437000	0.26809|0.26809	0.936000|0.936000	0.57629|0.57629	8.040000|8.040000	0.89188|0.89188	2.109000|2.109000	0.64355|0.64355	0.459000|0.459000	0.35465|0.35465	TCC|GTC		0.532	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		22	123	0	0	0	1	0	22	123				
PPP4R1	9989	broad.mit.edu	37	18	9595085	9595085	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr18:9595085G>A	ENST00000400556.3	-	3	192	c.119C>T	c.(118-120)tCa>tTa	p.S40L	PPP4R1_ENST00000580583.1_5'Flank|PPP4R1_ENST00000400555.3_Missense_Mutation_p.S23L	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	40					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						TTCATCTTGTGAGACAAAGTC	0.403																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.(118-120)tCa>tTa		protein phosphatase 4, regulatory subunit 1							134.0	124.0	127.0					18																	9595085		1899	4114	6013	SO:0001583	missense	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9595085G>A	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.119C>T	18.37:g.9595085G>A	ENSP00000383402:p.Ser40Leu					PPP4R1_ENST00000400555.3_Missense_Mutation_p.S23L	p.S40L	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			3	192	-			40					Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	c.119C>T	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468398	0.43839	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.19806	2.12;2.13	4.66	4.66	0.58398	.	0.169942	0.40222	N	0.001149	T	0.37705	0.1013	L	0.44542	1.39	0.48185	D	0.9996	D;D	0.61697	0.983;0.99	P;D	0.66196	0.877;0.942	T	0.03148	-1.1067	9	.	.	.	-14.0452	18.09	0.89472	0.0:0.0:1.0:0.0	.	40;23	Q8TF05;Q8TF05-2	PP4R1_HUMAN;.	L	40;23	ENSP00000383402:S40L;ENSP00000383401:S23L	.	S	-	2	0	PPP4R1	9585085	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.259000	0.58828	2.584000	0.87258	0.563000	0.77884	TCA		0.403	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		18	34	0	0	0	1	0	18	34				
TRAPPC6B	122553	broad.mit.edu	37	14	39623491	39623491	+	Missense_Mutation	SNP	T	T	C	rs538309490		TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr14:39623491T>C	ENST00000330149.5	-	4	501	c.275A>G	c.(274-276)tAt>tGt	p.Y92C	TRAPPC6B_ENST00000347691.5_Intron|TRAPPC6B_ENST00000557764.1_5'UTR	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B	92					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		CTGAAGTACATAGATGCCCTG	0.318																																						ENST00000330149.5																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(274-276)tAt>tGt		trafficking protein particle complex 6B							85.0	77.0	79.0					14																	39623491		1828	4083	5911	SO:0001583	missense	122553				vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding	g.chr14:39623491T>C	AK025437	CCDS9670.1, CCDS41947.1	14q13.3	2011-10-10			ENSG00000182400	ENSG00000182400		"""Trafficking protein particle complex"""	23066	protein-coding gene	gene with protein product		610397					Standard	NM_177452		Approved		uc001wut.1	Q86SZ2	OTTHUMG00000140259	ENST00000330149.5:c.275A>G	14.37:g.39623491T>C	ENSP00000330289:p.Tyr92Cys					TRAPPC6B_ENST00000557764.1_5'UTR|TRAPPC6B_ENST00000347691.5_Intron	p.Y92C	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)	4	501	-	Hepatocellular(127;0.213)		92					B3KPS2|Q5JPD6|Q86U35|Q86X35	Missense_Mutation	SNP	ENST00000330149.5	37	c.275A>G	CCDS41947.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.432133	0.83776	.	.	ENSG00000182400	ENST00000330149	T	0.61158	0.13	6.08	6.08	0.98989	NO signalling/Golgi transport  ligand-binding domain (1);	0.106625	0.64402	D	0.000003	D	0.83078	0.5176	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.87778	0.2610	10	0.87932	D	0	-23.2244	16.6512	0.85203	0.0:0.0:0.0:1.0	.	30;92	B4DFZ8;Q86SZ2	.;TPC6B_HUMAN	C	92	ENSP00000330289:Y92C	ENSP00000330289:Y92C	Y	-	2	0	TRAPPC6B	38693242	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.103000	0.77014	2.333000	0.79357	0.482000	0.46254	TAT		0.318	TRAPPC6B-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276775.1	NM_177452		4	10	0	0	0	1	0	4	10				
DAPK1	1612	broad.mit.edu	37	9	90296532	90296532	+	Nonsense_Mutation	SNP	A	A	T			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr9:90296532A>T	ENST00000408954.3	+	20	2550	c.2215A>T	c.(2215-2217)Aag>Tag	p.K739*	DAPK1_ENST00000469640.2_Nonsense_Mutation_p.K739*|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.K739*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.K739*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.K739*	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	739					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCTGGCTTCTAAGCCCACAGG	0.577									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(2215-2217)Aag>Tag		death-associated protein kinase 1							26.0	28.0	27.0					9																	90296532		1924	4117	6041	SO:0001587	stop_gained	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90296532A>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2215A>T	9.37:g.90296532A>T	ENSP00000386135:p.Lys739*					DAPK1_ENST00000408954.3_Nonsense_Mutation_p.K739*|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.K739*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.K739*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.K739*	p.K739*			P53355	DAPK1_HUMAN			20	2590	+			739					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Nonsense_Mutation	SNP	ENST00000408954.3	37	c.2215A>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	A	38	7.097315	0.98063	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	.	.	.	5.17	4.03	0.46877	.	0.110660	0.37136	N	0.002225	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5585	0.45131	0.9239:0.0:0.0761:0.0	.	.	.	.	X	739	.	ENSP00000350785:K739X	K	+	1	0	DAPK1	89486352	1.000000	0.71417	0.307000	0.25127	0.111000	0.19643	9.047000	0.93823	1.016000	0.39470	0.454000	0.30748	AAG		0.577	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		4	13	0	0	0	1	0	4	13				
GPR26	2849	broad.mit.edu	37	10	125426388	125426388	+	Silent	SNP	G	G	A			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr10:125426388G>A	ENST00000284674.1	+	1	518	c.465G>A	c.(463-465)tcG>tcA	p.S155S		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	155					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				TGTACGCCTCGTGCACGCTGT	0.692																																						ENST00000284674.1																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20						c.(463-465)tcG>tcA		G protein-coupled receptor 26							15.0	14.0	14.0					10																	125426388		2198	4291	6489	SO:0001819	synonymous_variant	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125426388G>A		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.465G>A	10.37:g.125426388G>A							p.S155S	NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN			1	518	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	155					Q2M2E2	Silent	SNP	ENST00000284674.1	37	c.465G>A	CCDS7636.1																																																																																				0.692	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			7	20	0	0	0	1	0	7	20				
NLRP4	147945	broad.mit.edu	37	19	56372898	56372898	+	Missense_Mutation	SNP	G	G	A	rs368338379		TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr19:56372898G>A	ENST00000301295.6	+	4	2425	c.2003G>A	c.(2002-2004)cGc>cAc	p.R668H	NLRP4_ENST00000346986.5_Missense_Mutation_p.R668H|NLRP4_ENST00000587891.1_Missense_Mutation_p.R593H	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	668					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCCAGCTGTCGCCTTCAGAAG	0.557																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(2002-2004)cGc>cAc		NLR family, pyrin domain containing 4		G	HIS/ARG	0,4406		0,0,2203	105.0	93.0	97.0		2003	-9.0	0.0	19		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP4	NM_134444.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	668/995	56372898	1,13005	2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56372898G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2003G>A	19.37:g.56372898G>A	ENSP00000301295:p.Arg668His					NLRP4_ENST00000587891.1_Missense_Mutation_p.R593H|NLRP4_ENST00000346986.5_Missense_Mutation_p.R668H	p.R668H	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	4	2425	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	668					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.2003G>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	8.800	0.932783	0.18131	0.0	1.16E-4	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.88124	-2.34;-2.34	4.49	-8.97	0.00758	.	.	.	.	.	T	0.66752	0.2821	N	0.12746	0.255	0.09310	N	1	B;B;B	0.12630	0.006;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.001	T	0.54180	-0.8332	9	0.32370	T	0.25	.	2.8286	0.05492	0.2771:0.1511:0.4165:0.1553	.	668;593;668	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	H	668	ENSP00000301295:R668H;ENSP00000344787:R668H	ENSP00000301295:R668H	R	+	2	0	NLRP4	61064710	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.076000	0.03420	-2.404000	0.00576	-1.553000	0.00894	CGC		0.557	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		20	39	0	0	0	1	0	20	39				
SI	6476	broad.mit.edu	37	3	164735586	164735586	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr3:164735586C>A	ENST00000264382.3	-	30	3658	c.3596G>T	c.(3595-3597)gGc>gTc	p.G1199V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1199	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TGGAGTTGGGCCCAAAAACAT	0.333										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(3595-3597)gGc>gTc		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						60.0	58.0	58.0					3																	164735586		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164735586C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3596G>T	3.37:g.164735586C>A	ENSP00000264382:p.Gly1199Val	HNSCC(35;0.089)					p.G1199V	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			30	3658	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1199			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3596G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317842	0.81469	.	.	ENSG00000090402	ENST00000264382	D	0.98550	-4.99	4.91	4.91	0.64330	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.99441	0.9802	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98126	1.0428	10	0.87932	D	0	.	18.2831	0.90104	0.0:1.0:0.0:0.0	.	1199	P14410	SUIS_HUMAN	V	1199	ENSP00000264382:G1199V	ENSP00000264382:G1199V	G	-	2	0	SI	166218280	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.465000	0.73538	2.540000	0.85666	0.491000	0.48974	GGC		0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		3	25	1	0	2.56e-06	1	2.752e-06	3	25				
CADM3	57863	broad.mit.edu	37	1	159166233	159166233	+	Silent	SNP	C	C	T	rs373766355		TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr1:159166233C>T	ENST00000368125.4	+	6	928	c.771C>T	c.(769-771)cgC>cgT	p.R257R	CADM3_ENST00000368124.4_Silent_p.R291R|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	257	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GTGAGGGTCGCGGCAATCCAG	0.507											OREG0013913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368125.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(769-771)cgC>cgT		cell adhesion molecule 3		C	,	2,4404	4.2+/-10.8	0,2,2201	190.0	133.0	152.0		771,873	-4.2	0.3	1		152	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CADM3	NM_001127173.1,NM_021189.3	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	257/399,291/433	159166233	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159166233C>T	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.771C>T	1.37:g.159166233C>T			OREG0013913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1799	CADM3_ENST00000368124.4_Silent_p.R291R|CTA-134P22.2_ENST00000415675.2_RNA	p.R257R	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			6	928	+	all_hematologic(112;0.0429)		257			Ig-like C2-type 2.		Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	c.771C>T	CCDS44251.1																																																																																				0.507	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		9	21	0	0	0	1	0	9	21				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		5	33	0	0	0	1	0	5	33				
HIST1H3H	8357	broad.mit.edu	37	6	27777905	27777905	+	Silent	SNP	C	C	A			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr6:27777905C>A	ENST00000369163.2	+	1	64	c.54C>A	c.(52-54)cgC>cgA	p.R18R	HIST1H2BL_ENST00000377401.2_5'Flank	NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	18					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						AGGCTCCGCGCAAGCAGCTGG	0.632																																						ENST00000369163.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						c.(52-54)cgC>cgA		histone cluster 1, H3h							36.0	43.0	40.0					6																	27777905		2202	4299	6501	SO:0001819	synonymous_variant	8357				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27777905C>A	Z83735	CCDS4627.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000203813	ENSG00000278828		"""Histones / Replication-dependent"""	4775	protein-coding gene	gene with protein product		602818	"""H3 histone family, member K"", ""histone 1, H3h"""	H3FK		9439656, 12408966	Standard	NM_003536		Approved	H3/k, H3F1K	uc003njm.3	P68431	OTTHUMG00000014483	ENST00000369163.2:c.54C>A	6.37:g.27777905C>A							p.R18R	NM_003536.2	NP_003527.1	P68431	H31_HUMAN			1	64	+			18					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000369163.2	37	c.54C>A	CCDS4627.1																																																																																				0.632	HIST1H3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040151.1	NM_003536		12	85	1	0	6.40141e-05	1	6.71367e-05	12	85				
C10orf107	219621	broad.mit.edu	37	10	63525768	63525768	+	Silent	SNP	C	C	G			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr10:63525768C>G	ENST00000330194.2	+	7	929	c.624C>G	c.(622-624)gcC>gcG	p.A208A		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	208										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					TGAAAAAGGCCTAAGGACTTG	0.403																																						ENST00000330194.2																			0				breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8						c.(622-624)gcC>gcG		chromosome 10 open reading frame 107							59.0	58.0	59.0					10																	63525768		2203	4300	6503	SO:0001819	synonymous_variant	219621							g.chr10:63525768C>G	BC041932	CCDS7262.1	10q21.3	2012-06-01			ENSG00000183346	ENSG00000183346			28678	protein-coding gene	gene with protein product						12477932	Standard	NM_173554		Approved	bA63A2.1, Em:AC022398.2, MGC44593	uc010qik.2	Q8IVU9	OTTHUMG00000018295	ENST00000330194.2:c.624C>G	10.37:g.63525768C>G							p.A208A	NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN			7	929	+	Prostate(12;0.016)		208					Q5T1B8	Silent	SNP	ENST00000330194.2	37	c.624C>G	CCDS7262.1																																																																																				0.403	C10orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048228.2	NM_173554		13	18	0	0	0	1	0	13	18				
MC3R	4159	broad.mit.edu	37	20	54823997	54823997	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr20:54823997C>A	ENST00000243911.2	+	1	210	c.98C>A	c.(97-99)gCc>gAc	p.A33D		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	33					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			AGCAGCAGCGCCTTCTGTGAG	0.562																																						ENST00000243911.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(97-99)gCc>gAc		melanocortin 3 receptor							123.0	114.0	117.0					20																	54823997		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54823997C>A		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.98C>A	20.37:g.54823997C>A	ENSP00000243911:p.Ala33Asp						p.A33D	NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	210	+			70					Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.98C>A	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	8.621	0.891414	0.17613	.	.	ENSG00000124089	ENST00000243911	T	0.35789	1.29	5.01	4.07	0.47477	.	0.488989	0.19418	N	0.114767	T	0.21881	0.0527	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19353	-1.0308	10	0.52906	T	0.07	.	14.3606	0.66768	0.0:0.1703:0.8297:0.0	.	70	P41968	MC3R_HUMAN	D	33	ENSP00000243911:A33D	ENSP00000243911:A33D	A	+	2	0	MC3R	54257404	0.029000	0.19370	0.006000	0.13384	0.237000	0.25408	-0.229000	0.09098	1.109000	0.41680	0.650000	0.86243	GCC		0.562	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			31	112	1	0	1.26612e-14	1	1.51231e-14	31	112				
SRPX2	27286	broad.mit.edu	37	X	99925824	99925824	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chrX:99925824G>A	ENST00000373004.3	+	11	1666	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	RP11-524D16__A.3_ENST00000568809.1_RNA	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	413					angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CGCCTCACTCGCTCCTACTTC	0.517											OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373004.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(1237-1239)cGc>cAc		sushi-repeat containing protein, X-linked 2							158.0	123.0	135.0					X																	99925824		2203	4300	6503	SO:0001583	missense	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99925824G>A	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.1238G>A	X.37:g.99925824G>A	ENSP00000362095:p.Arg413His		OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1347		p.R413H	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN			11	1666	+			413					B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	c.1238G>A	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130519	0.77549	.	.	ENSG00000102359	ENST00000373004	T	0.44482	0.92	5.1	3.32	0.38043	.	0.102319	0.64402	D	0.000008	T	0.49830	0.1580	L	0.38175	1.15	0.44247	D	0.997098	D	0.59767	0.986	P	0.62014	0.897	T	0.37549	-0.9701	9	.	.	.	-2.7336	14.5827	0.68302	0.0:0.2856:0.7144:0.0	.	413	O60687	SRPX2_HUMAN	H	413	ENSP00000362095:R413H	.	R	+	2	0	SRPX2	99812480	0.981000	0.34729	0.992000	0.48379	0.997000	0.91878	1.600000	0.36762	0.534000	0.28695	0.529000	0.55759	CGC		0.517	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		19	14	0	0	0	1	0	19	14				
ATP8B2	57198	broad.mit.edu	37	1	154315375	154315375	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr1:154315375C>T	ENST00000368489.3	+	15	1490	c.1490C>T	c.(1489-1491)aCg>aTg	p.T497M		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	483					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GACCCCCACACGCATGAGTTC	0.552																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1489-1491)aCg>aTg		ATPase, aminophospholipid transporter, class I, type 8B, member 2							53.0	56.0	55.0					1																	154315375		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154315375C>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1490C>T	1.37:g.154315375C>T	ENSP00000357475:p.Thr497Met						p.T497M	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		15	1490	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		483					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.1490C>T	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620069	0.46736	.	.	ENSG00000143515	ENST00000368489	T	0.63096	-0.02	5.39	2.45	0.29901	.	0.235110	0.44097	D	0.000498	T	0.42494	0.1205	L	0.38175	1.15	0.23198	N	0.998133	D	0.54772	0.968	P	0.50270	0.636	T	0.27806	-1.0063	10	0.72032	D	0.01	.	9.3521	0.38145	0.0:0.6958:0.0:0.3042	.	497	P98198-3	.	M	497	ENSP00000357475:T497M	ENSP00000357475:T497M	T	+	2	0	ATP8B2	152581999	0.529000	0.26322	0.210000	0.23637	0.948000	0.59901	2.400000	0.44504	0.841000	0.35020	0.655000	0.94253	ACG		0.552	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		10	33	0	0	0	1	0	10	33				
PRKRIR	5612	broad.mit.edu	37	11	76062399	76062399	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr11:76062399G>A	ENST00000260045.3	-	5	1900	c.1795C>T	c.(1795-1797)Ctc>Ttc	p.L599F	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	599					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						AGAGCTTTGAGGTGCTGTTCT	0.408																																						ENST00000260045.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						c.(1795-1797)Ctc>Ttc		protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)							69.0	66.0	67.0					11																	76062399		2200	4287	6487	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76062399G>A	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1795C>T	11.37:g.76062399G>A	ENSP00000260045:p.Leu599Phe						p.L599F	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN			5	1900	-			599					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.1795C>T	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499028	0.44455	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.22336	1.96;1.96	5.13	5.13	0.70059	Ribonuclease H-like (1);	0.112316	0.64402	D	0.000016	T	0.18173	0.0436	M	0.64997	1.995	0.58432	D	0.999996	P	0.35242	0.492	B	0.30105	0.111	T	0.02539	-1.1144	10	0.15066	T	0.55	.	9.5473	0.39288	0.1636:0.0:0.8364:0.0	.	599	O43422	P52K_HUMAN	F	424;599	ENSP00000436249:L424F;ENSP00000260045:L599F	ENSP00000260045:L599F	L	-	1	0	PRKRIR	75740047	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.263000	0.51546	2.607000	0.88179	0.644000	0.83932	CTC		0.408	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		25	42	0	0	0	1	0	25	42				
TAGLN3	29114	broad.mit.edu	37	3	111719774	111719774	+	Silent	SNP	G	G	A			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr3:111719774G>A	ENST00000393917.2	+	3	888	c.336G>A	c.(334-336)caG>caA	p.Q112Q	TAGLN3_ENST00000478951.1_Silent_p.Q112Q|TAGLN3_ENST00000486460.1_Silent_p.Q28Q|TAGLN3_ENST00000273368.4_Silent_p.Q112Q|TAGLN3_ENST00000455401.2_Silent_p.Q112Q	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	112	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						ACATCTTTCAGACGGTGGATC	0.473																																						ENST00000393917.2																			0				endometrium(2)|lung(5)|urinary_tract(1)	8						c.(334-336)caG>caA		transgelin 3							126.0	130.0	129.0					3																	111719774		2203	4300	6503	SO:0001819	synonymous_variant	29114				central nervous system development|muscle organ development			g.chr3:111719774G>A	AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.336G>A	3.37:g.111719774G>A						TAGLN3_ENST00000273368.4_Silent_p.Q112Q|TAGLN3_ENST00000486460.1_Silent_p.Q28Q|TAGLN3_ENST00000478951.1_Silent_p.Q112Q|TAGLN3_ENST00000455401.2_Silent_p.Q112Q	p.Q112Q	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN			3	888	+			112			CH.		D3DN64|Q96A74	Silent	SNP	ENST00000393917.2	37	c.336G>A	CCDS33816.1																																																																																				0.473	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354331.1	NM_013259		12	81	0	0	0	1	0	12	81				
SYCP2	10388	broad.mit.edu	37	20	58443955	58443955	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr20:58443955G>T	ENST00000357552.3	-	37	3992	c.3767C>A	c.(3766-3768)tCc>tAc	p.S1256Y	SYCP2_ENST00000371001.2_Missense_Mutation_p.S1256Y			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1256					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ACTAGACTTGGATAATGAAGA	0.313																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3766-3768)tCc>tAc		synaptonemal complex protein 2							111.0	103.0	105.0					20																	58443955		2203	4299	6502	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58443955G>T	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3767C>A	20.37:g.58443955G>T	ENSP00000350162:p.Ser1256Tyr					SYCP2_ENST00000371001.2_Missense_Mutation_p.S1256Y	p.S1256Y			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		37	3992	-	all_lung(29;0.00344)		1256					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.3767C>A	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526866	0.27299	.	.	ENSG00000196074	ENST00000371001;ENST00000357552	T;T	0.27557	1.66;1.66	5.13	4.18	0.49190	.	0.000000	0.64402	D	0.000002	T	0.48150	0.1484	M	0.66939	2.045	0.09310	N	0.999999	D	0.63880	0.993	D	0.63113	0.911	T	0.32534	-0.9903	10	0.87932	D	0	-1.891	11.1565	0.48491	0.0895:0.0:0.9105:0.0	.	1256	Q9BX26	SYCP2_HUMAN	Y	1256	ENSP00000360040:S1256Y;ENSP00000350162:S1256Y	ENSP00000350162:S1256Y	S	-	2	0	SYCP2	57877350	0.224000	0.23674	0.056000	0.19401	0.035000	0.12851	1.611000	0.36879	2.830000	0.97506	0.585000	0.79938	TCC		0.313	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		5	25	1	0	0.184627	1	0.184627	5	25				
CTC-260E6.6	0	broad.mit.edu	37	19	20369503	20369503	+	RNA	SNP	C	C	G	rs8103002	byFrequency	TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr19:20369503C>G	ENST00000593655.1	-	0	199																											TTATTGACTGCTGTAGTGGTA	0.458													G|||	2075	0.414337	0.6596	0.3501	5008	,	,		18938	0.4633		0.1879	False		,,,				2504	0.3108					ENST00000593655.1																			0																																																			0							g.chr19:20369503C>G																													19.37:g.20369503C>G														0	199	-									RNA	SNP	ENST00000593655.1	37																																																																																						0.458	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			4	54	0	0	0	1	0	4	54				
CEACAM16	388551	broad.mit.edu	37	19	45211203	45211203	+	Silent	SNP	C	C	T			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr19:45211203C>T	ENST00000405314.2	+	5	1108	c.1011C>T	c.(1009-1011)acC>acT	p.T337T	CEACAM16_ENST00000587331.1_Silent_p.T337T|CTB-171A8.1_ENST00000590796.1_RNA			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	337					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TAACACTGACCGTGCAGGGCT	0.672																																						ENST00000587331.1																			0				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9						c.(1009-1011)acC>acT		carcinoembryonic antigen-related cell adhesion molecule 16							16.0	17.0	17.0					19																	45211203		2155	4238	6393	SO:0001819	synonymous_variant	388551							g.chr19:45211203C>T		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.1011C>T	19.37:g.45211203C>T						CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Silent_p.T337T	p.T337T	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN			6	1226	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	337					A7LI12	Silent	SNP	ENST00000405314.2	37	c.1011C>T	CCDS54278.1																																																																																				0.672	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177		4	8	0	0	0	1	0	4	8				
TENM3	55714	broad.mit.edu	37	4	183713808	183713808	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr4:183713808C>A	ENST00000511685.1	+	26	6106	c.5983C>A	c.(5983-5985)Caa>Aaa	p.Q1995K	TENM3_ENST00000406950.2_Missense_Mutation_p.Q1995K			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1995					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TAGATACAGGCAAATTGGTCC	0.413																																						ENST00000511685.1																			0											c.(5983-5985)Caa>Aaa		teneurin transmembrane protein 3							294.0	282.0	286.0					4																	183713808		1942	4135	6077	SO:0001583	missense	55714							g.chr4:183713808C>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5983C>A	4.37:g.183713808C>A	ENSP00000424226:p.Gln1995Lys					TENM3_ENST00000406950.2_Missense_Mutation_p.Q1995K	p.Q1995K							26	6106	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.5983C>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524931	0.27299	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86030	-2.06;-2.06	4.83	4.83	0.62350	.	.	.	.	.	T	0.70919	0.3279	N	0.16656	0.425	0.80722	D	1	P	0.48764	0.915	B	0.37780	0.258	T	0.73733	-0.3890	9	0.02654	T	1	.	18.4753	0.90790	0.0:1.0:0.0:0.0	.	1995	Q9P273	TEN3_HUMAN	K	1995	ENSP00000424226:Q1995K;ENSP00000385276:Q1995K	ENSP00000385276:Q1995K	Q	+	1	0	ODZ3	183950802	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.583000	0.82559	2.655000	0.90218	0.655000	0.94253	CAA		0.413	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			32	149	1	0	9.65963e-10	1	1.12261e-09	32	149				
TNN	63923	broad.mit.edu	37	1	175046867	175046867	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr1:175046867G>T	ENST00000239462.4	+	2	426	c.313G>T	c.(313-315)Gtc>Ttc	p.V105F		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	105					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGCAGGCAGTGTCCAGGACCT	0.602																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(313-315)Gtc>Ttc		tenascin N							57.0	56.0	56.0					1																	175046867		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175046867G>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.313G>T	1.37:g.175046867G>T	ENSP00000239462:p.Val105Phe						p.V105F	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	2	426	+		Breast(1374;0.000962)	105					B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.313G>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738547	0.30774	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.32272	1.46	5.51	-2.77	0.05877	.	0.325046	0.33553	N	0.004787	T	0.13798	0.0334	N	0.25957	0.775	0.21782	N	0.999542	B;B	0.23442	0.085;0.035	B;B	0.18561	0.022;0.021	T	0.07424	-1.0773	10	0.36615	T	0.2	.	2.7007	0.05148	0.3442:0.1794:0.3823:0.0941	.	105;105	B3KXB6;Q9UQP3	.;TENN_HUMAN	F	105	ENSP00000239462:V105F	ENSP00000239462:V105F	V	+	1	0	TNN	173313490	0.000000	0.05858	0.122000	0.21767	0.704000	0.40688	-1.105000	0.03323	0.002000	0.14630	0.655000	0.94253	GTC		0.602	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		7	51	1	0	3.09899e-07	1	3.41683e-07	7	51				
MUC16	94025	broad.mit.edu	37	19	9080484	9080484	+	Missense_Mutation	SNP	C	C	A	rs371846589		TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr19:9080484C>A	ENST00000397910.4	-	2	9750	c.9547G>T	c.(9547-9549)Gcc>Tcc	p.A3183S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3184	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGCTGGGGCAGGCCACGTG	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(9547-9549)Gcc>Tcc		mucin 16, cell surface associated							143.0	139.0	140.0					19																	9080484		1937	4128	6065	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9080484C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9547G>T	19.37:g.9080484C>A	ENSP00000381008:p.Ala3183Ser						p.A3183S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			2	9750	-			3184			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.9547G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.512	-0.549108	0.04024	.	.	ENSG00000181143	ENST00000397910	T	0.02631	4.22	0.926	-1.85	0.07784	.	.	.	.	.	T	0.01627	0.0052	N	0.08118	0	.	.	.	B	0.20052	0.041	B	0.12837	0.008	T	0.42396	-0.9454	8	0.87932	D	0	.	5.3345	0.15949	0.4126:0.5874:0.0:0.0	.	3183	B5ME49	.	S	3183	ENSP00000381008:A3183S	ENSP00000381008:A3183S	A	-	1	0	MUC16	8941484	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.718000	0.00813	-1.093000	0.03058	-0.823000	0.03104	GCC		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	54	1	0	8.12818e-05	1	8.32171e-05	7	54				
MAFF	23764	broad.mit.edu	37	22	38609879	38609879	+	Missense_Mutation	SNP	T	T	C	rs377667070		TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr22:38609879T>C	ENST00000338483.2	+	2	381	c.19T>C	c.(19-21)Tcc>Ccc	p.S7P	MAFF_ENST00000538999.1_Intron|MAFF_ENST00000407965.1_Missense_Mutation_p.S7P|MAFF_ENST00000426621.2_Missense_Mutation_p.S7P|MAFF_ENST00000538320.1_Missense_Mutation_p.S7P			Q9ULX9	MAFF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F	7					blood coagulation (GO:0007596)|in utero embryonic development (GO:0001701)|parturition (GO:0007567)|regulation of epidermal cell differentiation (GO:0045604)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)|skin(1)	3	Melanoma(58;0.045)					GGATCCCCTATCCAGCAAAGC	0.527																																						ENST00000338483.2																			0				lung(2)|skin(1)	3						c.(19-21)Tcc>Ccc		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F		T	PRO/SER,PRO/SER,,PRO/SER	1,4405	2.1+/-5.4	0,1,2202	126.0	104.0	111.0		19,19,,19	4.0	1.0	22		111	0,8600		0,0,4300	no	missense,missense,intron,missense	MAFF	NM_001161572.1,NM_001161573.1,NM_001161574.1,NM_012323.3	74,74,,74	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign,,benign	7/165,7/165,,7/165	38609879	1,13005	2203	4300	6503	SO:0001583	missense	23764				blood coagulation|parturition|transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:38609879T>C	AJ010857	CCDS13968.1, CCDS54528.1	22q13.1	2013-07-09	2013-07-09		ENSG00000185022	ENSG00000185022			6780	protein-coding gene	gene with protein product		604877				10591208	Standard	NM_012323		Approved	hMafF	uc011anr.2	Q9ULX9	OTTHUMG00000151163	ENST00000338483.2:c.19T>C	22.37:g.38609879T>C	ENSP00000345393:p.Ser7Pro					MAFF_ENST00000538999.1_Intron|MAFF_ENST00000538320.1_Missense_Mutation_p.S7P|MAFF_ENST00000426621.2_Missense_Mutation_p.S7P|MAFF_ENST00000407965.1_Missense_Mutation_p.S7P	p.S7P			Q9ULX9	MAFF_HUMAN			2	381	+	Melanoma(58;0.045)		7					B4DV49|Q9Y525	Missense_Mutation	SNP	ENST00000338483.2	37	c.19T>C	CCDS13968.1	.	.	.	.	.	.	.	.	.	.	T	11.89	1.774460	0.31411	2.27E-4	0.0	ENSG00000185022	ENST00000338483;ENST00000538320;ENST00000417948;ENST00000426621;ENST00000407965	D;D;D;D;D	0.83673	-1.75;-1.75;-1.74;-1.75;-1.75	4.03	4.03	0.46877	.	0.422745	0.23498	N	0.047525	T	0.71584	0.3357	N	0.25647	0.755	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.66176	-0.5989	10	0.33940	T	0.23	-15.5376	10.5182	0.44903	0.0:0.0:0.0:1.0	.	7	Q9ULX9	MAFF_HUMAN	P	7	ENSP00000345393:S7P;ENSP00000442060:S7P;ENSP00000416493:S7P;ENSP00000388882:S7P;ENSP00000384094:S7P	ENSP00000345393:S7P	S	+	1	0	MAFF	36939825	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.878000	0.48515	1.483000	0.48342	0.383000	0.25322	TCC		0.527	MAFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321624.1	NM_001161572		7	39	0	0	0	1	0	7	39				
TBC1D2	55357	broad.mit.edu	37	9	100975410	100975410	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr9:100975410C>G	ENST00000375064.1	-	7	1503	c.1465G>C	c.(1465-1467)Gag>Cag	p.E489Q	TBC1D2_ENST00000493589.2_Intron|TBC1D2_ENST00000342112.5_Missense_Mutation_p.E271Q|TBC1D2_ENST00000375066.5_Missense_Mutation_p.E489Q|TBC1D2_ENST00000375063.1_Missense_Mutation_p.E29Q	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	489					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGGGCCTTCTCCTTCTCAGCC	0.592																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1465-1467)Gag>Cag		TBC1 domain family, member 2							107.0	98.0	101.0					9																	100975410		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100975410C>G	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.1465G>C	9.37:g.100975410C>G	ENSP00000364205:p.Glu489Gln					TBC1D2_ENST00000493589.2_Intron|TBC1D2_ENST00000342112.5_Missense_Mutation_p.E271Q|TBC1D2_ENST00000375064.1_Missense_Mutation_p.E489Q|TBC1D2_ENST00000375063.1_Missense_Mutation_p.E29Q	p.E489Q	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	7	1556	-		Myeloproliferative disorder(762;0.0255)	489					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.1465G>C		.	.	.	.	.	.	.	.	.	.	C	16.69	3.192286	0.58017	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112;ENST00000375063	T;T;T;T	0.14266	2.52;2.73;2.52;2.91	5.43	3.55	0.40652	.	0.158173	0.56097	N	0.000034	T	0.13756	0.0333	L	0.49350	1.555	0.48901	D	0.999729	B;P	0.36683	0.429;0.565	B;B	0.33254	0.077;0.16	T	0.02625	-1.1132	10	0.48119	T	0.1	.	13.2909	0.60270	0.0:0.6669:0.3331:0.0	.	489;489	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	Q	489;489;271;29	ENSP00000364205:E489Q;ENSP00000364207:E489Q;ENSP00000341567:E271Q;ENSP00000364203:E29Q	ENSP00000341567:E271Q	E	-	1	0	TBC1D2	100015231	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.629000	0.61290	0.640000	0.30582	0.655000	0.94253	GAG		0.592	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		8	17	0	0	0	1	0	8	17				
BMX	660	broad.mit.edu	37	X	15574250	15574250	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chrX:15574250C>T	ENST00000357607.2	+	19	2196	c.2008C>T	c.(2008-2010)Cgg>Tgg	p.R670W	BMX_ENST00000342014.6_Missense_Mutation_p.R670W|BMX_ENST00000348343.6_Missense_Mutation_p.R670W			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	670	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> W (in a lung large cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.R670W(3)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TGAACCACTTCGGGAAAAAGA	0.383																																						ENST00000357607.2																			3	Substitution - Missense(3)	p.R670W(3)	lung(2)|urinary_tract(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30						c.(2008-2010)Cgg>Tgg		BMX non-receptor tyrosine kinase							165.0	159.0	161.0					X																	15574250		2203	4300	6503	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15574250C>T	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.2008C>T	X.37:g.15574250C>T	ENSP00000350224:p.Arg670Trp					BMX_ENST00000348343.6_Missense_Mutation_p.R670W|BMX_ENST00000342014.6_Missense_Mutation_p.R670W	p.R670W			P51813	BMX_HUMAN			19	2196	+	Hepatocellular(33;0.183)		670		R -> W (in a lung large cell carcinoma sample; somatic mutation).	Protein kinase.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.2008C>T	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876967	0.72180	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.77620	-1.11;-1.11;-1.11	5.98	5.11	0.69529	Protein kinase, catalytic domain (1);	0.571037	0.15991	N	0.234799	T	0.73110	0.3545	L	0.45352	1.415	0.33273	D	0.561303	D	0.71674	0.998	P	0.46026	0.501	T	0.80547	-0.1334	10	0.62326	D	0.03	.	10.3445	0.43899	0.0:0.9054:0.0:0.0946	.	670	P51813	BMX_HUMAN	W	670	ENSP00000350224:R670W;ENSP00000308774:R670W;ENSP00000340082:R670W	ENSP00000340082:R670W	R	+	1	2	BMX	15484171	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	2.215000	0.42862	2.508000	0.84585	0.600000	0.82982	CGG		0.383	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		33	29	0	0	0	1	0	33	29				
ELFN2	114794	broad.mit.edu	37	22	37770517	37770517	+	Missense_Mutation	SNP	G	G	A	rs140802260		TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr22:37770517G>A	ENST00000402918.2	-	3	1843	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	353	Fibronectin type-III.				negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CTCAGTGTGCGCCCGCAGTTT	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		20709	0.0		0.001	False		,,,				2504	0.0					ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(1057-1059)gCg>gTg		extracellular leucine-rich repeat and fibronectin type III domain containing 2		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	230.0	208.0	215.0		1058	4.0	1.0	22	dbSNP_134	215	4,8596	3.7+/-12.6	0,4,4296	yes	missense	ELFN2	NM_052906.3	64	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	353/821	37770517	5,13001	2203	4300	6503	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37770517G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1058C>T	22.37:g.37770517G>A	ENSP00000385277:p.Ala353Val					ELFN2_ENST00000349653.3_Missense_Mutation_p.A353V|RP1-63G5.5_ENST00000430883.1_RNA	p.A353V	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	1843	-	Melanoma(58;0.0574)		353			Fibronectin type-III.		Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.1058C>T	CCDS33642.1	9	0.004120879120879121	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	6	0.0079155672823219	G	13.46	2.244963	0.39697	2.27E-4	4.65E-4	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.04706	3.57;3.57	5.24	4.01	0.46588	.	0.118729	0.56097	D	0.000025	T	0.03651	0.0104	L	0.36672	1.1	0.38828	D	0.955773	B	0.15141	0.012	B	0.08055	0.003	T	0.34129	-0.9841	10	0.46703	T	0.11	-33.3643	14.7002	0.69150	0.0823:0.0:0.9177:0.0	.	353	Q5R3F8	PPR29_HUMAN	V	353	ENSP00000300147:A353V;ENSP00000385277:A353V	ENSP00000300147:A353V	A	-	2	0	ELFN2	36100463	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.858000	0.86971	2.444000	0.82710	0.609000	0.83330	GCG		0.587	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		26	76	0	0	0	1	0	26	76				
PIEZO1	9780	broad.mit.edu	37	16	88780127	88780127	+	IGR	SNP	G	G	A	rs374694184		TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr16:88780127G>A	ENST00000301015.9	-	0	8072				CTU2_ENST00000453996.2_Missense_Mutation_p.A316T|CTU2_ENST00000567949.1_Missense_Mutation_p.A387T|MIR4722_ENST00000578292.1_RNA|CTU2_ENST00000312060.5_Missense_Mutation_p.A316T|CTU2_ENST00000378384.3_Missense_Mutation_p.A229T	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						GAAGGAGGTCGCTTTCTACAA	0.637																																						ENST00000567949.1																			0				NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1159-1161)Gct>Act		cytosolic thiouridylase subunit 2 homolog (S. pombe)		G	THR/ALA,THR/ALA	0,4390		0,0,2195	108.0	100.0	103.0		946,946	3.7	1.0	16		103	2,8596	2.2+/-6.3	0,2,4297	no	missense,missense	CTU2	NM_001012759.1,NM_001012762.1	58,58	0,2,6492	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	316/516,316/486	88780127	2,12986	2195	4299	6494	SO:0001628	intergenic_variant	348180				tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding	g.chr16:88780127G>A	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88780127G>A						CTU2_ENST00000312060.5_Missense_Mutation_p.A316T|CTU2_ENST00000378384.3_Missense_Mutation_p.A229T|CTU2_ENST00000453996.2_Missense_Mutation_p.A316T	p.A387T			Q2VPK5	CTU2_HUMAN			9	1168	+			316					A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	ENST00000301015.9	37	c.1159G>A	CCDS54058.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191748	0.78902	0.0	2.33E-4	ENSG00000174177	ENST00000378384;ENST00000312060;ENST00000453996	T;T;T	0.17528	2.27;2.27;2.27	4.66	3.7	0.42460	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.057524	0.64402	D	0.000001	T	0.29524	0.0736	L	0.45698	1.435	0.54753	D	0.999988	D;D;D	0.76494	0.998;0.998;0.999	P;P;D	0.63703	0.842;0.795;0.917	T	0.01198	-1.1421	10	0.34782	T	0.22	.	11.9937	0.53189	0.0872:0.0:0.9128:0.0	.	229;316;316	Q2VPK5-3;Q2VPK5-5;Q2VPK5	.;.;CTU2_HUMAN	T	229;316;316	ENSP00000367635:A229T;ENSP00000308617:A316T;ENSP00000388320:A316T	ENSP00000308617:A316T	A	+	1	0	CTU2	87307628	0.999000	0.42202	0.955000	0.39395	0.930000	0.56654	4.376000	0.59556	1.094000	0.41399	0.655000	0.94253	GCT		0.637	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745		39	77	0	0	0	1	0	39	77				
AURKAIP1	54998	broad.mit.edu	37	1	1309669	1309669	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr1:1309669G>C	ENST00000338370.3	-	2	609	c.209C>G	c.(208-210)tCc>tGc	p.S70C	AURKAIP1_ENST00000321751.5_Missense_Mutation_p.S70C|AURKAIP1_ENST00000489799.1_5'UTR|AURKAIP1_ENST00000378853.3_Missense_Mutation_p.S70C|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.S70C			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	70					negative regulation of mitosis (GO:0045839)|positive regulation of proteolysis (GO:0045862)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGGCTGACGGACATCTTCCT	0.672																																						ENST00000338370.3																			0				kidney(1)|lung(2)	3						c.(208-210)tCc>tGc		aurora kinase A interacting protein 1							29.0	35.0	33.0					1																	1309669		2203	4294	6497	SO:0001583	missense	54998				negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding	g.chr1:1309669G>C		CCDS25.1	1p36.33	2014-02-12			ENSG00000175756	ENSG00000175756			24114	protein-coding gene	gene with protein product		609183				12244051	Standard	NM_017900		Approved	AKIP, AIP, FLJ20608	uc009vkb.1	Q9NWT8	OTTHUMG00000001413	ENST00000338370.3:c.209C>G	1.37:g.1309669G>C	ENSP00000342676:p.Ser70Cys					AURKAIP1_ENST00000378853.3_Missense_Mutation_p.S70C|AURKAIP1_ENST00000489799.1_5'UTR|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.S70C|AURKAIP1_ENST00000321751.5_Missense_Mutation_p.S70C	p.S70C			Q9NWT8	AKIP_HUMAN		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	2	609	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	70					Q5TA36|Q8TBD3	Missense_Mutation	SNP	ENST00000338370.3	37	c.209C>G	CCDS25.1	.	.	.	.	.	.	.	.	.	.	g	14.05	2.419336	0.42918	.	.	ENSG00000175756	ENST00000338338;ENST00000338370;ENST00000321751;ENST00000378853	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.16	3.28	0.37604	.	0.231837	0.37053	N	0.002273	T	0.40272	0.1110	M	0.73217	2.22	0.28904	N	0.893121	B	0.12630	0.006	B	0.09377	0.004	T	0.36504	-0.9745	10	0.54805	T	0.06	-7.4649	15.9226	0.79589	0.0:0.2558:0.7442:0.0	.	70	Q9NWT8	AKIP_HUMAN	C	70	ENSP00000340656:S70C;ENSP00000342676:S70C;ENSP00000319778:S70C;ENSP00000368130:S70C	ENSP00000319778:S70C	S	-	2	0	AURKAIP1	1299532	1.000000	0.71417	0.968000	0.41197	0.856000	0.48823	6.122000	0.71608	0.196000	0.20367	-0.795000	0.03280	TCC		0.672	AURKAIP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008273.1	NM_017900		11	33	0	0	0	1	0	11	33				
PHLDB1	23187	broad.mit.edu	37	11	118529706	118529706	+	IGR	SNP	G	G	A			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr11:118529706G>A	ENST00000361417.2	+	0	5753				TREH_ENST00000530256.1_Missense_Mutation_p.R362C|TREH_ENST00000525958.1_Missense_Mutation_p.R454C|TREH_ENST00000264029.4_Missense_Mutation_p.R485C|TREH_ENST00000397925.1_Missense_Mutation_p.R454C|TREH_ENST00000529101.1_Missense_Mutation_p.R485C	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1											breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGGGCCCGACGTAAAGGTGCC	0.562											OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000529101.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(1453-1455)Cgt>Tgt		trehalase (brush-border membrane glycoprotein)							90.0	95.0	93.0					11																	118529706		2000	4166	6166	SO:0001628	intergenic_variant	11181				polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity	g.chr11:118529706G>A		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341		11.37:g.118529706G>A			OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1489	TREH_ENST00000264029.4_Missense_Mutation_p.R485C|TREH_ENST00000530256.1_Missense_Mutation_p.R362C|TREH_ENST00000525958.1_Missense_Mutation_p.R454C|TREH_ENST00000397925.1_Missense_Mutation_p.R454C	p.R485C			O43280	TREA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)	13	1498	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)	485					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.1453C>T	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592081	0.28357	.	.	ENSG00000118094	ENST00000529101;ENST00000530256;ENST00000264029;ENST00000450700;ENST00000525958;ENST00000397925	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	5.3	-0.356	0.12583	Six-hairpin glycosidase-like (1);	0.912032	0.09699	N	0.767253	T	0.10637	0.0260	.	.	.	0.09310	N	1	P;B;B	0.45672	0.864;0.016;0.008	B;B;B	0.41332	0.354;0.004;0.004	T	0.23154	-1.0196	9	0.72032	D	0.01	-0.3283	3.8242	0.08848	0.1426:0.3786:0.357:0.1218	.	454;362;485	E9PNA2;E9PPK1;O43280	.;.;TREA_HUMAN	C	485;362;485;362;454;454	ENSP00000435095:R485C;ENSP00000432640:R362C;ENSP00000264029:R485C;ENSP00000432853:R454C;ENSP00000381020:R454C	ENSP00000264029:R485C	R	-	1	0	TREH	118034916	0.005000	0.15991	0.008000	0.14137	0.441000	0.31987	0.193000	0.17116	0.056000	0.16144	0.655000	0.94253	CGT		0.562	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		11	89	0	0	0	1	0	11	89				
ZZEF1	23140	broad.mit.edu	37	17	3977524	3977524	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr17:3977524C>A	ENST00000381638.2	-	24	3729	c.3605G>T	c.(3604-3606)tGg>tTg	p.W1202L	ZZEF1_ENST00000574474.1_5'Flank	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1202							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATCCAGCCCCCAAGACACGGC	0.587																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(3604-3606)tGg>tTg		zinc finger, ZZ-type with EF-hand domain 1							179.0	170.0	173.0					17																	3977524		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3977524C>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.3605G>T	17.37:g.3977524C>A	ENSP00000371051:p.Trp1202Leu						p.W1202L	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			24	3729	-			1202					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.3605G>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	34	5.366711	0.95900	.	.	ENSG00000074755	ENST00000381638	T	0.58652	0.32	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.76478	0.3993	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76019	-0.3112	10	0.59425	D	0.04	-9.7744	20.2192	0.98319	0.0:1.0:0.0:0.0	.	1202	O43149	ZZEF1_HUMAN	L	1202	ENSP00000371051:W1202L	ENSP00000371051:W1202L	W	-	2	0	ZZEF1	3924273	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.443000	0.80521	2.780000	0.95670	0.655000	0.94253	TGG		0.587	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		22	142	1	0	4.35082e-09	1	4.92329e-09	22	142				
TMEM140	55281	broad.mit.edu	37	7	134849232	134849232	+	Silent	SNP	G	G	A			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr7:134849232G>A	ENST00000275767.3	+	2	262	c.39G>A	c.(37-39)ctG>ctA	p.L13L	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	13						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)	5						ACCAGCTGCTGTTCATGAGCA	0.592																																						ENST00000275767.2																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(37-39)ctG>ctA		transmembrane protein 140							147.0	128.0	134.0					7																	134849232		2203	4300	6503	SO:0001819	synonymous_variant	55281					integral to membrane		g.chr7:134849232G>A	AK001862	CCDS5837.1	7q33	2006-03-17			ENSG00000146859	ENSG00000146859			21870	protein-coding gene	gene with protein product							Standard	NM_018295		Approved	FLJ11000	uc003vsi.3	Q9NV12	OTTHUMG00000155413	ENST00000275767.3:c.39G>A	7.37:g.134849232G>A						C7orf49_ENST00000459937.1_Intron	p.L13L	NM_018295.4	NP_060765.4	Q9NV12	TM140_HUMAN			2	262	+			13					A4D1P9|Q8WUC3	Silent	SNP	ENST00000275767.3	37	c.39G>A	CCDS5837.1																																																																																				0.592	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340017.2	NM_018295		15	125	0	0	0	1	0	15	125				
TCOF1	6949	broad.mit.edu	37	5	149776147	149776149	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr5:149776147_149776149delAAG	ENST00000504761.2	+	24	4084_4086	c.4084_4086delAAG	c.(4084-4086)aagdel	p.K1366del	TCOF1_ENST00000377797.3_In_Frame_Del_p.K1367del|TCOF1_ENST00000323668.7_In_Frame_Del_p.K1289del|TCOF1_ENST00000513346.1_In_Frame_Del_p.K1366del|TCOF1_ENST00000451292.1_In_Frame_Del_p.K1403del|TCOF1_ENST00000445265.2_In_Frame_Del_p.K1290del|TCOF1_ENST00000439160.2_In_Frame_Del_p.K1329del			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1366	Poly-Lys.				skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)	p.K1362delK(1)|p.K1285delK(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCAGGAGCAAGAAGAAGAAGA	0.601																																						ENST00000451292.1																			2	Deletion - In frame(2)	p.K1362delK(1)|p.K1285delK(1)	breast(2)	NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(4195-4197)del		Treacher Collins-Franceschetti syndrome 1			,,,,	142,4018		6,130,1944					,,,,	3.8	1.0			10	321,7729		16,289,3720	no	coding,coding,coding,coding,coding	TCOF1	NM_001195141.1,NM_001135245.1,NM_001135244.1,NM_001135243.1,NM_000356.3	,,,,	22,419,5664	A1A1,A1R,RR		3.9876,3.4135,3.792	,,,,	,,,,		463,11747				SO:0001651	inframe_deletion	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149776147_149776149delAAG		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.4084_4086delAAG	5.37:g.149776156_149776158delAAG	ENSP00000421655:p.Lys1366del					TCOF1_ENST00000504761.2_In_Frame_Del_p.K1366del|TCOF1_ENST00000439160.2_In_Frame_Del_p.K1329del|TCOF1_ENST00000445265.2_In_Frame_Del_p.K1290del|TCOF1_ENST00000323668.7_In_Frame_Del_p.K1289del|TCOF1_ENST00000377797.3_In_Frame_Del_p.K1367del|TCOF1_ENST00000513346.1_In_Frame_Del_p.K1366del	p.K1403del			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		25	4303_4305	+		all_hematologic(541;0.224)	1366					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	In_Frame_Del	DEL	ENST00000504761.2	37	c.4195_4197delAAG	CCDS54936.1																																																																																				0.601	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		2	4						2	4	---	---	---	---
TYSND1	219743	broad.mit.edu	37	10	71905929	71905931	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr10:71905929_71905931delCAG	ENST00000287078.6	-	1	411_413	c.412_414delCTG	c.(412-414)ctgdel	p.L138del	TYSND1_ENST00000494143.1_5'Flank|TYSND1_ENST00000335494.5_In_Frame_Del_p.L138del	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	138					protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CCGGGCAGCTCAGCAGCAGCAGC	0.739																																						ENST00000287078.6																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						c.(412-414)del		trypsin domain containing 1			,	28,3524		5,18,1753					,	3.1	1.0			5	76,7040		14,48,3496	no	coding,coding	TYSND1	NM_173555.2,NM_001040273.1	,	19,66,5249	A1A1,A1R,RR		1.068,0.7883,0.9749	,	,		104,10564				SO:0001651	inframe_deletion	219743				proteolysis	peroxisome	serine-type endopeptidase activity	g.chr10:71905929_71905931delCAG	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.412_414delCTG	10.37:g.71905938_71905940delCAG	ENSP00000287078:p.Leu138del					TYSND1_ENST00000335494.5_In_Frame_Del_p.L138del	p.L138del	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN			1	411_413	-			138					Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	In_Frame_Del	DEL	ENST00000287078.6	37	c.412_414delCTG	CCDS31213.1																																																																																				0.739	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555		3	5						3	5	---	---	---	---
